#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
EPB41L3	23136	genome.wustl.edu	37	18	5489039	5489039	+	Silent	SNP	G	G	A	rs374406358		TCGA-36-2540-01A-01D-1526-09	TCGA-36-2540-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13757e2d-5237-4e3a-9608-a6faa584fd37	26315c8f-80bb-41cd-a7da-9ff24a7fb6eb	g.chr18:5489039G>A	ENST00000341928.2	-	2	484	c.144C>T	c.(142-144)ttC>ttT	p.F48F	EPB41L3_ENST00000540638.2_Silent_p.F48F|EPB41L3_ENST00000544123.1_Silent_p.F48F|EPB41L3_ENST00000400111.3_Silent_p.F48F|EPB41L3_ENST00000342933.3_Silent_p.F48F	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	48					apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CAGCGGCGGCGAACTGCTCCA	0.721																																																0			18											18.0	20.0	20.0					18																	5489039		2198	4282	6480	5479039	SO:0001819	synonymous_variant	23136			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.144C>T	18.37:g.5489039G>A			5479039	B7Z4I5|F5GX05|O95713|Q9BRP5	Silent	SNP	HMMSmart_SM00295,superfamily_Ubiquitin-like,HMMPfam_FERM_N,PatternScan_FERM_1,superfamily_Second domain of FERM,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_PH domain-like,HMMPfam_FERM_C,HMMPfam_FA,HMMPfam_SAB,HMMPfam_4_1_CTD	p.F48	ENST00000341928.2	37	c.144	CCDS11838.1	18																																																																																			-	NULL		0.721	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L3	protein_coding	OTTHUMT00000254424.1	G	NM_012307		5479039	-1	no_errors	NM_012307	genbank	human	provisional	54_36p	silent	SNP	0.298	A
ZNF558	148156	genome.wustl.edu	37	19	8921997	8921997	+	Missense_Mutation	SNP	T	T	C			TCGA-36-2540-01A-01D-1526-09	TCGA-36-2540-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13757e2d-5237-4e3a-9608-a6faa584fd37	26315c8f-80bb-41cd-a7da-9ff24a7fb6eb	g.chr19:8921997T>C	ENST00000601372.1	-	10	1880	c.1169A>G	c.(1168-1170)tAt>tGt	p.Y390C	ZNF558_ENST00000301475.1_Missense_Mutation_p.Y390C|ZNF558_ENST00000444186.2_Missense_Mutation_p.Y319C			Q96NG5	ZN558_HUMAN	zinc finger protein 558	390					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						CACAGAAAGATAGGAGTTACT	0.363																																																0			19											87.0	89.0	88.0					19																	8921997		2203	4300	6503	8782997	SO:0001583	missense	148156			AK055494	CCDS12208.1	19p13.2	2013-09-20			ENSG00000167785	ENSG00000167785		"""Zinc fingers, C2H2-type"", ""-"""	26422	protein-coding gene	gene with protein product							Standard	NM_144693		Approved	FLJ30932	uc002mkn.1	Q96NG5	OTTHUMG00000182196	ENST00000601372.1:c.1169A>G	19.37:g.8921997T>C	ENSP00000471277:p.Tyr390Cys		8782997	A8K5F0|B7Z798	Missense_Mutation	SNP	superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.Y390C	ENST00000601372.1	37	c.1169	CCDS12208.1	19	.	.	.	.	.	.	.	.	.	.	T	12.54	1.969726	0.34754	.	.	ENSG00000167785	ENST00000301475;ENST00000444186	T;T	0.07444	3.19;3.19	5.02	2.78	0.32641	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37761	N	0.001941	T	0.10723	0.0262	L	0.33792	1.035	0.09310	N	0.999999	D	0.64830	0.994	P	0.54460	0.753	T	0.08229	-1.0732	10	0.48119	T	0.1	.	6.7751	0.23615	0.1498:0.0:0.1559:0.6943	.	390	Q96NG5	ZN558_HUMAN	C	390;319	ENSP00000301475:Y390C;ENSP00000410703:Y319C	ENSP00000301475:Y390C	Y	-	2	0	ZNF558	8782997	0.000000	0.05858	0.991000	0.47740	0.663000	0.39108	-0.616000	0.05591	0.906000	0.36621	0.383000	0.25322	TAT	-	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1		0.363	ZNF558-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF558	protein_coding	OTTHUMT00000459955.2	T	NM_144693		8782997	-1	no_errors	NM_144693	genbank	human	provisional	54_36p	missense	SNP	0.055	C
TLR8	51311	genome.wustl.edu	37	X	12937755	12937755	+	Missense_Mutation	SNP	C	C	T			TCGA-36-2540-01A-01D-1526-09	TCGA-36-2540-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13757e2d-5237-4e3a-9608-a6faa584fd37	26315c8f-80bb-41cd-a7da-9ff24a7fb6eb	g.chrX:12937755C>T	ENST00000218032.6	+	2	683	c.596C>T	c.(595-597)aCg>aTg	p.T199M	TLR8_ENST00000311912.5_Missense_Mutation_p.T217M	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	199					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.T217L(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	GTATTTGAAACGCTGACAAAT	0.378																																																1	Substitution - Missense(1)	skin(1)	X											67.0	72.0	71.0					X																	12937755		2203	4299	6502	12847676	SO:0001583	missense	51311			AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.596C>T	X.37:g.12937755C>T	ENSP00000218032:p.Thr199Met		12847676	B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	superfamily_SSF52058,HMMPfam_LRR_1,superfamily_SSF52047,HMMSmart_LRR_TYP,HMMSmart_LRRCT,superfamily_TIR,HMMPfam_TIR	p.T199M	ENST00000218032.6	37	c.596	CCDS14152.1	X	.	.	.	.	.	.	.	.	.	.	C	5.509	0.278795	0.10458	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.00976	5.48;5.48	4.93	-3.9	0.04181	.	3.218570	0.01781	N	0.031761	T	0.00936	0.0031	N	0.25144	0.715	0.09310	N	1	D;D	0.55605	0.972;0.972	B;B	0.41412	0.356;0.356	T	0.48375	-0.9041	10	0.62326	D	0.03	.	7.4995	0.27509	0.2882:0.4745:0.2373:0.0	.	199;217	Q9NR97;D1CS70	TLR8_HUMAN;.	M	199;217	ENSP00000218032:T199M;ENSP00000312082:T217M	ENSP00000218032:T199M	T	+	2	0	TLR8	12847676	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.979000	0.03774	-0.600000	0.05790	-0.450000	0.05554	ACG	-	superfamily_SSF52047		0.378	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR8	protein_coding	OTTHUMT00000055784.2	C	NM_016610		12847676	+1	no_errors	NM_138636	genbank	human	reviewed	54_36p	missense	SNP	0.000	T
SLC17A8	246213	genome.wustl.edu	37	12	100806547	100806547	+	Splice_Site	SNP	G	G	A			TCGA-36-2540-01A-01D-1526-09	TCGA-36-2540-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13757e2d-5237-4e3a-9608-a6faa584fd37	26315c8f-80bb-41cd-a7da-9ff24a7fb6eb	g.chr12:100806547G>A	ENST00000323346.5	+	10	1499		c.e10-1		SLC17A8_ENST00000552697.1_Splice_Site|SLC17A8_ENST00000392989.3_Splice_Site	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8						ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TCCATTTGCAGGTTTTGGCAT	0.413																																																0			12											199.0	176.0	184.0					12																	100806547		2203	4300	6503	99330678	SO:0001630	splice_region_variant	246213			AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.1187-1G>A	12.37:g.100806547G>A			99330678	B3KXZ6|B7ZKV4|Q17RQ8	Splice_Site	SNP	-	e10-1	ENST00000323346.5	37	c.1187-1	CCDS9077.1	12	.	.	.	.	.	.	.	.	.	.	G	25.8	4.670623	0.88348	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC17A8	99330678	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.835000	0.99442	2.861000	0.98227	0.655000	0.94253	.	-	-		0.413	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A8	protein_coding	OTTHUMT00000408673.2	G	NM_139319	Intron	99330678	+1	no_errors	NM_139319	genbank	human	validated	54_36p	splice_site	SNP	1.000	A
LRWD1	222229	genome.wustl.edu	37	7	102113192	102113192	+	Missense_Mutation	SNP	G	G	A			TCGA-36-2540-01A-01D-1526-09	TCGA-36-2540-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13757e2d-5237-4e3a-9608-a6faa584fd37	26315c8f-80bb-41cd-a7da-9ff24a7fb6eb	g.chr7:102113192G>A	ENST00000292616.5	+	14	1896	c.1744G>A	c.(1744-1746)Gtc>Atc	p.V582I	MIR4467_ENST00000578629.1_RNA	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	582					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						GCTCTACGACGTCAGCAACAT	0.657																																																0			7											39.0	39.0	39.0					7																	102113192		2203	4300	6503	101900197	SO:0001583	missense	222229			AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"""WD repeat domain containing"""	21769	protein-coding gene	gene with protein product	"""origin recognition complex associated"", ""centromere protein 33"""	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.1744G>A	7.37:g.102113192G>A	ENSP00000292616:p.Val582Ile		101900197	A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Missense_Mutation	SNP	superfamily_SSF52058,HMMSmart_LRR_TYP,HMMPfam_LRR_1,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1	p.V582I	ENST00000292616.5	37	c.1744	CCDS34715.1	7	.	.	.	.	.	.	.	.	.	.	G	9.945	1.218647	0.22373	.	.	ENSG00000161036	ENST00000292616	T	0.70045	-0.45	4.84	2.07	0.26955	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.690826	0.15251	N	0.272334	T	0.46054	0.1373	N	0.22421	0.69	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.24368	-1.0162	10	0.30854	T	0.27	-15.8516	4.7181	0.12904	0.2695:0.1724:0.5581:0.0	.	582	Q9UFC0	LRWD1_HUMAN	I	582	ENSP00000292616:V582I	ENSP00000292616:V582I	V	+	1	0	LRWD1	101900197	0.006000	0.16342	0.005000	0.12908	0.206000	0.24218	0.194000	0.17135	0.350000	0.24002	0.555000	0.69702	GTC	-	superfamily_WD40_like		0.657	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRWD1	protein_coding	OTTHUMT00000349493.1	G	NM_152892		101900197	+1	no_errors	NM_152892	genbank	human	provisional	54_36p	missense	SNP	0.008	A
SPAM1	6677	genome.wustl.edu	37	7	123594015	123594015	+	Missense_Mutation	SNP	A	A	G			TCGA-36-2540-01A-01D-1526-09	TCGA-36-2540-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13757e2d-5237-4e3a-9608-a6faa584fd37	26315c8f-80bb-41cd-a7da-9ff24a7fb6eb	g.chr7:123594015A>G	ENST00000439500.1	+	4	1004	c.391A>G	c.(391-393)Att>Gtt	p.I131V	SPAM1_ENST00000223028.7_Missense_Mutation_p.I131V|SPAM1_ENST00000340011.5_Missense_Mutation_p.I131V|SPAM1_ENST00000460182.1_Missense_Mutation_p.I131V|SPAM1_ENST00000402183.2_Missense_Mutation_p.I131V	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	131					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TAAGAAAGACATTACATTTTA	0.398																																																0			7											89.0	90.0	90.0					7																	123594015		2203	4300	6503	123381251	SO:0001583	missense	6677			L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.391A>G	7.37:g.123594015A>G	ENSP00000402123:p.Ile131Val		123381251	Q8TC30	Missense_Mutation	SNP	HMMPfam_Glyco_hydro_56,superfamily_Glyco_hydro_cat	p.I131V	ENST00000439500.1	37	c.391	CCDS5791.1	7	.	.	.	.	.	.	.	.	.	.	A	15.67	2.900853	0.52227	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3	6.03	6.03	0.97812	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.052878	0.64402	D	0.000001	T	0.55497	0.1924	M	0.69248	2.105	0.43512	D	0.995777	P;P	0.45827	0.867;0.867	P;P	0.58577	0.841;0.841	T	0.52290	-0.8595	9	.	.	.	-63.8192	15.7467	0.77949	1.0:0.0:0.0:0.0	.	131;131	Q8TC30;P38567	.;HYALP_HUMAN	V	131	ENSP00000386028:I131V;ENSP00000417934:I131V;ENSP00000345849:I131V;ENSP00000402123:I131V;ENSP00000223028:I131V	.	I	+	1	0	SPAM1	123381251	1.000000	0.71417	0.792000	0.32020	0.019000	0.09904	5.151000	0.64875	2.302000	0.77476	0.533000	0.62120	ATT	-	HMMPfam_Glyco_hydro_56,superfamily_Glyco_hydro_cat		0.398	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPAM1	protein_coding	OTTHUMT00000348309.1	A			123381251	+1	no_errors	NM_003117	genbank	human	reviewed	54_36p	missense	SNP	0.898	G
DERL1	79139	genome.wustl.edu	37	8	124027738	124027738	+	Silent	SNP	G	G	A			TCGA-36-2540-01A-01D-1526-09	TCGA-36-2540-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13757e2d-5237-4e3a-9608-a6faa584fd37	26315c8f-80bb-41cd-a7da-9ff24a7fb6eb	g.chr8:124027738G>A	ENST00000259512.4	-	8	1005	c.705C>T	c.(703-705)ggC>ggT	p.G235G	RP11-557C18.3_ENST00000521258.1_RNA|DERL1_ENST00000419562.2_Silent_p.G135G|DERL1_ENST00000405944.3_Silent_p.G215G|DERL1_ENST00000519018.1_Silent_p.G135G|DERL1_ENST00000523036.1_Silent_p.G135G	NM_001134671.2|NM_024295.5	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	235					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|intracellular transport of viral protein in host cell (GO:0019060)|response to unfolded protein (GO:0006986)|retrograde protein transport, ER to cytosol (GO:0030970)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)	MHC class I protein binding (GO:0042288)|receptor activity (GO:0004872)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TCCCGCCTCCGCCATTCTGAT	0.617																																																0			8											76.0	67.0	70.0					8																	124027738		2203	4300	6503	124096919	SO:0001819	synonymous_variant	79139			BC002457	CCDS6337.1, CCDS47915.1	8q24.13	2012-02-01	2012-02-01		ENSG00000136986	ENSG00000136986			28454	protein-coding gene	gene with protein product		608813	"""Der1-like domain family, member 1"""			12975309, 15215855	Standard	NM_024295		Approved	MGC3067, PRO2577, FLJ13784, DER1, DER-1, derlin-1	uc003ypl.3	Q9BUN8	OTTHUMG00000165080	ENST00000259512.4:c.705C>T	8.37:g.124027738G>A			124096919	B3KW41|E9PH19	Silent	SNP	HMMPfam_DER1	p.G235	ENST00000259512.4	37	c.705	CCDS6337.1	8																																																																																			-	NULL		0.617	DERL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DERL1	protein_coding	OTTHUMT00000381714.2	G	NM_024295		124096919	-1	no_errors	NM_024295	genbank	human	validated	54_36p	silent	SNP	0.834	A
ANKRD30BL	554226	genome.wustl.edu	37	2	133014640	133014640	+	Intron	SNP	C	C	T	rs78867621	byFrequency	TCGA-36-2540-01A-01D-1526-09	TCGA-36-2540-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	13757e2d-5237-4e3a-9608-a6faa584fd37	26315c8f-80bb-41cd-a7da-9ff24a7fb6eb	g.chr2:133014640C>T	ENST00000470729.1	-	1	441				MIR663B_ENST00000408361.1_RNA	NR_027020.2		A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like											endometrium(1)|kidney(3)	4						GGATGCCGGACGGCCCTCGGC	0.687																																																0			2											21.0	38.0	33.0					2																	133014640		1547	3577	5124	132731110	SO:0001627	intron_variant	0					2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000470729.1:c.984+461G>A	2.37:g.133014640C>T			132731110	B8ZZL7	RNA	SNP	-	NULL	ENST00000470729.1	37	NULL		2																																																																																			-	-		0.687	ANKRD30BL-002	KNOWN	basic	processed_transcript	MIRN663B	protein_coding	OTTHUMT00000331354.1	C	NR_027019		132731110	-1	no_errors	ENST00000408361	ensembl	human	known	54_36p	rna	SNP	0.016	T
