#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
NRDE2	55051	genome.wustl.edu	37	14	90754814	90754814	+	Silent	SNP	G	G	A			TCGA-AR-A1AO-01A-11D-A12Q-09	TCGA-AR-A1AO-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b841db95-2eff-4181-8d44-3cde2f2f9e70	1569c114-c779-4135-9978-99aa3ac67035	g.chr14:90754814G>A	ENST00000354366.3	-	11	3137	c.2905C>T	c.(2905-2907)Ctg>Ttg	p.L969L	NRDE2_ENST00000357904.3_Silent_p.L738L	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	969																	TGGAATCTCAGCAGGCTCGTG	0.547																																						dbGAP											0													92.0	89.0	90.0					14																	90754814		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.2905C>T	14.37:g.90754814G>A			B4DH71|Q4G0A7|Q9NWH6	Silent	SNP	pfam_NRDE-2	p.L969	ENST00000354366.3	37	c.2905	CCDS9890.1	14																																																																																			C14orf102	-	NULL	ENSG00000119720		0.547	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf102	HGNC	protein_coding	OTTHUMT00000411264.1	184	0.00	0	G	NM_017970		90754814	90754814	-1	no_errors	ENST00000354366	ensembl	human	known	69_37n	silent	231	13.81	37	SNP	1.000	A
CEP170	9859	genome.wustl.edu	37	1	243349521	243349521	+	Intron	SNP	C	C	G			TCGA-AR-A1AO-01A-11D-A12Q-09	TCGA-AR-A1AO-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b841db95-2eff-4181-8d44-3cde2f2f9e70	1569c114-c779-4135-9978-99aa3ac67035	g.chr1:243349521C>G	ENST00000366542.1	-	9	1324				CEP170_ENST00000366543.1_Intron|CEP170_ENST00000366544.1_Intron	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa							centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CTGGGATTGTCTTCATCAAAG	0.383																																						dbGAP											0													96.0	91.0	93.0					1																	243349521		1847	4083	5930	-	-	-	SO:0001627	intron_variant	0			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.1272+39G>C	1.37:g.243349521C>G			O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.K339N	ENST00000366542.1	37	c.1017	CCDS44339.1	1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461782	0.63513	.	.	ENSG00000143702	ENST00000336415	.	.	.	5.3	4.39	0.52855	.	.	.	.	.	T	0.69753	0.3146	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68739	-0.5329	4	.	.	.	.	14.0119	0.64503	0.0:0.9268:0.0:0.0732	.	.	.	.	N	339	.	.	K	-	3	2	CEP170	241416144	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.671000	0.61590	1.228000	0.43614	0.585000	0.79938	AAG	CEP170	-	NULL	ENSG00000143702		0.383	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CEP170	HGNC	protein_coding	OTTHUMT00000096178.2	356	0.00	0	C	NM_014812		243349521	243349521	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000336415	ensembl	human	novel	69_37n	missense	331	12.20	46	SNP	1.000	G
COL6A5	256076	genome.wustl.edu	37	3	130150403	130150403	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A1AO-01A-11D-A12Q-09	TCGA-AR-A1AO-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b841db95-2eff-4181-8d44-3cde2f2f9e70	1569c114-c779-4135-9978-99aa3ac67035	g.chr3:130150403C>G	ENST00000432398.2	+	33	5837	c.5343C>G	c.(5341-5343)atC>atG	p.I1781M	COL6A5_ENST00000265379.6_Missense_Mutation_p.I1781M	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1781	Nonhelical region.|VWFA 8. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GGGACATCATCACTTCCATTG	0.423																																						dbGAP											0													89.0	74.0	79.0					3																	130150403		692	1591	2283	-	-	-	SO:0001583	missense	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.5343C>G	3.37:g.130150403C>G	ENSP00000390895:p.Ile1781Met		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.I1781M	ENST00000432398.2	37	c.5343		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.918|7.918	0.737924|0.737924	0.15574|0.15574	.|.	.|.	ENSG00000172752|ENSG00000172752	ENST00000512836|ENST00000432398;ENST00000265379	.|D;D	.|0.85339	.|-1.97;-1.97	5.64|5.64	3.78|3.78	0.43462|0.43462	.|.	.|.	.|.	.|.	.|.	T|T	0.76492|0.76492	0.3995|0.3995	L|L	0.33485|0.33485	1.01|1.01	0.22531|0.22531	N|N	0.999012|0.999012	.|B	.|0.20550	.|0.046	.|B	.|0.25291	.|0.059	T|T	0.60757|0.60757	-0.7200|-0.7200	5|9	.|0.22706	.|T	.|0.39	.|.	8.0003|8.0003	0.30293|0.30293	0.0:0.7375:0.0:0.2625|0.0:0.7375:0.0:0.2625	.|.	.|1781	.|A8TX70-2	.|.	D|M	33|1781	.|ENSP00000390895:I1781M;ENSP00000265379:I1781M	.|ENSP00000265379:I1781M	H|I	+|+	1|3	0|3	COL6A5|COL6A5	131633093|131633093	0.000000|0.000000	0.05858|0.05858	0.165000|0.165000	0.22776|0.22776	0.712000|0.712000	0.41017|0.41017	0.049000|0.049000	0.14099|0.14099	0.672000|0.672000	0.31204|0.31204	0.561000|0.561000	0.74099|0.74099	CAC|ATC	COL6A5	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000172752		0.423	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		140	0.00	0	C	NM_153264		130150403	130150403	+1	no_errors	ENST00000265379	ensembl	human	known	69_37n	missense	103	10.43	12	SNP	0.907	G
CYP1A1	1543	genome.wustl.edu	37	15	75015349	75015349	+	Silent	SNP	T	T	C			TCGA-AR-A1AO-01A-11D-A12Q-09	TCGA-AR-A1AO-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b841db95-2eff-4181-8d44-3cde2f2f9e70	1569c114-c779-4135-9978-99aa3ac67035	g.chr15:75015349T>C	ENST00000379727.3	-	2	288	c.90A>G	c.(88-90)agA>agG	p.R30R	CYP1A1_ENST00000564596.1_Intron|CYP1A1_ENST00000567032.1_Silent_p.R30R|CYP1A1_ENST00000395049.4_Silent_p.R30R|CYP1A1_ENST00000395048.2_Silent_p.R30R			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	30					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)	GGACCTGAGGTCTTGAGGCCC	0.557									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																													dbGAP											0													42.0	43.0	43.0					15																	75015349		2197	4296	6493	-	-	-	SO:0001819	synonymous_variant	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.90A>G	15.37:g.75015349T>C			A4F3V9|A4F3W0|Q53G18	Silent	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.R30	ENST00000379727.3	37	c.90	CCDS10268.1	15																																																																																			CYP1A1	-	NULL	ENSG00000140465		0.557	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP1A1	HGNC	protein_coding	OTTHUMT00000286396.1	70	0.00	0	T	NM_000499		75015349	75015349	-1	no_errors	ENST00000379727	ensembl	human	known	69_37n	silent	100	15.25	18	SNP	0.000	C
ERP29	10961	genome.wustl.edu	37	12	112460210	112460210	+	Silent	SNP	C	C	G			TCGA-AR-A1AO-01A-11D-A12Q-09	TCGA-AR-A1AO-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b841db95-2eff-4181-8d44-3cde2f2f9e70	1569c114-c779-4135-9978-99aa3ac67035	g.chr12:112460210C>G	ENST00000261735.3	+	3	690	c.540C>G	c.(538-540)ctC>ctG	p.L180L	ERP29_ENST00000455836.1_3'UTR|ERP29_ENST00000546477.1_Silent_p.L79L	NM_006817.3	NP_006808.1	P30040	ERP29_HUMAN	endoplasmic reticulum protein 29	180					intracellular protein transport (GO:0006886)|protein folding (GO:0006457)|protein secretion (GO:0009306)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein disulfide isomerase activity (GO:0003756)			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						GCCAGGCCCTCTTGAAGCAGG	0.582																																						dbGAP											0													43.0	42.0	43.0					12																	112460210		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X94910	CCDS9158.1, CCDS44977.1	12q24.13	2011-10-19	2005-10-05	2005-10-05		ENSG00000089248		"""Protein disulfide isomerases"""	13799	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 9"""	602287	"""chromosome 12 open reading frame 8"""	C12orf8		9738895, 9037184	Standard	NM_006817		Approved	ERp28, ERp31, ERp29, PDI-DB, PDIA9	uc001ttk.1	P30040	OTTHUMG00000169637	ENST00000261735.3:c.540C>G	12.37:g.112460210C>G			C9J183|Q3MJC3|Q6FHT4	Silent	SNP	pfam_ERp29_N,pfam_ER_p29_C,superfamily_ER_p29_C,superfamily_Thioredoxin-like_fold,pirsf_ER_p29	p.L180	ENST00000261735.3	37	c.540	CCDS9158.1	12																																																																																			ERP29	-	pfam_ER_p29_C,superfamily_ER_p29_C,pirsf_ER_p29	ENSG00000089248		0.582	ERP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERP29	HGNC	protein_coding	OTTHUMT00000405200.1	90	0.00	0	C			112460210	112460210	+1	no_errors	ENST00000261735	ensembl	human	known	69_37n	silent	64	11.11	8	SNP	0.886	G
SH2D3A	10045	genome.wustl.edu	37	19	6754155	6754155	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A1AO-01A-11D-A12Q-09	TCGA-AR-A1AO-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b841db95-2eff-4181-8d44-3cde2f2f9e70	1569c114-c779-4135-9978-99aa3ac67035	g.chr19:6754155G>A	ENST00000245908.6	-	8	1561	c.1292C>T	c.(1291-1293)aCg>aTg	p.T431M	SH2D3A_ENST00000599563.1_5'Flank|SH2D3A_ENST00000437152.3_Missense_Mutation_p.T338M|CTD-3128G10.6_ENST00000594056.1_RNA	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	431					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						CTGGCGCCACGTGTGCTCCAA	0.647																																						dbGAP											0													27.0	32.0	31.0					19																	6754155		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"""SH2 domain containing"""	16885	protein-coding gene	gene with protein product		604721	"""SH2 domain-containing 3A"""			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.1292C>T	19.37:g.6754155G>A	ENSP00000245908:p.Thr431Met		A8K9R6|B4DRS7|Q9Y2X4	Missense_Mutation	SNP	pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,prints_SH2	p.T431M	ENST00000245908.6	37	c.1292	CCDS12173.1	19	.	.	.	.	.	.	.	.	.	.	G	16.47	3.131306	0.56828	.	.	ENSG00000125731	ENST00000245908;ENST00000437152	T;T	0.52526	0.66;0.82	4.48	4.48	0.54585	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.43416	D	0.000576	T	0.66925	0.2839	M	0.75085	2.285	0.47214	D	0.999352	D;D	0.89917	0.996;1.0	P;D	0.91635	0.753;0.999	T	0.71148	-0.4677	10	0.72032	D	0.01	-11.285	12.6371	0.56689	0.0:0.0:1.0:0.0	.	338;431	B4DRS7;Q9BRG2	.;SH23A_HUMAN	M	431;338	ENSP00000245908:T431M;ENSP00000393303:T338M	ENSP00000245908:T431M	T	-	2	0	SH2D3A	6705155	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	9.056000	0.93881	2.058000	0.61347	0.313000	0.20887	ACG	SH2D3A	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25	ENSG00000125731		0.647	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH2D3A	HGNC	protein_coding	OTTHUMT00000458016.1	33	0.00	0	G	NM_005490		6754155	6754155	-1	no_errors	ENST00000245908	ensembl	human	known	69_37n	missense	49	10.91	6	SNP	1.000	A
GRIN2D	2906	genome.wustl.edu	37	19	48945508	48945508	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A1AO-01A-11D-A12Q-09	TCGA-AR-A1AO-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b841db95-2eff-4181-8d44-3cde2f2f9e70	1569c114-c779-4135-9978-99aa3ac67035	g.chr19:48945508G>A	ENST00000263269.3	+	12	2630	c.2542G>A	c.(2542-2544)Gtc>Atc	p.V848I		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	848					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CATGGCGGGCGTCTTCTACAT	0.617																																						dbGAP											0													130.0	125.0	127.0					19																	48945508		2203	4300	6503	-	-	-	SO:0001583	missense	0			U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.2542G>A	19.37:g.48945508G>A	ENSP00000263269:p.Val848Ile			Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.V848I	ENST00000263269.3	37	c.2542	CCDS12719.1	19	.	.	.	.	.	.	.	.	.	.	g	31	5.078383	0.94000	.	.	ENSG00000105464	ENST00000263269	T	0.52526	0.66	4.18	4.18	0.49190	Ionotropic glutamate receptor (1);	0.000000	0.64402	D	0.000001	T	0.55862	0.1947	L	0.41573	1.285	0.49798	D	0.999825	D	0.64830	0.994	P	0.59288	0.855	T	0.61277	-0.7095	10	0.87932	D	0	.	15.8442	0.78874	0.0:0.0:1.0:0.0	.	848	O15399	NMDE4_HUMAN	I	848	ENSP00000263269:V848I	ENSP00000263269:V848I	V	+	1	0	GRIN2D	53637320	1.000000	0.71417	0.935000	0.37517	0.947000	0.59692	9.443000	0.97568	2.352000	0.79861	0.450000	0.29827	GTC	GRIN2D	-	pfam_Iontro_glu_rcpt,prints_NMDA_rcpt	ENSG00000105464		0.617	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2D	HGNC	protein_coding	OTTHUMT00000466121.1	116	0.00	0	G			48945508	48945508	+1	no_errors	ENST00000263269	ensembl	human	known	69_37n	missense	124	15.65	23	SNP	1.000	A
SLC24A1	9187	genome.wustl.edu	37	15	65918127	65918127	+	Missense_Mutation	SNP	T	T	G			TCGA-AR-A1AO-01A-11D-A12Q-09	TCGA-AR-A1AO-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	b841db95-2eff-4181-8d44-3cde2f2f9e70	1569c114-c779-4135-9978-99aa3ac67035	g.chr15:65918127T>G	ENST00000261892.6	+	2	1996	c.1709T>G	c.(1708-1710)aTa>aGa	p.I570R	SLC24A1_ENST00000546330.1_Missense_Mutation_p.I570R|SLC24A1_ENST00000339868.6_Missense_Mutation_p.I570R|SLC24A1_ENST00000544319.2_Missense_Mutation_p.I570R|SLC24A1_ENST00000537259.1_Missense_Mutation_p.I570R|SLC24A1_ENST00000399033.4_Missense_Mutation_p.I570R	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	570					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						CTTGACCTGATAATGCTCATC	0.522																																						dbGAP											0													249.0	238.0	241.0					15																	65918127		2133	4266	6399	-	-	-	SO:0001583	missense	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.1709T>G	15.37:g.65918127T>G	ENSP00000261892:p.Ile570Arg		O43485|O75184|Q17RM9	Missense_Mutation	SNP	pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K-dep_Na/Ca-exchanger-like	p.I570R	ENST00000261892.6	37	c.1709	CCDS45284.1	15	.	.	.	.	.	.	.	.	.	.	T	19.49	3.837371	0.71373	.	.	ENSG00000074621	ENST00000537259;ENST00000261892;ENST00000339868;ENST00000544319;ENST00000399033;ENST00000546330	T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	5.92	3.59	0.41128	Sodium/calcium exchanger membrane region (1);	0.547312	0.20663	N	0.087995	T	0.77818	0.4187	M	0.86343	2.81	0.43032	D	0.994601	P;P;P;P;P	0.48016	0.456;0.512;0.512;0.883;0.904	B;B;B;P;P	0.55871	0.142;0.223;0.223;0.681;0.786	T	0.78999	-0.1982	10	0.87932	D	0	.	6.9721	0.24654	0.0:0.2343:0.0:0.7657	.	570;570;570;570;570	O60721-2;Q17RM9;O60721;F5H127;B4E1W0	.;.;NCKX1_HUMAN;.;.	R	570	ENSP00000439693:I570R;ENSP00000261892:I570R;ENSP00000341837:I570R;ENSP00000445163:I570R;ENSP00000381991:I570R;ENSP00000439190:I570R	ENSP00000261892:I570R	I	+	2	0	SLC24A1	63705181	1.000000	0.71417	0.963000	0.40424	0.992000	0.81027	4.036000	0.57304	1.082000	0.41137	0.459000	0.35465	ATA	SLC24A1	-	pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K-dep_Na/Ca-exchanger-like	ENSG00000074621		0.522	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A1	HGNC	protein_coding	OTTHUMT00000397304.1	644	0.00	0	T	NM_004727		65918127	65918127	+1	no_errors	ENST00000261892	ensembl	human	known	69_37n	missense	807	12.47	115	SNP	0.998	G
