#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_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_Chromosome_hg18	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_End_position_hg18	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_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
SLC6A1	6529	genome.wustl.edu	37	3	11067951	11067951	+	Silent	SNP	G	G	A			TCGA-29-2436-01A-01D-1526-09	TCGA-29-2436-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5b531bce-58db-4b12-883c-e3a293e25da9	e0ed463f-4eb7-45b9-a113-425cf744a217	g.chr3:11067951G>A	ENST00000287766.4	+	10	1405	c.984G>A	c.(982-984)tcG>tcA	p.S328S	SLC6A1_ENST00000536032.1_Silent_p.S150S	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	328					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	GCATCAATTCGTGCACCAGCA	0.572																																																0			3											193.0	167.0	176.0					3																	11067951		2203	4300	6503	11042951	SO:0001819	synonymous_variant	6529				CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"""Solute carriers"""	11042	protein-coding gene	gene with protein product	"""GABA transporter 1"""	137165	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 1"""			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.984G>A	3.37:g.11067951G>A			11042951	Q8N4K8	Silent	SNP	HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2	p.S328	ENST00000287766.4	37	c.984	CCDS2603.1	3																																																																																			-	HMMPfam_SNF		0.572	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A1	protein_coding	OTTHUMT00000102767.2	G	NM_003042		11042951	+1	no_errors	NM_003042	genbank	human	validated	54_36p	silent	SNP	0.540	A
GAD2	2572	genome.wustl.edu	37	10	26508165	26508165	+	Silent	SNP	G	G	A			TCGA-29-2436-01A-01D-1526-09	TCGA-29-2436-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5b531bce-58db-4b12-883c-e3a293e25da9	e0ed463f-4eb7-45b9-a113-425cf744a217	g.chr10:26508165G>A	ENST00000376261.3	+	4	983	c.480G>A	c.(478-480)ttG>ttA	p.L160L	GAD2_ENST00000376248.1_Silent_p.L46L|GAD2_ENST00000259271.3_Silent_p.L160L	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	160					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AGGAAATTTTGATGCATTGCC	0.294																																																0			10											70.0	76.0	74.0					10																	26508165		2203	4300	6503	26548171	SO:0001819	synonymous_variant	2572			AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.480G>A	10.37:g.26508165G>A			26548171	Q9UD87	Silent	SNP	superfamily_PLP-dependent transferases,HMMPfam_Pyridoxal_deC,PatternScan_DDC_GAD_HDC_YDC	p.L160	ENST00000376261.3	37	c.480	CCDS7149.1	10																																																																																			-	superfamily_PLP-dependent transferases,HMMPfam_Pyridoxal_deC		0.294	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	GAD2	protein_coding	OTTHUMT00000047255.1	G	NM_000818		26548171	+1	no_errors	NM_000818	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
PHF8	23133	genome.wustl.edu	37	X	53966650	53966650	+	Silent	SNP	G	G	A			TCGA-29-2436-01A-01D-1526-09	TCGA-29-2436-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5b531bce-58db-4b12-883c-e3a293e25da9	e0ed463f-4eb7-45b9-a113-425cf744a217	g.chrX:53966650G>A	ENST00000357988.5	-	21	3415	c.3057C>T	c.(3055-3057)cgC>cgT	p.R1019R	PHF8_ENST00000338946.6_Silent_p.R882R|PHF8_ENST00000338154.6_Silent_p.R983R	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	1019					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						CAACTGAAGGGCGCCGCTGGG	0.572																																																0			X											25.0	23.0	24.0					X																	53966650		2199	4295	6494	53983375	SO:0001819	synonymous_variant	23133			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.3057C>T	X.37:g.53966650G>A			53983375	B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Silent	SNP	superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_EGF_2,PatternScan_ZF_PHD_1,superfamily_Clavaminate synthase-like,HMMSmart_SM00558,HMMPfam_JmjC	p.R983	ENST00000357988.5	37	c.2949	CCDS55420.1	X	.	.	.	.	.	.	.	.	.	.	G	9.903	1.207370	0.22205	.	.	ENSG00000172943	ENST00000396282	.	.	.	5.22	1.17	0.20885	.	.	.	.	.	T	0.44393	0.1291	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24333	-1.0163	4	.	.	.	-6.5254	3.3675	0.07208	0.1686:0.2165:0.4966:0.1182	.	.	.	.	V	887	.	.	A	-	2	0	PHF8	53983375	0.990000	0.36364	1.000000	0.80357	0.986000	0.74619	0.046000	0.14035	0.412000	0.25729	0.509000	0.49947	GCC	-	NULL		0.572	PHF8-001	KNOWN	basic|CCDS	protein_coding	PHF8	protein_coding	OTTHUMT00000056784.2	G	NM_015107		53983375	-1	no_errors	NM_015107	genbank	human	validated	54_36p	silent	SNP	1.000	A
CDH26	60437	genome.wustl.edu	37	20	58570919	58570919	+	Silent	SNP	C	C	T			TCGA-29-2436-01A-01D-1526-09	TCGA-29-2436-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5b531bce-58db-4b12-883c-e3a293e25da9	e0ed463f-4eb7-45b9-a113-425cf744a217	g.chr20:58570919C>T	ENST00000244047.5	+	12	2009	c.1698C>T	c.(1696-1698)agC>agT	p.S566S	CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000350849.6_5'Flank|CDH26_ENST00000244049.3_5'Flank|CDH26_ENST00000348616.4_Silent_p.S566S			Q8IXH8	CAD26_HUMAN	cadherin 26	566					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CCTTGAGAAGCCTGCCACGTG	0.473																																																0			20											96.0	92.0	94.0					20																	58570919		2203	4300	6503	58004314	SO:0001819	synonymous_variant	60437			AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.1698C>T	20.37:g.58570919C>T			58004314	A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Silent	SNP	superfamily_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin	p.S566	ENST00000244047.5	37	c.1698		20	.	.	.	.	.	.	.	.	.	.	C	0.569	-0.842123	0.02671	.	.	ENSG00000124215	ENST00000370991	.	.	.	4.56	2.57	0.30868	.	.	.	.	.	T	0.54351	0.1853	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48906	-0.8993	4	.	.	.	.	6.2306	0.20732	0.1533:0.6663:0.0:0.1804	.	.	.	.	V	158	.	.	A	+	2	0	CDH26	58004314	0.330000	0.24705	0.268000	0.24571	0.029000	0.11900	-0.005000	0.12855	1.039000	0.40074	0.655000	0.94253	GCC	-	superfamily_Cadherin,HMMPfam_Cadherin		0.473	CDH26-201	KNOWN	basic	protein_coding	CDH26	protein_coding		C	NM_177980		58004314	+1	no_errors	NM_177980	genbank	human	reviewed	54_36p	silent	SNP	0.314	T
BIRC8	112401	genome.wustl.edu	37	19	53793623	53793623	+	Missense_Mutation	SNP	G	G	A			TCGA-29-2436-01A-01D-1526-09	TCGA-29-2436-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5b531bce-58db-4b12-883c-e3a293e25da9	e0ed463f-4eb7-45b9-a113-425cf744a217	g.chr19:53793623G>A	ENST00000426466.1	-	1	1252	c.5C>T	c.(4-6)aCg>aTg	p.T2M		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	2					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		TTCATAACCCGTCATGGATGG	0.423																																																0			19											42.0	47.0	45.0					19																	53793623		2199	4299	6498	58485435	SO:0001583	missense	112401			AF164682	CCDS12863.1	19q13.3-q13.4	2011-01-25	2011-01-25			ENSG00000163098		"""Baculoviral IAP repeat containing"""	14878	protein-coding gene	gene with protein product	"""IAP-like protein 2"", ""inhibitor of apoptosis-like protein 2"""		"""baculoviral IAP repeat-containing 8"""			11390657	Standard	NM_033341		Approved	ILP-2, hILP2	uc002qbk.3	Q96P09		ENST00000426466.1:c.5C>T	19.37:g.53793623G>A	ENSP00000412957:p.Thr2Met		58485435	Q6IPY1|Q96RW5	Missense_Mutation	SNP	superfamily_Inhibitor of apoptosis (IAP) repeat,HMMSmart_SM00238,PatternScan_BIR_REPEAT_1,HMMPfam_BIR,HMMSmart_SM00184	p.T2M	ENST00000426466.1	37	c.5	CCDS12863.1	19	.	.	.	.	.	.	.	.	.	.	G	5.919	0.353578	0.11182	.	.	ENSG00000163098	ENST00000426466	T	0.03951	3.75	0.502	0.502	0.16932	Baculoviral inhibition of apoptosis protein repeat (2);	.	.	.	.	T	0.03136	0.0092	L	0.38175	1.15	0.09310	N	1	P	0.34892	0.474	B	0.16722	0.016	T	0.41858	-0.9485	9	0.54805	T	0.06	-19.3377	3.6066	0.08045	0.0:1.0E-4:0.5617:0.4382	.	2	Q96P09	BIRC8_HUMAN	M	2	ENSP00000412957:T2M	ENSP00000412957:T2M	T	-	2	0	BIRC8	58485435	0.975000	0.34042	0.002000	0.10522	0.004000	0.04260	0.844000	0.27654	0.578000	0.29487	0.420000	0.28162	ACG	-	superfamily_Inhibitor of apoptosis (IAP) repeat,HMMSmart_SM00238		0.423	BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC8	protein_coding	OTTHUMT00000464357.1	G	NM_033341		58485435	-1	no_errors	NM_033341	genbank	human	validated	54_36p	missense	SNP	0.435	A
PLEKHG3	26030	genome.wustl.edu	37	14	65209165	65209165	+	Missense_Mutation	SNP	G	G	A			TCGA-29-2436-01A-01D-1526-09	TCGA-29-2436-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5b531bce-58db-4b12-883c-e3a293e25da9	e0ed463f-4eb7-45b9-a113-425cf744a217	g.chr14:65209165G>A	ENST00000394691.1	+	16	3077	c.2930G>A	c.(2929-2931)gGt>gAt	p.G977D	PLEKHG3_ENST00000484731.2_Missense_Mutation_p.G482D|PLEKHG3_ENST00000247226.7_Missense_Mutation_p.G921D|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.G510D|PLEKHG3_ENST00000492928.1_Intron			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	977							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GAGCCATTAGGTGGCAAAGGT	0.582																																																0			14											17.0	18.0	18.0					14																	65209165		2188	4280	6468	64278918	SO:0001583	missense	26030			AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.2930G>A	14.37:g.65209165G>A	ENSP00000378183:p.Gly977Asp		64278918	A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	superfamily_DH-domain,HMMPfam_RhoGEF,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH	p.G921D	ENST00000394691.1	37	c.2762		14	.	.	.	.	.	.	.	.	.	.	G	16.88	3.246023	0.59103	.	.	ENSG00000126822	ENST00000247226;ENST00000394691;ENST00000471182;ENST00000484731	T;T;T;T	0.60171	0.66;0.21;1.55;1.55	5.43	2.45	0.29901	.	0.624658	0.14887	N	0.292610	T	0.61899	0.2384	M	0.63428	1.95	0.09310	N	1	D;D;P;D	0.71674	0.998;0.998;0.945;0.982	D;D;B;P	0.65874	0.939;0.939;0.439;0.642	T	0.52704	-0.8540	10	0.12766	T	0.61	.	3.2594	0.06844	0.095:0.1708:0.5577:0.1765	.	510;482;977;921	A1L390-2;G3V311;A1L390;A1L390-3	.;.;PKHG3_HUMAN;.	D	921;977;510;482	ENSP00000247226:G921D;ENSP00000378183:G977D;ENSP00000450945:G510D;ENSP00000450973:G482D	ENSP00000247226:G921D	G	+	2	0	PLEKHG3	64278918	0.001000	0.12720	0.004000	0.12327	0.101000	0.19017	0.936000	0.28938	1.424000	0.47217	0.655000	0.94253	GGT	-	NULL		0.582	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	PLEKHG3	protein_coding	OTTHUMT00000412028.1	G	NM_015549		64278918	+1	no_errors	NM_015549	genbank	human	validated	54_36p	missense	SNP	0.001	A
Unknown	0	genome.wustl.edu	37	4	69492630	69492630	+	IGR	SNP	G	G	A	rs386675592|rs2331417	byFrequency	TCGA-29-2436-01A-01D-1526-09	TCGA-29-2436-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5b531bce-58db-4b12-883c-e3a293e25da9	e0ed463f-4eb7-45b9-a113-425cf744a217	g.chr4:69492630G>A								UGT2B17 (58385 upstream) : UGT2B15 (19717 downstream)																							AAGGGTGGGTGAAGAAATTCA	0.368													G|||	831	0.165935	0.2035	0.1182	5008	,	,		15296	0.0625		0.2227	False		,,,				2504	0.1973															0			4																																								69175225	SO:0001628	intergenic_variant	728807																															4.37:g.69492630G>A			69175225		RNA	SNP	-	NULL		37	NULL		4																																																																																			-	-	0	0.368					LOC728807			G			69175225	-1	pseudogene	XR_042341	genbank	human	model	54_36p	rna	SNP	0.996	A
ISLR2	57611	genome.wustl.edu	37	15	74392699	74392699	+	3'UTR	SNP	C	C	T	rs562131074		TCGA-29-2436-01A-01D-1526-09	TCGA-29-2436-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5b531bce-58db-4b12-883c-e3a293e25da9	e0ed463f-4eb7-45b9-a113-425cf744a217	g.chr15:74392699C>T	ENST00000561975.1	+	0	48							Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2						positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CTGGAGGTGCCGGGGGCGAAA	0.637													.|||	1	0.000199681	0.0	0.0014	5008	,	,		12078	0.0		0.0	False		,,,				2504	0.0															0			15																																								72179752	SO:0001624	3_prime_UTR_variant	440287				CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000561975.1:c.*45C>T	15.37:g.74392699C>T			72179752	A8K352|Q9P263	Missense_Mutation	SNP	HMMPfam_HCaRG	p.G150S	ENST00000561975.1	37	c.448		15																																																																																			-	NULL		0.637	ISLR2-008	KNOWN	basic	processed_transcript	LOC440287	protein_coding	OTTHUMT00000421941.1	C	NM_020851		72179752	-1	no_errors	XM_496074	genbank	human	model	54_36p	missense	SNP	0.000	T
KAT6B	23522	genome.wustl.edu	37	10	76789545	76789545	+	Missense_Mutation	SNP	G	G	C			TCGA-29-2436-01A-01D-1526-09	TCGA-29-2436-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5b531bce-58db-4b12-883c-e3a293e25da9	e0ed463f-4eb7-45b9-a113-425cf744a217	g.chr10:76789545G>C	ENST00000287239.4	+	18	5452	c.4963G>C	c.(4963-4965)Gtt>Ctt	p.V1655L	KAT6B_ENST00000372711.1_Missense_Mutation_p.V1472L|KAT6B_ENST00000372724.1_Missense_Mutation_p.V1363L|KAT6B_ENST00000372714.1_Missense_Mutation_p.V1363L|KAT6B_ENST00000372725.1_Missense_Mutation_p.V1363L	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1655	Interaction with RUNX1 and RUNX2.|Ser-rich.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TGTCCCATCAGTTTCAGATCA	0.483																																																0			10											143.0	122.0	129.0					10																	76789545		2203	4300	6503	76459551	SO:0001583	missense	23522			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.4963G>C	10.37:g.76789545G>C	ENSP00000287239:p.Val1655Leu		76459551	O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	"HMMSmart_SM00526,superfamily_""Winged helix"" DNA-binding domain,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_Acyl-CoA N-acyltransferases (Nat),HMMPfam_MOZ_SAS"	p.V1655L	ENST00000287239.4	37	c.4963	CCDS7345.1	10	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855377	0.51376	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	D;D;D;D;D	0.85702	-1.96;-1.96;-2.02;-1.96;-2.01	5.17	5.17	0.71159	.	0.000000	0.45126	D	0.000397	D	0.88987	0.6587	L	0.32530	0.975	0.58432	D	0.999999	D;D;D	0.67145	0.959;0.99;0.996	D;D;D	0.77004	0.949;0.986;0.989	D	0.90443	0.4433	10	0.87932	D	0	-7.6818	18.656	0.91453	0.0:0.0:1.0:0.0	.	1472;1363;1655	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	L	1363;1363;1655;1363;1472	ENSP00000361810:V1363L;ENSP00000361809:V1363L;ENSP00000287239:V1655L;ENSP00000361799:V1363L;ENSP00000361796:V1472L	ENSP00000287239:V1655L	V	+	1	0	KAT6B	76459551	1.000000	0.71417	0.898000	0.35279	0.977000	0.68977	9.476000	0.97823	2.399000	0.81585	0.563000	0.77884	GTT	-	NULL		0.483	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYST4	protein_coding	OTTHUMT00000048771.1	G	NM_012330		76459551	+1	no_errors	NM_012330	genbank	human	validated	54_36p	missense	SNP	0.998	C
SORCS3	22986	genome.wustl.edu	37	10	106865197	106865197	+	Missense_Mutation	SNP	C	C	T			TCGA-29-2436-01A-01D-1526-09	TCGA-29-2436-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5b531bce-58db-4b12-883c-e3a293e25da9	e0ed463f-4eb7-45b9-a113-425cf744a217	g.chr10:106865197C>T	ENST00000369701.3	+	7	1363	c.1136C>T	c.(1135-1137)aCa>aTa	p.T379I		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	379					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TGTGCCGAGACAACTAGAAGT	0.483																																					NSCLC(116;1497 1690 7108 13108 14106)											0			10											161.0	129.0	140.0					10																	106865197		2203	4300	6503	106855187	SO:0001583	missense	22986			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1136C>T	10.37:g.106865197C>T	ENSP00000358715:p.Thr379Ile		106855187	Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	superfamily_SSF110296,HMMSmart_VPS10,HMMPfam_PKD,superfamily_PKD	p.T379I	ENST00000369701.3	37	c.1136	CCDS7558.1	10	.	.	.	.	.	.	.	.	.	.	C	13.54	2.266434	0.40095	.	.	ENSG00000156395	ENST00000369701	T	0.32272	1.46	5.43	5.43	0.79202	VPS10 (1);	0.176081	0.51477	D	0.000088	T	0.28928	0.0718	L	0.29908	0.895	0.37169	D	0.902973	P	0.42827	0.791	P	0.44422	0.449	T	0.14172	-1.0482	10	0.39692	T	0.17	.	14.727	0.69351	0.0:1.0:0.0:0.0	.	379	Q9UPU3	SORC3_HUMAN	I	379	ENSP00000358715:T379I	ENSP00000358715:T379I	T	+	2	0	SORCS3	106855187	0.999000	0.42202	0.986000	0.45419	0.278000	0.26855	4.578000	0.60929	2.536000	0.85505	0.462000	0.41574	ACA	-	superfamily_SSF110296,HMMSmart_VPS10		0.483	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS3	protein_coding	OTTHUMT00000050221.1	C	NM_014978		106855187	+1	no_errors	NM_014978	genbank	human	reviewed	54_36p	missense	SNP	0.992	T
RGPD8	727851	genome.wustl.edu	37	2	113147719	113147719	+	Missense_Mutation	SNP	T	T	G			TCGA-29-2436-01A-01D-1526-09	TCGA-29-2436-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	5b531bce-58db-4b12-883c-e3a293e25da9	e0ed463f-4eb7-45b9-a113-425cf744a217	g.chr2:113147719T>G	ENST00000302558.3	-	20	2994	c.2803A>C	c.(2803-2805)Aaa>Caa	p.K935Q	RGPD8_ENST00000409750.1_Missense_Mutation_p.K795Q	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	935					protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)			endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						TTTTCCCTTTTCTTTTCTTGA	0.418																																																0			2											70.0	54.0	59.0					2																	113147719		692	1589	2281	112864190	SO:0001583	missense	727851			AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.2803A>C	2.37:g.113147719T>G	ENSP00000306637:p.Lys935Gln		112864190	Q5CZA8	Missense_Mutation	SNP	superfamily_TPR-like,HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_PH domain-like,HMMSmart_SM00160,HMMPfam_Ran_BP1,HMMPfam_GRIP,HMMSmart_SM00755	p.K935Q	ENST00000302558.3	37	c.2803	CCDS46394.1	2	.	.	.	.	.	.	.	.	.	.	-	0.395	-0.921594	0.02396	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.41758	0.99;0.99	1.89	0.485	0.16830	.	.	.	.	.	T	0.27798	0.0684	L	0.60455	1.87	0.48696	D	0.999696	P	0.44006	0.824	B	0.35353	0.201	T	0.13442	-1.0509	9	0.18710	T	0.47	-1.0096	4.3926	0.11348	0.0:0.3637:0.0:0.6363	.	935	O14715	RGPD8_HUMAN	Q	935;795	ENSP00000306637:K935Q;ENSP00000386511:K795Q	ENSP00000306637:K935Q	K	-	1	0	RGPD8	112864190	0.028000	0.19301	0.295000	0.24960	0.059000	0.15707	2.061000	0.41403	0.019000	0.15079	-1.522000	0.00932	AAA	-	NULL		0.418	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RGPD8	protein_coding	OTTHUMT00000375951.1	T	XM_001722279		112864190	-1	no_errors	XM_001722279	genbank	human	model	54_36p	missense	SNP	0.035	G
