#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_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_default_gene_name	i_deletion_substructures	i_domain	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	i_gene_name_source	i_gene_type	i_havana_transcript	i_header	i_normal_VAF	i_normal_ref_reads	i_normal_var_reads	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_tier	i_title	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_VAF	i_tumor_ref_reads	i_tumor_var_reads	i_type	i_ucsc_cons	i_variant
ADAMTS12	81792	genome.wustl.edu	37	5	33577086	33577087	+	Frame_Shift_Ins	INS	-	-	T			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr5:33577086_33577087insT	ENST00000504830.1	-	19	3379_3380	c.3044_3045insA	c.(3043-3045)aacfs	p.N1015fs	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Frame_Shift_Ins_p.N930fs	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1015	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.N1015T(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GTGTTGGTGGGTTTTTTCCATT	0.53										HNSCC(64;0.19)																																							1	Substitution - Missense(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	0			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3045dupA	5.37:g.33577092_33577092dupT	ENSP00000422554:p.Asn1015fs		A2RRN9|A5D6V6|Q6UWL3	Frame_Shift_Ins	INS	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.N1015fs	ENST00000504830.1	37	c.3045_3044	CCDS34140.1	5																																																																																			ADAMTS12	-	NULL	ENSG00000151388		0.530	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2		0.00	69	0	-	NM_030955		33577087	-1	tier1		no_errors	ENST00000504830	ensembl	human	known	74_37	frame_shift_ins	39.56	55	36	INS	0.008:0.083	T
AK9	221264	genome.wustl.edu	37	6	109819047	109819047	+	Missense_Mutation	SNP	G	G	A			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr6:109819047G>A	ENST00000424296.2	-	37	5244	c.5168C>T	c.(5167-5169)gCg>gTg	p.A1723V	RP5-919F19.5_ENST00000423747.2_RNA	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1723					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										CTGGAGCTCCGCACACTTAGG	0.498																																																	0													143.0	135.0	137.0					6																	109819047		2203	4300	6503	SO:0001583	missense	0			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.5168C>T	6.37:g.109819047G>A	ENSP00000410186:p.Ala1723Val		A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	pfam_Adenylate_kin,pfam_YHS_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.A1723V	ENST00000424296.2	37	c.5168	CCDS55048.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.87|10.87	1.472192|1.472192	0.26423|0.26423	.|.	.|.	ENSG00000155085|ENSG00000155085	ENST00000424296|ENST00000470564	T|.	0.62788|.	0.0|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.155105|.	0.56097|.	D|.	0.000025|.	T|T	0.67906|0.67906	0.2943|0.2943	L|L	0.61036|0.61036	1.89|1.89	0.80722|0.80722	D|D	1|1	P;D|.	0.58620|.	0.47;0.983|.	B;P|.	0.44394|.	0.03;0.448|.	T|T	0.64896|0.64896	-0.6299|-0.6299	9|5	.|.	.|.	.|.	.|.	19.5146|19.5146	0.95157|0.95157	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	108;1723|.	B7ZL24;Q5TCS8|.	.;AKD1_HUMAN|.	V|W	1723|561	ENSP00000410186:A1723V|.	.|.	A|R	-|-	2|1	0|2	AKD1|AKD1	109925740|109925740	1.000000|1.000000	0.71417|0.71417	0.950000|0.950000	0.38849|0.38849	0.923000|0.923000	0.55619|0.55619	5.408000|5.408000	0.66368|0.66368	2.620000|2.620000	0.88729|0.88729	0.561000|0.561000	0.74099|0.74099	GCG|CGG	AK9	-	NULL	ENSG00000155085		0.498	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AK9	HGNC	protein_coding		-	0.00	46	0	G	NM_001145128		109819047	-1	tier1	-	no_errors	ENST00000424296	ensembl	human	known	74_37	missense	26.58	58	21	SNP	0.981	A
AKNA	80709	genome.wustl.edu	37	9	117098525	117098526	+	3'UTR	DEL	CA	CA	-	rs372706280		TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr9:117098525_117098526delCA	ENST00000307564.4	-	0	5289_5290				AKNA_ENST00000374088.3_3'UTR|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000223791.3_3'UTR|AKNA_ENST00000374079.4_3'UTR|AKNA_ENST00000374075.5_3'UTR	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						ATCATTGATGCACACACATTCC	0.48																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.*809TG>-	9.37:g.117098531_117098532delCA			Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	RNA	DEL	-	NULL	ENST00000307564.4	37	NULL	CCDS6805.1	9																																																																																			AKNA	-	-	ENSG00000106948		0.480	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNA	HGNC	protein_coding	OTTHUMT00000053767.2		0.00	74	0	CA	NM_030767		117098526	-1	tier1		no_errors	ENST00000492875	ensembl	human	known	74_37	rna	15.79	64	12	DEL	0.997:0.997	-
ALOX5	240	genome.wustl.edu	37	10	45941026	45941026	+	Missense_Mutation	SNP	G	G	A			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr10:45941026G>A	ENST00000374391.2	+	14	1969	c.1916G>A	c.(1915-1917)cGc>cAc	p.R639H	RP11-67C2.2_ENST00000435635.1_RNA|ALOX5_ENST00000542434.1_Missense_Mutation_p.R582H	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	639	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	GCCCGATTCCGCAAGAACCTC	0.532																																																	0													99.0	94.0	96.0					10																	45941026		2203	4300	6503	SO:0001583	missense	0			J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"""Arachidonate lipoxygenases"""	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.1916G>A	10.37:g.45941026G>A	ENSP00000363512:p.Arg639His		B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Missense_Mutation	SNP	pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C,pfscan_PLAT/LH2_dom	p.R639H	ENST00000374391.2	37	c.1916	CCDS7212.1	10	.	.	.	.	.	.	.	.	.	.	G	15.92	2.976004	0.53720	.	.	ENSG00000012779	ENST00000542434;ENST00000374391	D;D	0.90444	-2.67;-2.67	5.14	4.24	0.50183	Lipoxygenase, C-terminal (3);	0.152591	0.64402	N	0.000015	D	0.89543	0.6745	M	0.81179	2.53	0.27278	N	0.958182	P;B;B	0.39862	0.692;0.068;0.043	B;B;B	0.36134	0.218;0.049;0.027	D	0.85291	0.1067	10	0.59425	D	0.04	-26.8399	11.8919	0.52635	0.085:0.0:0.915:0.0	.	582;607;639	B7ZLS0;E5FPY8;P09917	.;.;LOX5_HUMAN	H	582;639	ENSP00000437634:R582H;ENSP00000363512:R639H	ENSP00000363512:R639H	R	+	2	0	ALOX5	45261032	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	6.597000	0.74118	1.537000	0.49254	0.655000	0.94253	CGC	ALOX5	-	pfam_LipOase_C,superfamily_LipOase_C	ENSG00000012779		0.532	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX5	HGNC	protein_coding	OTTHUMT00000047780.1	-	0.00	51	0	G			45941026	+1	tier1	-	no_errors	ENST00000374391	ensembl	human	known	74_37	missense	37.84	46	28	SNP	1.000	A
AR	367	genome.wustl.edu	37	X	66905892	66905892	+	Silent	SNP	T	T	C			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chrX:66905892T>C	ENST00000374690.3	+	3	2333	c.1809T>C	c.(1807-1809)acT>acC	p.T603T	AR_ENST00000396044.3_Silent_p.T603T|AR_ENST00000504326.1_Silent_p.T603T|AR_ENST00000396043.2_Silent_p.T71T|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	602	Interaction with HIPK3. {ECO:0000250}.|Interaction with LPXN.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	ATGATTGCACTATTGATAAAT	0.408									Androgen Insensitivity Syndrome																																								0													124.0	107.0	112.0					X																	66905892		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.1809T>C	X.37:g.66905892T>C			A2RUN2|B1AKD7|Q9UD95	Silent	SNP	pfam_Andrgn_rcpt,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_Andrgn_rcpt,prints_Znf_hrmn_rcpt	p.T603	ENST00000374690.3	37	c.1809	CCDS14387.1	X																																																																																			AR	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	ENSG00000169083		0.408	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AR	HGNC	protein_coding	OTTHUMT00000057007.1	-	0.00	96	0	T	NM_000044		66905892	+1	tier1	-	no_errors	ENST00000374690	ensembl	human	known	74_37	silent	15.38	110	20	SNP	1.000	C
ARHGAP15	55843	genome.wustl.edu	37	2	143913112	143913112	+	Missense_Mutation	SNP	G	G	A			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr2:143913112G>A	ENST00000295095.6	+	2	220	c.53G>A	c.(52-54)cGc>cAc	p.R18H	ARHGAP15_ENST00000409869.1_Missense_Mutation_p.R18H	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	18					positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		AATTCTACCCGCCAAGGCACA	0.398																																																	0													77.0	68.0	71.0					2																	143913112		2203	4300	6503	SO:0001583	missense	0			AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.53G>A	2.37:g.143913112G>A	ENSP00000295095:p.Arg18His		Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.R18H	ENST00000295095.6	37	c.53	CCDS2184.1	2	.	.	.	.	.	.	.	.	.	.	G	12.28	1.890368	0.33348	.	.	ENSG00000075884	ENST00000409869;ENST00000295095	T	0.07567	3.18	5.96	3.74	0.42951	.	0.515556	0.21547	N	0.072797	T	0.02848	0.0085	N	0.03608	-0.345	0.22412	N	0.999122	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42447	-0.9451	10	0.17832	T	0.49	.	2.9511	0.05862	0.5189:0.25:0.2311:0.0	.	18;18	B4E0R3;Q53QZ3	.;RHG15_HUMAN	H	18	ENSP00000295095:R18H	ENSP00000295095:R18H	R	+	2	0	ARHGAP15	143629582	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	2.445000	0.44899	1.317000	0.45149	0.655000	0.94253	CGC	ARHGAP15	-	NULL	ENSG00000075884		0.398	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP15	HGNC	protein_coding	OTTHUMT00000254793.2	-	0.00	13	0	G	NM_018460		143913112	+1	tier1	-	no_errors	ENST00000295095	ensembl	human	known	74_37	missense	26.92	19	7	SNP	1.000	A
ARMCX1	51309	genome.wustl.edu	37	X	100807920	100807920	+	Missense_Mutation	SNP	C	C	T			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chrX:100807920C>T	ENST00000372829.3	+	4	378	c.7C>T	c.(7-9)Cgc>Tgc	p.R3C		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	3						integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						TACCATGGGCCGCACTCGGGA	0.602																																																	0													56.0	52.0	53.0					X																	100807920		2203	4300	6503	SO:0001583	missense	0			AB039670	CCDS14487.1	Xq21.33-q22.2	2014-03-21			ENSG00000126947	ENSG00000126947		"""Armadillo repeat containing"""	18073	protein-coding gene	gene with protein product		300362				11162520, 16221301, 22569362	Standard	NM_016608		Approved	ALEX1, GASP7	uc004ehv.3	Q9P291	OTTHUMG00000022033	ENST00000372829.3:c.7C>T	X.37:g.100807920C>T	ENSP00000361917:p.Arg3Cys		Q53HK2|Q9H2Q0	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.R3C	ENST00000372829.3	37	c.7	CCDS14487.1	X	.	.	.	.	.	.	.	.	.	.	c	17.45	3.391981	0.62066	.	.	ENSG00000126947	ENST00000372829	T	0.37584	1.19	3.6	2.71	0.32032	.	1.005610	0.08026	N	0.992663	T	0.51126	0.1656	L	0.54323	1.7	0.40279	D	0.978377	D	0.76494	0.999	D	0.64776	0.929	T	0.44390	-0.9331	10	0.72032	D	0.01	-7.0009	7.3086	0.26461	0.2616:0.7384:0.0:0.0	.	3	Q9P291	ARMX1_HUMAN	C	3	ENSP00000361917:R3C	ENSP00000361917:R3C	R	+	1	0	ARMCX1	100694576	0.994000	0.37717	0.998000	0.56505	0.987000	0.75469	0.998000	0.29744	0.852000	0.35287	0.544000	0.68410	CGC	ARMCX1	-	NULL	ENSG00000126947		0.602	ARMCX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMCX1	HGNC	protein_coding	OTTHUMT00000057561.1	-	0.00	77	0	C	NM_016608		100807920	+1	tier1	-	no_errors	ENST00000372829	ensembl	human	known	74_37	missense	27.27	80	30	SNP	0.998	T
ARRB1	408	genome.wustl.edu	37	11	74992149	74992149	+	Missense_Mutation	SNP	G	G	A	rs74550237		TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr11:74992149G>A	ENST00000420843.2	-	7	549	c.452C>T	c.(451-453)gCg>gTg	p.A151V	ARRB1_ENST00000360025.3_Missense_Mutation_p.A151V|ARRB1_ENST00000393505.4_Missense_Mutation_p.A151V	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	151	Interaction with SRC. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|Notch signaling pathway (GO:0007219)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of GTPase activity (GO:0043547)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-Golgi vesicle-mediated transport (GO:0006892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)|transcription from RNA polymerase II promoter (GO:0006366)	basolateral plasma membrane (GO:0016323)|chromatin (GO:0000785)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|pseudopodium (GO:0031143)	angiotensin receptor binding (GO:0031701)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme inhibitor activity (GO:0004857)|GTPase activator activity (GO:0005096)|insulin-like growth factor receptor binding (GO:0005159)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						CAAATTCTCCGCGCAGAAGGC	0.597																																																	0													97.0	78.0	84.0					11																	74992149		2200	4292	6492	SO:0001583	missense	0			BC003636	CCDS31640.1, CCDS44684.1	11q13	2008-12-11			ENSG00000137486	ENSG00000137486			711	protein-coding gene	gene with protein product	"""arrestin 2"""	107940		ARR1		8486659	Standard	NM_004041		Approved		uc001owe.2	P49407	OTTHUMG00000165444	ENST00000420843.2:c.452C>T	11.37:g.74992149G>A	ENSP00000409581:p.Ala151Val		B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Missense_Mutation	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin	p.A151V	ENST00000420843.2	37	c.452	CCDS44684.1	11	.	.	.	.	.	.	.	.	.	.	G	28.4	4.913440	0.92178	.	.	ENSG00000137486	ENST00000420843;ENST00000393505;ENST00000360025;ENST00000532525	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	5.4	5.4	0.78164	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.50684	0.1630	M	0.84773	2.715	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.66847	0.947;0.941	T	0.56619	-0.7949	10	0.66056	D	0.02	-13.2385	16.6796	0.85288	0.0:0.0:1.0:0.0	.	151;151	P49407-2;P49407	.;ARRB1_HUMAN	V	151;151;151;146	ENSP00000409581:A151V;ENSP00000377141:A151V;ENSP00000353124:A151V;ENSP00000433171:A146V	ENSP00000353124:A151V	A	-	2	0	ARRB1	74669797	1.000000	0.71417	0.510000	0.27712	0.679000	0.39708	9.445000	0.97587	2.559000	0.86315	0.462000	0.41574	GCG	ARRB1	-	pfam_Arrestin-like_N,superfamily_Ig_E-set	ENSG00000137486		0.597	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARRB1	HGNC	protein_coding	OTTHUMT00000384092.3	-	0.00	16	0	G	NM_004041		74992149	-1	tier1	rs74550237	no_errors	ENST00000393505	ensembl	human	known	74_37	missense	45.45	12	10	SNP	1.000	A
ATF7IP2	80063	genome.wustl.edu	37	16	10565979	10565981	+	In_Frame_Del	DEL	TGT	TGT	-	rs566280429|rs199605421	byFrequency	TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	TGT	TGT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr16:10565979_10565981delTGT	ENST00000396560.2	+	8	1592_1594	c.1365_1367delTGT	c.(1363-1368)gatgtt>gat	p.V456del	ATF7IP2_ENST00000396559.1_In_Frame_Del_p.V456del|ATF7IP2_ENST00000356427.2_In_Frame_Del_p.V456del|ATF7IP2_ENST00000324570.5_In_Frame_Del_p.V456del|ATF7IP2_ENST00000543967.1_5'UTR	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	456					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						ACAATGATGATGTTATGTTGATT	0.296														25	0.00499201	0.0008	0.0086	5008	,	,		16695	0.001		0.0099	False		,,,				2504	0.0072																0										6,4252		0,6,2123						2.3	1.0			67	99,8125		1,97,4014	no	coding	ATF7IP2	NM_024997.2		1,103,6137	A1A1,A1R,RR		1.2038,0.1409,0.8412				105,12377				SO:0001651	inframe_deletion	0			AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.1365_1367delTGT	16.37:g.10565979_10565981delTGT	ENSP00000379808:p.Val456del		B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	In_Frame_Del	DEL	superfamily_Fibronectin_type3	p.V456in_frame_del	ENST00000396560.2	37	c.1365_1367	CCDS10540.1	16																																																																																			ATF7IP2	-	NULL	ENSG00000166669		0.296	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATF7IP2	HGNC	protein_coding	OTTHUMT00000251961.1		0.00	13	0	TGT	NM_024997		10565981	+1	tier1		no_errors	ENST00000356427	ensembl	human	known	74_37	in_frame_del	40.00	12	8	DEL	0.998:0.999:0.999	-
BOD1L1	259282	genome.wustl.edu	37	4	13604149	13604149	+	Missense_Mutation	SNP	G	G	T			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr4:13604149G>T	ENST00000040738.5	-	10	4510	c.4375C>A	c.(4375-4377)Cat>Aat	p.H1459N		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1459						nucleus (GO:0005634)	DNA binding (GO:0003677)										CTTCTTTTATGCTTAAGTTTG	0.393																																																	0													90.0	75.0	80.0					4																	13604149		2203	4300	6503	SO:0001583	missense	0			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.4375C>A	4.37:g.13604149G>T	ENSP00000040738:p.His1459Asn		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	NULL	p.H1459N	ENST00000040738.5	37	c.4375	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	G	7.490	0.650481	0.14516	.	.	ENSG00000038219	ENST00000040738	T	0.06528	3.29	5.37	2.29	0.28610	.	1.676220	0.03225	N	0.178090	T	0.04998	0.0134	N	0.19112	0.55	0.09310	N	1	B	0.29432	0.244	B	0.21546	0.035	T	0.39981	-0.9587	10	0.21540	T	0.41	0.2215	7.0919	0.25289	0.2179:0.2644:0.5177:0.0	.	1459	Q8NFC6	BOD1L_HUMAN	N	1459	ENSP00000040738:H1459N	ENSP00000040738:H1459N	H	-	1	0	BOD1L	13213247	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	0.029000	0.13666	0.546000	0.28920	0.650000	0.86243	CAT	BOD1L1	-	NULL	ENSG00000038219		0.393	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	-	0.00	68	0	G	NM_148894		13604149	-1	tier1	-	no_errors	ENST00000040738	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.000	T
BRAP	8315	genome.wustl.edu	37	12	112119530	112119530	+	Silent	SNP	C	C	T	rs375357747		TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr12:112119530C>T	ENST00000327551.6	-	3	404	c.264G>A	c.(262-264)ccG>ccA	p.P88P	BRAP_ENST00000419234.4_Silent_p.P118P|BRAP_ENST00000539060.1_5'Flank			Q6UWU4	CF089_HUMAN	BRCA1 associated protein	0					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						GCTGTTTGGACGGAGAATCTG	0.418																																					Pancreas(146;846 1904 7830 25130 26065)												0								C		1,4405	2.1+/-5.4	0,1,2202	172.0	160.0	164.0		354	1.0	1.0	12		164	0,8600		0,0,4300	no	coding-synonymous	BRAP	NM_006768.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		118/593	112119530	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF035620	CCDS9154.1	12q24.12	2014-09-11			ENSG00000089234	ENSG00000089234		"""RING-type (C3HC4) zinc fingers"""	1099	protein-coding gene	gene with protein product	"""impedes mitogenic signal propagation"", ""galectin-2-binding protein"""	604986				9497340, 19198608	Standard	XM_005253944		Approved	BRAP2, RNF52, IMP	uc001tsn.4	Q7Z569	OTTHUMG00000169600	ENST00000327551.6:c.264G>A	12.37:g.112119530C>T			B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Silent	SNP	pfam_BRAP2,pfam_Znf_UBP,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_UBP,pfscan_Znf_RING,pfscan_Znf_UBP	p.P118	ENST00000327551.6	37	c.354		12																																																																																			BRAP	-	NULL	ENSG00000089234		0.418	BRAP-002	PUTATIVE	basic|exp_conf	protein_coding	BRAP	HGNC	protein_coding	OTTHUMT00000404994.2	-	0.00	76	0	C			112119530	-1	tier1	-	no_errors	ENST00000419234	ensembl	human	known	74_37	silent	8.24	78	7	SNP	1.000	T
C3orf22	152065	genome.wustl.edu	37	3	126268845	126268845	+	Missense_Mutation	SNP	A	A	G			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr3:126268845A>G	ENST00000318225.2	-	4	670	c.292T>C	c.(292-294)Tgc>Cgc	p.C98R		NM_152533.1	NP_689746.1	Q8N5N4	CC022_HUMAN	chromosome 3 open reading frame 22	98										large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7				GBM - Glioblastoma multiforme(114;0.147)		CAAAGGTTGCACAGTGGAGGT	0.617																																																	0													156.0	128.0	138.0					3																	126268845		2203	4300	6503	SO:0001583	missense	0				CCDS3040.1	3q21.3	2011-09-30			ENSG00000180697	ENSG00000180697			28534	protein-coding gene	gene with protein product						12477932	Standard	NM_152533		Approved	MGC34728	uc003ejb.3	Q8N5N4	OTTHUMG00000162731	ENST00000318225.2:c.292T>C	3.37:g.126268845A>G	ENSP00000316644:p.Cys98Arg		B3KUS9	Missense_Mutation	SNP	NULL	p.C98R	ENST00000318225.2	37	c.292	CCDS3040.1	3	.	.	.	.	.	.	.	.	.	.	A	5.944	0.358188	0.11239	.	.	ENSG00000180697	ENST00000318225	.	.	.	2.71	0.244	0.15507	.	0.392891	0.18748	N	0.132277	T	0.16171	0.0389	N	0.17082	0.46	0.19945	N	0.999948	B	0.14805	0.011	B	0.12837	0.008	T	0.12993	-1.0526	9	0.24483	T	0.36	-0.7214	2.2905	0.04137	0.424:0.0:0.1879:0.3881	.	98	Q8N5N4	CC022_HUMAN	R	98	.	ENSP00000316644:C98R	C	-	1	0	C3orf22	127751535	0.000000	0.05858	0.002000	0.10522	0.262000	0.26303	0.215000	0.17562	0.048000	0.15891	0.260000	0.18958	TGC	C3orf22	-	NULL	ENSG00000180697		0.617	C3orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf22	HGNC	protein_coding	OTTHUMT00000370231.2	-	0.00	79	0	A	NM_152533		126268845	-1	tier1	-	no_errors	ENST00000318225	ensembl	human	known	74_37	missense	25.81	92	32	SNP	0.003	G
CACNB3	784	genome.wustl.edu	37	12	49221667	49221667	+	Silent	SNP	C	C	T			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr12:49221667C>T	ENST00000301050.2	+	13	1639	c.1440C>T	c.(1438-1440)ccC>ccT	p.P480P	CACNB3_ENST00000540990.1_Silent_p.P467P|CACNB3_ENST00000547230.1_Silent_p.P439P|CACNB3_ENST00000547392.1_Silent_p.P453P|CACNB3_ENST00000536187.2_Silent_p.P479P	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	480					axon guidance (GO:0007411)|calcium ion transport (GO:0006816)|membrane depolarization (GO:0051899)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|membrane (GO:0016020)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GGCCTTGGCCCAAGGATAGCT	0.647																																																	0													49.0	52.0	51.0					12																	49221667		2203	4299	6502	SO:0001819	synonymous_variant	0				CCDS8769.1, CCDS55821.1, CCDS55822.1, CCDS55823.1	12q13	2008-05-02				ENSG00000167535		"""Calcium channel subunits"""	1403	protein-coding gene	gene with protein product		601958		CACNLB3		8119293	Standard	NM_000725		Approved		uc010sly.2	P54284		ENST00000301050.2:c.1440C>T	12.37:g.49221667C>T			A8K0Z4|B7Z4Q1|B7Z973|B7ZAK8|F5GZW7|F5H2P6|F8VSG3|Q13913	Silent	SNP	pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,prints_VDCC_L_bsu,prints_VDCC_L_b3su	p.P480	ENST00000301050.2	37	c.1440	CCDS8769.1	12																																																																																			CACNB3	-	NULL	ENSG00000167535		0.647	CACNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNB3	HGNC	protein_coding	OTTHUMT00000408886.1	-	0.00	31	0	C			49221667	+1	tier1	-	no_errors	ENST00000301050	ensembl	human	known	74_37	silent	40.54	22	15	SNP	0.998	T
CCDC14	64770	genome.wustl.edu	37	3	123634512	123634512	+	Missense_Mutation	SNP	G	G	A			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr3:123634512G>A	ENST00000488653.2	-	13	2066	c.1976C>T	c.(1975-1977)gCt>gTt	p.A659V	CCDC14_ENST00000485727.1_Missense_Mutation_p.A459V|CCDC14_ENST00000310351.4_Missense_Mutation_p.A499V|CCDC14_ENST00000433542.2_Missense_Mutation_p.A618V|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000489746.1_Missense_Mutation_p.A459V			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	659					substantia nigra development (GO:0021762)	centrosome (GO:0005813)				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		CTTGCAGCGAGCACTGTCCAC	0.408																																																	0													104.0	110.0	108.0					3																	123634512		2203	4300	6503	SO:0001583	missense	0			AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.1976C>T	3.37:g.123634512G>A	ENSP00000420180:p.Ala659Val		B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Missense_Mutation	SNP	NULL	p.A659V	ENST00000488653.2	37	c.1976		3	.	.	.	.	.	.	.	.	.	.	G	3.032	-0.199396	0.06219	.	.	ENSG00000175455	ENST00000488653;ENST00000310351;ENST00000485727;ENST00000489746;ENST00000433542;ENST00000409697	T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89	5.32	3.54	0.40534	.	0.597918	0.17726	N	0.164045	T	0.30916	0.0780	L	0.42245	1.32	0.09310	N	1	B;B;B	0.14805	0.011;0.011;0.011	B;B;B	0.17722	0.019;0.019;0.009	T	0.18650	-1.0330	10	0.27785	T	0.31	.	5.6887	0.17817	0.2438:0.1444:0.6118:0.0	.	659;618;500	Q49A88;Q49A88-6;Q49A88-5	CCD14_HUMAN;.;.	V	659;499;459;459;618;640	ENSP00000420180:A659V;ENSP00000312031:A499V;ENSP00000418002:A459V;ENSP00000418403:A459V;ENSP00000395706:A618V;ENSP00000386866:A640V	ENSP00000312031:A499V	A	-	2	0	CCDC14	125117202	0.003000	0.15002	0.083000	0.20561	0.353000	0.29299	0.869000	0.27996	0.822000	0.34565	-0.136000	0.14681	GCT	CCDC14	-	NULL	ENSG00000175455		0.408	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	CCDC14	HGNC	protein_coding		-	0.00	44	0	G	NM_022757		123634512	-1	tier1	-	no_errors	ENST00000488653	ensembl	human	known	74_37	missense	38.10	39	24	SNP	0.000	A
CCDC40	55036	genome.wustl.edu	37	17	78032414	78032414	+	Silent	SNP	G	G	T			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr17:78032414G>T	ENST00000397545.4	+	8	1308	c.1281G>T	c.(1279-1281)acG>acT	p.T427T	CCDC40_ENST00000269318.5_Silent_p.T427T|CCDC40_ENST00000374876.4_Silent_p.T427T|CCDC40_ENST00000374877.3_Silent_p.T427T	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	427					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGGCCGAGACGGAGAGGATCC	0.502																																																	0													62.0	67.0	66.0					17																	78032414		2072	4201	6273	SO:0001819	synonymous_variant	0			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1281G>T	17.37:g.78032414G>T			A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Silent	SNP	pfam_E3_ubiquit_lig_BRE1	p.T427	ENST00000397545.4	37	c.1281	CCDS42395.1	17																																																																																			CCDC40	-	NULL	ENSG00000141519		0.502	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC40	HGNC	protein_coding	OTTHUMT00000256005.2	-	0.00	46	0	G	XM_371082		78032414	+1	tier1	-	no_errors	ENST00000397545	ensembl	human	known	74_37	silent	32.14	38	18	SNP	0.002	T
CD1E	913	genome.wustl.edu	37	1	158324285	158324285	+	Silent	SNP	G	G	C			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr1:158324285G>C	ENST00000368167.3	+	2	416	c.177G>C	c.(175-177)ctG>ctC	p.L59L	CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368160.3_Silent_p.L59L|CD1E_ENST00000434258.1_Silent_p.L57L|CD1E_ENST00000368163.3_Silent_p.L59L|CD1E_ENST00000368155.3_Silent_p.L59L|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368165.3_Silent_p.L59L|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368156.1_Silent_p.L59L|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368161.3_Silent_p.L59L|CD1E_ENST00000452291.2_Intron	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	59					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CAGGATGGCTGGGTGACCTGC	0.562																																																	0													72.0	76.0	75.0					1																	158324285		2186	4299	6485	SO:0001819	synonymous_variant	0			AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.177G>C	1.37:g.158324285G>C			B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Silent	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.L59	ENST00000368167.3	37	c.177	CCDS41417.1	1																																																																																			CD1E	-	superfamily_MHC_I/II-like_Ag-recog	ENSG00000158488		0.562	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD1E	HGNC	protein_coding	OTTHUMT00000046353.3	-	0.00	70	0	G	NM_030893		158324285	+1	tier1	-	no_errors	ENST00000368167	ensembl	human	known	74_37	silent	33.33	44	22	SNP	0.914	C
CDKN2A	1029	genome.wustl.edu	37	9	21970899	21970899	+	Splice_Site	SNP	A	A	G			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr9:21970899A>G	ENST00000304494.5	-	2	728		c.e2+1		CDKN2A_ENST00000579755.1_Splice_Site|CDKN2A_ENST00000479692.2_Splice_Site|CDKN2A_ENST00000578845.2_Splice_Site|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000579122.1_Intron|CDKN2A_ENST00000498628.2_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000446177.1_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000497750.1_Silent_p.G102G|CDKN2A_ENST00000361570.3_Splice_Site	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(12)|p.0(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		ATCAGTCCTCACCTGAGGGAC	0.592		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																							1328	Whole gene deletion(1316)|Unknown(12)	haematopoietic_and_lymphoid_tissue(277)|skin(167)|central_nervous_system(163)|lung(140)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(51)|oesophagus(48)|upper_aerodigestive_tract(47)|pancreas(33)|ovary(33)|breast(31)|kidney(29)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)											33.0	35.0	34.0					9																	21970899		2203	4300	6503	SO:0001630	splice_region_variant	0			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.457+1T>C	9.37:g.21970899A>G			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Splice_Site	SNP	-	e2+2	ENST00000304494.5	37	c.522+2	CCDS6510.1	9	.	.	.	.	.	.	.	.	.	.	A	7.729	0.698919	0.15106	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	.	.	.	4.21	4.21	0.49690	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.9523	0.41647	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDKN2A	21960899	1.000000	0.71417	1.000000	0.80357	0.024000	0.10985	2.577000	0.46042	2.125000	0.65367	0.533000	0.62120	.	CDKN2A	-	-	ENSG00000147889		0.592	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKN2A	HGNC	protein_coding	OTTHUMT00000051915.1	-	0.00	39	0	A	NM_000077	Intron	21970899	-1	tier1	-	no_errors	ENST00000361570	ensembl	human	known	74_37	splice_site	21.21	26	7	SNP	1.000	G
CILP2	148113	genome.wustl.edu	37	19	19654085	19654085	+	Nonsense_Mutation	SNP	C	C	T			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr19:19654085C>T	ENST00000291495.5	+	7	1091	c.1006C>T	c.(1006-1008)Cga>Tga	p.R336*	CILP2_ENST00000586018.1_Nonsense_Mutation_p.R342*	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	336	Ig-like C2-type.					extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GCTGGACAGGCGAGCTCATGG	0.662																																																	0													39.0	45.0	43.0					19																	19654085		2203	4300	6503	SO:0001587	stop_gained	0			AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.1006C>T	19.37:g.19654085C>T	ENSP00000291495:p.Arg336*		Q6NV88|Q8N4A6|Q8WV21	Nonsense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.R336*	ENST00000291495.5	37	c.1006	CCDS12405.1	19	.	.	.	.	.	.	.	.	.	.	C	27.6	4.847967	0.91277	.	.	ENSG00000160161	ENST00000291495	.	.	.	4.79	3.75	0.43078	.	0.265665	0.35615	N	0.003087	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-11.9275	10.6243	0.45497	0.3304:0.6696:0.0:0.0	.	.	.	.	X	336	.	ENSP00000291495:R336X	R	+	1	2	CILP2	19515085	0.000000	0.05858	0.892000	0.35008	0.475000	0.33008	0.526000	0.22971	0.963000	0.38082	0.485000	0.47835	CGA	CILP2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000160161		0.662	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CILP2	HGNC	protein_coding	OTTHUMT00000459738.3	-	0.00	69	0	C	NM_153221		19654085	+1	tier1	-	no_errors	ENST00000291495	ensembl	human	known	74_37	nonsense	22.92	73	22	SNP	0.464	T
CNTLN	54875	genome.wustl.edu	37	9	17135270	17135271	+	Frame_Shift_Ins	INS	-	-	G	rs578214691	byFrequency	TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr9:17135270_17135271insG	ENST00000380647.3	+	1	291_292	c.207_208insG	c.(208-210)gggfs	p.G70fs	CNTLN_ENST00000262360.5_Frame_Shift_Ins_p.G70fs|CNTLN_ENST00000484374.1_3'UTR|CNTLN_ENST00000425824.1_Frame_Shift_Ins_p.G70fs|CNTLN_ENST00000380641.4_Frame_Shift_Ins_p.G70fs			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	70					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GGCGAGGGCCTGGGGGGGCAGC	0.688													GGGGGGG|GGGGGGG|GGGGGGGG|insertion	3	0.000599042	0.0	0.0014	5008	,	,		14601	0.0		0.002	False		,,,				2504	0.0																0																																										SO:0001589	frameshift_variant	0			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.214dupG	9.37:g.17135277_17135277dupG	ENSP00000370021:p.Gly70fs		A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Frame_Shift_Ins	INS	superfamily_Prefoldin	p.A71fs	ENST00000380647.3	37	c.207_208	CCDS43789.1	9																																																																																			CNTLN	-	NULL	ENSG00000044459		0.688	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTLN	HGNC	protein_coding	OTTHUMT00000051793.3		0.00	20	0	-	NM_017738		17135271	+1	tier1		no_errors	ENST00000380647	ensembl	human	known	74_37	frame_shift_ins	40.00	15	10	INS	0.002:0.002	G
CNTNAP5	129684	genome.wustl.edu	37	2	124783303	124783303	+	Missense_Mutation	SNP	A	A	T			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr2:124783303A>T	ENST00000431078.1	+	1	440	c.76A>T	c.(76-78)Aca>Tca	p.T26S	AC079154.1_ENST00000438816.1_RNA|CNTNAP5_ENST00000423939.2_3'UTR	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	26					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ATTAACAGCGACAAACTGTGA	0.512																																																	0													88.0	91.0	90.0					2																	124783303		1988	4156	6144	SO:0001583	missense	0			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.76A>T	2.37:g.124783303A>T	ENSP00000399013:p.Thr26Ser		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.T26S	ENST00000431078.1	37	c.76	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	A	9.540	1.113169	0.20795	.	.	ENSG00000155052	ENST00000431078	D	0.87334	-2.24	5.43	3.01	0.34805	.	0.000000	0.49916	D	0.000127	T	0.74245	0.3691	L	0.27053	0.805	0.32224	N	0.574795	B	0.14805	0.011	B	0.10450	0.005	T	0.63287	-0.6671	10	0.14656	T	0.56	.	5.5208	0.16931	0.765:0.0:0.0831:0.1519	.	26	Q8WYK1	CNTP5_HUMAN	S	26	ENSP00000399013:T26S	ENSP00000399013:T26S	T	+	1	0	CNTNAP5	124499773	0.981000	0.34729	1.000000	0.80357	0.956000	0.61745	1.429000	0.34903	0.343000	0.23821	0.459000	0.35465	ACA	CNTNAP5	-	NULL	ENSG00000155052		0.512	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	-	0.00	64	0	A			124783303	+1	tier1	-	no_errors	ENST00000431078	ensembl	human	known	74_37	missense	29.23	45	19	SNP	1.000	T
CSMD1	64478	genome.wustl.edu	37	8	2910146	2910146	+	Missense_Mutation	SNP	A	A	G			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr8:2910146A>G	ENST00000520002.1	-	51	8056	c.7501T>C	c.(7501-7503)Tcc>Ccc	p.S2501P	CSMD1_ENST00000537824.1_Missense_Mutation_p.S2500P|CSMD1_ENST00000602723.1_Missense_Mutation_p.S2501P|CSMD1_ENST00000400186.3_Missense_Mutation_p.S2501P|CSMD1_ENST00000542608.1_Missense_Mutation_p.S2500P|CSMD1_ENST00000602557.1_Missense_Mutation_p.S2501P			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2501	Sushi 15. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTTCCTGGGGATTCTGGGATT	0.403																																																	0													40.0	38.0	39.0					8																	2910146		1830	4100	5930	SO:0001583	missense	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.7501T>C	8.37:g.2910146A>G	ENSP00000430733:p.Ser2501Pro		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.S2501P	ENST00000520002.1	37	c.7501		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.89|13.89	2.371712|2.371712	0.42003|0.42003	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.|T;T;T;T	.|0.64085	.|-0.08;-0.08;-0.08;-0.08	5.13|5.13	2.75|2.75	0.32379|0.32379	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.146399	.|0.46758	.|D	.|0.000271	T|T	0.40322|0.40322	0.1112|0.1112	N|N	0.17594|0.17594	0.5|0.5	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.09022	.|0.0;0.0;0.002	.|B;B;B	.|0.12156	.|0.001;0.007;0.007	T|T	0.08472|0.08472	-1.0720|-1.0720	5|10	.|0.20519	.|T	.|0.43	.|.	7.7501|7.7501	0.28892|0.28892	0.7039:0.1736:0.0:0.1224|0.7039:0.1736:0.0:0.1224	.|.	.|2501;2501;2500	.|E5RIG2;Q96PZ7;F5H2I8	.|.;CSMD1_HUMAN;.	T|P	1917|2501;2501;2362;2500;2500	.|ENSP00000383047:S2501P;ENSP00000430733:S2501P;ENSP00000441462:S2500P;ENSP00000446243:S2500P	.|ENSP00000320445:S2362P	I|S	-|-	2|1	0|0	CSMD1|CSMD1	2897553|2897553	0.287000|0.287000	0.24315|0.24315	0.994000|0.994000	0.49952|0.49952	0.969000|0.969000	0.65631|0.65631	-0.165000|-0.165000	0.09968|0.09968	0.349000|0.349000	0.23975|0.23975	0.528000|0.528000	0.53228|0.53228	ATC|TCC	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000183117		0.403	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	-	0.00	49	0	A	NM_033225		2910146	-1	tier1	-	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	10.77	58	7	SNP	0.999	G
CYP1A1	1543	genome.wustl.edu	37	15	75015146	75015146	+	Missense_Mutation	SNP	C	C	T	rs368952331		TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr15:75015146C>T	ENST00000379727.3	-	2	491	c.293G>A	c.(292-294)cGg>cAg	p.R98Q	CYP1A1_ENST00000395049.4_Missense_Mutation_p.R98Q|CYP1A1_ENST00000564596.1_Intron|CYP1A1_ENST00000395048.2_Missense_Mutation_p.R98Q|CYP1A1_ENST00000567032.1_Missense_Mutation_p.R98Q			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	98					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	ATCGCCCTGCCGCACCAGGGC	0.617									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																																								0								C	GLN/ARG	1,4393	2.1+/-5.4	0,1,2196	46.0	43.0	44.0		293	1.9	1.0	15		44	0,8590		0,0,4295	no	missense	CYP1A1	NM_000499.3	43	0,1,6491	TT,TC,CC		0.0,0.0228,0.0077	benign	98/513	75015146	1,12983	2197	4295	6492	SO:0001583	missense	0	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"""Cytochrome P450s"""	2595	protein-coding gene	gene with protein product		108330	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"""	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.293G>A	15.37:g.75015146C>T	ENSP00000369050:p.Arg98Gln		A4F3V9|A4F3W0|Q53G18	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP1,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.R98Q	ENST00000379727.3	37	c.293	CCDS10268.1	15	.	.	.	.	.	.	.	.	.	.	C	10.65	1.409688	0.25465	2.28E-4	0.0	ENSG00000140465	ENST00000379727;ENST00000395048;ENST00000395049;ENST00000268062	T;T;T	0.68331	-0.32;-0.32;-0.32	5.23	1.86	0.25419	.	0.305630	0.38111	N	0.001804	T	0.48277	0.1491	L	0.28740	0.885	0.28780	N	0.899885	B;B	0.32876	0.008;0.388	B;B	0.26517	0.027;0.07	T	0.44065	-0.9352	10	0.42905	T	0.14	.	9.882	0.41238	0.0:0.6594:0.0:0.3406	.	98;98	E7EMT5;P04798	.;CP1A1_HUMAN	Q	98	ENSP00000369050:R98Q;ENSP00000378488:R98Q;ENSP00000378489:R98Q	ENSP00000268062:R98Q	R	-	2	0	CYP1A1	72802199	0.910000	0.30920	0.991000	0.47740	0.635000	0.38103	0.998000	0.29744	0.576000	0.29452	-0.368000	0.07277	CGG	CYP1A1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I	ENSG00000140465		0.617	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP1A1	HGNC	protein_coding	OTTHUMT00000286396.1	-	0.00	60	0	C	NM_000499		75015146	-1	tier1	-	no_errors	ENST00000379727	ensembl	human	known	74_37	missense	16.50	86	17	SNP	0.932	T
DENND2C	163259	genome.wustl.edu	37	1	115167897	115167898	+	Frame_Shift_Ins	INS	-	-	T			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr1:115167897_115167898insT	ENST00000393274.1	-	4	1333_1334	c.708_709insA	c.(706-711)aaatacfs	p.Y237fs	DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Frame_Shift_Ins_p.Y237fs|DENND2C_ENST00000393277.1_Frame_Shift_Ins_p.Y237fs	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	237					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTTCACAGTATTTTTTGTCAC	0.381																																																	0																																										SO:0001589	frameshift_variant	0				CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.709dupA	1.37:g.115167903_115167903dupT	ENSP00000376955:p.Tyr237fs		B1AL26|Q5TCX6|Q6P3R3	Frame_Shift_Ins	INS	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.Y236fs	ENST00000393274.1	37	c.709_708	CCDS58018.1	1																																																																																			DENND2C	-	NULL	ENSG00000175984		0.381	DENND2C-005	KNOWN	basic|CCDS	protein_coding	DENND2C	HGNC	protein_coding	OTTHUMT00000314822.1		0.00	61	0	-	NM_198459		115167898	-1	tier1		no_errors	ENST00000393274	ensembl	human	known	74_37	frame_shift_ins	38.60	35	22	INS	0.959:0.957	T
DHTKD1	55526	genome.wustl.edu	37	10	12155007	12155007	+	Missense_Mutation	SNP	C	C	T	rs553531625		TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr10:12155007C>T	ENST00000263035.4	+	13	2325	c.2263C>T	c.(2263-2265)Cgg>Tgg	p.R755W		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	755					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			ACAGATGGTCCGGAACTTCAG	0.488													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18742	0.0		0.0	False		,,,				2504	0.0																0													145.0	129.0	134.0					10																	12155007		2203	4300	6503	SO:0001583	missense	0			BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.2263C>T	10.37:g.12155007C>T	ENSP00000263035:p.Arg755Trp		Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	pfam_Transketolase-like_Pyr-bd,pfam_DH_E1,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.R755W	ENST00000263035.4	37	c.2263	CCDS7087.1	10	.	.	.	.	.	.	.	.	.	.	C	21.1	4.102287	0.76983	.	.	ENSG00000181192	ENST00000263035	D	0.92446	-3.04	4.99	4.02	0.46733	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.95739	0.8614	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95977	0.8974	10	0.87932	D	0	-8.9311	12.9171	0.58213	0.2767:0.7233:0.0:0.0	.	755	Q96HY7	DHTK1_HUMAN	W	755	ENSP00000263035:R755W	ENSP00000263035:R755W	R	+	1	2	DHTKD1	12195013	0.989000	0.36119	0.992000	0.48379	0.969000	0.65631	2.667000	0.46808	2.322000	0.78497	0.655000	0.94253	CGG	DHTKD1	-	pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	ENSG00000181192		0.488	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHTKD1	HGNC	protein_coding	OTTHUMT00000046777.1	-	0.00	75	0	C	NM_018706		12155007	+1	tier1	-	no_errors	ENST00000263035	ensembl	human	known	74_37	missense	27.03	81	30	SNP	0.993	T
DRC1	92749	genome.wustl.edu	37	2	26654871	26654871	+	Silent	SNP	G	G	A			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr2:26654871G>A	ENST00000288710.2	+	7	959	c.885G>A	c.(883-885)gtG>gtA	p.V295V	DRC1_ENST00000483675.1_3'UTR	NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	295					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											AGCAGGATGTGCAGGTGCAAC	0.483																																																	0													100.0	82.0	88.0					2																	26654871		2203	4300	6503	SO:0001819	synonymous_variant	0			AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"""chromosome 2 open reading frame 39"", ""coiled-coil domain containing 164"", ""dynein regulatory complex subunit 1 homolog (Chlamydomonas)"""	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.885G>A	2.37:g.26654871G>A			A8K1N8|Q53R91|Q53TA3|Q8NDI5	Silent	SNP	NULL	p.V295	ENST00000288710.2	37	c.885	CCDS1723.1	2																																																																																			DRC1	-	NULL	ENSG00000157856		0.483	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRC1	HGNC	protein_coding	OTTHUMT00000246862.1	-	0.00	30	0	G	NM_145038		26654871	+1	tier1	-	no_errors	ENST00000288710	ensembl	human	known	74_37	silent	27.27	24	9	SNP	0.999	A
DRD5	1816	genome.wustl.edu	37	4	9784785	9784785	+	Missense_Mutation	SNP	T	T	G			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr4:9784785T>G	ENST00000304374.2	+	1	1528	c.1132T>G	c.(1132-1134)Ttc>Gtc	p.F378V		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	378					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.F378V(4)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GTGCAGCCACTTCTGCTCCCG	0.562																																																	4	Substitution - Missense(4)	skin(2)|NS(1)|endometrium(1)											63.0	55.0	57.0					4																	9784785		2203	4300	6503	SO:0001583	missense	0			X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.1132T>G	4.37:g.9784785T>G	ENSP00000306129:p.Phe378Val		B2R9S3|Q8NEQ8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Dopamine_D5_rcpt,prints_Dopamine_rcpt	p.F378V	ENST00000304374.2	37	c.1132	CCDS3405.1	4	.	.	.	.	.	.	.	.	.	.	t	1.422	-0.572511	0.03882	.	.	ENSG00000169676	ENST00000304374	T	0.36878	1.23	4.73	-0.492	0.12041	.	1.972870	0.02341	N	0.074845	T	0.21103	0.0508	N	0.17474	0.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10109	-1.0644	10	0.16420	T	0.52	.	4.5978	0.12338	0.0:0.3044:0.1738:0.5218	.	378	P21918	DRD5_HUMAN	V	378	ENSP00000306129:F378V	ENSP00000306129:F378V	F	+	1	0	DRD5	9393883	0.067000	0.21026	0.022000	0.16811	0.197000	0.23852	0.558000	0.23469	-0.022000	0.13986	-2.216000	0.00297	TTC	DRD5	-	NULL	ENSG00000169676		0.562	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRD5	HGNC	protein_coding	OTTHUMT00000250293.1		0.00	61	0	T			9784785	+1			no_errors	ENST00000304374	ensembl	human	known	74_37	missense	5.83	96	6	SNP	0.043	G
E2F4	1874	genome.wustl.edu	37	16	67229793	67229794	+	In_Frame_Ins	INS	-	-	CAG	rs3830472|rs552823502|rs562856782		TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr16:67229793_67229794insCAG	ENST00000379378.3	+	7	976_977	c.917_918insCAG	c.(916-921)gacagc>gaCAGcagc	p.319_320insS		NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	319	Poly-Ser.		S -> SSSS.		blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.S319_N320insS(1)		breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		GCCCTGCTGGAcagcagcagca	0.604																																																	1	Insertion - In frame(1)	breast(1)																																								SO:0001652	inframe_insertion	0			BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975	ENST00000379378.3:c.954_956dupCAG	16.37:g.67229800_67229802dupCAG	ENSP00000368686:p.Ser320_Ser321dup		A6NGR8|B5BU56|Q12991|Q15328	In_Frame_Ins	INS	pfam_E2F_TDP	p.310in_frame_insS	ENST00000379378.3	37	c.917_918	CCDS32464.1	16																																																																																			E2F4	-	NULL	ENSG00000205250		0.604	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	E2F4	HGNC	protein_coding	OTTHUMT00000421565.1		0.00	63	0	-	NM_001950		67229794	+1	tier1		no_errors	ENST00000379378	ensembl	human	known	74_37	in_frame_ins	11.11	64	8	INS	1.000:0.995	CAG
RP11-754I20.1	0	genome.wustl.edu	37	14	19117123	19117123	+	RNA	SNP	G	G	A	rs533885358		TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr14:19117123G>A	ENST00000553170.1	+	0	278				RNU6-458P_ENST00000384179.1_RNA																							TGGCCATAAGGAAAAGAAGTG	0.308													G|||	1	0.000199681	0.0	0.0	5008	,	,		30990	0.0		0.0	False		,,,				2504	0.001																0																																												0																															14.37:g.19117123G>A				RNA	SNP	-	NULL	ENST00000553170.1	37	NULL		14																																																																																			RP11-754I20.1	-	-	ENSG00000215398		0.308	RP11-754I20.1-002	KNOWN	basic	processed_transcript	ENSG00000215398	Clone_based_vega_gene	pseudogene	OTTHUMT00000408394.1	-	0.00	142	0	G			19117123	+1	tier1	-	no_errors	ENST00000553170	ensembl	human	known	74_37	rna	19.23	147	35	SNP	0.008	A
AC078851.1	0	genome.wustl.edu	37	2	140584271	140584271	+	lincRNA	SNP	G	G	C			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr2:140584271G>C	ENST00000415918.1	-	0	0				AC078851.2_ENST00000408147.1_RNA																							GTAGTTAttagaatggtgcaa	0.299																																																	0																																												0																															2.37:g.140584271G>C				RNA	SNP	-	NULL	ENST00000415918.1	37	NULL		2																																																																																			AC078851.2	-	-	ENSG00000221074		0.299	AC078851.1-001	KNOWN	basic	lincRNA	ENSG00000221074	Clone_based_ensembl_gene	lincRNA	OTTHUMT00000331967.1	-	0.00	45	0	G			140584271	+1	tier1	-	no_errors	ENST00000408147	ensembl	human	novel	74_37	rna	27.08	35	13	SNP	0.040	C
AC011718.2	0	genome.wustl.edu	37	22	20639449	20639450	+	lincRNA	INS	-	-	TA	rs544044522|rs201855843	byFrequency	TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr22:20639449_20639450insTA	ENST00000577456.1	-	0	2110_2111																											ctttttttttttatatatactt	0.421																																																	0																																												0																															22.37:g.20639456_20639457dupTA				RNA	INS	-	NULL	ENST00000577456.1	37	NULL		22																																																																																			AC011718.2	-	-	ENSG00000223579		0.421	AC011718.2-004	KNOWN	basic	lincRNA	ENSG00000223579	Clone_based_vega_gene	lincRNA	OTTHUMT00000444810.1		0.00	15	0	0			20639450	-1			no_errors	ENST00000577456	ensembl	human	known	74_37	rna	25.00	24	8	INS	0.984:0.986	TA
RP3-470B24.5	0	genome.wustl.edu	37	6	168376971	168376972	+	lincRNA	INS	-	-	A			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr6:168376971_168376972insA	ENST00000538528.1	-	0	647_648																											AGTGTGTTGGGAGGAGGAGGCA	0.639																																																	0										41,2507		5,31,1238						0.9	0.0			16	155,4577		18,119,2229	no	frameshift	HGC6.3	NM_001129895.2		23,150,3467	A1A1,A1R,RR		3.2756,1.6091,2.6923				196,7084						0																															6.37:g.168376972_168376972dupA				RNA	INS	-	NULL	ENST00000538528.1	37	NULL		6																																																																																			RP3-470B24.5	-	-	ENSG00000235994		0.639	RP3-470B24.5-201	KNOWN	basic	lincRNA	ENSG00000235994	Clone_based_vega_gene	lincRNA			0.00	67	0	0			168376972	-1			no_errors	ENST00000538528	ensembl	human	known	74_37	rna	9.68	112	12	INS	0.096:0.110	A
RAB8A	4218	genome.wustl.edu	37	19	16244263	16244264	+	3'UTR	INS	-	-	TTT	rs113608762|rs202121639		TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr19:16244263_16244264insTTT	ENST00000300935.3	+	0	2046_2047				CTD-2231E14.8_ENST00000599676.1_RNA|HSH2D_ENST00000593154.2_5'Flank|HSH2D_ENST00000397372.4_5'Flank|HSH2D_ENST00000253680.6_5'Flank|CTD-2231E14.8_ENST00000597983.1_RNA	NM_005370.4	NP_005361.2	P61006	RAB8A_HUMAN	RAB8A, member RAS oncogene family						axonogenesis (GO:0007409)|cellular response to insulin stimulus (GO:0032869)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi vesicle fusion to target membrane (GO:0048210)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein transport (GO:0051223)|small GTPase mediated signal transduction (GO:0007264)|vesicle docking involved in exocytosis (GO:0006904)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nonmotile primary cilium (GO:0031513)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)|recycling endosome membrane (GO:0055038)|trans-Golgi network transport vesicle (GO:0030140)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	8						ttttttctttcttttttttttt	0.45																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS12339.1	19p13.2-p13.1	2008-05-14	2004-01-30	2004-01-30		ENSG00000167461		"""RAB, member RAS oncogene"""	7007	protein-coding gene	gene with protein product		165040	"""mel transforming oncogene (derived from cell line NK14)"""	MEL		1886711, 8408203	Standard	NM_005370		Approved	RAB8	uc002ndn.4	P61006		ENST00000300935.3:c.*1150->TTT	19.37:g.16244270_16244272dupTTT			B4DEK7|P24407|Q6FHV5	RNA	INS	-	NULL	ENST00000300935.3	37	NULL	CCDS12339.1	19																																																																																			CTD-2231E14.8	-	-	ENSG00000269243		0.450	RAB8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000269243	Clone_based_vega_gene	protein_coding	OTTHUMT00000460186.1		0.00	14	0	-	NM_005370		16244264	-1	tier1		no_errors	ENST00000599676	ensembl	human	known	74_37	rna	12.00	22	3	INS	0.000:0.000	TTT
CTD-2626G11.2	0	genome.wustl.edu	37	19	20932956	20932956	+	lincRNA	SNP	G	G	T			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr19:20932956G>T	ENST00000593903.1	-	0	5100																											aagcacacgagttacttcatg	0.463																																																	0																																												0																															19.37:g.20932956G>T				RNA	SNP	-	NULL	ENST00000593903.1	37	NULL		19																																																																																			CTD-2626G11.2	-	-	ENSG00000268416		0.463	CTD-2626G11.2-001	KNOWN	basic	lincRNA	ENSG00000268416	Clone_based_vega_gene	lincRNA	OTTHUMT00000463423.1	-	0.00	15	0	G			20932956	-1	tier1	-	no_errors	ENST00000593903	ensembl	human	known	74_37	rna	50.00	7	7	SNP	0.000	T
FAM86DP	692099	genome.wustl.edu	37	3	75471400	75471400	+	RNA	SNP	C	C	T			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr3:75471400C>T	ENST00000459803.1	-	0	1741					NR_024241.1				family with sequence similarity 86, member D, pseudogene																		TGGCCAGAAGCTGAAATGACG	0.577																																																	0																																												0			BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75471400C>T				RNA	SNP	-	NULL	ENST00000459803.1	37	NULL		3																																																																																			FAM86DP	-	-	ENSG00000244026		0.577	FAM86DP-003	KNOWN	basic	processed_transcript	FAM86DP	HGNC	pseudogene	OTTHUMT00000352425.1		0.00	82	0	C	NR_024241		75471400	-1			no_errors	ENST00000459803	ensembl	human	known	74_37	rna	5.41	70	4	SNP	0.001	T
GABRA3	2556	genome.wustl.edu	37	X	151424445	151424445	+	Missense_Mutation	SNP	C	C	T			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chrX:151424445C>T	ENST00000370314.4	-	5	594	c.356G>A	c.(355-357)cGg>cAg	p.R119Q	GABRA3_ENST00000535043.1_Missense_Mutation_p.R119Q	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	119					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	CCATGTCTGCCGAAAAAATAC	0.428																																					NSCLC(142;2578 2613 10251 16743)												0													105.0	88.0	94.0					X																	151424445		2203	4300	6503	SO:0001583	missense	0				CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4077	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 3"""	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.356G>A	X.37:g.151424445C>T	ENSP00000359337:p.Arg119Gln		Q8TAF9	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa3_rcpt,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.R119Q	ENST00000370314.4	37	c.356	CCDS14706.1	X	.	.	.	.	.	.	.	.	.	.	C	32	5.137175	0.94517	.	.	ENSG00000011677	ENST00000370314;ENST00000370311;ENST00000535043;ENST00000417858	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	5.39	5.39	0.77823	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.88588	0.6477	M	0.84082	2.675	0.54753	D	0.999987	D	0.71674	0.998	D	0.79108	0.992	D	0.90301	0.4330	10	0.87932	D	0	.	15.4477	0.75243	0.0:1.0:0.0:0.0	.	119	P34903	GBRA3_HUMAN	Q	119;119;119;9	ENSP00000359337:R119Q;ENSP00000359334:R119Q;ENSP00000443527:R119Q;ENSP00000413772:R9Q	ENSP00000359334:R119Q	R	-	2	0	GABRA3	151175101	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.770000	0.85390	2.241000	0.73720	0.544000	0.68410	CGG	GABRA3	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel	ENSG00000011677		0.428	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA3	HGNC	protein_coding	OTTHUMT00000060921.1	-	0.00	46	0	C	NM_000808		151424445	-1	tier1	-	no_errors	ENST00000370314	ensembl	human	known	74_37	missense	28.30	38	15	SNP	1.000	T
GARNL3	84253	genome.wustl.edu	37	9	130005496	130005496	+	IGR	SNP	G	G	A			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr9:130005496G>A								RALGPS1 (20053 upstream) : GARNL3 (20444 downstream)																							CATGGCCAACGAAAGACCCTG	0.453																																																	0													60.0	55.0	57.0					9																	130005496		876	1991	2867	SO:0001628	intergenic_variant	0																															9.37:g.130005496G>A				Silent	SNP	NULL	p.T37		37	c.111		9																																																																																			GARNL3	-	NULL	ENSG00000136895	0	0.453					GARNL3	HGNC			-	0.00	59	0	G			130005496	+1	tier1	-	no_errors	ENST00000429629	ensembl	human	known	74_37	silent	27.85	57	22	SNP	0.064	A
GNA12	2768	genome.wustl.edu	37	7	2802235	2802235	+	Intron	SNP	G	G	T			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr7:2802235G>T	ENST00000275364.3	-	3	688				GNA12_ENST00000407653.1_Silent_p.V96V|AMZ1_ENST00000489665.1_Intron|GNA12_ENST00000396960.3_Silent_p.V24V|GNA12_ENST00000544127.1_Intron|GNA12_ENST00000407904.3_Intron|GNA12_ENST00000491117.1_Intron	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic digit morphogenesis (GO:0042733)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|platelet activation (GO:0030168)|regulation of cell shape (GO:0008360)|regulation of fibroblast migration (GO:0010762)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)|response to drug (GO:0042493)|Rho protein signal transduction (GO:0007266)	brush border membrane (GO:0031526)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		CCCAAAAAAGGACAATCCCCT	0.463																																																	0													26.0	25.0	26.0					7																	2802235		876	1991	2867	SO:0001627	intron_variant	0			L01694	CCDS5335.1, CCDS64584.1, CCDS64583.1	7p22.3	2006-07-08			ENSG00000146535	ENSG00000146535			4380	protein-coding gene	gene with protein product		604394				8423800, 16247467	Standard	NM_007353		Approved	gep	uc003smu.3	Q03113	OTTHUMG00000023064	ENST00000275364.3:c.526-29100C>A	7.37:g.2802235G>T			A4D204|B3KXS2|B7Z3F7|Q2T9L1|Q5PPR5|Q86UM8|Q8TD71|Q9UDU9	Silent	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su	p.V24	ENST00000275364.3	37	c.72	CCDS5335.1	7																																																																																			GNA12	-	smart_Gprotein_alpha_su	ENSG00000146535		0.463	GNA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA12	HGNC	protein_coding	OTTHUMT00000241608.1		0.00	40	0	G	NM_007353		2802235	-1			no_errors	ENST00000396960	ensembl	human	known	74_37	silent	5.56	51	3	SNP	0.001	T
GOLGA5	9950	genome.wustl.edu	37	14	93275649	93275649	+	Silent	SNP	A	A	G			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr14:93275649A>G	ENST00000163416.2	+	4	1033	c.777A>G	c.(775-777)ttA>ttG	p.L259L	GOLGA5_ENST00000355976.2_Silent_p.L259L	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	259					Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		TAATAGAATTAAACAAAGCAA	0.378			T	RET	papillary thyroid																																			Dom	yes		14	14q	9950	"""golgi autoantigen, golgin subfamily a, 5  (PTC5)"""		E	0													33.0	33.0	33.0					14																	93275649		2203	4299	6502	SO:0001819	synonymous_variant	0			AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"""golgi integral membrane protein 5"""	606918	"""golgi autoantigen, golgin subfamily a, 5"""			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.777A>G	14.37:g.93275649A>G			C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Silent	SNP	pfam_Golgin_subfamily_A_member_5,superfamily_Prefoldin	p.L259	ENST00000163416.2	37	c.777	CCDS9905.1	14																																																																																			GOLGA5	-	pfam_Golgin_subfamily_A_member_5	ENSG00000066455		0.378	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA5	HGNC	protein_coding	OTTHUMT00000412365.1	-	0.00	23	0	A			93275649	+1	tier1	-	no_errors	ENST00000163416	ensembl	human	known	74_37	silent	44.00	14	11	SNP	1.000	G
GREB1	9687	genome.wustl.edu	37	2	11774344	11774344	+	Silent	SNP	G	G	A			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr2:11774344G>A	ENST00000381486.2	+	29	5379	c.5079G>A	c.(5077-5079)ctG>ctA	p.L1693L	GREB1_ENST00000234142.5_Silent_p.L1693L|GREB1_ENST00000396123.1_Silent_p.L691L	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1693						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ACTACGCCCTGCTGGGCCTGC	0.612																																					Ovarian(39;850 945 2785 23371 33093)												0													74.0	81.0	79.0					2																	11774344		2135	4241	6376	SO:0001819	synonymous_variant	0				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.5079G>A	2.37:g.11774344G>A			A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	superfamily_P-loop_NTPase	p.L1693	ENST00000381486.2	37	c.5079	CCDS42655.1	2																																																																																			GREB1	-	NULL	ENSG00000196208		0.612	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREB1	HGNC	protein_coding	OTTHUMT00000280490.1	-	0.00	47	0	G	NM_014668		11774344	+1	tier1	-	no_errors	ENST00000234142	ensembl	human	known	74_37	silent	20.45	35	9	SNP	0.131	A
GRIK1	2897	genome.wustl.edu	37	21	31023452	31023452	+	Missense_Mutation	SNP	C	C	A			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr21:31023452C>A	ENST00000399907.1	-	6	1351	c.940G>T	c.(940-942)Gat>Tat	p.D314Y	GRIK1_ENST00000327783.4_Missense_Mutation_p.D314Y|GRIK1_ENST00000389125.3_Missense_Mutation_p.D314Y|GRIK1_ENST00000399913.1_Missense_Mutation_p.D314Y|GRIK1_ENST00000535441.1_Missense_Mutation_p.D314Y|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399909.1_Missense_Mutation_p.D314Y|GRIK1_ENST00000399914.1_Missense_Mutation_p.D314Y|GRIK1_ENST00000389124.2_Missense_Mutation_p.D314Y|GRIK1_ENST00000309434.7_Missense_Mutation_p.D314Y	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	314					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	ATCATGCCATCCAAAAGGCCA	0.438																																																	0													59.0	57.0	58.0					21																	31023452		2203	4300	6503	SO:0001583	missense	0				CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.940G>T	21.37:g.31023452C>A	ENSP00000382791:p.Asp314Tyr		Q13001|Q86SU9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.D314Y	ENST00000399907.1	37	c.940	CCDS42913.1	21	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998335	0.74818	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	D;D;D;D;D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79	4.91	4.02	0.46733	Extracellular ligand-binding receptor (1);	0.155329	0.56097	D	0.000025	D	0.85318	0.5669	M	0.65498	2.005	0.58432	D	0.999993	P;D;B;D;D;P	0.56746	0.953;0.977;0.026;0.977;0.96;0.95	P;P;B;P;P;P	0.59595	0.86;0.86;0.026;0.86;0.789;0.781	T	0.81514	-0.0898	10	0.02654	T	1	.	13.8147	0.63283	0.0:0.9208:0.0:0.0792	.	314;314;314;314;314;314	E7EPY9;E9PD61;E7EPZ0;B7Z3V7;P39086;P39086-2	.;.;.;.;GRIK1_HUMAN;.	Y	314;314;314;314;314;258;314;314;314;314	ENSP00000327687:D314Y;ENSP00000373777:D314Y;ENSP00000382797:D314Y;ENSP00000382798:D314Y;ENSP00000446326:D314Y;ENSP00000373776:D314Y;ENSP00000382791:D314Y;ENSP00000382793:D314Y;ENSP00000311646:D314Y	ENSP00000311646:D314Y	D	-	1	0	GRIK1	29945323	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.393000	0.59665	2.693000	0.91896	0.655000	0.94253	GAT	GRIK1	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000171189		0.438	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIK1	HGNC	protein_coding	OTTHUMT00000171979.1	-	0.00	41	0	C			31023452	-1	tier1	-	no_errors	ENST00000535441	ensembl	human	known	74_37	missense	34.38	21	11	SNP	1.000	A
HDAC6	10013	genome.wustl.edu	37	X	48664042	48664042	+	Missense_Mutation	SNP	G	G	A			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chrX:48664042G>A	ENST00000334136.5	+	6	579	c.401G>A	c.(400-402)cGg>cAg	p.R134Q	HDAC6_ENST00000376619.2_Missense_Mutation_p.R134Q|HDAC6_ENST00000469223.1_3'UTR|HDAC6_ENST00000444343.2_Missense_Mutation_p.R148Q|HDAC6_ENST00000413163.2_Missense_Mutation_p.R79Q			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	134	Histone deacetylase 1.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	CCCCAGGCCCGGTTTGCTGAA	0.572																																					Pancreas(112;205 1675 2305 8976 15959)												0													79.0	58.0	65.0					X																	48664042		2194	4282	6476	SO:0001583	missense	0			AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.401G>A	X.37:g.48664042G>A	ENSP00000334061:p.Arg134Gln		O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse	p.R148Q	ENST00000334136.5	37	c.443	CCDS14306.1	X	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595587	0.66219	.	.	ENSG00000094631	ENST00000423941;ENST00000376643;ENST00000444343;ENST00000376610;ENST00000334136;ENST00000376619;ENST00000436813;ENST00000413163;ENST00000441703;ENST00000426196;ENST00000443563;ENST00000440653	T;T;T;T;T;T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54	4.07	4.07	0.47477	Histone deacetylase domain (2);	0.093336	0.41823	D	0.000805	T	0.81173	0.4767	M	0.77313	2.365	0.48830	D	0.999719	D;D;D;P	0.67145	0.968;0.996;0.968;0.621	P;P;P;B	0.60789	0.476;0.879;0.476;0.084	D	0.83628	0.0143	10	0.56958	D	0.05	-17.4854	13.5819	0.61907	0.0:0.0:1.0:0.0	.	124;79;134;134	B4DZN1;E7EUZ1;Q9UBN7;Q9BRX7	.;.;HDAC6_HUMAN;.	Q	134;134;148;134;134;134;134;79;134;134;134;134	ENSP00000365831:R134Q;ENSP00000398566:R148Q;ENSP00000365795:R134Q;ENSP00000334061:R134Q;ENSP00000365804:R134Q;ENSP00000398801:R79Q;ENSP00000393916:R134Q;ENSP00000402189:R134Q;ENSP00000402751:R134Q;ENSP00000394377:R134Q	ENSP00000334061:R134Q	R	+	2	0	HDAC6	48548986	0.997000	0.39634	0.733000	0.30861	0.602000	0.36980	2.920000	0.48844	1.990000	0.58119	0.292000	0.19580	CGG	HDAC6	-	pfam_His_deacetylse_dom	ENSG00000094631		0.572	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HDAC6	HGNC	protein_coding	OTTHUMT00000083394.2	-	0.00	61	0	G	NM_006044		48664042	+1	tier1	-	no_errors	ENST00000444343	ensembl	human	known	74_37	missense	36.54	66	38	SNP	0.970	A
HES1	3280	genome.wustl.edu	37	3	193854764	193854764	+	Silent	SNP	C	C	T	rs376638002		TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr3:193854764C>T	ENST00000232424.3	+	3	455	c.219C>T	c.(217-219)tcC>tcT	p.S73S		NM_005524.3	NP_005515.1	P30042	ES1_HUMAN	hes family bHLH transcription factor 1	0						mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		CGCGGCATTCCAAGCTGGAGA	0.642																																																	0													68.0	70.0	69.0					3																	193854764		2203	4300	6503	SO:0001819	synonymous_variant	0			L19314	CCDS3305.1	3q28-q29	2013-10-17	2013-10-17	2003-01-10	ENSG00000114315	ENSG00000114315		"""Basic helix-loop-helix proteins"""	5192	protein-coding gene	gene with protein product		139605	"""hairy homolog (Drosophila)"", ""hairy and enhancer of split 1, (Drosophila)"""	HRY		8020957	Standard	NM_005524		Approved	FLJ20408, HES-1, Hes1, bHLHb39	uc003ftq.2	Q14469	OTTHUMG00000155984	ENST00000232424.3:c.219C>T	3.37:g.193854764C>T			A6NFJ6|A6NJY7|O00650|O00660|O15011|O15012|P55346|P78474|Q92505|Q92507	Silent	SNP	pfam_Orange,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom	p.S73	ENST00000232424.3	37	c.219	CCDS3305.1	3																																																																																			HES1	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	ENSG00000114315		0.642	HES1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HES1	HGNC	protein_coding	OTTHUMT00000342632.1	-	0.00	50	0	C			193854764	+1	tier1	-	no_errors	ENST00000232424	ensembl	human	known	74_37	silent	29.85	47	20	SNP	1.000	T
HIF3A	64344	genome.wustl.edu	37	19	46825047	46825047	+	Missense_Mutation	SNP	C	C	T	rs145421578		TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr19:46825047C>T	ENST00000377670.4	+	10	1190	c.1159C>T	c.(1159-1161)Cgg>Tgg	p.R387W	AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000244303.6_Missense_Mutation_p.R318W|HIF3A_ENST00000600383.1_Missense_Mutation_p.R318W|HIF3A_ENST00000339613.2_Missense_Mutation_p.R331W|HIF3A_ENST00000472815.1_Missense_Mutation_p.R318W|HIF3A_ENST00000420102.2_Missense_Mutation_p.R336W|HIF3A_ENST00000300862.3_Missense_Mutation_p.R385W	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	387					cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CCCTGGCCCCCGGATCCTTGC	0.682																																																	0								C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	55.0	67.0	63.0		952,1153,1159,952	3.3	1.0	19	dbSNP_134	63	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	HIF3A	NM_022462.4,NM_152794.3,NM_152795.3,NM_152796.2	101,101,101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	318/601,385/668,387/670,318/451	46825047	1,13005	2203	4300	6503	SO:0001583	missense	0			AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"""Basic helix-loop-helix proteins"""	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.1159C>T	19.37:g.46825047C>T	ENSP00000366898:p.Arg387Trp		B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_HIF_alpha_subunit,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,tigrfam_PAS	p.R387W	ENST00000377670.4	37	c.1159	CCDS12681.2	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.79|10.79	1.450480|1.450480	0.26074|0.26074	0.0|0.0	1.16E-4|1.16E-4	ENSG00000124440|ENSG00000124440	ENST00000472815|ENST00000244302;ENST00000377670;ENST00000244303;ENST00000339613;ENST00000291300;ENST00000300862;ENST00000420102	.|T;T;T;T;T	.|0.66995	.|0.49;-0.23;0.37;0.49;-0.24	4.43|4.43	3.32|3.32	0.38043|0.38043	.|.	.|1.992350	.|0.02375	.|N	.|0.078257	T|T	0.66436|0.66436	0.2789|0.2789	N|N	0.24115|0.24115	0.695|0.695	0.29837|0.29837	N|N	0.829522|0.829522	.|B;D;B;B;B;B;D	.|0.76494	.|0.033;0.999;0.004;0.013;0.003;0.003;0.995	.|B;P;B;B;B;B;P	.|0.53146	.|0.005;0.719;0.002;0.003;0.001;0.001;0.535	T|T	0.61525|0.61525	-0.7045|-0.7045	6|10	0.66056|0.66056	D|D	0.02|0.02	.|.	9.1512|9.1512	0.36965|0.36965	0.2172:0.7828:0.0:0.0|0.2172:0.7828:0.0:0.0	.|.	.|336;318;385;336;331;387;387	.|F5H884;B4DNA2;Q9Y2N7-2;B4DSD9;A8MPQ1;Q9Y2N7;B0M185	.|.;.;.;.;.;HIF3A_HUMAN;.	L|W	359|387;387;318;331;331;385;336	.|ENSP00000366898:R387W;ENSP00000244303:R318W;ENSP00000341877:R331W;ENSP00000300862:R385W;ENSP00000407771:R336W	ENSP00000434653:P359L|ENSP00000244302:R387W	P|R	+|+	2|1	0|2	HIF3A|HIF3A	51516887|51516887	0.835000|0.835000	0.29415|0.29415	1.000000|1.000000	0.80357|0.80357	0.289000|0.289000	0.27227|0.27227	0.829000|0.829000	0.27449|0.27449	2.482000|2.482000	0.83794|0.83794	0.655000|0.655000	0.94253|0.94253	CCG|CGG	HIF3A	-	NULL	ENSG00000124440		0.682	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIF3A	HGNC	protein_coding	OTTHUMT00000280556.3	-	0.00	64	0	C			46825047	+1	tier1	rs145421578	no_errors	ENST00000377670	ensembl	human	known	74_37	missense	36.00	64	36	SNP	0.999	T
HIST2H3PS2	440686	genome.wustl.edu	37	1	149398941	149398941	+	IGR	SNP	C	C	A			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr1:149398941C>A	ENST00000392948.2	-	0	412				HIST2H2BB_ENST00000609585.1_RNA|RP5-998N21.10_ENST00000609879.1_RNA|RP5-998N21.7_ENST00000444624.1_RNA					histone cluster 2, H3, pseudogene 2											lung(1)|ovary(1)	2						GTGCGCCAGGCGGGACGCCTC	0.657																																																	0													32.0	30.0	31.0					1																	149398941		688	1556	2244	SO:0001628	intergenic_variant	0			AL109948		1q21.1	2012-04-11	2006-10-11		ENSG00000203818	ENSG00000203818		"""Histones / Replication-dependent"""	32060	pseudogene	pseudogene			"""histone 2, H3, pseudogene 2"""				Standard	NG_012783		Approved	p06			OTTHUMG00000041033		1.37:g.149398941C>A				RNA	SNP	-	NULL	ENST00000392948.2	37	NULL		1																																																																																			HIST2H2BB	-	-	ENSG00000240929		0.657	HIST2H3PS2-001	PUTATIVE	basic|appris_principal	protein_coding	HIST2H2BB	HGNC	protein_coding	OTTHUMT00000098436.3	-	0.00	168	0	C	NG_012783		149398941	-1	tier1	-	no_errors	ENST00000609585	ensembl	human	known	74_37	rna	25.20	187	63	SNP	1.000	A
HMCN1	83872	genome.wustl.edu	37	1	185962324	185962324	+	Missense_Mutation	SNP	C	C	A			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr1:185962324C>A	ENST00000271588.4	+	23	3617	c.3388C>A	c.(3388-3390)Ctc>Atc	p.L1130I	HMCN1_ENST00000367492.2_Missense_Mutation_p.L1130I|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1130	Ig-like C2-type 8.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACACACATTCCTCCCTTCTGG	0.403																																																	0													150.0	144.0	146.0					1																	185962324		2203	4300	6503	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.3388C>A	1.37:g.185962324C>A	ENSP00000271588:p.Leu1130Ile		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.L1130I	ENST00000271588.4	37	c.3388	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.084586	0.76642	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.67523	-0.27;-0.27	5.96	5.96	0.96718	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.057166	0.64402	D	0.000001	T	0.77184	0.4093	L	0.58925	1.835	0.51767	D	0.999935	D;D	0.89917	0.988;1.0	P;D	0.85130	0.904;0.997	T	0.72246	-0.4349	10	0.25106	T	0.35	.	13.5822	0.61909	0.0:0.9293:0.0:0.0707	.	514;1130	Q96RW7-3;Q96RW7	.;HMCN1_HUMAN	I	1130	ENSP00000271588:L1130I;ENSP00000356462:L1130I	ENSP00000271588:L1130I	L	+	1	0	HMCN1	184228947	1.000000	0.71417	1.000000	0.80357	0.545000	0.35147	4.398000	0.59697	2.826000	0.97356	0.655000	0.94253	CTC	HMCN1	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000143341		0.403	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	-	0.00	36	0	C	NM_031935		185962324	+1	tier1	-	no_errors	ENST00000271588	ensembl	human	known	74_37	missense	19.61	41	10	SNP	1.000	A
IGSF9B	22997	genome.wustl.edu	37	11	133791054	133791054	+	Missense_Mutation	SNP	C	C	T			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr11:133791054C>T	ENST00000321016.8	-	18	2796	c.2566G>A	c.(2566-2568)Ggc>Agc	p.G856S	IGSF9B_ENST00000533871.2_Missense_Mutation_p.G856S			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	856					homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		ACGAAGCGGCCGTCAGGGCCT	0.652																																																	0													62.0	69.0	67.0					11																	133791054		2117	4221	6338	SO:0001583	missense	0			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.2566G>A	11.37:g.133791054C>T	ENSP00000317980:p.Gly856Ser		G5EA26	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G856S	ENST00000321016.8	37	c.2566		11	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502532	0.85176	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	D;D	0.85955	-1.81;-2.05	4.47	4.47	0.54385	.	0.000000	0.45361	D	0.000363	D	0.91365	0.7276	M	0.68593	2.085	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.92527	0.6030	10	0.87932	D	0	.	16.9242	0.86172	0.0:1.0:0.0:0.0	.	856	Q9UPX0	TUTLB_HUMAN	S	856;698	ENSP00000317980:G856S;ENSP00000436552:G698S	ENSP00000317980:G856S	G	-	1	0	IGSF9B	133296264	1.000000	0.71417	0.954000	0.39281	0.844000	0.47949	5.586000	0.67503	2.320000	0.78422	0.561000	0.74099	GGC	IGSF9B	-	NULL	ENSG00000080854		0.652	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	IGSF9B	HGNC	protein_coding		-	0.00	51	0	C	XM_290502		133791054	-1	tier1	-	no_errors	ENST00000321016	ensembl	human	known	74_37	missense	35.71	45	25	SNP	1.000	T
IMPG2	50939	genome.wustl.edu	37	3	100963578	100963578	+	Missense_Mutation	SNP	A	A	G			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr3:100963578A>G	ENST00000193391.7	-	13	1784	c.1597T>C	c.(1597-1599)Tca>Cca	p.S533P		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	533					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	AATGAACTTGAAGGCAATGAA	0.353																																																	0													87.0	80.0	82.0					3																	100963578		2203	4300	6503	SO:0001583	missense	0			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.1597T>C	3.37:g.100963578A>G	ENSP00000193391:p.Ser533Pro		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.S533P	ENST00000193391.7	37	c.1597	CCDS2940.1	3	.	.	.	.	.	.	.	.	.	.	A	18.09	3.546379	0.65198	.	.	ENSG00000081148	ENST00000193391	T	0.28895	1.59	5.66	5.66	0.87406	.	0.221927	0.31909	N	0.006873	T	0.44244	0.1284	L	0.34521	1.04	0.37176	D	0.903286	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.973	T	0.51442	-0.8705	10	0.59425	D	0.04	-9.0676	14.4518	0.67389	1.0:0.0:0.0:0.0	.	533;533	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	P	533	ENSP00000193391:S533P	ENSP00000193391:S533P	S	-	1	0	IMPG2	102446268	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	5.460000	0.66691	2.151000	0.67156	0.533000	0.62120	TCA	IMPG2	-	NULL	ENSG00000081148		0.353	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG2	HGNC	protein_coding	OTTHUMT00000353256.3	-	0.00	38	0	A			100963578	-1	tier1	-	no_errors	ENST00000193391	ensembl	human	known	74_37	missense	42.86	16	12	SNP	1.000	G
KIF26B	55083	genome.wustl.edu	37	1	245849060	245849060	+	Silent	SNP	G	G	A	rs368334439		TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr1:245849060G>A	ENST00000407071.2	+	12	3215	c.2775G>A	c.(2773-2775)acG>acA	p.T925T	KIF26B_ENST00000366518.4_Silent_p.T544T	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	925					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AGTGCAACACGTTTGCCGAGC	0.642																																																	0								G		0,3914		0,0,1957	18.0	21.0	20.0		2775	-4.6	0.1	1		20	1,8275		0,1,4137	no	coding-synonymous	KIF26B	NM_018012.3		0,1,6094	AA,AG,GG		0.0121,0.0,0.0082		925/2109	245849060	1,12189	1957	4138	6095	SO:0001819	synonymous_variant	0			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.2775G>A	1.37:g.245849060G>A			Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.T925	ENST00000407071.2	37	c.2775	CCDS44342.1	1																																																																																			KIF26B	-	NULL	ENSG00000162849		0.642	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1	-	0.00	22	0	G	XM_371354		245849060	+1	tier1	-	no_errors	ENST00000407071	ensembl	human	known	74_37	silent	19.05	34	8	SNP	0.451	A
KREMEN1	83999	genome.wustl.edu	37	22	29490307	29490307	+	Silent	SNP	C	C	T	rs371152545		TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr22:29490307C>T	ENST00000407188.1	+	2	153	c.153C>T	c.(151-153)ggC>ggT	p.G51G	KREMEN1_ENST00000327813.5_Silent_p.G53G|KREMEN1_ENST00000400338.2_Silent_p.G53G|KREMEN1_ENST00000400335.4_Silent_p.G53G			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	51	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				cell communication (GO:0007154)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						CACTACAAGGCGGGAAGCCAT	0.483																																																	0								C	,	0,3844		0,0,1922	113.0	110.0	111.0		159,159	-4.6	1.0	22		111	1,8259		0,1,4129	no	coding-synonymous,coding-synonymous	KREMEN1	NM_001039570.2,NM_032045.4	,	0,1,6051	TT,TC,CC		0.0121,0.0,0.0083	,	53/459,53/493	29490307	1,12103	1922	4130	6052	SO:0001819	synonymous_variant	0			AB059618	CCDS43000.1, CCDS13849.1, CCDS43000.2	22q12.1	2008-03-27	2002-11-13	2002-11-15	ENSG00000183762	ENSG00000183762			17550	protein-coding gene	gene with protein product		609898	"""kringle containing transmembrane protein"""	KREMEN		11267660	Standard	NM_001039570		Approved	KRM1	uc011akm.1	Q96MU8	OTTHUMG00000030987	ENST00000407188.1:c.153C>T	22.37:g.29490307C>T			B0QY46|B0QY47|B1AJR5|Q5TIB9|Q6P3X6|Q9BY70|Q9UGS5|Q9UGU1	Silent	SNP	pirsf_Kremen,pfam_Kringle,pfam_WSC_carb-bd,pfam_CUB_dom,superfamily_Kringle-like,superfamily_CUB_dom,superfamily_Scorpion_toxin-like,smart_Kringle,smart_WSC_carb-bd_subgr,smart_CUB_dom,pfscan_CUB_dom,pfscan_Kringle,pfscan_WSC_carb-bd	p.G53	ENST00000407188.1	37	c.159	CCDS43000.2	22																																																																																			KREMEN1	-	pirsf_Kremen,pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle	ENSG00000183762		0.483	KREMEN1-004	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	KREMEN1	HGNC	protein_coding	OTTHUMT00000320947.1	-	0.00	45	0	C			29490307	+1	tier1	-	no_errors	ENST00000327813	ensembl	human	known	74_37	silent	31.15	42	19	SNP	0.806	T
KRTAP4-7	100132476	genome.wustl.edu	37	17	39240566	39240566	+	Silent	SNP	G	G	A			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr17:39240566G>A	ENST00000391417.4	+	1	108	c.108G>A	c.(106-108)agG>agA	p.R36R		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	36	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						CCTGTTGCAGGACCACCTGCT	0.652																																																	0													15.0	24.0	21.0					17																	39240566		691	1591	2282	SO:0001819	synonymous_variant	0			AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.108G>A	17.37:g.39240566G>A			A0AVM6|A8MQ08|A8MTL4	Silent	SNP	pfam_Keratin-assoc	p.R36	ENST00000391417.4	37	c.108	CCDS45673.1	17																																																																																			KRTAP4-7	-	pfam_Keratin-assoc	ENSG00000240871		0.652	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-7	HGNC	protein_coding	OTTHUMT00000257686.1	-	0.00	202	0	G			39240566	+1	tier1	-	no_errors	ENST00000391417	ensembl	human	known	74_37	silent	8.04	755	66	SNP	0.229	A
KRTAP4-7	100132476	genome.wustl.edu	37	17	39240594	39240594	+	Missense_Mutation	SNP	G	G	C			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr17:39240594G>C	ENST00000391417.4	+	1	136	c.136G>C	c.(136-138)Gtg>Ctg	p.V46L		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	46	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						CAGCTGTTGTGTGTCCAGCTG	0.657																																																	0													12.0	22.0	19.0					17																	39240594		684	1589	2273	SO:0001583	missense	0			AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.136G>C	17.37:g.39240594G>C	ENSP00000375236:p.Val46Leu		A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	pfam_Keratin-assoc	p.V46L	ENST00000391417.4	37	c.136	CCDS45673.1	17	.	.	.	.	.	.	.	.	.	.	.	7.833	0.720198	0.15372	.	.	ENSG00000240871;ENSG00000212722	ENST00000391417;ENST00000377734	T	0.01414	4.92	3.69	1.62	0.23740	.	2.106750	0.04557	U	0.390917	T	0.01387	0.0045	.	.	.	0.09310	N	1	B	0.14805	0.011	B	0.17098	0.017	T	0.49466	-0.8937	9	0.27082	T	0.32	.	7.4766	0.27380	0.229:0.0:0.771:0.0	.	46	Q9BYR0	KRA47_HUMAN	L	46	ENSP00000375236:V46L	ENSP00000375236:V46L	V	+	1	0	KRTAP4-9;KRTAP4-7	36494120	0.047000	0.20315	0.029000	0.17559	0.435000	0.31806	-0.492000	0.06467	0.159000	0.19401	0.305000	0.20034	GTG	KRTAP4-7	-	pfam_Keratin-assoc	ENSG00000240871		0.657	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-7	HGNC	protein_coding	OTTHUMT00000257686.1	-	0.00	220	0	G			39240594	+1	tier1	-	no_errors	ENST00000391417	ensembl	human	known	74_37	missense	7.92	848	73	SNP	0.050	C
KRTAP5-5	439915	genome.wustl.edu	37	11	1651158	1651169	+	In_Frame_Del	DEL	GGCTGTGGCTCT	GGCTGTGGCTCT	-	rs71454095|rs71454094	byFrequency	TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	GGCTGTGGCTCT	GGCTGTGGCTCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr11:1651158_1651169delGGCTGTGGCTCT	ENST00000399676.2	+	1	126_137	c.88_99delGGCTGTGGCTCT	c.(88-99)ggctgtggctctdel	p.GCGS30del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	30						keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		cggctgtggaggctgtggctctggctgtgggg	0.708																																																	0										96,3734		5,86,1824						0.1	0.0			33	221,7503		7,207,3648	no	coding	KRTAP5-5	NM_001001480.2		12,293,5472	A1A1,A1R,RR		2.8612,2.5065,2.7436				317,11237				SO:0001651	inframe_deletion	0			AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.88_99delGGCTGTGGCTCT	11.37:g.1651158_1651169delGGCTGTGGCTCT	ENSP00000382584:p.Gly30_Ser33del		A8MWN2	In_Frame_Del	DEL	NULL	p.SGCG33in_frame_del	ENST00000399676.2	37	c.88_99	CCDS41592.1	11																																																																																			KRTAP5-5	-	NULL	ENSG00000185940		0.708	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-5	HGNC	protein_coding	OTTHUMT00000127919.1		0.00	133	0	GGCTGTGGCTCT			1651169	+1			no_errors	ENST00000399676	ensembl	human	known	74_37	in_frame_del	6.10	200	13	DEL	0.374:0.384:0.317:0.302:0.301:0.281:0.273:0.283:0.273:0.229:0.033:0.002	0
KRTAP9-2	83899	genome.wustl.edu	37	17	39382934	39382934	+	Nonsense_Mutation	SNP	C	C	T			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr17:39382934C>T	ENST00000377721.3	+	1	35	c.28C>T	c.(28-30)Cag>Tag	p.Q10*	KRTAP9-2_ENST00000455970.2_Nonsense_Mutation_p.Q10*	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9-2	10	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament (GO:0045095)				large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCCTTGCTGTCAGCCTACCTG	0.617																																																	0													96.0	100.0	99.0					17																	39382934		2203	4300	6503	SO:0001587	stop_gained	0			AJ406946	CCDS32651.1	17q21.2	2013-06-25			ENSG00000239886	ENSG00000239886		"""Keratin associated proteins"""	16926	protein-coding gene	gene with protein product						11279113	Standard	NM_031961		Approved	KAP9.2	uc002hwf.3	Q9BYQ4	OTTHUMG00000133609	ENST00000377721.3:c.28C>T	17.37:g.39382934C>T	ENSP00000366950:p.Gln10*		Q17RK8|Q2TB15|Q6ISF6	Nonsense_Mutation	SNP	NULL	p.Q10*	ENST00000377721.3	37	c.28	CCDS32651.1	17	.	.	.	.	.	.	.	.	.	.	.	15.30	2.792650	0.50102	.	.	ENSG00000239886	ENST00000377721;ENST00000455970	.	.	.	3.07	3.07	0.35406	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	9.9192	0.41453	0.0:1.0:0.0:0.0	.	.	.	.	X	10	.	ENSP00000366950:Q10X	Q	+	1	0	KRTAP9-2	36636460	0.015000	0.18098	1.000000	0.80357	0.672000	0.39443	0.361000	0.20267	2.024000	0.59613	0.552000	0.68991	CAG	KRTAP9-2	-	NULL	ENSG00000239886		0.617	KRTAP9-2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KRTAP9-2	HGNC	protein_coding	OTTHUMT00000257717.1	-	0.00	271	0	C			39382934	+1	tier1	-	no_errors	ENST00000377721	ensembl	human	known	74_37	nonsense	6.52	946	66	SNP	0.983	T
KRTAP9-9	81870	genome.wustl.edu	37	17	39411665	39411665	+	Nonsense_Mutation	SNP	C	C	T			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr17:39411665C>T	ENST00000394008.1	+	1	30	c.28C>T	c.(28-30)Cag>Tag	p.Q10*		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9	10	14 X 5 AA repeats of C-C-[RQVGE]- [SPSTNQ]-[TASL].					keratin filament (GO:0045095)				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCCTTGCTGTCAGCCTACCTG	0.597																																																	0																																										SO:0001587	stop_gained	0			AJ406951	CCDS54127.1	17q21.2	2010-06-03			ENSG00000198083	ENSG00000198083		"""Keratin associated proteins"""	16773	protein-coding gene	gene with protein product			"""keratin associated protein 9-5"""	KRTAP9-5		11279113	Standard	NM_030975		Approved	KAP9.9, KAP9.5	uc021txh.1	Q9BYP9	OTTHUMG00000133602	ENST00000394008.1:c.28C>T	17.37:g.39411665C>T	ENSP00000377576:p.Gln10*		B5MDD6|Q9BYQ1	Nonsense_Mutation	SNP	NULL	p.Q10*	ENST00000394008.1	37	c.28	CCDS54127.1	17	.	.	.	.	.	.	.	.	.	.	.	13.50	2.256531	0.39896	.	.	ENSG00000198083	ENST00000394008	.	.	.	2.72	2.72	0.32119	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	9.1755	0.37109	0.0:1.0:0.0:0.0	.	.	.	.	X	10	.	ENSP00000377576:Q10X	Q	+	1	0	KRTAP9-9	36665191	0.000000	0.05858	0.996000	0.52242	0.483000	0.33249	-0.789000	0.04609	1.834000	0.53371	0.456000	0.33151	CAG	KRTAP9-9	-	NULL	ENSG00000198083		0.597	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP9-9	HGNC	protein_coding	OTTHUMT00000257710.1	-	0.00	91	0	C	NM_030975		39411665	+1	tier1	-	no_errors	ENST00000394008	ensembl	human	known	74_37	nonsense	16.37	235	46	SNP	0.858	T
KRTAP9-9	81870	genome.wustl.edu	37	17	39411794	39411794	+	Missense_Mutation	SNP	C	C	G			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr17:39411794C>G	ENST00000394008.1	+	1	159	c.157C>G	c.(157-159)Caa>Gaa	p.Q53E		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9	58	14 X 5 AA repeats of C-C-[RQVGE]- [SPSTNQ]-[TASL].					keratin filament (GO:0045095)				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			AGCTTGCTGTCAAAACACCTG	0.642																																																	0																																										SO:0001583	missense	0			AJ406951	CCDS54127.1	17q21.2	2010-06-03			ENSG00000198083	ENSG00000198083		"""Keratin associated proteins"""	16773	protein-coding gene	gene with protein product			"""keratin associated protein 9-5"""	KRTAP9-5		11279113	Standard	NM_030975		Approved	KAP9.9, KAP9.5	uc021txh.1	Q9BYP9	OTTHUMG00000133602	ENST00000394008.1:c.157C>G	17.37:g.39411794C>G	ENSP00000377576:p.Gln53Glu		B5MDD6|Q9BYQ1	Missense_Mutation	SNP	NULL	p.Q53E	ENST00000394008.1	37	c.157	CCDS54127.1	17	.	.	.	.	.	.	.	.	.	.	.	13.04	2.118857	0.37436	.	.	ENSG00000198083	ENST00000431129;ENST00000394008	T	0.01422	4.91	3.64	2.61	0.31194	.	.	.	.	.	T	0.02119	0.0066	L	0.60845	1.875	0.09310	N	1	B	0.13145	0.007	B	0.14578	0.011	T	0.39800	-0.9596	9	0.27082	T	0.32	.	10.1974	0.43062	0.0:0.5863:0.4136:0.0	.	58	Q9BYP9	KRA99_HUMAN	E	59;53	ENSP00000377576:Q53E	ENSP00000377576:Q53E	Q	+	1	0	KRTAP9-9	36665320	0.426000	0.25506	0.002000	0.10522	0.541000	0.35023	-0.222000	0.09190	0.786000	0.33708	0.456000	0.33151	CAA	KRTAP9-9	-	NULL	ENSG00000198083		0.642	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP9-9	HGNC	protein_coding	OTTHUMT00000257710.1	-	0.00	180	0	C	NM_030975		39411794	+1	tier1	-	no_errors	ENST00000394008	ensembl	human	known	74_37	missense	19.29	565	135	SNP	0.236	G
KRTAP9-9	81870	genome.wustl.edu	37	17	39411957	39411957	+	Missense_Mutation	SNP	C	C	T			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr17:39411957C>T	ENST00000394008.1	+	1	322	c.320C>T	c.(319-321)gCa>gTa	p.A107V		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9	92	14 X 5 AA repeats of C-C-[RQVGE]- [SPSTNQ]-[TASL].					keratin filament (GO:0045095)				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			AGCTCCTGTGCACCTGTGTAC	0.622																																																	0													112.0	116.0	114.0					17																	39411957		2203	4300	6503	SO:0001583	missense	0			AJ406951	CCDS54127.1	17q21.2	2010-06-03			ENSG00000198083	ENSG00000198083		"""Keratin associated proteins"""	16773	protein-coding gene	gene with protein product			"""keratin associated protein 9-5"""	KRTAP9-5		11279113	Standard	NM_030975		Approved	KAP9.9, KAP9.5	uc021txh.1	Q9BYP9	OTTHUMG00000133602	ENST00000394008.1:c.320C>T	17.37:g.39411957C>T	ENSP00000377576:p.Ala107Val		B5MDD6|Q9BYQ1	Missense_Mutation	SNP	NULL	p.A107V	ENST00000394008.1	37	c.320	CCDS54127.1	17	.	.	.	.	.	.	.	.	.	.	.	10.79	1.450459	0.26074	.	.	ENSG00000198083	ENST00000431129;ENST00000394008	T	0.01388	4.95	2.74	-3.94	0.04130	.	.	.	.	.	T	0.00936	0.0031	N	0.20766	0.605	0.09310	N	1	B	0.22604	0.072	B	0.20384	0.029	T	0.47142	-0.9140	9	0.23302	T	0.38	.	4.6681	0.12675	0.1253:0.1883:0.579:0.1073	.	92	Q9BYP9	KRA99_HUMAN	V	113;107	ENSP00000377576:A107V	ENSP00000377576:A107V	A	+	2	0	KRTAP9-9	36665483	0.000000	0.05858	0.000000	0.03702	0.309000	0.27889	-1.025000	0.03600	-0.640000	0.05495	0.456000	0.33151	GCA	KRTAP9-9	-	NULL	ENSG00000198083		0.622	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP9-9	HGNC	protein_coding	OTTHUMT00000257710.1	-	0.00	154	0	C	NM_030975		39411957	+1	tier1	-	no_errors	ENST00000394008	ensembl	human	known	74_37	missense	18.25	448	100	SNP	0.000	T
LINC00266-1	140849	genome.wustl.edu	37	20	62934912	62934913	+	RNA	INS	-	-	A	rs562737045	byFrequency	TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr20:62934912_62934913insA	ENST00000279067.3	+	0	928_1856					NR_040415.1				long intergenic non-protein coding RNA 266-1																		AAGTGTGTGTCAAAAAAAAAAA	0.332																																																	0																																												0			BC118988		20q13.33	2012-10-12	2011-08-11	2011-08-11	ENSG00000149656	ENSG00000149656		"""Long non-coding RNAs"""	16202	non-coding RNA	RNA, long non-coding			"""chromosome 20 open reading frame 69"", ""non-protein coding RNA 266"", ""non-protein coding RNA 266-1"""	C20orf69, NCRNA00266, NCRNA00266-1			Standard	NR_040415		Approved	bA476I15.3	uc002yio.1		OTTHUMG00000033036		20.37:g.62934923_62934923dupA				RNA	INS	-	NULL	ENST00000279067.3	37	NULL		20																																																																																			LINC00266-1	-	-	ENSG00000149656		0.332	LINC00266-1-001	KNOWN	basic	processed_transcript	LINC00266-1	HGNC	processed_transcript	OTTHUMT00000080304.2		0.00	13	0	0			62934913	+1			no_errors	ENST00000279067	ensembl	human	known	74_37	rna	23.33	23	7	INS	0.011:0.011	A
POMZP3	22932	genome.wustl.edu	37	7	76256129	76256132	+	5'UTR	DEL	CGGG	CGGG	-	rs555600099	byFrequency	TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	CGGG	CGGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr7:76256129_76256132delCGGG	ENST00000310842.4	-	0	426_429				UPK3B_ENST00000443097.2_Intron|AC004980.7_ENST00000418663.1_RNA|UPK3B_ENST00000419923.2_Intron|POMZP3_ENST00000275569.4_5'UTR	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN	POM121 and ZP3 fusion											kidney(3)|lung(2)	5		Myeloproliferative disorder(862;0.204)				Agcgcggcgccgggcgggcgggcg	0.745																																																	0																																										SO:0001623	5_prime_UTR_variant	0			U10099	CCDS5590.1, CCDS43606.1	7q11.2	2010-06-24	2010-06-24		ENSG00000146707	ENSG00000146707			9203	protein-coding gene	gene with protein product	"""POM-ZP3 fusion protein"", ""POM121/ZP3 fusion protein"""	600587	"""POM (POM121 rat homolog) and ZP3 fusion"", ""POM (POM121 homolog, rat) and ZP3 fusion"""			7789967	Standard	NM_012230		Approved	POM-ZP3, POM121	uc003uft.3	Q6PJE2	OTTHUMG00000023514	ENST00000310842.4:c.-259CCCG>-	7.37:g.76256137_76256140delCGGG			F6STJ3|Q12903|Q9BWB4	RNA	DEL	-	NULL	ENST00000310842.4	37	NULL	CCDS43606.1	7																																																																																			AC004980.7	-	-	ENSG00000205485		0.745	POMZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100133091	Clone_based_vega_gene	protein_coding	OTTHUMT00000341775.1		0.00	11	0	CGGG	NM_012230		76256132	+1	tier1		no_errors	ENST00000418663	ensembl	human	known	74_37	rna	14.29	18	3	DEL	0.010:0.017:0.020:0.030	-
LOC100507377	100507377	genome.wustl.edu	37	12	74686321	74686321	+	lincRNA	SNP	G	G	A			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr12:74686321G>A	ENST00000515416.2	-	0	81																											ATCGGCCTGCGCCGGAGAGGA	0.652																																																	0																																												0																															12.37:g.74686321G>A				RNA	SNP	-	NULL	ENST00000515416.2	37	NULL		12																																																																																			RP11-81H3.2	-	-	ENSG00000251138		0.652	RP11-81H3.2-001	KNOWN	basic	lincRNA	LOC100507377	Clone_based_vega_gene	lincRNA	OTTHUMT00000405900.1	-	0.00	19	0	G			74686321	-1	tier1	-	no_errors	ENST00000515416	ensembl	human	known	74_37	rna	33.33	12	6	SNP	0.016	A
MTMR9	66036	genome.wustl.edu	37	8	11177526	11177526	+	Intron	DEL	T	T	-			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr8:11177526delT	ENST00000221086.3	+	9	1959				AF131216.6_ENST00000498997.2_RNA|MTMR9_ENST00000526292.1_Intron	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9							cytoplasm (GO:0005737)	enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		CTAGCCACACTTTTTTTTTTT	0.363																																																	0																																										SO:0001627	intron_variant	0			AJ297823	CCDS5979.1	8p23-p22	2011-06-09	2002-09-05	2002-09-06	ENSG00000104643	ENSG00000104643		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	14596	protein-coding gene	gene with protein product		606260	"""myotubularin related protein 8"""	C8orf9, MTMR8		11472061, 11896452, 12890864	Standard	NM_015458		Approved	DKFZp434K171, LIP-STYX	uc003wtm.3	Q96QG7	OTTHUMG00000090647	ENST00000221086.3:c.1486+179T>-	8.37:g.11177526delT			B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	RNA	DEL	-	NULL	ENST00000221086.3	37	NULL	CCDS5979.1	8																																																																																			AF131216.6	-	-	ENSG00000246477		0.363	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC101929290	Clone_based_vega_gene	protein_coding	OTTHUMT00000207307.2		0.00	17	0	T	NM_015458		11177526	-1	tier1		no_errors	ENST00000498997	ensembl	human	known	74_37	rna	12.00	22	3	DEL	0.005	-
LPA	4018	genome.wustl.edu	37	6	161006106	161006106	+	Missense_Mutation	SNP	G	G	A	rs370130400		TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr6:161006106G>A	ENST00000316300.5	-	26	4305	c.4261C>T	c.(4261-4263)Cgg>Tgg	p.R1421W	LPA_ENST00000447678.1_Missense_Mutation_p.R1421W			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3929	Kringle 13. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.R1421R(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGGATCCTCCGATGCCAATGT	0.443																																																	1	Substitution - coding silent(1)	large_intestine(1)						G	TRP/ARG	1,4351	2.1+/-5.4	0,1,2175	216.0	214.0	215.0		4261	-5.1	0.0	6		215	0,8590		0,0,4295	no	missense	LPA	NM_005577.2	101	0,1,6470	AA,AG,GG		0.0,0.023,0.0077	probably-damaging	1421/2041	161006106	1,12941	2176	4295	6471	SO:0001583	missense	0			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4261C>T	6.37:g.161006106G>A	ENSP00000321334:p.Arg1421Trp		Q5VTD7|Q9UD88	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1	p.R1421W	ENST00000316300.5	37	c.4261	CCDS43523.1	6	.	.	.	.	.	.	.	.	.	.	g	5.546	0.285577	0.10513	2.3E-4	0.0	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.68025	-0.3;-0.3	2.56	-5.12	0.02893	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.56321	0.1977	M	0.62209	1.925	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.53746	-0.8395	9	0.72032	D	0.01	.	1.0197	0.01515	0.3788:0.2979:0.174:0.1493	.	3929	P08519	APOA_HUMAN	W	1421	ENSP00000321334:R1421W;ENSP00000395608:R1421W	ENSP00000321334:R1421W	R	-	1	2	LPA	160926096	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-5.486000	0.00118	-1.618000	0.01568	-0.436000	0.05848	CGG	LPA	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle	ENSG00000198670		0.443	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPA	HGNC	protein_coding	OTTHUMT00000042957.1	-	0.00	122	0	G	NM_005577		161006106	-1	tier1	-	no_errors	ENST00000316300	ensembl	human	known	74_37	missense	32.81	129	63	SNP	0.003	A
LRG1	116844	genome.wustl.edu	37	19	4538512	4538512	+	Missense_Mutation	SNP	C	C	T	rs142551012		TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr19:4538512C>T	ENST00000306390.6	-	2	944	c.484G>A	c.(484-486)Ggc>Agc	p.G162S	LRG1_ENST00000586883.1_5'UTR|CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	162					brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTTCAGGCCGTGTAGCCAC	0.652																																																	0													54.0	61.0	58.0					19																	4538512		2203	4300	6503	SO:0001583	missense	0				CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"""leucine rich alpha 2 glycoprotein"""	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.484G>A	19.37:g.4538512C>T	ENSP00000302621:p.Gly162Ser		Q8N4F5|Q96QZ4	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.G162S	ENST00000306390.6	37	c.484	CCDS12130.1	19	.	.	.	.	.	.	.	.	.	.	.	6.142	0.394429	0.11638	.	.	ENSG00000171236	ENST00000306390;ENST00000538589	T	0.61510	0.1	4.71	3.66	0.41972	.	0.000000	0.41712	D	0.000835	T	0.41604	0.1166	L	0.38531	1.155	0.09310	N	1	P	0.45902	0.868	B	0.37833	0.259	T	0.26326	-1.0106	10	0.32370	T	0.25	-35.3396	9.0394	0.36307	0.0:0.8977:0.0:0.1023	.	162	P02750	A2GL_HUMAN	S	162;145	ENSP00000302621:G162S	ENSP00000302621:G162S	G	-	1	0	LRG1	4489512	0.000000	0.05858	0.193000	0.23327	0.016000	0.09150	0.459000	0.21908	1.196000	0.43129	0.655000	0.94253	GGC	LRG1	-	NULL	ENSG00000171236		0.652	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRG1	HGNC	protein_coding	OTTHUMT00000458654.2	-	0.00	51	0	C	NM_052972		4538512	-1	tier1	-	no_errors	ENST00000306390	ensembl	human	known	74_37	missense	26.88	68	25	SNP	0.088	T
LRP1B	53353	genome.wustl.edu	37	2	141571273	141571273	+	Missense_Mutation	SNP	T	T	G			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr2:141571273T>G	ENST00000389484.3	-	32	6283	c.5312A>C	c.(5311-5313)gAg>gCg	p.E1771A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1771					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTCATTGACTCGATTACTTC	0.368										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													177.0	154.0	162.0					2																	141571273		2203	4300	6503	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5312A>C	2.37:g.141571273T>G	ENSP00000374135:p.Glu1771Ala		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.E1771A	ENST00000389484.3	37	c.5312	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	T	14.82	2.648155	0.47258	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90504	-2.68	5.83	5.83	0.93111	Six-bladed beta-propeller, TolB-like (1);	0.066255	0.64402	D	0.000015	D	0.83936	0.5362	L	0.27053	0.805	0.58432	D	0.999998	P	0.45348	0.856	B	0.41510	0.359	T	0.82762	-0.0297	10	0.07030	T	0.85	.	16.1982	0.82046	0.0:0.0:0.0:1.0	.	1771	Q9NZR2	LRP1B_HUMAN	A	1771;1709	ENSP00000374135:E1771A	ENSP00000374135:E1771A	E	-	2	0	LRP1B	141287743	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.242000	0.72376	2.226000	0.72624	0.533000	0.62120	GAG	LRP1B	-	smart_LDLR_classB_rpt	ENSG00000168702		0.368	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0.00	53	0	T	NM_018557		141571273	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	27.08	70	26	SNP	1.000	G
MACF1	23499	genome.wustl.edu	37	1	39951743	39951743	+	3'UTR	DEL	A	A	-	rs3839022|rs551344914	byFrequency	TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr1:39951743delA	ENST00000372915.3	+	0	22531				MACF1_ENST00000361689.2_3'UTR|MACF1_ENST00000539005.1_3'UTR|MACF1_ENST00000545844.1_3'UTR|MACF1_ENST00000564288.1_3'UTR|MACF1_ENST00000317713.7_3'UTR|MACF1_ENST00000567887.1_3'UTR|MACF1_ENST00000289893.4_3'UTR			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1						ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AATGTGTATTAAAAAAAAAAA	0.343																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.*277A>-	1.37:g.39951743delA			B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	RNA	DEL	-	NULL	ENST00000372915.3	37	NULL		1																																																																																			MACF1	-	-	ENSG00000127603		0.343	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1		0.00	24	0	A	NM_033044		39951743	+1	tier1		no_errors	ENST00000496360	ensembl	human	known	74_37	rna	9.09	30	3	DEL	0.084	-
MAEA	10296	genome.wustl.edu	37	4	1333394	1333394	+	3'UTR	SNP	C	C	T			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr4:1333394C>T	ENST00000303400.4	+	0	1691				MAEA_ENST00000264750.6_3'UTR|MAEA_ENST00000512289.1_3'UTR|MAEA_ENST00000514708.1_3'UTR	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher						cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cytoskeleton organization (GO:0007010)|enucleate erythrocyte development (GO:0048822)|erythrocyte maturation (GO:0043249)|negative regulation of myeloid cell apoptotic process (GO:0033033)|regulation of mitotic cell cycle (GO:0007346)	actomyosin contractile ring (GO:0005826)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)		WF10(DB05389)	AAGGTGGCAGCGGCACCGGAC	0.612																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF084928	CCDS33936.1, CCDS33937.1, CCDS75090.1	4p16.3	2012-07-20			ENSG00000090316	ENSG00000090316			13731	protein-coding gene	gene with protein product	"""GID complex subunit 9, FYV10 homolog (S. cerevisiae)"""	606801				9763581	Standard	XM_005272243		Approved	EMP, GID9	uc003gda.3	Q7L5Y9	OTTHUMG00000160169	ENST00000303400.4:c.*437C>T	4.37:g.1333394C>T			O95285|Q5JB54|Q6ZRD6|Q9BQ11|Q9H9V6|Q9H9Z4|Q9NW84	RNA	SNP	-	NULL	ENST00000303400.4	37	NULL	CCDS33936.1	4																																																																																			MAEA	-	-	ENSG00000090316		0.612	MAEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAEA	HGNC	protein_coding	OTTHUMT00000359511.1	-	0.00	18	0	C	NM_005882		1333394	+1	tier1	-	no_errors	ENST00000512289	ensembl	human	known	74_37	rna	26.92	19	7	SNP	0.000	T
MAP3K1	4214	genome.wustl.edu	37	5	56167793	56167793	+	Missense_Mutation	SNP	A	A	T			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr5:56167793A>T	ENST00000399503.3	+	7	1358	c.1358A>T	c.(1357-1359)gAa>gTa	p.E453V		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	453					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ATGCTTGATGAAGAAAGTCTT	0.403																																																	0													132.0	133.0	133.0					5																	56167793		1928	4143	6071	SO:0001583	missense	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.1358A>T	5.37:g.56167793A>T	ENSP00000382423:p.Glu453Val			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_dom	p.E453V	ENST00000399503.3	37	c.1358	CCDS43318.1	5	.	.	.	.	.	.	.	.	.	.	A	28.6	4.936665	0.92458	.	.	ENSG00000095015	ENST00000399503	T	0.71103	-0.54	5.62	5.62	0.85841	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	T	0.74084	0.3670	L	0.34521	1.04	0.80722	D	1	D	0.67145	0.996	P	0.59115	0.852	T	0.74699	-0.3577	10	0.44086	T	0.13	.	16.1146	0.81295	1.0:0.0:0.0:0.0	.	453	Q13233	M3K1_HUMAN	V	453	ENSP00000382423:E453V	ENSP00000382423:E453V	E	+	2	0	MAP3K1	56203550	1.000000	0.71417	0.994000	0.49952	0.979000	0.70002	8.052000	0.89448	2.260000	0.74910	0.528000	0.53228	GAA	MAP3K1	-	pfscan_Znf_RING	ENSG00000095015		0.403	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	-	0.00	24	0	A	XM_042066		56167793	+1	tier1	-	no_errors	ENST00000399503	ensembl	human	novel	74_37	missense	30.43	16	7	SNP	1.000	T
MASTL	84930	genome.wustl.edu	37	10	27459855	27459855	+	Missense_Mutation	SNP	G	G	A	rs563122532		TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr10:27459855G>A	ENST00000375940.4	+	8	2024	c.1967G>A	c.(1966-1968)cGa>cAa	p.R656Q	MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000375946.4_Missense_Mutation_p.R656Q|MASTL_ENST00000342386.6_Missense_Mutation_p.R656Q			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	656	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GTTGCTTTTCGAAGTTTTAAC	0.398																																																	0													100.0	100.0	100.0					10																	27459855		2203	4300	6503	SO:0001583	missense	0			BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.1967G>A	10.37:g.27459855G>A	ENSP00000365107:p.Arg656Gln		Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R656Q	ENST00000375940.4	37	c.1967	CCDS53502.1	10	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045618	0.75846	.	.	ENSG00000120539	ENST00000375946;ENST00000342386;ENST00000375940	T;T;T	0.22539	1.95;1.95;1.95	5.28	4.38	0.52667	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.058887	0.64402	N	0.000003	T	0.29817	0.0745	M	0.75264	2.295	0.48452	D	0.999658	D;D;D	0.61697	0.99;0.973;0.98	P;B;B	0.46718	0.525;0.264;0.372	T	0.09509	-1.0671	10	0.46703	T	0.11	-2.5017	11.1234	0.48304	0.1489:0.0:0.8511:0.0	.	656;656;656	Q96GX5-2;Q96GX5;Q96GX5-3	.;GWL_HUMAN;.	Q	656	ENSP00000365113:R656Q;ENSP00000343446:R656Q;ENSP00000365107:R656Q	ENSP00000343446:R656Q	R	+	2	0	MASTL	27499861	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.400000	0.59709	1.353000	0.45828	0.591000	0.81541	CGA	MASTL	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000120539		0.398	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MASTL	HGNC	protein_coding	OTTHUMT00000047320.1	-	0.00	22	0	G	NM_032844		27459855	+1	tier1	-	no_errors	ENST00000375940	ensembl	human	known	74_37	missense	29.41	23	10	SNP	1.000	A
MIR520F	574464	genome.wustl.edu	37	19	54188291	54188291	+	RNA	SNP	C	C	A			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr19:54188291C>A	ENST00000384824.1	+	0	87				MIR519C_ENST00000385053.1_RNA|MIR515-2_ENST00000384883.1_RNA	NR_030186.1				microRNA 520f																		CAAAAGAAAGCACTTTCTGTT	0.398																																																	0													95.0	85.0	88.0					19																	54188291		1568	3582	5150			0					19q13.42	2011-09-12		2008-12-18	ENSG00000207555	ENSG00000207555		"""ncRNAs / Micro RNAs"""	32096	non-coding RNA	RNA, micro				MIRN520F			Standard	NR_030186		Approved	hsa-mir-520f	uc021uzp.1				19.37:g.54188291C>A				RNA	SNP	-	NULL	ENST00000384824.1	37	NULL		19																																																																																			MIR515-2	-	-	ENSG00000207615		0.398	MIR520F-201	KNOWN	basic	miRNA	MIR515-2	HGNC	miRNA		-	0.00	52	0	C	NR_030186		54188291	+1	tier1	-	no_errors	ENST00000384883	ensembl	human	known	74_37	rna	42.31	45	33	SNP	0.003	A
MMP1	4312	genome.wustl.edu	37	11	102667492	102667492	+	Silent	SNP	T	T	A			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr11:102667492T>A	ENST00000315274.6	-	4	595	c.528A>T	c.(526-528)ggA>ggT	p.G176G	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	176	Metalloprotease.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	TTCCTCCAGGTCCATCAAAAG	0.433																																																	0													118.0	104.0	109.0					11																	102667492		2203	4299	6502	SO:0001819	synonymous_variant	0			X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"""Endogenous ligands"""	7155	protein-coding gene	gene with protein product		120353	"""matrix metalloproteinase 1 (interstitial collagenase)"""	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.528A>T	11.37:g.102667492T>A			P08156	Silent	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A	p.G176	ENST00000315274.6	37	c.528	CCDS8322.1	11																																																																																			MMP1	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A	ENSG00000196611		0.433	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP1	HGNC	protein_coding	OTTHUMT00000109632.1	-	0.00	49	0	T	NM_002421		102667492	-1	tier1	-	no_errors	ENST00000315274	ensembl	human	known	74_37	silent	27.14	51	19	SNP	0.338	A
MUC16	94025	genome.wustl.edu	37	19	9063581	9063581	+	Silent	SNP	C	C	T			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr19:9063581C>T	ENST00000397910.4	-	3	24068	c.23865G>A	c.(23863-23865)gaG>gaA	p.E7955E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7957	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGATACATCCTCAGGACCCC	0.463																																																	0													130.0	122.0	125.0					19																	9063581		1977	4159	6136	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.23865G>A	19.37:g.9063581C>T			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.E7955	ENST00000397910.4	37	c.23865	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0.00	79	0	C	NM_024690		9063581	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	29.91	75	32	SNP	0.000	T
MYCL	4610	genome.wustl.edu	37	1	40363231	40363231	+	Missense_Mutation	SNP	G	G	A			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr1:40363231G>A	ENST00000372816.2	-	2	1355	c.908C>T	c.(907-909)gCg>gTg	p.A303V	RP1-118J21.5_ENST00000418255.1_RNA|MYCL_ENST00000397332.2_Missense_Mutation_p.A333V			P12524	MYCL_HUMAN	v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog	303	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.					nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GTCCCTCAGCGCCAAGAATCG	0.572																																																	0													70.0	70.0	70.0					1																	40363231		2203	4300	6503	SO:0001583	missense	0				CCDS30682.1, CCDS44117.1, CCDS44117.2, CCDS53300.1	1p34.3	2013-07-09	2013-07-09	2013-07-09	ENSG00000116990	ENSG00000116990		"""Basic helix-loop-helix proteins"""	7555	protein-coding gene	gene with protein product	"""l-myc protein"", ""myc-related gene from lung cancer"", ""oncogene lmyc"""	164850	"""v-myc avian myelocytomatosis viral oncogene homolog 1, lung carcinoma derived"""	MYCL1		8978772	Standard	NM_001033082		Approved	LMYC, bHLHe38	uc001cer.2	P12524	OTTHUMG00000009243	ENST00000372816.2:c.908C>T	1.37:g.40363231G>A	ENSP00000361903:p.Ala303Val		A2A2C9|B4DJH2|Q14897|Q5QPL0|Q5QPL1|Q9NUE9	Missense_Mutation	SNP	pfam_Tscrpt_reg_Myc_N,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc	p.A303V	ENST00000372816.2	37	c.908	CCDS30682.1	1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101321	0.76983	.	.	ENSG00000116990	ENST00000397332;ENST00000372816	D;D	0.97959	-4.63;-4.63	5.75	5.75	0.90469	Helix-loop-helix DNA-binding (5);	0.110931	0.64402	D	0.000011	D	0.98422	0.9475	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99556	1.0967	10	0.72032	D	0.01	-29.8682	19.9598	0.97242	0.0:0.0:1.0:0.0	.	303	P12524	MYCL1_HUMAN	V	333;303	ENSP00000380494:A333V;ENSP00000361903:A303V	ENSP00000361903:A303V	A	-	2	0	MYCL1	40135818	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.876000	0.87215	2.716000	0.92895	0.655000	0.94253	GCG	MYCL	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc	ENSG00000116990		0.572	MYCL-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYCL	HGNC	protein_coding	OTTHUMT00000277004.1	-	0.00	40	0	G	NM_001033082		40363231	-1	tier1	-	no_errors	ENST00000372816	ensembl	human	known	74_37	missense	30.67	51	23	SNP	1.000	A
MYOC	4653	genome.wustl.edu	37	1	171605481	171605481	+	Missense_Mutation	SNP	C	C	T	rs74315334		TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr1:171605481C>T	ENST00000037502.6	-	3	1170	c.1099G>A	c.(1099-1101)Gga>Aga	p.G367R		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	367	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.		G -> R (in GLC1A). {ECO:0000269|PubMed:11774072, ECO:0000269|PubMed:12189160, ECO:0000269|PubMed:12442283, ECO:0000269|PubMed:12872267, ECO:0000269|PubMed:9345106, ECO:0000269|PubMed:9490287, ECO:0000269|PubMed:9521427}.		bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GGGAACTGTCCGTGGTAGCCA	0.532																																																	0			GRCh37	CM971022	MYOC	M	rs74315334						85.0	81.0	82.0					1																	171605481		2203	4300	6503	SO:0001583	missense	0			BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.1099G>A	1.37:g.171605481C>T	ENSP00000037502:p.Gly367Arg		B2RD84|O00620|Q7Z6Q9	Missense_Mutation	SNP	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	p.G367R	ENST00000037502.6	37	c.1099	CCDS1297.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.950684	0.73787	.	.	ENSG00000034971	ENST00000037502;ENST00000357746;ENST00000536591	D	0.88975	-2.45	5.46	5.46	0.80206	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.92698	0.7679	L	0.57536	1.79	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93036	0.6453	9	0.87932	D	0	.	18.2451	0.89982	0.0:1.0:0.0:0.0	.	309;367	B4DV44;Q99972	.;MYOC_HUMAN	R	367;320;300	ENSP00000037502:G367R	ENSP00000037502:G367R	G	-	1	0	MYOC	169872104	0.989000	0.36119	0.396000	0.26296	0.233000	0.25261	3.977000	0.56874	2.719000	0.93026	0.555000	0.69702	GGA	MYOC	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	ENSG00000034971		0.532	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOC	HGNC	protein_coding	OTTHUMT00000084178.2	-	0.00	75	0	C	NM_000261		171605481	-1	tier1	rs74315334	no_errors	ENST00000037502	ensembl	human	known	74_37	missense	30.00	70	30	SNP	1.000	T
NAV3	89795	genome.wustl.edu	37	12	78513342	78513344	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	TGT	TGT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr12:78513342_78513344delTGT	ENST00000397909.2	+	15	3539_3541	c.3366_3368delTGT	c.(3364-3369)gatgtt>gat	p.V1124del	NAV3_ENST00000266692.7_In_Frame_Del_p.V1124del|NAV3_ENST00000228327.6_In_Frame_Del_p.V1124del|NAV3_ENST00000536525.2_In_Frame_Del_p.V1124del			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1124	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATCAGGATGATGTTGTGCTGCAT	0.507										HNSCC(70;0.22)																																							0																																										SO:0001651	inframe_deletion	0			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.3366_3368delTGT	12.37:g.78513345_78513347delTGT	ENSP00000381007:p.Val1124del		Q8NFW7|Q9Y2E7	In_Frame_Del	DEL	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.V1124in_frame_del	ENST00000397909.2	37	c.3366_3368		12																																																																																			NAV3	-	NULL	ENSG00000067798		0.507	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1		0.00	56	0	TGT	NM_001024383		78513344	+1	tier1		no_errors	ENST00000397909	ensembl	human	known	74_37	in_frame_del	23.21	43	13	DEL	0.197:0.311:0.228	-
NEGR1	257194	genome.wustl.edu	37	1	72058523	72058523	+	Missense_Mutation	SNP	G	G	T			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr1:72058523G>T	ENST00000357731.5	-	6	1156	c.917C>A	c.(916-918)aCc>aAc	p.T306N	NEGR1_ENST00000306821.3_Missense_Mutation_p.T178N|NEGR1_ENST00000434200.1_Missense_Mutation_p.T260N	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	306	Ig-like C2-type 3.				feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		GCTCGCATTGGTTGTGCCTAG	0.463																																																	0													127.0	125.0	126.0					1																	72058523		2203	4300	6503	SO:0001583	missense	0			AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"""Immunoglobulin superfamily / I-set domain containing"""	17302	protein-coding gene	gene with protein product	"""a kindred of IgLON"", ""neurotractin"", ""IgLON family member 4"""	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.917C>A	1.37:g.72058523G>T	ENSP00000350364:p.Thr306Asn		Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T306N	ENST00000357731.5	37	c.917	CCDS661.1	1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113865	0.77210	.	.	ENSG00000172260	ENST00000357731;ENST00000306821;ENST00000434200	T;T;T	0.66815	-0.23;-0.23;-0.23	6.03	6.03	0.97812	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.114787	0.64402	D	0.000015	T	0.59932	0.2230	L	0.38692	1.165	0.41537	D	0.988494	P;B	0.45212	0.853;0.431	P;P	0.49597	0.616;0.493	T	0.64706	-0.6344	10	0.72032	D	0.01	-11.5096	15.973	0.80034	0.0:0.1339:0.8661:0.0	.	260;306	B4DI94;Q7Z3B1	.;NEGR1_HUMAN	N	306;178;260	ENSP00000350364:T306N;ENSP00000305938:T178N;ENSP00000413294:T260N	ENSP00000305938:T178N	T	-	2	0	NEGR1	71831111	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.245000	0.72398	2.861000	0.98227	0.655000	0.94253	ACC	NEGR1	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000172260		0.463	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEGR1	HGNC	protein_coding	OTTHUMT00000026722.4		0.00	76	0	G	NM_173808		72058523	-1			no_errors	ENST00000357731	ensembl	human	known	74_37	missense	5.45	52	3	SNP	1.000	T
NID1	4811	genome.wustl.edu	37	1	236176855	236176855	+	Missense_Mutation	SNP	C	C	T			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr1:236176855C>T	ENST00000264187.6	-	11	2342	c.2260G>A	c.(2260-2262)Gtg>Atg	p.V754M	NID1_ENST00000366595.3_Intron	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	754					basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	CGCTGGTCCACGACAGCTTCA	0.547																																																	0													92.0	83.0	86.0					1																	236176855		2203	4300	6503	SO:0001583	missense	0			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.2260G>A	1.37:g.236176855C>T	ENSP00000264187:p.Val754Met		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.V754M	ENST00000264187.6	37	c.2260	CCDS1608.1	1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.863743	0.51482	.	.	ENSG00000116962	ENST00000264187	D	0.83837	-1.77	5.93	0.195	0.15151	.	0.775582	0.12191	N	0.491196	T	0.68796	0.3040	N	0.14661	0.345	0.09310	N	1	B	0.22146	0.065	B	0.06405	0.002	T	0.57516	-0.7798	10	0.54805	T	0.06	.	12.2376	0.54524	0.0:0.6661:0.0:0.3339	.	754	P14543	NID1_HUMAN	M	754	ENSP00000264187:V754M	ENSP00000264187:V754M	V	-	1	0	NID1	234243478	0.000000	0.05858	0.003000	0.11579	0.858000	0.48976	0.179000	0.16840	0.114000	0.18032	-0.136000	0.14681	GTG	NID1	-	NULL	ENSG00000116962		0.547	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID1	HGNC	protein_coding	OTTHUMT00000096647.2	-	0.00	38	0	C	NM_002508		236176855	-1	tier1	-	no_errors	ENST00000264187	ensembl	human	known	74_37	missense	38.89	22	14	SNP	0.001	T
NTM	50863	genome.wustl.edu	37	11	132177606	132177606	+	Missense_Mutation	SNP	G	G	A			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr11:132177606G>A	ENST00000374786.1	+	4	1029	c.550G>A	c.(550-552)Gaa>Aaa	p.E184K	NTM_ENST00000374791.3_Missense_Mutation_p.E184K|NTM_ENST00000374784.1_Missense_Mutation_p.E184K|NTM_ENST00000425719.2_Missense_Mutation_p.E184K|NTM_ENST00000539799.1_Missense_Mutation_p.E184K|NTM_ENST00000427481.2_Missense_Mutation_p.E175K|NTM_ENST00000474900.1_3'UTR	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	184	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.E184K(2)|p.E184*(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GAGTGAAGACGAATACTTGGA	0.493																																																	4	Substitution - Nonsense(2)|Substitution - Missense(2)	large_intestine(2)|lung(2)											100.0	93.0	95.0					11																	132177606		2201	4297	6498	SO:0001583	missense	0			AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.550G>A	11.37:g.132177606G>A	ENSP00000363918:p.Glu184Lys		A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.E184K	ENST00000374786.1	37	c.550	CCDS8491.1	11	.	.	.	.	.	.	.	.	.	.	G	26.2	4.715177	0.89112	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T;T	0.35421	1.66;1.66;1.31;1.66;1.66;1.66;1.66	5.62	5.62	0.85841	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.090416	0.85682	D	0.000000	T	0.55689	0.1936	L	0.48935	1.535	0.49213	D	0.999764	D;D;D;D;D;D	0.89917	0.998;1.0;0.997;1.0;0.997;0.997	D;D;P;D;P;P	0.71184	0.954;0.972;0.897;0.972;0.897;0.897	T	0.52419	-0.8578	10	0.56958	D	0.05	-23.1021	20.0185	0.97487	0.0:0.0:1.0:0.0	.	184;175;184;184;184;184	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	K	184;184;175;175;184;184;184	ENSP00000363923:E184K;ENSP00000437668:E184K;ENSP00000448104:E175K;ENSP00000416320:E175K;ENSP00000363918:E184K;ENSP00000396722:E184K;ENSP00000363916:E184K	ENSP00000363916:E184K	E	+	1	0	NTM	131682816	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.180000	0.71981	2.809000	0.96659	0.467000	0.42956	GAA	NTM	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000182667		0.493	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTM	HGNC	protein_coding	OTTHUMT00000141937.1	-	0.00	66	0	G	NM_016522		132177606	+1	tier1	-	no_errors	ENST00000539799	ensembl	human	known	74_37	missense	28.44	78	31	SNP	1.000	A
NTNG1	22854	genome.wustl.edu	37	1	107691110	107691110	+	5'UTR	SNP	C	C	T			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr1:107691110C>T	ENST00000370068.1	+	0	741				NTNG1_ENST00000370067.1_5'UTR|NTNG1_ENST00000370070.2_5'UTR|NTNG1_ENST00000370061.3_5'UTR|NTNG1_ENST00000542803.1_5'UTR|NTNG1_ENST00000370066.1_5'Flank|NTNG1_ENST00000370071.2_5'UTR|NTNG1_ENST00000370072.3_5'UTR|NTNG1_ENST00000370065.1_5'Flank|NTNG1_ENST00000370074.4_5'UTR|NTNG1_ENST00000370073.2_5'UTR			Q9Y2I2	NTNG1_HUMAN	netrin G1						axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CCTACCTACCCGTACGCATAC	0.343																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.-106C>T	1.37:g.107691110C>T			Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	RNA	SNP	-	NULL	ENST00000370068.1	37	NULL	CCDS44180.1	1																																																																																			NTNG1	-	-	ENSG00000162631		0.343	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NTNG1	HGNC	protein_coding	OTTHUMT00000030340.1	-	0.00	13	0	C	NM_014917		107691110	+1	tier1	-	no_errors	ENST00000462149	ensembl	human	known	74_37	rna	36.84	12	7	SNP	0.048	T
PABPC1	26986	genome.wustl.edu	37	8	101730362	101730362	+	Missense_Mutation	SNP	C	C	T	rs199922140		TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr8:101730362C>T	ENST00000318607.5	-	2	1468	c.340G>A	c.(340-342)Gca>Aca	p.A114T	PABPC1_ENST00000519004.1_Missense_Mutation_p.A69T|PABPC1_ENST00000519596.1_5'Flank|PABPC1_ENST00000522387.1_Intron	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	114	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TCATACAGTGCTTTATTATCA	0.373																																																	0													129.0	123.0	125.0					8																	101730362		2203	4300	6503	SO:0001583	missense	0			Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.340G>A	8.37:g.101730362C>T	ENSP00000313007:p.Ala114Thr		Q15097|Q93004	Missense_Mutation	SNP	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.A114T	ENST00000318607.5	37	c.340	CCDS6289.1	8	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218635	0.79464	.	.	ENSG00000070756	ENST00000318607;ENST00000347137;ENST00000519004;ENST00000518196;ENST00000521865;ENST00000520142	D;D;T;T;T	0.84298	-1.83;-1.83;2.36;2.36;3.39	5.37	5.37	0.77165	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000005	T	0.76328	0.3972	N	0.11698	0.16	0.80722	D	1	B;B	0.33022	0.058;0.394	B;B	0.31812	0.057;0.136	T	0.77112	-0.2708	10	0.56958	D	0.05	.	19.4675	0.94948	0.0:1.0:0.0:0.0	.	114;114	B3KT93;P11940	.;PABP1_HUMAN	T	114;114;69;69;114;114	ENSP00000313007:A114T;ENSP00000429594:A69T;ENSP00000430159:A69T;ENSP00000429119:A114T;ENSP00000430012:A114T	ENSP00000313007:A114T	A	-	1	0	PABPC1	101799538	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.740000	0.84986	2.683000	0.91414	0.650000	0.86243	GCA	PABPC1	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234	ENSG00000070756		0.373	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC1	HGNC	protein_coding	OTTHUMT00000380217.1		0.00	49	0	C	NM_002568		101730362	-1			no_errors	ENST00000318607	ensembl	human	known	74_37	missense	6.58	71	5	SNP	1.000	T
PCSK1	5122	genome.wustl.edu	37	5	95746477	95746477	+	Splice_Site	SNP	C	C	T			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr5:95746477C>T	ENST00000311106.3	-	8	1333		c.e8+1		PCSK1_ENST00000508626.1_Splice_Site|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_Intron	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1						cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AAGCAACATACGATTCTCTGG	0.507																																																	0													160.0	140.0	147.0					5																	95746477		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.1095+1G>A	5.37:g.95746477C>T			B7Z8T7|E9PHA1|P78478|Q92532	Splice_Site	SNP	-	e8+1	ENST00000311106.3	37	c.1095+1	CCDS4081.1	5	.	.	.	.	.	.	.	.	.	.	C	24.4	4.524465	0.85600	.	.	ENSG00000175426	ENST00000311106;ENST00000508626	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2249	0.86966	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PCSK1	95772233	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	7.487000	0.81328	2.584000	0.87258	0.585000	0.79938	.	PCSK1	-	-	ENSG00000175426		0.507	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK1	HGNC	protein_coding	OTTHUMT00000242851.1	-	0.00	46	0	C	NM_000439	Intron	95746477	-1	tier1	-	no_errors	ENST00000311106	ensembl	human	known	74_37	splice_site	43.75	18	14	SNP	1.000	T
PCDHA13	56136	genome.wustl.edu	37	5	140263741	140263741	+	Missense_Mutation	SNP	G	G	A			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr5:140263741G>A	ENST00000289272.2	+	1	1888	c.1888G>A	c.(1888-1890)Gag>Aag	p.E630K	PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.E630K|PCDHA10_ENST00000307360.5_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	630	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACACTGGCGAGATCAGCAC	0.687																																					Melanoma(147;1739 1852 5500 27947 37288)												0													66.0	68.0	67.0					5																	140263741		2203	4298	6501	SO:0001583	missense	0			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1888G>A	5.37:g.140263741G>A	ENSP00000289272:p.Glu630Lys		O75277	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.E630K	ENST00000289272.2	37	c.1888	CCDS4240.1	5	.	.	.	.	.	.	.	.	.	.	G	20.5	4.009101	0.75046	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.53206	0.63;0.63	4.15	4.15	0.48705	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.75729	0.3889	M	0.92880	3.355	0.34118	D	0.663812	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.949;0.989;0.99	D	0.87070	0.2159	9	0.87932	D	0	.	16.6313	0.85033	0.0:0.0:1.0:0.0	.	630;630;630	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	K	630	ENSP00000386821:E630K;ENSP00000289272:E630K	ENSP00000289272:E630K	E	+	1	0	PCDHA13	140243925	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.404000	0.52623	2.136000	0.66102	0.655000	0.94253	GAG	PCDHA13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000239389		0.687	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA13	HGNC	protein_coding	OTTHUMT00000335000.1	-	0.00	93	0	G	NM_018904		140263741	+1	tier1	-	no_errors	ENST00000289272	ensembl	human	known	74_37	missense	44.76	58	47	SNP	1.000	A
PDP2	57546	genome.wustl.edu	37	16	66919132	66919132	+	Silent	SNP	C	C	T			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr16:66919132C>T	ENST00000311765.2	+	2	1279	c.945C>T	c.(943-945)gcC>gcT	p.A315A	RP11-61A14.2_ENST00000561475.1_lincRNA|PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	315					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|magnesium-dependent protein serine/threonine phosphatase activity (GO:0004724)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		GGAACCAGGCCGAGCTGTCCC	0.587																																																	0													68.0	63.0	65.0					16																	66919132		2200	4300	6500	SO:0001819	synonymous_variant	0			AB037769	CCDS10822.1	16q22.1	2012-04-17			ENSG00000172840	ENSG00000172840		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	30263	protein-coding gene	gene with protein product	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit 2"""	615499				9651365	Standard	NM_020786		Approved	KIAA1348, PPM2C2	uc002eqk.2	Q9P2J9	OTTHUMG00000137512	ENST00000311765.2:c.945C>T	16.37:g.66919132C>T			A8K924	Silent	SNP	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	p.A315	ENST00000311765.2	37	c.945	CCDS10822.1	16																																																																																			PDP2	-	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	ENSG00000172840		0.587	PDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDP2	HGNC	protein_coding	OTTHUMT00000268831.2	-	0.00	32	0	C	NM_020786		66919132	+1	tier1	-	no_errors	ENST00000311765	ensembl	human	known	74_37	silent	31.58	39	18	SNP	0.001	T
PEG3	5178	genome.wustl.edu	37	19	57326178	57326178	+	Missense_Mutation	SNP	T	T	C			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr19:57326178T>C	ENST00000326441.9	-	10	3995	c.3632A>G	c.(3631-3633)aAt>aGt	p.N1211S	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.N1211S|PEG3_ENST00000593695.1_Missense_Mutation_p.N1085S|PEG3_ENST00000598410.1_Missense_Mutation_p.N1087S|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1211					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGCAGCACGATTCCTCCGTGG	0.488																																																	0													115.0	111.0	112.0					19																	57326178		2203	4300	6503	SO:0001583	missense	0			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3632A>G	19.37:g.57326178T>C	ENSP00000326581:p.Asn1211Ser		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.N1211S	ENST00000326441.9	37	c.3632	CCDS12948.1	19	.	.	.	.	.	.	.	.	.	.	T	4.954	0.177131	0.09443	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02737	4.18;4.18	4.06	-2.13	0.07144	.	0.930262	0.08988	N	0.864912	T	0.01870	0.0059	N	0.24115	0.695	.	.	.	B;B;P	0.39665	0.003;0.304;0.682	B;B;B	0.35312	0.002;0.072;0.2	T	0.42632	-0.9440	9	0.56958	D	0.05	-3.7348	3.2133	0.06690	0.1263:0.4649:0.1917:0.2171	.	1087;1211;1146	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	S	1211	ENSP00000326581:N1211S;ENSP00000403051:N1211S	ENSP00000326581:N1211S	N	-	2	0	ZIM2	62017990	0.000000	0.05858	0.000000	0.03702	0.805000	0.45488	-0.014000	0.12656	-0.408000	0.07565	0.533000	0.62120	AAT	PEG3	-	NULL	ENSG00000198300		0.488	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	-	0.00	42	0	T			57326178	-1	tier1	-	no_errors	ENST00000326441	ensembl	human	known	74_37	missense	31.71	28	13	SNP	0.000	C
PIAS2	9063	genome.wustl.edu	37	18	44424026	44424026	+	Silent	SNP	C	C	T			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr18:44424026C>T	ENST00000585916.1	-	8	1031	c.1032G>A	c.(1030-1032)ttG>ttA	p.L344L	PIAS2_ENST00000324794.7_Silent_p.L344L|PIAS2_ENST00000545673.1_Silent_p.L54L	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	344					androgen receptor signaling pathway (GO:0030521)|negative regulation of androgen receptor signaling pathway (GO:0060766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|regulation of osteoblast differentiation (GO:0045667)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						CAGGGCACATCAAGGATACCC	0.289																																																	0													101.0	110.0	107.0					18																	44424026		2203	4300	6503	SO:0001819	synonymous_variant	0			AF077953	CCDS32824.1, CCDS32825.1	18q12.1-q12.3	2011-10-11				ENSG00000078043		"""Zinc fingers, MIZ-type"""	17311	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 4"""	603567				9724754, 9256341	Standard	NM_004671		Approved	PIASX-BETA, miz, PIASX-ALPHA, ZMIZ4	uc002lck.3	O75928		ENST00000585916.1:c.1032G>A	18.37:g.44424026C>T			O75927|Q96BT5|Q96KE3	Silent	SNP	pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom	p.L344	ENST00000585916.1	37	c.1032	CCDS32824.1	18																																																																																			PIAS2	-	pfam_Znf_MIZ,pfscan_Znf_MIZ	ENSG00000078043		0.289	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS2	HGNC	protein_coding	OTTHUMT00000445656.2	-	0.00	71	0	C	NM_004671		44424026	-1	tier1	-	no_errors	ENST00000585916	ensembl	human	known	74_37	silent	5.88	64	4	SNP	1.000	T
PKD1	5310	genome.wustl.edu	37	16	2160250	2160250	+	Missense_Mutation	SNP	C	C	T			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr16:2160250C>T	ENST00000262304.4	-	15	5126	c.4918G>A	c.(4918-4920)Ggt>Agt	p.G1640S	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.G1640S	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1640	PKD 12. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TAGCGGCCACCGCCCACCACC	0.617																																																	0													20.0	20.0	20.0					16																	2160250		2171	4272	6443	SO:0001583	missense	0			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.4918G>A	16.37:g.2160250C>T	ENSP00000262304:p.Gly1640Ser		Q15140|Q15141	Missense_Mutation	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.G1640S	ENST00000262304.4	37	c.4918	CCDS32369.1	16	.	.	.	.	.	.	.	.	.	.	c	3.215	-0.160795	0.06502	.	.	ENSG00000008710	ENST00000262304;ENST00000423118	T;T	0.57907	0.37;0.37	5.3	4.35	0.52113	Polycystin cation channel (1);PKD domain (1);	0.226336	0.45606	D	0.000350	T	0.35189	0.0923	L	0.44542	1.39	0.09310	N	1	P;P	0.46020	0.871;0.683	B;B	0.32805	0.144;0.153	T	0.17531	-1.0366	10	0.22706	T	0.39	.	8.5645	0.33531	0.1357:0.7246:0.0:0.1397	.	1640;1640	P98161-3;P98161	.;PKD1_HUMAN	S	1640	ENSP00000262304:G1640S;ENSP00000399501:G1640S	ENSP00000262304:G1640S	G	-	1	0	PKD1	2100251	0.001000	0.12720	0.018000	0.16275	0.014000	0.08584	0.784000	0.26816	0.642000	0.30620	-1.611000	0.00801	GGT	PKD1	-	pfam_PKD_dom,tigrfam_Polycystin_cat	ENSG00000008710		0.617	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	-	0.00	128	0	C			2160250	-1	tier1	-	no_errors	ENST00000262304	ensembl	human	known	74_37	missense	27.27	96	36	SNP	0.119	T
PIEZO1	9780	genome.wustl.edu	37	16	88803061	88803061	+	Missense_Mutation	SNP	G	G	C			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr16:88803061G>C	ENST00000301015.9	-	11	1528	c.1282C>G	c.(1282-1284)Ctc>Gtc	p.L428V	RP5-1142A6.2_ENST00000567968.1_RNA|RP5-1142A6.2_ENST00000440406.2_RNA	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1	428					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						ATGGCAATGAGCGCGCACACA	0.706																																																	0													38.0	40.0	39.0					16																	88803061		692	1585	2277	SO:0001583	missense	0			D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776	ENST00000301015.9:c.1282C>G	16.37:g.88803061G>C	ENSP00000301015:p.Leu428Val		A6NHT9|A7E2B7|Q0KKZ9	Missense_Mutation	SNP	pfam_Piezo	p.L428V	ENST00000301015.9	37	c.1282	CCDS54058.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.68|11.68	1.711574|1.711574	0.30322|0.30322	.|.	.|.	ENSG00000103335|ENSG00000103335	ENST00000451779|ENST00000301015	.|T	.|0.77358	.|-1.09	5.56|5.56	4.61|4.61	0.57282|0.57282	.|.	.|.	.|.	.|.	.|.	T|T	0.70064|0.70064	0.3181|0.3181	L|L	0.52011|0.52011	1.625|1.625	0.80722|0.80722	D|D	1|1	.|P	.|0.48503	.|0.911	.|B	.|0.39185	.|0.293	T|T	0.72950|0.72950	-0.4136|-0.4136	6|9	0.41790|0.66056	T|D	0.15|0.02	.|.	10.5756|10.5756	0.45225|0.45225	0.074:0.1337:0.7923:0.0|0.074:0.1337:0.7923:0.0	.|.	.|428	.|Q92508	.|PIEZ1_HUMAN	G|V	373|428	.|ENSP00000301015:L428V	ENSP00000408244:A373G|ENSP00000301015:L428V	A|L	-|-	2|1	0|0	FAM38A|FAM38A	87330562|87330562	0.997000|0.997000	0.39634|0.39634	0.694000|0.694000	0.30210|0.30210	0.171000|0.171000	0.22731|0.22731	4.481000|4.481000	0.60250|0.60250	1.369000|1.369000	0.46134|0.46134	0.585000|0.585000	0.79938|0.79938	GCT|CTC	PIEZO1	-	NULL	ENSG00000103335		0.706	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	PIEZO1	HGNC	protein_coding	OTTHUMT00000345699.4	-	0.00	10	0	G	NM_014745		88803061	-1	tier1	-	no_errors	ENST00000301015	ensembl	human	novel	74_37	missense	44.44	10	8	SNP	0.995	C
PLCL1	5334	genome.wustl.edu	37	2	198950163	198950163	+	Missense_Mutation	SNP	G	G	C			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr2:198950163G>C	ENST00000428675.1	+	2	2320	c.1922G>C	c.(1921-1923)aGa>aCa	p.R641T	PLCL1_ENST00000437704.2_Missense_Mutation_p.R543T	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	641	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TTCTTATCAAGAATCTATCCA	0.388																																																	0													37.0	40.0	39.0					2																	198950163		2203	4300	6503	SO:0001583	missense	0			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1922G>C	2.37:g.198950163G>C	ENSP00000402861:p.Arg641Thr		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.R641T	ENST00000428675.1	37	c.1922	CCDS2326.2	2	.	.	.	.	.	.	.	.	.	.	G	17.84	3.486964	0.63962	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	D;D	0.83163	-1.69;-1.69	5.36	5.36	0.76844	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.076869	0.56097	D	0.000035	D	0.95149	0.8428	H	0.98542	4.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.96693	0.9512	9	.	.	.	.	19.2914	0.94102	0.0:0.0:1.0:0.0	.	641;567	Q15111;B4DYZ4	PLCL1_HUMAN;.	T	641;543	ENSP00000402861:R641T;ENSP00000414138:R543T	.	R	+	2	0	PLCL1	198658408	1.000000	0.71417	0.996000	0.52242	0.970000	0.65996	9.643000	0.98464	2.793000	0.96121	0.561000	0.74099	AGA	PLCL1	-	pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	ENSG00000115896		0.388	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL1	HGNC	protein_coding	OTTHUMT00000340210.1		0.00	17	0	G	NM_006226		198950163	+1			no_errors	ENST00000428675	ensembl	human	known	74_37	missense	15.79	32	6	SNP	0.998	C
PLIN4	729359	genome.wustl.edu	37	19	4510468	4510468	+	Silent	SNP	C	C	T	rs375540587		TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr19:4510468C>T	ENST00000301286.3	-	3	3461	c.3462G>A	c.(3460-3462)gcG>gcA	p.A1154A		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	1154						cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CTTGCTCCTCCGCATTCATGG	0.572																																																	0								C		1,4061		0,1,2030	40.0	45.0	43.0		3462	-7.8	0.0	19		43	0,8352		0,0,4176	no	coding-synonymous	PLIN4	NM_001080400.1		0,1,6206	TT,TC,CC		0.0,0.0246,0.0081		1154/1358	4510468	1,12413	2031	4176	6207	SO:0001819	synonymous_variant	0			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.3462G>A	19.37:g.4510468C>T			A6NEI2	Silent	SNP	pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom	p.A1154	ENST00000301286.3	37	c.3462	CCDS45927.1	19																																																																																			PLIN4	-	pfam_Perilipin	ENSG00000167676		0.572	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PLIN4	HGNC	protein_coding	OTTHUMT00000395095.1	-	0.00	79	0	C	XM_170901		4510468	-1	tier1	-	no_errors	ENST00000301286	ensembl	human	novel	74_37	silent	22.99	67	20	SNP	0.000	T
PMS1	5378	genome.wustl.edu	37	2	190660583	190660583	+	Missense_Mutation	SNP	A	A	G			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr2:190660583A>G	ENST00000441310.2	+	3	454	c.221A>G	c.(220-222)tAc>tGc	p.Y74C	PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000409985.1_Missense_Mutation_p.Y74C|PMS1_ENST00000374826.4_Missense_Mutation_p.Y74C|PMS1_ENST00000432292.3_Intron|PMS1_ENST00000447232.2_Missense_Mutation_p.Y74C|PMS1_ENST00000409823.3_Missense_Mutation_p.Y74C|PMS1_ENST00000418224.3_5'UTR	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	74					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			ATGAAGTACTACACCTCAAAA	0.393			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)																															yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)		E	0													105.0	103.0	104.0					2																	190660583		2203	4300	6503	SO:0001583	missense	0				CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"""postmeiotic segregation increased (S. cerevisiae) 1"""	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.221A>G	2.37:g.190660583A>G	ENSP00000406490:p.Tyr74Cys		D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_C,pfam_HMG_box_dom,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom,tigrfam_DNA_mismatch_repair_N	p.Y74C	ENST00000441310.2	37	c.221	CCDS2302.1	2	.	.	.	.	.	.	.	.	.	.	A	21.4	4.147545	0.77888	.	.	ENSG00000064933	ENST00000441310;ENST00000409985;ENST00000409823;ENST00000374826;ENST00000424766;ENST00000447232	T;T;T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9;-0.9;-0.9	5.78	5.78	0.91487	DNA mismatch repair protein, N-terminal (1);ATPase-like, ATP-binding domain (4);	0.104042	0.64402	N	0.000002	D	0.85062	0.5611	M	0.67517	2.055	0.80722	D	1	D;D;D;D;P;D;D	0.89917	0.995;1.0;1.0;1.0;0.943;0.967;0.986	D;D;D;D;P;P;P	0.85130	0.968;0.995;0.995;0.997;0.854;0.897;0.897	D	0.86189	0.1611	10	0.62326	D	0.03	-9.6807	16.1121	0.81271	1.0:0.0:0.0:0.0	.	74;74;74;74;74;74;74	B4DMF4;E9PC40;Q5FBZ4;Q5FBZ9;Q5FBZ3;Q5FBZ8;P54277	.;.;.;.;.;.;PMS1_HUMAN	C	74	ENSP00000406490:Y74C;ENSP00000386623:Y74C;ENSP00000387125:Y74C;ENSP00000363959:Y74C;ENSP00000410082:Y74C;ENSP00000401064:Y74C	ENSP00000343888:Y74C	Y	+	2	0	PMS1	190368828	1.000000	0.71417	0.985000	0.45067	0.989000	0.77384	7.171000	0.77595	2.213000	0.71641	0.519000	0.50382	TAC	PMS1	-	pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,tigrfam_DNA_mismatch_repair_N	ENSG00000064933		0.393	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMS1	HGNC	protein_coding	OTTHUMT00000255918.2	-	0.00	31	0	A			190660583	+1	tier1	-	no_errors	ENST00000441310	ensembl	human	known	74_37	missense	23.17	63	19	SNP	0.998	G
PRG4	10216	genome.wustl.edu	37	1	186276143	186276145	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr1:186276143_186276145delCTC	ENST00000445192.2	+	7	1337_1339	c.1292_1294delCTC	c.(1291-1296)actccc>acc	p.P432del	PRG4_ENST00000367483.4_In_Frame_Del_p.P391del|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_In_Frame_Del_p.P389del|PRG4_ENST00000367485.4_In_Frame_Del_p.P339del	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	432	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GCACCCACCACTCCCAAGGAGCC	0.655																																																	0																																										SO:0001651	inframe_deletion	0			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1292_1294delCTC	1.37:g.186276143_186276145delCTC	ENSP00000399679:p.Pro432del		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	In_Frame_Del	DEL	pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom	p.P432in_frame_del	ENST00000445192.2	37	c.1292_1294	CCDS1369.1	1																																																																																			PRG4	-	NULL	ENSG00000116690		0.655	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRG4	HGNC	protein_coding	OTTHUMT00000086346.1		0.00	66	0	CTC	NM_005807		186276145	+1			no_errors	ENST00000445192	ensembl	human	known	74_37	in_frame_del	6.25	105	7	DEL	0.002:0.000:0.000	0
PTPRD	5789	genome.wustl.edu	37	9	8636802	8636802	+	Missense_Mutation	SNP	A	A	T			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr9:8636802A>T	ENST00000381196.4	-	10	650	c.107T>A	c.(106-108)gTc>gAc	p.V36D	PTPRD_ENST00000463477.1_Missense_Mutation_p.V36D|PTPRD_ENST00000486161.1_Missense_Mutation_p.V36D|PTPRD_ENST00000397617.3_Missense_Mutation_p.V36D|PTPRD_ENST00000397611.3_Missense_Mutation_p.V36D|PTPRD_ENST00000540109.1_Missense_Mutation_p.V36D|PTPRD_ENST00000356435.5_Missense_Mutation_p.V36D|PTPRD_ENST00000397606.3_Missense_Mutation_p.V36D|PTPRD_ENST00000537002.1_Missense_Mutation_p.V36D|PTPRD_ENST00000360074.4_Missense_Mutation_p.V36D|PTPRD_ENST00000358503.5_Missense_Mutation_p.V36D|PTPRD_ENST00000355233.5_Missense_Mutation_p.V36D	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	36	Ig-like C2-type 1.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCCGCCAGAGACCCCTGTCTG	0.408										TSP Lung(15;0.13)																																							0													83.0	86.0	85.0					9																	8636802		2203	4300	6503	SO:0001583	missense	0			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.107T>A	9.37:g.8636802A>T	ENSP00000370593:p.Val36Asp		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.V36D	ENST00000381196.4	37	c.107	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	A	26.2	4.717793	0.89205	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606;ENST00000463477;ENST00000481079	T;T;T;T;T;T;T;T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	5.84	5.84	0.93424	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.70456	0.3226	L	0.35341	1.055	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.998;0.998;0.994;0.998;0.989;0.997;0.998;1.0;0.998	T	0.68891	-0.5289	9	.	.	.	.	16.226	0.82293	1.0:0.0:0.0:0.0	.	36;36;36;36;36;36;36;36;36;36	C9J8S8;Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;.;PTPRD_HUMAN	D	36	ENSP00000370593:V36D;ENSP00000348812:V36D;ENSP00000353187:V36D;ENSP00000351293:V36D;ENSP00000347373:V36D;ENSP00000380741:V36D;ENSP00000380735:V36D;ENSP00000440515:V36D;ENSP00000438164:V36D;ENSP00000417093:V36D;ENSP00000380731:V36D;ENSP00000417661:V36D;ENSP00000417890:V36D	.	V	-	2	0	PTPRD	8626802	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.288000	0.96055	2.230000	0.72887	0.528000	0.53228	GTC	PTPRD	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000153707		0.408	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	-	0.00	23	0	A			8636802	-1	tier1	-	no_errors	ENST00000356435	ensembl	human	known	74_37	missense	53.33	14	16	SNP	1.000	T
GOLGA8CP	729786	genome.wustl.edu	37	15	20776335	20776335	+	RNA	SNP	T	T	G			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr15:20776335T>G	ENST00000408427.1	+	0	0				RN7SL759P_ENST00000485130.2_RNA																							ggtgacctcctgggagcgggg	0.537																																																	0																																												0																															15.37:g.20776335T>G				RNA	SNP	-	NULL	ENST00000408427.1	37	NULL		15																																																																																			RN7SL759P	-	-	ENSG00000242443		0.537	AC131280.1-201	NOVEL	basic	miRNA	RN7SL759P	HGNC	miRNA		-	0.00	21	0	T			20776335	+1	tier1	-	no_errors	ENST00000485130	ensembl	human	known	74_37	rna	31.11	31	14	SNP	0.144	G
RASGRF1	5923	genome.wustl.edu	37	15	79288108	79288108	+	Missense_Mutation	SNP	T	T	A			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr15:79288108T>A	ENST00000419573.3	-	21	3323	c.3049A>T	c.(3049-3051)Atc>Ttc	p.I1017F	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000394745.3_Missense_Mutation_p.I233F|RASGRF1_ENST00000558480.2_Missense_Mutation_p.I1001F	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	1017					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TCCAGCGTGATCTGGTTGTCA	0.632																																																	0													164.0	125.0	138.0					15																	79288108		2196	4293	6489	SO:0001583	missense	0			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.3049A>T	15.37:g.79288108T>A	ENSP00000405963:p.Ile1017Phe		F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.I1017F	ENST00000419573.3	37	c.3049	CCDS10309.1	15	.	.	.	.	.	.	.	.	.	.	T	13.73	2.325186	0.41197	.	.	ENSG00000058335	ENST00000419573;ENST00000394741;ENST00000394745	T;T	0.29917	1.55;1.55	4.01	2.86	0.33363	Ras guanine nucleotide exchange factor, domain (1);	0.425981	0.22344	N	0.061286	T	0.21307	0.0513	N	0.22421	0.69	0.31729	N	0.637252	P;B;B;B	0.41710	0.76;0.286;0.286;0.409	B;B;B;B	0.44044	0.439;0.125;0.142;0.243	T	0.14008	-1.0488	10	0.39692	T	0.17	.	5.8863	0.18884	0.0:0.2248:0.0:0.7752	.	413;1001;1019;1001	B7Z6Z6;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	F	1017;1001;233	ENSP00000405963:I1017F;ENSP00000378228:I233F	ENSP00000378224:I1001F	I	-	1	0	RASGRF1	77075163	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	1.657000	0.37366	0.502000	0.28037	0.397000	0.26171	ATC	RASGRF1	-	superfamily_Ras_GEF_dom	ENSG00000058335		0.632	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	RASGRF1	HGNC	protein_coding	OTTHUMT00000291371.3	-	0.00	32	0	T	NM_002891		79288108	-1	tier1	-	no_errors	ENST00000419573	ensembl	human	known	74_37	missense	44.44	40	32	SNP	1.000	A
RNMT	8731	genome.wustl.edu	37	18	13740208	13740208	+	Missense_Mutation	SNP	A	A	T			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr18:13740208A>T	ENST00000383314.2	+	6	962	c.722A>T	c.(721-723)gAg>gTg	p.E241V	RNMT_ENST00000543302.2_Missense_Mutation_p.E241V|RNMT_ENST00000592764.1_Missense_Mutation_p.E241V|RNMT_ENST00000535051.1_De_novo_Start_OutOfFrame|RNMT_ENST00000589866.1_Missense_Mutation_p.E241V|RNMT_ENST00000262173.3_Missense_Mutation_p.E241V			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	241	mRNA cap 0 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00895}.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA (guanine-N7)-methylation (GO:0036265)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|receptor complex (GO:0043235)	mRNA (guanine-N7-)-methyltransferase activity (GO:0004482)|RNA binding (GO:0003723)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						CAGCGGTATGAGGACATGAAA	0.373																																					GBM(29;474 594 19092 36647 41529)												0													115.0	105.0	108.0					18																	13740208		2203	4300	6503	SO:0001583	missense	0			AF067791	CCDS11867.1	18p11.21	2008-05-14			ENSG00000101654	ENSG00000101654	2.1.1.56		10075	protein-coding gene	gene with protein product		603514				9828141, 9705270	Standard	NM_003799		Approved	RG7MT1	uc002ksl.1	O43148	OTTHUMG00000131718	ENST00000383314.2:c.722A>T	18.37:g.13740208A>T	ENSP00000372804:p.Glu241Val		B0YJ90|D3DUJ5|O94996|Q9UIJ9	Missense_Mutation	SNP	pfam_mRNA_G-N7_MeTrfase_dom,pfam_Methyltransf_11,pirsf_mRNA_G-N7_MeTrfase	p.E241V	ENST00000383314.2	37	c.722	CCDS11867.1	18	.	.	.	.	.	.	.	.	.	.	A	16.64	3.180601	0.57800	.	.	ENSG00000101654	ENST00000383314;ENST00000543302;ENST00000544744;ENST00000262173	.	.	.	5.76	3.42	0.39159	.	0.609015	0.19022	N	0.124793	T	0.56673	0.2001	M	0.66297	2.02	0.80722	D	1	P;P	0.36909	0.529;0.573	B;B	0.40982	0.311;0.345	T	0.54879	-0.8227	9	0.40728	T	0.16	-24.7506	9.5006	0.39015	0.7431:0.1513:0.0:0.1057	.	241;241	O43148-2;O43148	.;MCES_HUMAN	V	241;241;63;241	.	ENSP00000262173:E241V	E	+	2	0	RNMT	13730208	0.928000	0.31464	1.000000	0.80357	0.997000	0.91878	2.602000	0.46257	0.968000	0.38212	0.533000	0.62120	GAG	RNMT	-	pfam_mRNA_G-N7_MeTrfase_dom,pfam_Methyltransf_11,pirsf_mRNA_G-N7_MeTrfase	ENSG00000101654		0.373	RNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNMT	HGNC	protein_coding	OTTHUMT00000254636.1	-	0.00	24	0	A	NM_003799		13740208	+1	tier1	-	no_errors	ENST00000262173	ensembl	human	known	74_37	missense	26.47	25	9	SNP	0.881	T
ROBO1	6091	genome.wustl.edu	37	3	78688924	78688924	+	Missense_Mutation	SNP	C	C	T	rs552122795		TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr3:78688924C>T	ENST00000464233.1	-	22	3120	c.3007G>A	c.(3007-3009)Gac>Aac	p.D1003N	ROBO1_ENST00000436010.2_Missense_Mutation_p.D964N|ROBO1_ENST00000495273.1_Missense_Mutation_p.D958N|ROBO1_ENST00000467549.1_Missense_Mutation_p.D958N	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1003					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AGGTTGCTGTCGCTGTTTCCA	0.522													C|||	1	0.000199681	0.0	0.0	5008	,	,		14292	0.001		0.0	False		,,,				2504	0.0																0													98.0	100.0	99.0					3																	78688924		2018	4187	6205	SO:0001583	missense	0			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.3007G>A	3.37:g.78688924C>T	ENSP00000420321:p.Asp1003Asn		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.D1003N	ENST00000464233.1	37	c.3007	CCDS54611.1	3	.	.	.	.	.	.	.	.	.	.	C	19.01	3.744427	0.69418	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.64085	-0.05;-0.08;0.1;0.16	5.78	4.91	0.64330	.	0.088242	0.85682	D	0.000000	T	0.75903	0.3913	L	0.61387	1.9	0.53005	D	0.999966	P;P;D;P;P	0.89917	0.935;0.791;1.0;0.937;0.879	B;B;D;B;B	0.87578	0.361;0.079;0.998;0.169;0.248	T	0.76077	-0.3091	9	.	.	.	.	14.7037	0.69174	0.0:0.9303:0.0:0.0697	.	967;1003;958;958;964	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	N	964;958;1003;958;958;1007	ENSP00000406043:D964N;ENSP00000420321:D1003N;ENSP00000420637:D958N;ENSP00000417992:D958N	.	D	-	1	0	ROBO1	78771614	1.000000	0.71417	0.684000	0.30055	0.362000	0.29581	5.780000	0.68956	1.437000	0.47472	0.591000	0.81541	GAC	ROBO1	-	NULL	ENSG00000169855		0.522	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO1	HGNC	protein_coding	OTTHUMT00000352610.1	-	0.00	86	0	C	NM_002941		78688924	-1	tier1	-	no_errors	ENST00000464233	ensembl	human	known	74_37	missense	56.70	42	55	SNP	1.000	T
RSPH10B2	728194	genome.wustl.edu	37	7	6798735	6798735	+	Missense_Mutation	SNP	G	G	A	rs199536223		TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr7:6798735G>A	ENST00000403107.1	+	3	662	c.275G>A	c.(274-276)cGt>cAt	p.R92H	RSPH10B2_ENST00000297186.3_Missense_Mutation_p.R92H|RSPH10B2_ENST00000433859.2_Missense_Mutation_p.R92H|RSPH10B2_ENST00000404077.1_Missense_Mutation_p.R92H|RSPH10B2_ENST00000359718.3_5'UTR			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B2 (Chlamydomonas)	92										breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						GAAAAGGTTCGTGGGCTGTAT	0.438																																																	0								G	HIS/ARG	8,3516		0,8,1754	5.0	5.0	5.0		275	1.3	0.9	7		5	125,7477		0,125,3676	no	missense	RSPH10B2	NM_001099697.1	29	0,133,5430	AA,AG,GG		1.6443,0.227,1.1954	benign	92/871	6798735	133,10993	1762	3801	5563	SO:0001583	missense	0				CCDS43552.1	7p22.1	2008-07-04			ENSG00000169402	ENSG00000169402			34385	protein-coding gene	gene with protein product							Standard	NM_001099697		Approved		uc003sqw.1	B2RC85	OTTHUMG00000151856	ENST00000403107.1:c.275G>A	7.37:g.6798735G>A	ENSP00000384766:p.Arg92His		A6NMW7|B2RXI4|B2RXJ0|Q86ST9|Q8NE68	Missense_Mutation	SNP	pfam_MORN,smart_MORN	p.R92H	ENST00000403107.1	37	c.275	CCDS43552.1	7	.	.	.	.	.	.	.	.	.	.	G	4.629	0.116979	0.08881	0.00227	0.016443	ENSG00000169402	ENST00000403107;ENST00000404077;ENST00000297186;ENST00000433859	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	3.21	1.33	0.21861	.	0.588391	0.17861	N	0.159518	T	0.12902	0.0313	N	0.21583	0.68	0.24340	N	0.994965	B	0.23316	0.083	B	0.22386	0.039	T	0.10823	-1.0613	10	0.45353	T	0.12	.	5.6641	0.17684	0.3696:0.0:0.6304:0.0	.	92	B2RC85	R10B2_HUMAN	H	92	ENSP00000384766:R92H;ENSP00000386102:R92H;ENSP00000297186:R92H;ENSP00000416710:R92H	ENSP00000297186:R92H	R	+	2	0	RSPH10B2	6765260	0.097000	0.21791	0.863000	0.33907	0.273000	0.26683	0.336000	0.19823	0.198000	0.20407	0.398000	0.26397	CGT	RSPH10B2	-	pfam_MORN	ENSG00000169402		0.438	RSPH10B2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH10B2	HGNC	protein_coding	OTTHUMT00000324184.4	-	0.00	15	0	G	NM_001099697		6798735	+1	tier1	rs199536223	no_errors	ENST00000297186	ensembl	human	known	74_37	missense	34.62	17	9	SNP	0.378	A
SLC24A1	9187	genome.wustl.edu	37	15	65930493	65930493	+	Nonsense_Mutation	SNP	G	G	T			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr15:65930493G>T	ENST00000261892.6	+	3	2205	c.1918G>T	c.(1918-1920)Gag>Tag	p.E640*	SLC24A1_ENST00000544319.2_Intron|SLC24A1_ENST00000339868.6_Intron|SLC24A1_ENST00000537259.1_Intron|SLC24A1_ENST00000399033.4_Nonsense_Mutation_p.E640*|SLC24A1_ENST00000546330.1_Intron	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	640					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGCGGTGGATGAGCTACAGGA	0.577																																																	0													53.0	59.0	57.0					15																	65930493		2096	4226	6322	SO:0001587	stop_gained	0			AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.1918G>T	15.37:g.65930493G>T	ENSP00000261892:p.Glu640*		O43485|O75184|Q17RM9	Nonsense_Mutation	SNP	pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K/Na/Ca-exchanger	p.E640*	ENST00000261892.6	37	c.1918	CCDS45284.1	15	.	.	.	.	.	.	.	.	.	.	G	37	6.155105	0.97329	.	.	ENSG00000074621	ENST00000261892;ENST00000399033	.	.	.	4.43	4.43	0.53597	.	1.504780	0.03609	N	0.234512	.	.	.	.	.	.	0.46823	D	0.999219	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	12.5554	0.56250	0.0:0.0:1.0:0.0	.	.	.	.	X	640	.	ENSP00000261892:E640X	E	+	1	0	SLC24A1	63717547	0.466000	0.25823	0.045000	0.18777	0.892000	0.51952	2.648000	0.46647	1.995000	0.58328	0.511000	0.50034	GAG	SLC24A1	-	tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K/Na/Ca-exchanger	ENSG00000074621		0.577	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A1	HGNC	protein_coding	OTTHUMT00000397304.1	-	0.00	50	0	G	NM_004727		65930493	+1	tier1	-	no_errors	ENST00000261892	ensembl	human	known	74_37	nonsense	6.41	73	5	SNP	0.050	T
SLC9C2	284525	genome.wustl.edu	37	1	173486717	173486717	+	Missense_Mutation	SNP	G	G	A			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr1:173486717G>A	ENST00000367714.3	-	23	3288	c.2866C>T	c.(2866-2868)Cgt>Tgt	p.R956C	SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	956					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										TCAATTTCACGCTTAAGCAGA	0.358																																																	0													123.0	126.0	125.0					1																	173486717		2203	4300	6503	SO:0001583	missense	0			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.2866C>T	1.37:g.173486717G>A	ENSP00000356687:p.Arg956Cys		Q86UF3	Missense_Mutation	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.R956C	ENST00000367714.3	37	c.2866	CCDS1308.1	1	.	.	.	.	.	.	.	.	.	.	G	3.793	-0.043306	0.07452	.	.	ENSG00000162753	ENST00000367714	D	0.92858	-3.12	5.01	-0.745	0.11098	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.604283	0.14279	N	0.329622	T	0.76800	0.4038	L	0.48362	1.52	0.09310	N	1	B	0.16802	0.019	B	0.17433	0.018	T	0.68534	-0.5383	10	0.62326	D	0.03	-0.7432	4.2154	0.10531	0.1676:0.1251:0.5799:0.1274	.	956	Q5TAH2	S9A11_HUMAN	C	956	ENSP00000356687:R956C	ENSP00000356687:R956C	R	-	1	0	SLC9A11	171753340	0.586000	0.26782	0.036000	0.18154	0.084000	0.17831	0.506000	0.22658	-0.020000	0.14032	-0.940000	0.02684	CGT	SLC9C2	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	ENSG00000162753		0.358	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C2	HGNC	protein_coding	OTTHUMT00000084205.1	-	0.00	35	0	G	NM_178527		173486717	-1	tier1	-	no_errors	ENST00000367714	ensembl	human	known	74_37	missense	39.47	23	15	SNP	0.012	A
SLCO6A1	133482	genome.wustl.edu	37	5	101755694	101755694	+	Silent	SNP	G	G	T			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr5:101755694G>T	ENST00000506729.1	-	8	1479	c.1308C>A	c.(1306-1308)ggC>ggA	p.G436G	SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000379807.3_Silent_p.G436G|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000389019.3_Silent_p.G374G			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	436						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CCAGAAGCTGGCCAAGTGCAC	0.353																																																	0													43.0	47.0	46.0					5																	101755694		2203	4300	6503	SO:0001819	synonymous_variant	0			AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1308C>A	5.37:g.101755694G>T			A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Silent	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.G436	ENST00000506729.1	37	c.1308	CCDS34206.1	5																																																																																			SLCO6A1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	ENSG00000205359		0.353	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO6A1	HGNC	protein_coding	OTTHUMT00000370335.1		0.00	23	0	G	NM_173488		101755694	-1			no_errors	ENST00000379807	ensembl	human	known	74_37	silent	6.90	27	2	SNP	0.800	T
SNAI2	6591	genome.wustl.edu	37	8	49833768	49833768	+	Nonsense_Mutation	SNP	G	G	C			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr8:49833768G>C	ENST00000396822.1	-	2	414	c.57C>G	c.(55-57)taC>taG	p.Y19*	SNAI2_ENST00000020945.1_Nonsense_Mutation_p.Y19*			O43623	SNAI2_HUMAN	snail family zinc finger 2	19	SNAG domain. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|cartilage morphogenesis (GO:0060536)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to ionizing radiation (GO:0071479)|desmosome disassembly (GO:0035921)|embryo development (GO:0009790)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|epithelium development (GO:0060429)|negative regulation of anoikis (GO:2000811)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter (GO:1900387)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|negative regulation of vitamin D receptor signaling pathway (GO:0070563)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone acetylation (GO:0035066)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of chemokine production (GO:0032642)|regulation of osteoblast differentiation (GO:0045667)|regulation of tight junction assembly (GO:2000810)|sensory perception of sound (GO:0007605)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				CCAGTTCGCTGTAGTTTGGCT	0.483																																																	0													157.0	155.0	155.0					8																	49833768		2203	4300	6503	SO:0001587	stop_gained	0			U97060	CCDS6146.1	8q11.21	2013-05-23	2013-05-23	2002-02-28	ENSG00000019549	ENSG00000019549		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	11094	protein-coding gene	gene with protein product		602150	"""slug homolog, zinc finger protein (chicken)"", ""snail homolog 2 (Drosophila)"""	SLUG		9337409, 9721220	Standard	NM_003068		Approved	SLUGH1, SNAIL2	uc003xqp.3	O43623	OTTHUMG00000149912	ENST00000396822.1:c.57C>G	8.37:g.49833768G>C	ENSP00000380034:p.Tyr19*		B2R6P6|Q53FC1	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Y19*	ENST00000396822.1	37	c.57	CCDS6146.1	8	.	.	.	.	.	.	.	.	.	.	G	37	6.146819	0.97324	.	.	ENSG00000019549	ENST00000020945;ENST00000396822	.	.	.	5.22	4.14	0.48551	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-22.6084	14.6564	0.68835	0.0831:0.0:0.9169:0.0	.	.	.	.	X	19	.	.	Y	-	3	2	SNAI2	49996321	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.088000	0.41663	2.425000	0.82216	0.313000	0.20887	TAC	SNAI2	-	NULL	ENSG00000019549		0.483	SNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAI2	HGNC	protein_coding	OTTHUMT00000313873.2	-	0.00	54	0	G	NM_003068		49833768	-1	tier1	-	no_errors	ENST00000020945	ensembl	human	known	74_37	nonsense	48.84	22	21	SNP	1.000	C
SNTG1	54212	genome.wustl.edu	37	8	51617159	51617159	+	Splice_Site	SNP	G	G	A			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr8:51617159G>A	ENST00000522124.1	+	16	1699		c.e16-1		SNTG1_ENST00000276467.5_Splice_Site|SNTG1_ENST00000517473.1_Splice_Site|SNTG1_ENST00000518864.1_Splice_Site	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1						cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GTTTTCACCAGGACAGTGACC	0.547																																																	0													129.0	108.0	115.0					8																	51617159		2203	4300	6503	SO:0001630	splice_region_variant	0			AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.1039-1G>A	8.37:g.51617159G>A			Q2M3Q0|Q9NY98	Splice_Site	SNP	-	e14-1	ENST00000522124.1	37	c.1039-1	CCDS6147.1	8	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558368	0.86231	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0775	0.89432	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SNTG1	51779712	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.141000	0.94612	2.577000	0.86979	0.643000	0.83706	.	SNTG1	-	-	ENSG00000147481		0.547	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG1	HGNC	protein_coding	OTTHUMT00000377964.1	-	0.00	27	0	G		Intron	51617159	+1	tier1	-	no_errors	ENST00000518864	ensembl	human	known	74_37	splice_site	32.65	33	16	SNP	1.000	A
SNX5	27131	genome.wustl.edu	37	20	17934727	17934727	+	Missense_Mutation	SNP	C	C	A			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr20:17934727C>A	ENST00000377768.3	-	5	614	c.302G>T	c.(301-303)gGt>gTt	p.G101V	SNX5_ENST00000377759.4_Missense_Mutation_p.G101V|SNX5_ENST00000483485.1_5'UTR	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	101	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.|Phosphatidylinositol bisphosphate binding. {ECO:0000250}.				intracellular protein transport (GO:0006886)|pinocytosis (GO:0006907)	cytoplasmic vesicle (GO:0031410)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|extrinsic component of endosome membrane (GO:0031313)|macropinocytic cup (GO:0070685)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						CTCTCGAGGACCATCAAAGTC	0.488																																																	0													138.0	132.0	134.0					20																	17934727		2203	4300	6503	SO:0001583	missense	0			AF121855	CCDS13130.1	20p11	2008-05-22			ENSG00000089006	ENSG00000089006		"""Sorting nexins"""	14969	protein-coding gene	gene with protein product		605937				10600472, 17148574	Standard	NM_152227		Approved		uc002wqc.3	Q9Y5X3	OTTHUMG00000031953	ENST00000377768.3:c.302G>T	20.37:g.17934727C>A	ENSP00000366998:p.Gly101Val		B7ZKN3|D3DW26|Q52LC4|Q7KZN0|Q9BWP0	Missense_Mutation	SNP	pfam_Phox,pfam_Vps5_C,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox	p.G101V	ENST00000377768.3	37	c.302	CCDS13130.1	20	.	.	.	.	.	.	.	.	.	.	C	16.61	3.171650	0.57584	.	.	ENSG00000089006	ENST00000377768;ENST00000377759;ENST00000431277;ENST00000419004	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	5.6	5.6	0.85130	Phox homologous domain (5);	0.128808	0.64402	D	0.000001	T	0.37919	0.1021	L	0.28458	0.855	0.80722	D	1	B;B	0.28026	0.014;0.198	B;B	0.29862	0.041;0.108	T	0.14227	-1.0480	10	0.48119	T	0.1	-5.3103	19.9784	0.97317	0.0:1.0:0.0:0.0	.	122;101	B7Z476;Q9Y5X3	.;SNX5_HUMAN	V	101;101;64;66	ENSP00000366998:G101V;ENSP00000366988:G101V;ENSP00000404448:G64V;ENSP00000406731:G66V	ENSP00000366988:G101V	G	-	2	0	SNX5	17882727	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	4.774000	0.62339	2.800000	0.96347	0.455000	0.32223	GGT	SNX5	-	pfam_Phox,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox	ENSG00000089006		0.488	SNX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX5	HGNC	protein_coding	OTTHUMT00000078137.4	-	0.00	52	0	C			17934727	-1	tier1	-	no_errors	ENST00000377759	ensembl	human	known	74_37	missense	31.17	53	24	SNP	1.000	A
SPIB	6689	genome.wustl.edu	37	19	50922242	50922245	+	Splice_Site	DEL	AGTA	AGTA	-			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	AGTA	AGTA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr19:50922242_50922245delAGTA	ENST00000595883.1	+	1	48	c.23delAGTA	c.(22-24)cag>cg	p.Q8fs	CTD-2545M3.6_ENST00000599632.1_Intron|SPIB_ENST00000596074.1_Splice_Site_p.Q8fs|SPIB_ENST00000439922.2_5'UTR|SPIB_ENST00000597855.1_Splice_Site_p.Q8fs|SPIB_ENST00000270632.7_Splice_Site_p.Q8fs	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	8	TAD1 (Acidic).				cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GAGGCTGCACAGTAAGTGAGGGCC	0.686																																																	0																																										SO:0001630	splice_region_variant	0				CCDS33080.1, CCDS58674.1, CCDS59412.1	19q13.3-q13.4	2008-07-22				ENSG00000269404			11242	protein-coding gene	gene with protein product		606802				1406622	Standard	NM_003121		Approved	SPI-B	uc002psd.3	Q01892		ENST00000595883.1:c.23+1AGTA>-	19.37:g.50922242_50922245delAGTA			A8K9C9|B4DUG6|Q15359	Frame_Shift_Del	DEL	pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.Q8fs	ENST00000595883.1	37	c.23	CCDS33080.1	19																																																																																			SPIB	-	NULL	ENSG00000269404		0.686	SPIB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPIB	HGNC	protein_coding	OTTHUMT00000464744.1		0.00	81	0	AGTA	NM_003121	Frame_Shift_Del	50922245	+1	tier1		no_errors	ENST00000595883	ensembl	human	known	74_37	frame_shift_del	16.00	63	12	DEL	1.000	-
TAF1D	79101	genome.wustl.edu	37	11	93471452	93471453	+	Frame_Shift_Ins	INS	-	-	T			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr11:93471452_93471453insT	ENST00000448108.2	-	3	931_932	c.281_282insA	c.(280-282)aagfs	p.K94fs	TAF1D_ENST00000546088.1_5'Flank	NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa	94					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						TCCTCTTTTTCTTTTTTTTATA	0.347																																																	0																																										SO:0001589	frameshift_variant	0				CCDS8293.1	11q21	2012-05-30	2008-09-30	2008-09-30	ENSG00000166012	ENSG00000166012			28759	protein-coding gene	gene with protein product		612823	"""Josephin domain containing 3"""	JOSD3		15520167, 17318177	Standard	NM_024116		Approved	MGC5306, TAF(I)41	uc001pec.3	Q9H5J8	OTTHUMG00000167451	ENST00000448108.2:c.282dupA	11.37:g.93471460_93471460dupT	ENSP00000410409:p.Lys94fs		Q6I9Y6	Frame_Shift_Ins	INS	NULL	p.K95fs	ENST00000448108.2	37	c.282_281	CCDS8293.1	11																																																																																			TAF1D	-	NULL	ENSG00000166012		0.347	TAF1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1D	HGNC	protein_coding	OTTHUMT00000394662.2		0.00	41	0	-	NM_024116		93471453	-1	tier1		no_errors	ENST00000323981	ensembl	human	known	74_37	frame_shift_ins	18.60	35	8	INS	0.000:0.000	T
TIMP3	7078	genome.wustl.edu	37	22	33255310	33255310	+	Nonsense_Mutation	SNP	G	G	A			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr22:33255310G>A	ENST00000266085.6	+	5	883	c.582G>A	c.(580-582)tgG>tgA	p.W194*	SYN3_ENST00000358763.2_Intron|SYN3_ENST00000332840.5_Intron	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN	TIMP metallopeptidase inhibitor 3	194					cellular response to organic substance (GO:0071310)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						ACTGCAGCTGGTACCGAGGAT	0.607																																																	0													65.0	55.0	59.0					22																	33255310		2203	4300	6503	SO:0001587	stop_gained	0				CCDS13911.1	22q12.3	2013-01-08	2008-07-31		ENSG00000100234	ENSG00000100234			11822	protein-coding gene	gene with protein product		188826	"""tissue inhibitor of metalloproteinase 3 (Sorsby fundus dystrophy, pseudoinflammatory)"""	SFD		8188246, 12652295	Standard	NM_000362		Approved		uc003anb.3	P35625	OTTHUMG00000030784	ENST00000266085.6:c.582G>A	22.37:g.33255310G>A	ENSP00000266085:p.Trp194*		B2RBY9|Q5THV4|Q9UC74|Q9UGS2	Nonsense_Mutation	SNP	pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain	p.W194*	ENST00000266085.6	37	c.582	CCDS13911.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.506947|6.506947	0.97620|0.97620	.|.	.|.	ENSG00000100234|ENSG00000100234	ENST00000382049|ENST00000266085;ENST00000538671	.|.	.|.	.|.	3.91|3.91	3.91|3.91	0.45181|0.45181	.|.	.|0.069893	.|0.64402	.|D	.|0.000006	T|.	0.35682|.	0.0940|.	.|.	.|.	.|.	0.34627|0.34627	D|D	0.719256|0.719256	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.35748|.	-0.9776|.	5|.	0.87932|0.02654	D|T	0|1	-15.6895|-15.6895	16.1096|16.1096	0.81250|0.81250	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	I|X	197|194;128	.|.	ENSP00000371481:V197I|ENSP00000266085:W194X	V|W	+|+	1|3	0|0	TIMP3|TIMP3	31585310|31585310	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.657000|9.657000	0.98554|0.98554	2.019000|2.019000	0.59389|0.59389	0.561000|0.561000	0.74099|0.74099	GTA|TGG	TIMP3	-	pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP	ENSG00000100234		0.607	TIMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMP3	HGNC	protein_coding	OTTHUMT00000075672.2	-	0.00	30	0	G	NM_000362		33255310	+1	tier1	-	no_errors	ENST00000266085	ensembl	human	known	74_37	nonsense	34.00	33	17	SNP	1.000	A
TMPRSS9	360200	genome.wustl.edu	37	19	2425009	2425009	+	Missense_Mutation	SNP	C	C	G			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr19:2425009C>G	ENST00000332578.3	+	15	2625	c.2625C>G	c.(2623-2625)gaC>gaG	p.D875E		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	875	Peptidase S1 3. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTACGGGGACCCCAAGCAGT	0.751																																																	0													5.0	5.0	5.0					19																	2425009		2072	4081	6153	SO:0001583	missense	0			AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.2625C>G	19.37:g.2425009C>G	ENSP00000330264:p.Asp875Glu		Q6ZND6|Q7Z411	Missense_Mutation	SNP	pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1	p.D875E	ENST00000332578.3	37	c.2625	CCDS12088.1	19	.	.	.	.	.	.	.	.	.	.	C	22.2	4.264340	0.80358	.	.	ENSG00000178297	ENST00000332578	D	0.93019	-3.15	4.14	4.14	0.48551	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.52532	D	0.000073	D	0.94185	0.8134	L	0.33245	0.995	0.41129	D	0.985871	D	0.76494	0.999	D	0.81914	0.995	D	0.95066	0.8200	10	0.66056	D	0.02	.	14.989	0.71371	0.0:1.0:0.0:0.0	.	875	Q7Z410	TMPS9_HUMAN	E	875	ENSP00000330264:D875E	ENSP00000330264:D875E	D	+	3	2	TMPRSS9	2376009	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	1.382000	0.34374	1.867000	0.54127	0.561000	0.74099	GAC	TMPRSS9	-	pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000178297		0.751	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS9	HGNC	protein_coding	OTTHUMT00000451330.3		0.00	15	0	C	NM_182973		2425009	+1			no_errors	ENST00000332578	ensembl	human	known	74_37	missense	23.53	13	4	SNP	1.000	G
TOP2A	7153	genome.wustl.edu	37	17	38562642	38562642	+	Silent	SNP	G	G	A			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr17:38562642G>A	ENST00000423485.1	-	16	2105	c.1947C>T	c.(1945-1947)atC>atT	p.I649I		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	649					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	CTACCAGGCTGATAGCAGCAT	0.353																																																	0													90.0	81.0	84.0					17																	38562642		1836	4085	5921	SO:0001819	synonymous_variant	0				CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.1947C>T	17.37:g.38562642G>A			B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Silent	SNP	pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3	p.I649	ENST00000423485.1	37	c.1947	CCDS45672.1	17																																																																																			TOP2A	-	superfamily_Topo_IIA_like_dom,smart_Topo_IIA	ENSG00000131747		0.353	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP2A	HGNC	protein_coding	OTTHUMT00000338035.1	-	0.00	27	0	G			38562642	-1	tier1	-	no_errors	ENST00000423485	ensembl	human	known	74_37	silent	45.65	50	42	SNP	1.000	A
TOP2A	7153	genome.wustl.edu	37	17	38562681	38562681	+	Silent	SNP	G	G	A			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr17:38562681G>A	ENST00000423485.1	-	16	2066	c.1908C>T	c.(1906-1908)atC>atT	p.I636I		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	636					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	ATTTGAACTGGATACGATGTC	0.348																																																	0													116.0	107.0	110.0					17																	38562681		1847	4089	5936	SO:0001819	synonymous_variant	0				CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.1908C>T	17.37:g.38562681G>A			B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Silent	SNP	pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3	p.I636	ENST00000423485.1	37	c.1908	CCDS45672.1	17																																																																																			TOP2A	-	superfamily_Topo_IIA_like_dom,smart_Topo_IIA	ENSG00000131747		0.348	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP2A	HGNC	protein_coding	OTTHUMT00000338035.1	-	0.00	37	0	G			38562681	-1	tier1	-	no_errors	ENST00000423485	ensembl	human	known	74_37	silent	49.56	57	56	SNP	0.147	A
TOP2A	7153	genome.wustl.edu	37	17	38562866	38562866	+	Missense_Mutation	SNP	G	G	A			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr17:38562866G>A	ENST00000423485.1	-	15	1971	c.1813C>T	c.(1813-1815)Cat>Tat	p.H605Y		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	605					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	CATTTTTTATGATTTGGAGTA	0.323																																																	0													127.0	119.0	122.0					17																	38562866		1795	4071	5866	SO:0001583	missense	0				CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.1813C>T	17.37:g.38562866G>A	ENSP00000411532:p.His605Tyr		B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3	p.H605Y	ENST00000423485.1	37	c.1813	CCDS45672.1	17	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.637736	0.00799	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.22539	1.95	5.51	3.52	0.40303	DNA topoisomerase, type IIA, central (1);DNA topoisomerase, type IIA, subunit B/N-terminal (1);	0.192062	0.53938	N	0.000042	T	0.09774	0.0240	N	0.11927	0.2	0.28767	N	0.900563	B	0.02656	0.0	B	0.08055	0.003	T	0.35450	-0.9788	10	0.02654	T	1	.	11.5457	0.50693	0.2562:0.0:0.7438:0.0	.	605	P11388	TOP2A_HUMAN	Y	605;685;628;641	ENSP00000411532:H605Y	ENSP00000269577:H685Y	H	-	1	0	TOP2A	35816392	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	2.486000	0.45259	0.402000	0.25451	-1.847000	0.00572	CAT	TOP2A	-	superfamily_Topo_IIA_like_dom,smart_Topo_IIA	ENSG00000131747		0.323	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP2A	HGNC	protein_coding	OTTHUMT00000338035.1	-	0.00	42	0	G			38562866	-1	tier1	-	no_errors	ENST00000423485	ensembl	human	known	74_37	missense	50.45	55	56	SNP	1.000	A
TOP2A	7153	genome.wustl.edu	37	17	38562902	38562902	+	Missense_Mutation	SNP	G	G	A			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr17:38562902G>A	ENST00000423485.1	-	15	1935	c.1777C>T	c.(1777-1779)Cct>Tct	p.P593S		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	593					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TCAAATTCAGGAAGGCTGTAA	0.353																																																	0													134.0	128.0	130.0					17																	38562902		1806	4071	5877	SO:0001583	missense	0				CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.1777C>T	17.37:g.38562902G>A	ENSP00000411532:p.Pro593Ser		B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3	p.P593S	ENST00000423485.1	37	c.1777	CCDS45672.1	17	.	.	.	.	.	.	.	.	.	.	G	14.14	2.447071	0.43429	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.23754	1.89	5.51	5.51	0.81932	DNA topoisomerase, type IIA, subunit B/N-terminal, alpha-beta (1);DNA topoisomerase, type IIA, central (1);DNA topoisomerase, type IIA, subunit B/N-terminal (1);	0.050009	0.85682	D	0.000000	T	0.43366	0.1244	M	0.82823	2.61	0.80722	D	1	P	0.42203	0.773	B	0.44108	0.441	T	0.48375	-0.9041	10	0.62326	D	0.03	.	19.7791	0.96410	0.0:0.0:1.0:0.0	.	593	P11388	TOP2A_HUMAN	S	593;673;616;629	ENSP00000411532:P593S	ENSP00000269577:P673S	P	-	1	0	TOP2A	35816428	1.000000	0.71417	1.000000	0.80357	0.004000	0.04260	9.779000	0.99018	2.763000	0.94921	0.650000	0.86243	CCT	TOP2A	-	superfamily_Topo_IIA_like_dom,smart_Topo_IIA	ENSG00000131747		0.353	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP2A	HGNC	protein_coding	OTTHUMT00000338035.1	-	0.00	29	0	G			38562902	-1	tier1	-	no_errors	ENST00000423485	ensembl	human	known	74_37	missense	46.32	51	44	SNP	1.000	A
TP53	7157	genome.wustl.edu	37	17	7577144	7577146	+	In_Frame_Del	DEL	AGT	AGT	-			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	AGT	AGT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr17:7577144_7577146delAGT	ENST00000269305.4	-	8	981_983	c.792_794delACT	c.(790-795)ctactg>ctg	p.264_265LL>L	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_In_Frame_Del_p.264_265LL>L|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_In_Frame_Del_p.264_265LL>L|TP53_ENST00000359597.4_In_Frame_Del_p.264_265LL>L|TP53_ENST00000420246.2_In_Frame_Del_p.264_265LL>L	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	264	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		L -> I (in sporadic cancers; somatic mutation).|L -> M (in sporadic cancers; somatic mutation).|L -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|L -> P (in a sporadic cancer; somatic mutation).|L -> Q (in a sporadic cancer; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|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)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.L265P(15)|p.0?(8)|p.L265R(5)|p.L264del(4)|p.?(4)|p.L265M(4)|p.L265fs*80(3)|p.G262_F270delGNLLGRNSF(2)|p.L265del(2)|p.G262_S269delGNLLGRNS(2)|p.N263fs*5(1)|p.264_265insSSGNL(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.L265Q(1)|p.L265fs*81(1)|p.G262fs*2(1)|p.L265L(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTTCCGTCCCAGTAGATTACCAC	0.517		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	58	Substitution - Missense(25)|Deletion - In frame(12)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(4)|Insertion - Frameshift(1)|Insertion - In frame(1)|Substitution - coding silent(1)	large_intestine(7)|breast(7)|oesophagus(6)|ovary(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|cervix(2)|stomach(2)|biliary_tract(2)|urinary_tract(2)|small_intestine(1)|liver(1)|skin(1)|eye(1)|pancreas(1)	GRCh37	CD004355|CM971505	TP53	D|M																																				SO:0001651	inframe_deletion	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.792_794delACT	17.37:g.7577144_7577146delAGT	ENSP00000269305:p.Leu265del		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	In_Frame_Del	DEL	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.L265in_frame_del	ENST00000269305.4	37	c.794_792	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.517	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0.00	26	0	AGT	NM_000546		7577146	-1	tier1		no_errors	ENST00000269305	ensembl	human	known	74_37	in_frame_del	31.82	15	7	DEL	1.000:0.980:0.433	-
TOP2A	7153	genome.wustl.edu	37	17	38563099	38563099	+	Silent	SNP	G	G	A			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr17:38563099G>A	ENST00000423485.1	-	14	1880	c.1722C>T	c.(1720-1722)atC>atT	p.I574I		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	574					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	CAATGGGAGTGATAAATTCCT	0.413																																																	0													56.0	52.0	54.0					17																	38563099		1870	4111	5981	SO:0001819	synonymous_variant	0				CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.1722C>T	17.37:g.38563099G>A			B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Silent	SNP	pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3	p.I574	ENST00000423485.1	37	c.1722	CCDS45672.1	17																																																																																			TOP2A	-	superfamily_Topo_IIA_like_dom,smart_Topo_IIA,prints_TopoII_euk,prints_Topo_IIA	ENSG00000131747		0.413	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP2A	HGNC	protein_coding	OTTHUMT00000338035.1	-	0.00	39	0	G			38563099	-1	tier1	-	no_errors	ENST00000423485	ensembl	human	known	74_37	silent	44.29	39	31	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179611821	179611821	+	Intron	SNP	A	A	G	rs397517814		TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr2:179611821A>G	ENST00000591111.1	-	46	10585				TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000360870.5_Silent_p.T5102T			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCGCTCTAGAGTCTCTCCTG	0.502																																																	0													65.0	75.0	72.0					2																	179611821		2203	4299	6502	SO:0001627	intron_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-5173T>C	2.37:g.179611821A>G			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T5102	ENST00000591111.1	37	c.15306		2																																																																																			TTN	-	NULL	ENSG00000155657		0.502	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	81	0	A	NM_133378		179611821	-1	tier1	-	no_errors	ENST00000360870	ensembl	human	known	74_37	silent	28.93	86	35	SNP	0.000	G
UBR5	51366	genome.wustl.edu	37	8	103283449	103283449	+	Missense_Mutation	SNP	C	C	T			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr8:103283449C>T	ENST00000520539.1	-	49	7604	c.6998G>A	c.(6997-6999)cGa>cAa	p.R2333Q	UBR5_ENST00000518205.1_Missense_Mutation_p.R62Q|UBR5_ENST00000521922.1_Missense_Mutation_p.R2327Q|UBR5_ENST00000220959.4_Missense_Mutation_p.R2333Q	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2333	Arg/Glu-rich (mixed charge).				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			tctctctccTCGGTTCCTTAA	0.403																																					Ovarian(131;96 1741 5634 7352 27489)												0													96.0	82.0	87.0					8																	103283449		2202	4300	6502	SO:0001583	missense	0			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.6998G>A	8.37:g.103283449C>T	ENSP00000429084:p.Arg2333Gln		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin	p.R2333Q	ENST00000520539.1	37	c.6998	CCDS34933.1	8	.	.	.	.	.	.	.	.	.	.	C	26.2	4.718902	0.89205	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000518205;ENST00000521922;ENST00000521566	T;T;T;T	0.55930	0.87;0.87;0.49;0.87	5.48	5.48	0.80851	HECT (1);	0.138182	0.44902	N	0.000403	T	0.62097	0.2400	L	0.43152	1.355	0.45791	D	0.998677	D;P	0.59357	0.985;0.934	P;P	0.55871	0.786;0.614	T	0.61642	-0.7021	10	0.49607	T	0.09	.	19.373	0.94498	0.0:1.0:0.0:0.0	.	2327;2333	E7EMW7;O95071	.;UBR5_HUMAN	Q	2333;2333;62;2327;158	ENSP00000429084:R2333Q;ENSP00000220959:R2333Q;ENSP00000428693:R62Q;ENSP00000427819:R2327Q	ENSP00000220959:R2333Q	R	-	2	0	UBR5	103352625	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.150000	0.77403	2.568000	0.86640	0.655000	0.94253	CGA	UBR5	-	superfamily_HECT	ENSG00000104517		0.403	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	HGNC	protein_coding	OTTHUMT00000380075.2	-	0.00	38	0	C	NM_015902		103283449	-1	tier1	-	no_errors	ENST00000520539	ensembl	human	known	74_37	missense	31.37	35	16	SNP	1.000	T
UCK2	7371	genome.wustl.edu	37	1	165865444	165865444	+	Missense_Mutation	SNP	C	C	T			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr1:165865444C>T	ENST00000367879.4	+	4	677	c.374C>T	c.(373-375)aCt>aTt	p.T125I	UCK2_ENST00000462329.1_3'UTR|UCK2_ENST00000372212.4_Intron|RP11-525G13.2_ENST00000455257.2_RNA|UCK2_ENST00000469256.2_5'UTR|UCK2_ENST00000470820.1_5'UTR	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	125					cellular response to oxygen levels (GO:0071453)|CTP salvage (GO:0044211)|feeding behavior (GO:0007631)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|response to axon injury (GO:0048678)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|nucleoside kinase activity (GO:0019206)|uridine kinase activity (GO:0004849)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					GAGACAGTTACTGTCTATCCC	0.537																																																	0													207.0	192.0	197.0					1																	165865444		2203	4300	6503	SO:0001583	missense	0			AF236637	CCDS1252.1	1p32	2012-10-02	2004-07-13	2004-07-14	ENSG00000143179	ENSG00000143179	2.7.1.48		12562	protein-coding gene	gene with protein product		609329	"""uridine monophosphate kinase"""	UMPK			Standard	NM_012474		Approved		uc001gdp.3	Q9BZX2	OTTHUMG00000040117	ENST00000367879.4:c.374C>T	1.37:g.165865444C>T	ENSP00000356853:p.Thr125Ile		Q5VV91|Q7KZV3|Q92528|Q96KG5|Q9BU42	Missense_Mutation	SNP	pfam_PRK/URK,pfam_Depp_CoAkinase,superfamily_P-loop_NTPase,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase	p.T125I	ENST00000367879.4	37	c.374	CCDS1252.1	1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.890287	0.33348	.	.	ENSG00000143179	ENST00000367879	.	.	.	5.29	4.38	0.52667	Phosphoribulokinase/uridine kinase (1);	0.097704	0.64402	D	0.000001	T	0.25082	0.0609	L	0.50919	1.6	0.50813	D	0.999899	B	0.14805	0.011	B	0.17979	0.02	T	0.08889	-1.0700	8	0.26408	T	0.33	-18.959	8.0262	0.30438	0.0:0.8178:0.0:0.1822	.	125	Q9BZX2	UCK2_HUMAN	I	125	.	ENSP00000356853:T125I	T	+	2	0	UCK2	164132068	0.977000	0.34250	0.016000	0.15963	0.967000	0.64934	2.497000	0.45354	1.238000	0.43771	0.655000	0.94253	ACT	UCK2	-	pfam_PRK/URK,pfam_Depp_CoAkinase,superfamily_P-loop_NTPase,tigrfam_Uridine_kinase	ENSG00000143179		0.537	UCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCK2	HGNC	protein_coding	OTTHUMT00000096753.1	-	0.00	47	0	C	NM_012474		165865444	+1	tier1	-	no_errors	ENST00000367879	ensembl	human	known	74_37	missense	36.23	44	25	SNP	0.207	T
UNC5D	137970	genome.wustl.edu	37	8	35624429	35624429	+	Missense_Mutation	SNP	T	T	A			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr8:35624429T>A	ENST00000404895.2	+	15	2651	c.2323T>A	c.(2323-2325)Ttc>Atc	p.F775I	UNC5D_ENST00000449677.1_Missense_Mutation_p.F351I|UNC5D_ENST00000453357.2_Missense_Mutation_p.F770I|UNC5D_ENST00000287272.2_Missense_Mutation_p.F706I|UNC5D_ENST00000420357.1_Missense_Mutation_p.F708I|UNC5D_ENST00000416672.1_Missense_Mutation_p.F780I	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	775					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GGAAGTCCCGTTCTCCCGCGT	0.552																																																	0													86.0	74.0	78.0					8																	35624429		2203	4300	6503	SO:0001583	missense	0			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2323T>A	8.37:g.35624429T>A	ENSP00000385143:p.Phe775Ile		Q8WYP7	Missense_Mutation	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.F775I	ENST00000404895.2	37	c.2323	CCDS6093.2	8	.	.	.	.	.	.	.	.	.	.	T	35	5.455113	0.96223	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.61392	0.13;0.54;0.51;0.14;0.11;1.99	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.78457	0.4286	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.83275	0.994;0.996;0.991	T	0.81933	-0.0706	10	0.87932	D	0	-26.7883	16.1376	0.81497	0.0:0.0:0.0:1.0	.	351;770;775	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	I	775;708;706;780;770;351	ENSP00000385143:F775I;ENSP00000392739:F708I;ENSP00000287272:F706I;ENSP00000412652:F780I;ENSP00000394303:F770I;ENSP00000397211:F351I	ENSP00000287272:F706I	F	+	1	0	UNC5D	35743971	1.000000	0.71417	0.930000	0.37139	0.992000	0.81027	8.040000	0.89188	2.212000	0.71576	0.533000	0.62120	TTC	UNC5D	-	NULL	ENSG00000156687		0.552	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC5D	HGNC	protein_coding	OTTHUMT00000347586.2	-	0.00	57	0	T			35624429	+1	tier1	-	no_errors	ENST00000404895	ensembl	human	known	74_37	missense	30.19	37	16	SNP	0.999	A
USP9X	8239	genome.wustl.edu	37	X	41000020	41000020	+	Missense_Mutation	SNP	A	A	C			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chrX:41000020A>C	ENST00000324545.8	+	7	1399	c.766A>C	c.(766-768)Att>Ctt	p.I256L	USP9X_ENST00000378308.2_Missense_Mutation_p.I256L	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	256					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TGCAGCCCTTATTAAGTAAGT	0.323																																					Ovarian(172;1807 2695 35459 49286)												0													65.0	58.0	61.0					X																	41000020		2202	4297	6499	SO:0001583	missense	0			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.766A>C	X.37:g.41000020A>C	ENSP00000316357:p.Ile256Leu		O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67	p.I256L	ENST00000324545.8	37	c.766	CCDS43930.1	X	.	.	.	.	.	.	.	.	.	.	A	12.73	2.024680	0.35701	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.75260	-0.92;-0.92	6.06	6.06	0.98353	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.55033	0.1895	N	0.12637	0.245	0.80722	D	1	B;B	0.20052	0.041;0.024	B;B	0.19946	0.027;0.012	T	0.54807	-0.8238	10	0.02654	T	1	.	15.4917	0.75611	1.0:0.0:0.0:0.0	.	256;256	Q93008-1;Q93008	.;USP9X_HUMAN	L	256	ENSP00000367558:I256L;ENSP00000316357:I256L	ENSP00000316357:I256L	I	+	1	0	USP9X	40884964	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.962000	0.93254	2.043000	0.60533	0.481000	0.45027	ATT	USP9X	-	NULL	ENSG00000124486		0.323	USP9X-003	KNOWN	basic|CCDS	protein_coding	USP9X	HGNC	protein_coding	OTTHUMT00000056250.4	-	0.00	71	0	A	NM_004652		41000020	+1	tier1	-	no_errors	ENST00000324545	ensembl	human	known	74_37	missense	7.35	126	10	SNP	1.000	C
VIT	5212	genome.wustl.edu	37	2	36986238	36986238	+	Intron	SNP	C	C	T	rs61745550		TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr2:36986238C>T	ENST00000389975.3	+	6	789				VIT_ENST00000497382.1_Intron|VIT_ENST00000404084.1_Intron|VIT_ENST00000379241.3_Intron|VIT_ENST00000379242.3_Intron|VIT_ENST00000401530.1_Intron|VIT_ENST00000457137.2_Missense_Mutation_p.T179M	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin						extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TCCATGAACACGCGACGTGTT	0.473																																																	0								C	,,,MET/THR,	0,4406		0,0,2203	81.0	79.0	80.0		,,,536,	-9.0	0.0	2	dbSNP_129	80	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,intron,missense,intron	VIT	NM_001177969.1,NM_001177970.1,NM_001177971.1,NM_001177972.1,NM_053276.3	,,,81,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,	,,,179/204,	36986238	1,13005	2203	4300	6503	SO:0001627	intron_variant	0			AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.487+49C>T	2.37:g.36986238C>T			A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	pfam_LCCL,superfamily_LCCL,smart_LCCL,pfscan_LCCL	p.T179M	ENST00000389975.3	37	c.536	CCDS54347.1	2	.	.	.	.	.	.	.	.	.	.	C	0.694	-0.793228	0.02862	0.0	1.16E-4	ENSG00000205221	ENST00000457137	D	0.90955	-2.76	4.76	-8.99	0.00751	.	.	.	.	.	T	0.75191	0.3816	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.61028	-0.7145	7	.	.	.	.	2.598	0.04859	0.1019:0.172:0.3305:0.3957	rs61745550	179	Q6UXI7-3	.	M	179	ENSP00000393561:T179M	.	T	+	2	0	VIT	36839742	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.208000	0.00557	-1.426000	0.01994	-0.519000	0.04390	ACG	VIT	-	NULL	ENSG00000205221		0.473	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	VIT	HGNC	protein_coding		-	0.00	27	0	C			36986238	+1	tier1	rs61745550	no_errors	ENST00000457137	ensembl	human	known	74_37	missense	37.04	17	10	SNP	0.000	T
WNK4	65266	genome.wustl.edu	37	17	40937166	40937166	+	Missense_Mutation	SNP	A	A	T	rs369420670		TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr17:40937166A>T	ENST00000246914.5	+	5	1243	c.1222A>T	c.(1222-1224)Atc>Ttc	p.I408F		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	408	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GGTGAAGGAGATCATTGAAGG	0.617																																					Esophageal Squamous(6;201 374 4964 23855 42828)												0								A	PHE/ILE	0,4406		0,0,2203	71.0	67.0	68.0		1222	5.1	1.0	17		68	1,8599	1.2+/-3.3	0,1,4299	no	missense	WNK4	NM_032387.4	21	0,1,6502	TT,TA,AA		0.0116,0.0,0.0077	probably-damaging	408/1244	40937166	1,13005	2203	4300	6503	SO:0001583	missense	0			AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.1222A>T	17.37:g.40937166A>T	ENSP00000246914:p.Ile408Phe		B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	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.I408F	ENST00000246914.5	37	c.1222	CCDS11439.1	17	.	.	.	.	.	.	.	.	.	.	A	25.1	4.607589	0.87157	0.0	1.16E-4	ENSG00000126562	ENST00000246914;ENST00000316085	T	0.64260	-0.09	5.13	5.13	0.70059	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49305	D	0.000150	T	0.48943	0.1528	N	0.01152	-0.98	0.54753	D	0.999983	D;D	0.52996	0.957;0.957	P;P	0.56042	0.79;0.79	T	0.68364	-0.5428	10	0.87932	D	0	-16.346	14.6023	0.68450	1.0:0.0:0.0:0.0	.	408;408	B0LPI0;Q96J92	.;WNK4_HUMAN	F	408;180	ENSP00000246914:I408F	ENSP00000246914:I408F	I	+	1	0	WNK4	38190692	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.331000	0.96430	1.924000	0.55735	0.454000	0.30748	ATC	WNK4	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000126562		0.617	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK4	HGNC	protein_coding	OTTHUMT00000452389.1	-	0.00	72	0	A			40937166	+1	tier1	-	no_errors	ENST00000246914	ensembl	human	known	74_37	missense	19.47	91	22	SNP	1.000	T
YWHAH	7533	genome.wustl.edu	37	22	32353391	32353392	+	3'UTR	INS	-	-	TT	rs34145379|rs539195869|rs398036900|rs71697808		TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr22:32353391_32353392insTT	ENST00000248975.5	+	0	1626_1627				YWHAH_ENST00000397492.1_3'UTR|YWHAH_ENST00000471374.1_3'UTR	NM_003405.3	NP_003396.1	Q04917	1433F_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta						apoptotic process (GO:0006915)|glucocorticoid catabolic process (GO:0006713)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular protein transport (GO:0006886)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane depolarization during action potential (GO:0086010)|membrane organization (GO:0061024)|negative regulation of dendrite morphogenesis (GO:0050774)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of sodium ion transport (GO:0002028)|regulation of synaptic plasticity (GO:0048167)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|glucocorticoid receptor binding (GO:0035259)|insulin-like growth factor receptor binding (GO:0005159)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						ATACTTGTAACTTTTTTTTTTT	0.351																																					Ovarian(98;460 2060 9263 44007)												0																																										SO:0001624	3_prime_UTR_variant	0			X78138	CCDS13901.1	22q12.1-q13.1	2013-12-03	2013-12-03		ENSG00000128245	ENSG00000128245			12853	protein-coding gene	gene with protein product	"""14-3-3 eta"""	113508	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide"""	YWHA1			Standard	NM_003405		Approved		uc003alz.3	Q04917	OTTHUMG00000030833	ENST00000248975.5:c.*613->TT	22.37:g.32353400_32353401dupTT				RNA	INS	-	NULL	ENST00000248975.5	37	NULL	CCDS13901.1	22																																																																																			YWHAH	-	-	ENSG00000128245		0.351	YWHAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YWHAH	HGNC	protein_coding	OTTHUMT00000075721.2		0.00	37	0	-	NM_003405		32353392	+1	tier1		no_errors	ENST00000471374	ensembl	human	known	74_37	rna	6.67	42	3	INS	0.998:1.000	TT
ZBTB17	7709	genome.wustl.edu	37	1	16269989	16269989	+	Missense_Mutation	SNP	C	C	T			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr1:16269989C>T	ENST00000375743.4	-	12	1834	c.1602G>A	c.(1600-1602)atG>atA	p.M534I	ZBTB17_ENST00000537142.1_Missense_Mutation_p.M452I|ZBTB17_ENST00000479282.1_5'Flank|ZBTB17_ENST00000375733.2_Missense_Mutation_p.M534I	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	534					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTACCGCACATCACACACT	0.667																																																	0													95.0	103.0	100.0					1																	16269989		2203	4300	6503	SO:0001583	missense	0			U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12936	protein-coding gene	gene with protein product		604084	"""zinc finger protein 151 (pHZ-67)"", ""zinc finger protein 60"""	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.1602G>A	1.37:g.16269989C>T	ENSP00000364895:p.Met534Ile		A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.M534I	ENST00000375743.4	37	c.1602	CCDS165.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.522|4.522	0.096945|0.096945	0.08681|0.08681	.|.	.|.	ENSG00000116809|ENSG00000116809	ENST00000444358|ENST00000375743;ENST00000375733;ENST00000444654;ENST00000537142;ENST00000375729	.|T;T;T	.|0.03831	.|3.79;3.79;3.79	4.86|4.86	-0.0122|-0.0122	0.13989|0.13989	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.325592	.|0.31847	.|N	.|0.006974	T|T	0.01353|0.01353	0.0044|0.0044	N|N	0.00459|0.00459	-1.475|-1.475	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.01281	.|0.0;0.0;0.0	T|T	0.51180|0.51180	-0.8738|-0.8738	5|10	.|0.66056	.|D	.|0.02	.|.	7.6669|7.6669	0.28437|0.28437	0.0:0.4286:0.3836:0.1878|0.0:0.4286:0.3836:0.1878	.|.	.|534;452;534	.|Q13105-2;F5H411;Q13105	.|.;.;ZBT17_HUMAN	Y|I	91|534;534;453;452;90	.|ENSP00000364895:M534I;ENSP00000364885:M534I;ENSP00000438529:M452I	.|ENSP00000364881:M90I	C|M	-|-	2|3	0|0	ZBTB17|ZBTB17	16142576|16142576	0.998000|0.998000	0.40836|0.40836	0.999000|0.999000	0.59377|0.59377	0.041000|0.041000	0.13682|0.13682	0.453000|0.453000	0.21811|0.21811	0.164000|0.164000	0.19529|0.19529	0.563000|0.563000	0.77884|0.77884	TGT|ATG	ZBTB17	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000116809		0.667	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB17	HGNC	protein_coding	OTTHUMT00000025998.1	-	0.00	46	0	C	NM_003443		16269989	-1	tier1	-	no_errors	ENST00000375733	ensembl	human	known	74_37	missense	25.81	46	16	SNP	0.970	T
ZBTB38	253461	genome.wustl.edu	37	3	141162393	141162393	+	Missense_Mutation	SNP	G	G	T	rs555322688		TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr3:141162393G>T	ENST00000514251.1	+	4	1442	c.1163G>T	c.(1162-1164)cGg>cTg	p.R388L	ZBTB38_ENST00000321464.5_Missense_Mutation_p.R389L|ZBTB38_ENST00000441582.2_Missense_Mutation_p.R388L					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AGGTTGGATCGGCATGAACAG	0.478																																																	0													131.0	128.0	129.0					3																	141162393		1942	4137	6079	SO:0001583	missense	0			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.1163G>T	3.37:g.141162393G>T	ENSP00000426387:p.Arg388Leu			Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R389L	ENST00000514251.1	37	c.1166	CCDS43157.1	3	.	.	.	.	.	.	.	.	.	.	G	13.90	2.376291	0.42105	.	.	ENSG00000177311	ENST00000509883;ENST00000514251;ENST00000441582;ENST00000321464	T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3	5.72	4.66	0.58398	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.300838	0.33346	N	0.005001	T	0.69895	0.3162	L	0.27053	0.805	0.19945	N	0.999941	P;P	0.49961	0.858;0.93	B;B	0.43274	0.411;0.414	T	0.64050	-0.6498	9	.	.	.	-20.5499	11.9135	0.52753	0.0763:0.1269:0.7967:0.0	.	389;388	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	L	388;388;388;389	ENSP00000424254:R388L;ENSP00000426387:R388L;ENSP00000406955:R388L;ENSP00000372635:R389L	.	R	+	2	0	ZBTB38	142645083	0.994000	0.37717	0.972000	0.41901	0.896000	0.52359	2.593000	0.46180	2.699000	0.92147	0.591000	0.81541	CGG	ZBTB38	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000177311		0.478	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB38	HGNC	protein_coding	OTTHUMT00000359329.2	-	0.00	32	0	G			141162393	+1	tier1	-	no_errors	ENST00000321464	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.349	T
ZEB1	6935	genome.wustl.edu	37	10	31791302	31791302	+	Missense_Mutation	SNP	G	G	T			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr10:31791302G>T	ENST00000320985.10	+	4	456	c.346G>T	c.(346-348)Gca>Tca	p.A116S	ZEB1_ENST00000542815.3_Missense_Mutation_p.A49S|ZEB1_ENST00000361642.5_Missense_Mutation_p.A117S|ZEB1_ENST00000560721.2_Missense_Mutation_p.A96S|ZEB1_ENST00000446923.2_Missense_Mutation_p.A100S|ZEB1_ENST00000559858.1_3'UTR			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	116					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CGAGTCAGATGCAGAAAATGA	0.358																																					Ovarian(40;423 959 14296 36701 49589)												0													112.0	102.0	105.0					10																	31791302		2203	4300	6503	SO:0001583	missense	0			AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.346G>T	10.37:g.31791302G>T	ENSP00000319248:p.Ala116Ser		B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.A117S	ENST00000320985.10	37	c.349	CCDS7169.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.21|14.21	2.466046|2.466046	0.43839|0.43839	.|.	.|.	ENSG00000148516|ENSG00000148516	ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000424869;ENST00000446923|ENST00000543514	T;T;T;T;T|.	0.79749|.	-1.3;-1.3;-1.3;1.02;-1.3|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.000000|.	0.64402|.	D|.	0.000011|.	T|T	0.66587|0.66587	0.2804|0.2804	L|L	0.51422|0.51422	1.61|1.61	0.38671|0.38671	D|D	0.952312|0.952312	P;P;P;P;P;P|.	0.45348|.	0.856;0.666;0.47;0.59;0.47;0.47|.	P;B;B;B;B;B|.	0.52881|.	0.712;0.182;0.139;0.248;0.15;0.139|.	T|T	0.70189|0.70189	-0.4940|-0.4940	10|6	0.36615|0.87932	T|D	0.2|0	-22.8471|-22.8471	15.756|15.756	0.78025|0.78025	0.0:0.1356:0.8644:0.0|0.0:0.1356:0.8644:0.0	.|.	49;100;116;96;117;116|.	F5H4I8;E9PCM7;B2RBI8;Q5VZ84;Q2KJ05;P37275|.	.;.;.;.;.;ZEB1_HUMAN|.	S|I	116;117;116;49;116;96;117;100|7	ENSP00000354487:A117S;ENSP00000444891:A49S;ENSP00000319248:A116S;ENSP00000415961:A117S;ENSP00000391612:A100S|.	ENSP00000319248:A116S|ENSP00000443742:M7I	A|M	+|+	1|3	0|0	ZEB1|ZEB1	31831308|31831308	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.717000|6.717000	0.74707|0.74707	2.800000|2.800000	0.96347|0.96347	0.650000|0.650000	0.86243|0.86243	GCA|ATG	ZEB1	-	NULL	ENSG00000148516		0.358	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZEB1	HGNC	protein_coding	OTTHUMT00000419083.2	-	0.00	36	0	G	NM_030751		31791302	+1	tier1	-	no_errors	ENST00000361642	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T
ZIC2	7546	genome.wustl.edu	37	13	100635191	100635191	+	Missense_Mutation	SNP	C	C	G			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr13:100635191C>G	ENST00000376335.3	+	1	1166	c.873C>G	c.(871-873)caC>caG	p.H291Q		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	291			H -> Y (in HPE5). {ECO:0000269|PubMed:19177455}.		brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CGGTGGAGCACGTCGGCGGCC	0.587																																					Pancreas(97;119 1522 31925 44771 48764)												0													119.0	119.0	119.0					13																	100635191		2203	4300	6503	SO:0001583	missense	0			AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.873C>G	13.37:g.100635191C>G	ENSP00000365514:p.His291Gln		Q5VYA9|Q9H309	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H291Q	ENST00000376335.3	37	c.873	CCDS9495.1	13	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061347	0.55432	.	.	ENSG00000043355	ENST00000376335;ENST00000397444	D	0.92446	-3.04	4.69	0.987	0.19790	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	D	0.95510	0.8541	M	0.87269	2.87	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	D	0.94384	0.7607	10	0.87932	D	0	.	9.9544	0.41657	0.0:0.5693:0.0:0.4307	.	291	O95409	ZIC2_HUMAN	Q	291;40	ENSP00000365514:H291Q	ENSP00000365514:H291Q	H	+	3	2	ZIC2	99433192	0.860000	0.29831	1.000000	0.80357	0.910000	0.53928	0.020000	0.13466	0.297000	0.22615	-0.258000	0.10820	CAC	ZIC2	-	smart_Znf_C2H2-like	ENSG00000043355		0.587	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC2	HGNC	protein_coding	OTTHUMT00000045618.2	-	0.00	64	0	C	NM_007129		100635191	+1	tier1	-	no_errors	ENST00000376335	ensembl	human	known	74_37	missense	32.26	42	20	SNP	1.000	G
ZNF385A	25946	genome.wustl.edu	37	12	54764155	54764155	+	Missense_Mutation	SNP	C	C	A			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr12:54764155C>A	ENST00000338010.5	-	8	1099	c.1046G>T	c.(1045-1047)cGc>cTc	p.R349L	RP11-753H16.5_ENST00000552785.1_RNA|ZNF385A_ENST00000546970.1_Missense_Mutation_p.R329L|ZNF385A_ENST00000552382.1_5'UTR|ZNF385A_ENST00000551109.1_Missense_Mutation_p.R329L|RP11-753H16.3_ENST00000550474.1_RNA|ZNF385A_ENST00000394313.2_Missense_Mutation_p.R329L|ZNF385A_ENST00000551771.1_Missense_Mutation_p.R248L|ZNF385A_ENST00000352268.6_Missense_Mutation_p.R268L	NM_001130967.1	NP_001124439.1	Q96PM9	Z385A_HUMAN	zinc finger protein 385A	349	Necessary for binding to ITPR1, CEBPA and p53/TP53 mRNAs. {ECO:0000250}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|hemostasis (GO:0007599)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)|positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:1902164)|positive regulation of fat cell differentiation (GO:0045600)|regulation of cytoplasmic translation (GO:2000765)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA 3'-UTR binding (GO:0003730)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						TGGAGCCGGGCGCAGGGACAG	0.721											OREG0021894	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													14.0	14.0	14.0					12																	54764155		1949	3867	5816	SO:0001583	missense	0			AF304052	CCDS8879.1, CCDS44910.1, CCDS44911.1	12q13.13	2012-10-05	2007-12-06	2007-12-06		ENSG00000161642			17521	protein-coding gene	gene with protein product		609124	"""zinc finger protein 385"""	ZNF385			Standard	XM_005268785		Approved	DKFZp586G1122, Hzf, ZFP385	uc001sfy.3	Q96PM9	OTTHUMG00000169840	ENST00000338010.5:c.1046G>T	12.37:g.54764155C>A	ENSP00000338927:p.Arg349Leu	1002	B2RDN5|B4DKH2|F1T0F1|J3KNS3|Q5VH53|Q9H7R6|Q9UFU3	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	p.R349L	ENST00000338010.5	37	c.1046	CCDS44911.1	12	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349329	0.61183	.	.	ENSG00000161642	ENST00000551109;ENST00000352268;ENST00000394313;ENST00000338010;ENST00000546970;ENST00000551771	T;T;T;T;T;T	0.49432	1.34;0.78;1.34;1.33;1.34;0.79	3.72	1.83	0.25207	.	0.000000	0.64402	D	0.000002	T	0.58892	0.2154	M	0.68317	2.08	0.51012	D	0.999901	B;D;D	0.76494	0.364;0.999;0.999	B;D;D	0.79784	0.129;0.993;0.993	T	0.53493	-0.8431	10	0.31617	T	0.26	-10.1266	7.0016	0.24813	0.0:0.7215:0.1754:0.1031	.	248;329;329	Q96PM9-2;Q96PM9;F1T0F1	.;Z385A_HUMAN;.	L	329;268;329;349;329;248	ENSP00000449161:R329L;ENSP00000293385:R268L;ENSP00000377849:R329L;ENSP00000338927:R349L;ENSP00000446913:R329L;ENSP00000447162:R248L	ENSP00000338927:R349L	R	-	2	0	ZNF385A	53050422	0.998000	0.40836	0.994000	0.49952	0.926000	0.56050	2.723000	0.47277	0.372000	0.24591	-0.727000	0.03589	CGC	ZNF385A	-	NULL	ENSG00000161642		0.721	ZNF385A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF385A	HGNC	protein_coding	OTTHUMT00000406162.1	-	0.00	50	0	C	NM_015481		54764155	-1	tier1	-	no_errors	ENST00000338010	ensembl	human	known	74_37	missense	43.69	58	45	SNP	1.000	A
ZNF487	642819	genome.wustl.edu	37	10	43977986	43977986	+	Missense_Mutation	SNP	C	C	A			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr10:43977986C>A	ENST00000431662.1	+	5	901	c.901C>A	c.(901-903)Ctt>Att	p.L301I	ZNF487_ENST00000437590.2_3'UTR			B1APH4	ZN487_HUMAN	zinc finger protein 487	301					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										GAAGTCAAATCTTCATGTACA	0.393																																																	0																																										SO:0001583	missense	0					10q11.21	2013-06-03	2013-03-06	2013-03-06	ENSG00000243660	ENSG00000243660			23488	other	unknown			"""KRAB domain only 1"", ""zinc finger protein 487, pseudogene"""	KRBO1, ZNF487P			Standard	NR_026693		Approved			B1APH4	OTTHUMG00000185507	ENST00000431662.1:c.901C>A	10.37:g.43977986C>A	ENSP00000388421:p.Leu301Ile		B1APH5|B7Z7S5	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L301I	ENST00000431662.1	37	c.901		10	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854796	0.51376	.	.	ENSG00000243660	ENST00000431662	T	0.74947	-0.89	1.51	1.51	0.23008	.	.	.	.	.	T	0.78013	0.4217	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.79117	-0.1935	6	0.87932	D	0	.	9.1287	0.36833	0.0:1.0:0.0:0.0	.	.	.	.	I	301	ENSP00000388421:L301I	ENSP00000388421:L301I	L	+	1	0	ZNF487P	43297992	0.435000	0.25577	0.714000	0.30535	0.923000	0.55619	0.950000	0.29122	1.174000	0.42811	0.454000	0.30748	CTT	ZNF487	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000243660		0.393	ZNF487-201	KNOWN	basic|appris_principal	protein_coding	ZNF487	HGNC	protein_coding			0.00	32	0	C	XM_926224		43977986	+1			no_errors	ENST00000431662	ensembl	human	known	74_37	missense	8.82	31	3	SNP	0.750	A
ZNF695	57116	genome.wustl.edu	37	1	247151190	247151190	+	Missense_Mutation	SNP	C	C	A			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr1:247151190C>A	ENST00000339986.7	-	4	774	c.627G>T	c.(625-627)gaG>gaT	p.E209D	ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Intron	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	209					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GGTACGGGTTCTCTCCAATAT	0.378																																																	0													80.0	81.0	81.0					1																	247151190		1978	4163	6141	SO:0001583	missense	0				CCDS44344.1, CCDS55694.1	1q44	2013-01-08			ENSG00000197472	ENSG00000197472		"""Zinc fingers, C2H2-type"", ""-"""	30954	protein-coding gene	gene with protein product						12477932	Standard	NM_020394		Approved	SBZF3	uc009xgu.3	Q8IW36	OTTHUMG00000040707	ENST00000339986.7:c.627G>T	1.37:g.247151190C>A	ENSP00000341236:p.Glu209Asp		Q5T0N9|Q5T0P1|Q5T0P3|Q7Z2W8|Q7Z648	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.E209D	ENST00000339986.7	37	c.627	CCDS44344.1	1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.464174	0.26335	.	.	ENSG00000197472	ENST00000339986	T	0.26810	1.71	0.479	0.479	0.16796	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36468	0.0968	M	0.74467	2.265	0.27811	N	0.942127	D	0.65815	0.995	P	0.53360	0.724	T	0.20571	-1.0271	9	0.52906	T	0.07	.	6.6915	0.23174	0.0:0.9998:0.0:2.0E-4	.	209	Q8IW36	ZN695_HUMAN	D	209	ENSP00000341236:E209D	ENSP00000341236:E209D	E	-	3	2	ZNF695	245217813	0.860000	0.29831	0.385000	0.26158	0.183000	0.23260	0.125000	0.15749	0.507000	0.28148	0.195000	0.17529	GAG	ZNF695	-	pfscan_Znf_C2H2	ENSG00000197472		0.378	ZNF695-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF695	HGNC	protein_coding	OTTHUMT00000097823.5	-	0.00	35	0	C	NM_020394		247151190	-1	tier1	-	no_errors	ENST00000339986	ensembl	human	known	74_37	missense	29.41	36	15	SNP	1.000	A
ZNF816	125893	genome.wustl.edu	37	19	53453725	53453725	+	Silent	SNP	G	G	T			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr19:53453725G>T	ENST00000357666.4	-	5	1603	c.1303C>A	c.(1303-1305)Cgg>Agg	p.R435R	ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Silent_p.R435R	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	435					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						GAATCACTCCGGAAAACCTTG	0.408																																																	0													119.0	119.0	119.0					19																	53453725		2203	4300	6503	SO:0001819	synonymous_variant	0			BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"""Zinc fingers, C2H2-type"", ""-"""	26995	protein-coding gene	gene with protein product			"""zinc finger protein 816A"""	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.1303C>A	19.37:g.53453725G>T			A8K7H5|Q3KR39|Q659B3	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.R435	ENST00000357666.4	37	c.1303	CCDS33096.1	19																																																																																			ZNF816	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000180257		0.408	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF816	HGNC	protein_coding	OTTHUMT00000396132.1	-	0.00	108	0	G	NM_001031665		53453725	-1	tier1	-	no_errors	ENST00000357666	ensembl	human	known	74_37	silent	32.84	90	44	SNP	0.017	T
ZNF845	91664	genome.wustl.edu	37	19	53856048	53856048	+	Missense_Mutation	SNP	T	T	A	rs551941244		TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr19:53856048T>A	ENST00000595091.1	+	5	2339	c.2120T>A	c.(2119-2121)aTa>aAa	p.I707K	ZNF845_ENST00000458035.1_Missense_Mutation_p.I707K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	707				Missing (in Ref. 1; BAG58121). {ECO:0000305}.	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(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TCAGCCCTTATAATTCACAAG	0.433																																																	0													101.0	98.0	98.0					19																	53856048		692	1591	2283	SO:0001583	missense	0			BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2120T>A	19.37:g.53856048T>A	ENSP00000470005:p.Ile707Lys			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.I707K	ENST00000595091.1	37	c.2120	CCDS46170.1	19	.	.	.	.	.	.	.	.	.	.	T	4.763	0.141826	0.09083	.	.	ENSG00000213799	ENST00000458035	T	0.08282	3.11	2.22	-4.43	0.03568	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01870	0.0059	N	0.00960	-1.095	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.37291	-0.9712	9	0.15952	T	0.53	.	2.4666	0.04554	0.1248:0.456:0.2509:0.1684	.	707	Q96IR2	ZN845_HUMAN	K	707	ENSP00000388311:I707K	ENSP00000388311:I707K	I	+	2	0	ZNF845	58547860	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.333000	0.01108	-2.463000	0.00535	-0.467000	0.05162	ATA	ZNF845	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000213799		0.433	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	ZNF845	HGNC	protein_coding	OTTHUMT00000464359.1	-	0.00	57	0	T	XM_039908		53856048	+1	tier1	-	no_errors	ENST00000458035	ensembl	human	known	74_37	missense	7.89	105	9	SNP	0.000	A
ZNF835	90485	genome.wustl.edu	37	19	57175697	57175697	+	Silent	SNP	G	G	A			TCGA-M9-A5M8-01A-11D-A28B-09	TCGA-M9-A5M8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	978c5bbb-bdc3-4ebe-a42f-55c0bbdbfe67	c8e4d1cd-6bfe-4cc0-8eb6-114d3ab4f097	g.chr19:57175697G>A	ENST00000537055.2	-	2	1101	c.870C>T	c.(868-870)atC>atT	p.I290I		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	290					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TCAGGTGCGCGATCTGCGCGA	0.697																																																	0													19.0	20.0	19.0					19																	57175697		2196	4294	6490	SO:0001819	synonymous_variant	0			AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.870C>T	19.37:g.57175697G>A			B7Z5Y0|G3V1S0	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I290	ENST00000537055.2	37	c.870	CCDS56105.1	19																																																																																			ZNF835	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000127903		0.697	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF835	HGNC	protein_coding	OTTHUMT00000459800.1	-	0.00	90	0	G	NM_001005850		57175697	-1	tier1	-	no_errors	ENST00000537055	ensembl	human	known	74_37	silent	8.55	107	10	SNP	0.000	A
