#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_CAF	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_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_normal_ref_reads	i_normal_ref_reads_val	i_normal_vaf	i_normal_vaf_val	i_normal_var_reads	i_normal_var_reads_val	i_reference	i_refseq_mrna_id	i_rsID	i_rsID_ref_var_alleles	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_tumor_ref_reads	i_tumor_ref_reads_val	i_tumor_vaf	i_tumor_vaf_val	i_tumor_var_reads	i_tumor_var_reads_val	i_type	i_ucsc_cons	i_variant
MT-ND2	4536	genome.wustl.edu	37	M	2778	2778	+	5'Flank	SNP	T	T	C			TCGA-XM-AAZ1-01A-11D-A423-09	TCGA-XM-AAZ1-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6d3d8395-059b-4af7-a1cc-7b79c3030a56	439f8e89-3586-4a4f-bb80-f161de88804b	g.chrM:2778T>C	ENST00000361453.3	+	0	0				MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TV_ENST00000387342.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TM_ENST00000387377.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						CAAACCCACAGGTCCTAAACT	0.473																																							0											0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2778T>C	Exception_encountered		Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	0	NULL	ENST00000361453.3	37	NULL		MT																																																																																			0	0		0.473	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	MT-RNR2	protein_coding		350	0	0.28	0.00	1	0	T	YP_003024027	0	0		2778	1	no_errors	ENST00000387347	ensembl	human	known	74_37	rna	124	0	65.75	100.00	238	3	SNP	NULL	C
MT-ND2	4536	genome.wustl.edu	37	M	2833	2833	+	5'Flank	SNP	A	A	G			TCGA-XM-AAZ1-01A-11D-A423-09	TCGA-XM-AAZ1-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6d3d8395-059b-4af7-a1cc-7b79c3030a56	439f8e89-3586-4a4f-bb80-f161de88804b	g.chrM:2833A>G	ENST00000361453.3	+	0	0				MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TV_ENST00000387342.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TM_ENST00000387377.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						CCTCGGAGCAGAACCCAACCT	0.428																																							0											0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2833A>G	Exception_encountered		Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	0	NULL	ENST00000361453.3	37	NULL		MT																																																																																			0	0		0.428	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	MT-RNR2	protein_coding		212	2	0.47	0.00	1	0	A	YP_003024027	rs3928312	A->G		2833	1	no_errors	ENST00000387347	ensembl	human	known	74_37	rna	128	0	39.62	100.00	84	2	SNP	NULL	G
EIF1AX	1964	genome.wustl.edu	37	X	20159748	20159748	+	Missense_Mutation	SNP	T	T	C			TCGA-XM-AAZ1-01A-11D-A423-09	TCGA-XM-AAZ1-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6d3d8395-059b-4af7-a1cc-7b79c3030a56	439f8e89-3586-4a4f-bb80-f161de88804b	g.chrX:20159748T>C	ENST00000379607.5	-	1	214	c.11A>G	c.(10-12)aAt>aGt	p.N4S	EIF1AX_ENST00000379593.1_Missense_Mutation_p.N4S|EIF1AX-AS1_ENST00000424026.1_RNA	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	4					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						ATTACCTTTATTCTTGGGCAT	0.697																																							0											0													20.0	19.0	20.0					X																	20159748		1827	3401	5228	SO:0001583	missense	0			L18960	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674			3250	protein-coding gene	gene with protein product		300186	"""eukaryotic translation initiation factor 1A, X chromosome"""	EIF4C, EIF1A		8106356, 9381176	Standard	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	P47813	OTTHUMG00000022704	ENST00000379607.5:c.11A>G	X.37:g.20159748T>C	ENSP00000368927:p.Asn4Ser		B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Missense_Mutation	SNP	pfam_RNA-binding_domain_S1_IF1,superfamily_NA-bd_OB-fold,smart_TIF_eIF-1A,pfscan_RNA-binding_domain_S1_IF1,tigrfam_TIF_eIF-1A	p.N4S	ENST00000379607.5	37	c.11	CCDS14196.1	X	.	.	.	.	.	.	.	.	.	.	t	16.55	3.154231	0.57259	.	.	ENSG00000173674	ENST00000379607;ENST00000379593	T;T	0.42900	0.96;1.02	4.61	4.61	0.57282	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.41396	0.1157	L	0.53249	1.67	0.23150	N	0.998218	B	0.19583	0.037	B	0.26770	0.073	T	0.39165	-0.9627	9	0.66056	D	0.02	.	10.8438	0.46730	0.0:0.0:0.0:1.0	.	4	P47813	IF1AX_HUMAN	S	4	ENSP00000368927:N4S;ENSP00000368912:N4S	ENSP00000368912:N4S	N	-	2	0	EIF1AX	20069669	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	4.068000	0.57534	1.830000	0.53286	0.438000	0.28831	AAT	0	superfamily_NA-bd_OB-fold		0.697	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF1AX	protein_coding	OTTHUMT00000058913.1	31	49	0	0.00	0	0	T		0	0		20159748	-1	no_errors	ENST00000379607	ensembl	human	known	74_37	missense	40	24	14.89	14.29	7	4	SNP	1	C
CCDC28B	79140	genome.wustl.edu	37	1	32670768	32670768	+	Intron	SNP	A	A	G			TCGA-XM-AAZ1-01A-11D-A423-09	TCGA-XM-AAZ1-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6d3d8395-059b-4af7-a1cc-7b79c3030a56	439f8e89-3586-4a4f-bb80-f161de88804b	g.chr1:32670768A>G	ENST00000373602.5	+	6	895				IQCC_ENST00000537469.1_5'Flank|IQCC_ENST00000291358.6_5'Flank|RP4-622L5.7_ENST00000421616.1_RNA|RP4-622L5.7_ENST00000373604.4_RNA|CCDC28B_ENST00000421922.2_3'UTR|CCDC28B_ENST00000483009.1_Intron	NM_024296.3	NP_077272.2	Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B						cilium assembly (GO:0042384)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GACTGGTCCAAAGCGCCACGA	0.662																																							0											0													29.0	35.0	33.0					1																	32670768		2145	4241	6386	SO:0001627	intron_variant	0			BC022848	CCDS354.2, CCDS72749.1	1p36.11-p34.2	2008-02-05			ENSG00000160050	ENSG00000160050			28163	protein-coding gene	gene with protein product		610162				16327777	Standard	XM_006710892		Approved	MGC1203, RP4-622L5.5	uc001bul.1	Q9BUN5	OTTHUMG00000005738	ENST00000373602.5:c.549-27A>G	1.37:g.32670768A>G			A8K789|Q8TBV8	RNA	SNP	0	NULL	ENST00000373602.5	37	NULL	CCDS354.2	1																																																																																			0	0		0.662	CCDC28B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000224066	protein_coding	OTTHUMT00000015723.4	34	71	0	0.00	0	0	A	NM_024296	0	0		32670768	-1	no_errors	ENST00000373604	ensembl	human	known	74_37	rna	44	40	15.38	16.67	8	8	SNP	0	G
NRAS	4893	genome.wustl.edu	37	1	115258734	115258734	+	Missense_Mutation	SNP	T	T	G			TCGA-XM-AAZ1-01A-11D-A423-09	TCGA-XM-AAZ1-10A-01D-A426-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6d3d8395-059b-4af7-a1cc-7b79c3030a56	439f8e89-3586-4a4f-bb80-f161de88804b	g.chr1:115258734T>G	ENST00000369535.4	-	2	301	c.48A>C	c.(46-48)aaA>aaC	p.K16N	CSDE1_ENST00000483407.1_5'Flank	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	16					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.K16N(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCAGTGCGCTTTTCCCAACAC	0.502		50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																													0		Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"""L, E"""	1	Substitution - Missense(1)	adrenal_gland(1)											212.0	187.0	195.0					1																	115258734		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.48A>C	1.37:g.115258734T>G	ENSP00000358548:p.Lys16Asn		Q14971|Q15104|Q15282	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.K16N	ENST00000369535.4	37	c.48	CCDS877.1	1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.406587	0.83230	.	.	ENSG00000213281	ENST00000369535	D	0.90900	-2.75	5.58	3.3	0.37823	Small GTP-binding protein domain (1);	0.000000	0.64402	U	0.000016	D	0.96993	0.9018	H	0.99927	4.965	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95525	0.8598	10	0.87932	D	0	.	8.9312	0.35672	0.0:0.2162:0.0:0.7838	.	16	P01111	RASN_HUMAN	N	16	ENSP00000358548:K16N	ENSP00000358548:K16N	K	-	3	2	NRAS	115060257	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.967000	0.40491	0.559000	0.29153	-0.250000	0.11733	AAA	0	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.502	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAS	protein_coding	OTTHUMT00000033395.2	72	287	0	0.35	0	1	T	NM_002524	0	0		115258734	-1	no_errors	ENST00000369535	ensembl	human	known	74_37	missense	103	239	10.43	11.07	12	30	SNP	1	G
SLC29A1	2030	genome.wustl.edu	37	6	44200586	44200586	+	Missense_Mutation	SNP	C	C	G			TCGA-XM-AAZ1-01A-11D-A423-09	TCGA-XM-AAZ1-10A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6d3d8395-059b-4af7-a1cc-7b79c3030a56	439f8e89-3586-4a4f-bb80-f161de88804b	g.chr6:44200586C>G	ENST00000393841.1	+	13	1593	c.1102C>G	c.(1102-1104)Cgg>Ggg	p.R368G	SLC29A1_ENST00000371740.5_Missense_Mutation_p.R368G|SLC29A1_ENST00000371713.1_Missense_Mutation_p.R368G|SLC29A1_ENST00000393844.1_Missense_Mutation_p.R368G|SLC29A1_ENST00000371755.3_Missense_Mutation_p.R368G|SLC29A1_ENST00000371731.1_Missense_Mutation_p.R368G|SLC29A1_ENST00000371724.1_Missense_Mutation_p.R368G|SLC29A1_ENST00000427851.2_Missense_Mutation_p.R368G|SLC29A1_ENST00000313248.7_Missense_Mutation_p.R447G|SLC29A1_ENST00000371708.1_Missense_Mutation_p.R368G	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	368					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	GGTGCTGGCCCGGCTGGTGTT	0.662																																							0											0													48.0	38.0	41.0					6																	44200586		2203	4300	6503	SO:0001583	missense	0			U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"""Solute carriers"""	11003	protein-coding gene	gene with protein product		602193	"""solute carrier family 29 (nucleoside transporters), member 1"""	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.1102C>G	6.37:g.44200586C>G	ENSP00000377424:p.Arg368Gly		B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Missense_Mutation	SNP	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt	p.R447G	ENST00000393841.1	37	c.1339	CCDS4908.1	6	.	.	.	.	.	.	.	.	.	.	C	18.30	3.592765	0.66219	.	.	ENSG00000112759	ENST00000393844;ENST00000313248;ENST00000427851;ENST00000371755;ENST00000371740;ENST00000371731;ENST00000393841;ENST00000371724;ENST00000371713;ENST00000371708	D;D;D;D;D;D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64	5.62	2.46	0.29980	.	0.000000	0.85682	D	0.000000	D	0.91317	0.7262	H	0.96365	3.81	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.986	D	0.92150	0.5727	10	0.87932	D	0	-13.5126	10.6711	0.45760	0.2541:0.6774:0.0:0.0685	.	447;368	B3KQV7;Q99808	.;S29A1_HUMAN	G	368;447;368;368;368;368;368;368;368;368	ENSP00000377427:R368G;ENSP00000319152:R447G;ENSP00000392668:R368G;ENSP00000360820:R368G;ENSP00000360805:R368G;ENSP00000360796:R368G;ENSP00000377424:R368G;ENSP00000360789:R368G;ENSP00000360778:R368G;ENSP00000360773:R368G	ENSP00000319152:R447G	R	+	1	2	SLC29A1	44308564	0.994000	0.37717	0.028000	0.17463	0.960000	0.62799	3.173000	0.50839	0.683000	0.31428	0.655000	0.94253	CGG	0	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt		0.662	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A1	protein_coding	OTTHUMT00000040721.1	48	46	0	0.00	0	0	C		0	0		44200586	1	no_errors	ENST00000313248	ensembl	human	known	74_37	missense	74	56	13.95	5.08	12	3	SNP	0.699	G
RNF146	81847	genome.wustl.edu	37	6	127608562	127608562	+	Missense_Mutation	SNP	A	A	T			TCGA-XM-AAZ1-01A-11D-A423-09	TCGA-XM-AAZ1-10A-01D-A426-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6d3d8395-059b-4af7-a1cc-7b79c3030a56	439f8e89-3586-4a4f-bb80-f161de88804b	g.chr6:127608562A>T	ENST00000368314.1	+	3	1228	c.804A>T	c.(802-804)gaA>gaT	p.E268D	RNF146_ENST00000610153.1_Missense_Mutation_p.E268D|RNF146_ENST00000608991.1_Missense_Mutation_p.E267D|RNF146_ENST00000309649.3_Missense_Mutation_p.E267D|RNF146_ENST00000356799.2_3'UTR|ECHDC1_ENST00000488087.1_5'Flank	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	268					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly-ADP-D-ribose binding (GO:0072572)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		AAGGAGAAGAAGATCATGAAT	0.468																																							0											0													174.0	162.0	166.0					6																	127608562		2203	4300	6503	SO:0001583	missense	0			AK027558	CCDS5136.1, CCDS56449.1	6q22.1-q22.33	2008-02-05			ENSG00000118518	ENSG00000118518		"""RING-type (C3HC4) zinc fingers"""	21336	protein-coding gene	gene with protein product		612137					Standard	NM_001242844		Approved	DKFZp434O1427, dactylidin, dJ351K20.1	uc021zes.1	Q9NTX7	OTTHUMG00000015522	ENST00000368314.1:c.804A>T	6.37:g.127608562A>T	ENSP00000357297:p.Glu268Asp		E1P572|Q6FIB2|Q7L8H4|Q96K03|Q96T06|Q9NTX6	Missense_Mutation	SNP	pfam_WWE-dom,smart_Znf_RING,smart_WWE-dom_subgr,pfscan_WWE-dom,pfscan_Znf_RING	p.E268D	ENST00000368314.1	37	c.804	CCDS56449.1	6	.	.	.	.	.	.	.	.	.	.	A	9.555	1.116917	0.20795	.	.	ENSG00000118518	ENST00000368314;ENST00000356799;ENST00000309649	T;T;T	0.27256	1.68;1.68;1.68	5.28	2.91	0.33838	.	0.186761	0.45126	D	0.000386	T	0.24851	0.0603	L	0.42245	1.32	0.41590	D	0.988796	D	0.63880	0.993	D	0.70016	0.967	T	0.01925	-1.1246	10	0.44086	T	0.13	-12.2048	9.3562	0.38168	0.7902:0.0:0.2098:0.0	.	268	Q9NTX7	RN146_HUMAN	D	268;267;267	ENSP00000357297:E268D;ENSP00000349253:E267D;ENSP00000309365:E267D	ENSP00000309365:E267D	E	+	3	2	RNF146	127650255	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	0.857000	0.27831	0.473000	0.27368	0.533000	0.62120	GAA	0	NULL		0.468	RNF146-001	KNOWN	basic|CCDS	protein_coding	RNF146	protein_coding	OTTHUMT00000042112.1	36	206	0	0.00	0	0	A	NM_030963	0	0		127608562	1	no_errors	ENST00000368314	ensembl	human	known	74_37	missense	31	140	16.22	11.95	6	19	SNP	1	T
TNFRSF11B	4982	genome.wustl.edu	37	8	119938903	119938903	+	Missense_Mutation	SNP	G	G	A			TCGA-XM-AAZ1-01A-11D-A423-09	TCGA-XM-AAZ1-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6d3d8395-059b-4af7-a1cc-7b79c3030a56	439f8e89-3586-4a4f-bb80-f161de88804b	g.chr8:119938903G>A	ENST00000297350.4	-	4	1025	c.647C>T	c.(646-648)aCg>aTg	p.T216M		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	216	Death 1.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|negative regulation of bone resorption (GO:0045779)|negative regulation of odontogenesis of dentin-containing tooth (GO:0042489)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to magnesium ion (GO:0032026)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			CCAGTTAGGCGTAAACTTTGT	0.428																																							0											0													116.0	104.0	108.0					8																	119938903		2203	4300	6503	SO:0001583	missense	0			U94332	CCDS6326.1	8q24	2008-07-31	2008-07-31		ENSG00000164761	ENSG00000164761		"""Tumor necrosis factor receptor superfamily"""	11909	protein-coding gene	gene with protein product		602643	"""osteoprotegerin"""	OPG		9108485	Standard	NM_002546		Approved	OCIF, TR1	uc003yon.4	O00300	OTTHUMG00000164969	ENST00000297350.4:c.647C>T	8.37:g.119938903G>A	ENSP00000297350:p.Thr216Met		B2R9A8|O60236|Q53FX6|Q9UHP4	Missense_Mutation	SNP	pirsf_TNFR_11B,pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_11B,prints_TNFR_11,pfscan_TNFR/NGFR_Cys_rich_reg	p.T216M	ENST00000297350.4	37	c.647	CCDS6326.1	8	.	.	.	.	.	.	.	.	.	.	G	13.54	2.268887	0.40095	.	.	ENSG00000164761	ENST00000297350	D	0.94330	-3.4	5.6	4.72	0.59763	DEATH-like (1);	0.209202	0.42294	D	0.000731	D	0.90256	0.6953	L	0.59436	1.845	0.29737	N	0.837426	P	0.48998	0.918	B	0.38985	0.287	D	0.86846	0.2020	9	.	.	.	-9.3991	11.927	0.52825	0.0813:0.0:0.9187:0.0	.	216	O00300	TR11B_HUMAN	M	216	ENSP00000297350:T216M	.	T	-	2	0	TNFRSF11B	120008084	0.945000	0.32115	0.752000	0.31206	0.558000	0.35554	3.934000	0.56553	1.351000	0.45789	0.563000	0.77884	ACG	0	pirsf_TNFR_11B,superfamily_DEATH-like_dom		0.428	TNFRSF11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF11B	protein_coding	OTTHUMT00000381220.1	51	293	0	0.00	0	0	G		0	0		119938903	-1	no_errors	ENST00000297350	ensembl	human	known	74_37	missense	75	216	9.64	11.43	8	28	SNP	0.918	A
GABBR2	9568	genome.wustl.edu	37	9	101133807	101133807	+	Missense_Mutation	SNP	G	G	A			TCGA-XM-AAZ1-01A-11D-A423-09	TCGA-XM-AAZ1-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6d3d8395-059b-4af7-a1cc-7b79c3030a56	439f8e89-3586-4a4f-bb80-f161de88804b	g.chr9:101133807G>A	ENST00000259455.2	-	12	2168	c.1709C>T	c.(1708-1710)gCc>gTc	p.A570V		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	570					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TGCAAACATGGCCCCAAAAGC	0.468																																							0											0													119.0	110.0	113.0					9																	101133807		2203	4300	6503	SO:0001583	missense	0			AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.1709C>T	9.37:g.101133807G>A	ENSP00000259455:p.Ala570Val		O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3,pfscan_GPCR_3_C	p.A570V	ENST00000259455.2	37	c.1709	CCDS6736.1	9	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460040	0.84317	.	.	ENSG00000136928	ENST00000259455	D	0.88586	-2.4	5.42	5.42	0.78866	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.94503	0.8230	M	0.80616	2.505	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.95014	0.8154	10	0.87932	D	0	-14.6522	16.7142	0.85393	0.0:0.0:1.0:0.0	.	570	O75899	GABR2_HUMAN	V	570	ENSP00000259455:A570V	ENSP00000259455:A570V	A	-	2	0	GABBR2	100173628	1.000000	0.71417	0.970000	0.41538	0.996000	0.88848	8.932000	0.92897	2.539000	0.85634	0.655000	0.94253	GCC	0	pfam_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B,pfscan_GPCR_3_C		0.468	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABBR2	protein_coding	OTTHUMT00000053373.1	62	208	0	0.00	0	0	G		0	0		101133807	-1	no_errors	ENST00000259455	ensembl	human	known	74_37	missense	58	164	7.94	6.78	5	12	SNP	1	A
CD163L1	283316	genome.wustl.edu	37	12	7548911	7548911	+	Silent	SNP	G	G	A	rs140225151	byFrequency	TCGA-XM-AAZ1-01A-11D-A423-09	TCGA-XM-AAZ1-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6d3d8395-059b-4af7-a1cc-7b79c3030a56	439f8e89-3586-4a4f-bb80-f161de88804b	g.chr12:7548911G>A	ENST00000313599.3	-	8	1887	c.1830C>T	c.(1828-1830)gaC>gaT	p.D610D	CD163L1_ENST00000416109.2_Silent_p.D620D|CD163L1_ENST00000396630.1_Silent_p.D610D			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	610	SRCR 6. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGTTCCAGCCGTCATCACACA	0.567																																							0											0								G		2,4404	4.2+/-10.8	0,2,2201	114.0	86.0	96.0		1830	-4.5	0.0	12	dbSNP_134	96	0,8600		0,0,4300	no	coding-synonymous	CD163L1	NM_174941.4		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		610/1454	7548911	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.1830C>T	12.37:g.7548911G>A			B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.D610	ENST00000313599.3	37	c.1830	CCDS8577.1	12																																																																																			0	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR		0.567	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD163L1	protein_coding	OTTHUMT00000399329.1	23	145	4.17	0.00	1	0	G	NM_174941	rs140225151	G->A		7548911	-1	no_errors	ENST00000313599	ensembl	human	known	74_37	silent	31	108	20.51	4.42	8	5	SNP	0.001	A
MT-ND2	4536	genome.wustl.edu	37	M	2455	2455	+	5'Flank	SNP	T	T	C			TCGA-XM-AAZ1-01A-11D-A423-09	TCGA-XM-AAZ1-10A-01D-A426-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d3d8395-059b-4af7-a1cc-7b79c3030a56	439f8e89-3586-4a4f-bb80-f161de88804b	g.chrM:2455T>C	ENST00000361453.3	+	0	0				MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TF_ENST00000387314.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TV_ENST00000387342.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TM_ENST00000387377.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						CATAAGGAAAGGTTAAAAAAA	0.433																																							0											0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2455T>C	Exception_encountered		Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	0	NULL	ENST00000361453.3	37	NULL		MT																																																																																			0	0		0.433	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	MT-RNR2	protein_coding		381	14	0.26	0.00	1	0	T	YP_003024027	0	0		2455	1	no_errors	ENST00000387347	ensembl	human	known	74_37	rna	191	2	41.64	0.00	137	0	SNP	NULL	C
MT-CO1	4512	genome.wustl.edu	37	M	3038	3038	+	5'Flank	SNP	T	T	C			TCGA-XM-AAZ1-01A-11D-A423-09	TCGA-XM-AAZ1-10A-01D-A426-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d3d8395-059b-4af7-a1cc-7b79c3030a56	439f8e89-3586-4a4f-bb80-f161de88804b	g.chrM:3038T>C	ENST00000361624.2	+	0	0				MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TV_ENST00000387342.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-ND2_ENST00000361453.3_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TM_ENST00000387377.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I						aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						TTAAAGGTTCGTTTGTTCAAC	0.448																																							0											0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395			M.37:g.3038T>C	Exception_encountered		Q34770	RNA	SNP	0	NULL	ENST00000361624.2	37	NULL		MT																																																																																			0	0		0.448	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MT-RNR2	protein_coding		54	5	0	0.00	0	0	T	YP_003024028	0	0		3038	1	no_errors	ENST00000387347	ensembl	human	known	74_37	rna	50	4	7.41	0.00	4	0	SNP	NULL	C
MT-CO1	4512	genome.wustl.edu	37	M	6444	6444	+	Missense_Mutation	SNP	A	A	C			TCGA-XM-AAZ1-01A-11D-A423-09	TCGA-XM-AAZ1-10A-01D-A426-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d3d8395-059b-4af7-a1cc-7b79c3030a56	439f8e89-3586-4a4f-bb80-f161de88804b	g.chrM:6444A>C	ENST00000361624.2	+	1	541	c.541A>C	c.(541-543)Acg>Ccg	p.T181P	MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TW_ENST00000387382.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TC_ENST00000387405.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-CO2_ENST00000361739.1_5'Flank|MT-CO3_ENST00000362079.2_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-TM_ENST00000387377.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	181					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						CCCAATACCAAACGCCCCTCT	0.468																																							0											0																																										SO:0001583	missense	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.541A>C	M.37:g.6444A>C	ENSP00000354499:p.Thr181Pro		Q34770	Missense_Mutation	SNP	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1	p.T181P	ENST00000361624.2	37	c.541		MT																																																																																			0	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom		0.468	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MT-CO1	protein_coding		22	3	0	0.00	0	0	A	YP_003024028	0	0		6444	1	no_errors	ENST00000361624	ensembl	human	known	74_37	missense	3	4	66.67	0.00	6	0	SNP	NULL	C
MT-CO1	4512	genome.wustl.edu	37	M	7364	7364	+	Silent	SNP	A	A	G			TCGA-XM-AAZ1-01A-11D-A423-09	TCGA-XM-AAZ1-10A-01D-A426-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d3d8395-059b-4af7-a1cc-7b79c3030a56	439f8e89-3586-4a4f-bb80-f161de88804b	g.chrM:7364A>G	ENST00000361624.2	+	1	1461	c.1461A>G	c.(1459-1461)gaA>gaG	p.E487E	MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-ATP6_ENST00000361899.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TC_ENST00000387405.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-CO2_ENST00000361739.1_5'Flank|MT-CO3_ENST00000362079.2_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-TM_ENST00000387377.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	487					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						ATAGTAGAAGAACCCTCCATA	0.398																																							0											0																																										SO:0001819	synonymous_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.1461A>G	M.37:g.7364A>G			Q34770	Silent	SNP	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1	p.E487	ENST00000361624.2	37	c.1461		MT																																																																																			0	superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom		0.398	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MT-CO1	protein_coding		110	6	0	0.00	0	0	A	YP_003024028	rs376846215	A->G		7364	1	no_errors	ENST00000361624	ensembl	human	known	74_37	silent	80	0	12.09	0.00	11	0	SNP	NULL	G
MT-ATP6	4508	genome.wustl.edu	37	M	8577	8577	+	Silent	SNP	A	A	C			TCGA-XM-AAZ1-01A-11D-A423-09	TCGA-XM-AAZ1-10A-01D-A426-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d3d8395-059b-4af7-a1cc-7b79c3030a56	439f8e89-3586-4a4f-bb80-f161de88804b	g.chrM:8577A>C	ENST00000361899.2	+	1	51	c.51A>C	c.(49-51)ctA>ctC	p.L17L	MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-TR_ENST00000387439.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-ND4_ENST00000361381.2_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-CO3_ENST00000362079.2_5'Flank			P00846	ATP6_HUMAN	mitochondrially encoded ATP synthase 6	17					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(2)|endometrium(7)|kidney(8)|prostate(1)	18						ATCCTAGGCCTACCCGCCGCA	0.423																																							0											0																																										SO:0001819	synonymous_variant	0					mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198899	ENSG00000198899		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	7414	protein-coding gene	gene with protein product		516060	"""ATP synthase 6"", ""spicular retinitis pigmentosa with dementia, seizures, ataxia, proximal muscle weakness and sensory deficit"""	MTATP6, RP		7219534	Standard			Approved	ATP6, ATPase-6, Su6m		P00846		ENST00000361899.2:c.51A>C	M.37:g.8577A>C			Q34772|Q5S8W5|Q5S9E7|Q5S9I6|Q5SA31|Q6RPB7|Q6VHC0|Q6VHE0|Q6WQF4|Q7YCC1|Q7YCF8|Q7YCG1|Q85KU8|Q85KX1|Q85L05|Q8HNQ4|Q8HNQ8|Q8WCX6|Q9B2U5|Q9B2Z2	Silent	SNP	pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu	p.L17	ENST00000361899.2	37	c.51		MT																																																																																			0	tigrfam_ATPase_F0-cplx_asu		0.423	MT-ATP6-201	KNOWN	basic|appris_principal	protein_coding	MT-ATP6	protein_coding		8	7	0	0.00	0	0	A	YP_003024031	0	0		8577	1	no_errors	ENST00000361899	ensembl	human	known	74_37	silent	1	0	33.33	0.00	2	0	SNP	NULL	C
MT-ATP6	4508	genome.wustl.edu	37	M	8725	8725	+	Missense_Mutation	SNP	A	A	G			TCGA-XM-AAZ1-01A-11D-A423-09	TCGA-XM-AAZ1-10A-01D-A426-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d3d8395-059b-4af7-a1cc-7b79c3030a56	439f8e89-3586-4a4f-bb80-f161de88804b	g.chrM:8725A>G	ENST00000361899.2	+	1	199	c.199A>G	c.(199-201)Acc>Gcc	p.T67A	MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-TR_ENST00000387439.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-ND4_ENST00000361381.2_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-CO3_ENST00000362079.2_5'Flank			P00846	ATP6_HUMAN	mitochondrially encoded ATP synthase 6	67					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(2)|endometrium(7)|kidney(8)|prostate(1)	18						CTAAAGGACGAACCTGATCTC	0.398																																							0											0																																										SO:0001583	missense	0					mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198899	ENSG00000198899		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	7414	protein-coding gene	gene with protein product		516060	"""ATP synthase 6"", ""spicular retinitis pigmentosa with dementia, seizures, ataxia, proximal muscle weakness and sensory deficit"""	MTATP6, RP		7219534	Standard			Approved	ATP6, ATPase-6, Su6m		P00846		ENST00000361899.2:c.199A>G	M.37:g.8725A>G	ENSP00000354632:p.Thr67Ala		Q34772|Q5S8W5|Q5S9E7|Q5S9I6|Q5SA31|Q6RPB7|Q6VHC0|Q6VHE0|Q6WQF4|Q7YCC1|Q7YCF8|Q7YCG1|Q85KU8|Q85KX1|Q85L05|Q8HNQ4|Q8HNQ8|Q8WCX6|Q9B2U5|Q9B2Z2	Missense_Mutation	SNP	pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu	p.T67A	ENST00000361899.2	37	c.199		MT																																																																																			0	pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu		0.398	MT-ATP6-201	KNOWN	basic|appris_principal	protein_coding	MT-ATP6	protein_coding		17	9	0	0.00	0	0	A	YP_003024031	0	0		8725	1	no_errors	ENST00000361899	ensembl	human	known	74_37	missense	6	1	25	0.00	2	0	SNP	NULL	G
KRTAP4-11	653240	genome.wustl.edu	37	17	39274432	39274432	+	Missense_Mutation	SNP	C	C	T			TCGA-XM-AAZ1-01A-11D-A423-09	TCGA-XM-AAZ1-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6d3d8395-059b-4af7-a1cc-7b79c3030a56	439f8e89-3586-4a4f-bb80-f161de88804b	g.chr17:39274432C>T	ENST00000391413.2	-	1	174	c.136G>A	c.(136-138)Gtg>Atg	p.V46M		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	46	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CAGCTGGACACACAGCAGCTG	0.677																																							0											0													14.0	18.0	17.0					17																	39274432		690	1591	2281	SO:0001583	missense	0			AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.136G>A	17.37:g.39274432C>T	ENSP00000375232:p.Val46Met		A0AUY2	Missense_Mutation	SNP	pfam_Keratin-assoc	p.V46M	ENST00000391413.2	37	c.136	CCDS45675.1	17	.	.	.	.	.	.	.	.	.	.	.	10.56	1.385842	0.25031	.	.	ENSG00000212721	ENST00000391413	T	0.01430	4.9	3.76	-6.69	0.01772	.	0.911881	0.08829	U	0.887602	T	0.03739	0.0106	M	0.84948	2.725	0.09310	N	1	P	0.40266	0.71	P	0.46585	0.521	T	0.02144	-1.1206	10	0.54805	T	0.06	.	8.7851	0.34816	0.0:0.3102:0.5247:0.1651	.	46	Q9BYQ6	KR411_HUMAN	M	46	ENSP00000375232:V46M	ENSP00000375232:V46M	V	-	1	0	KRTAP4-11	36527958	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-2.396000	0.01052	-0.895000	0.03920	-1.166000	0.01754	GTG	0	pfam_Keratin-assoc		0.677	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-11	protein_coding	OTTHUMT00000257690.1	115	2	0	0.00	0	0	C		0	0		39274432	-1	no_errors	ENST00000391413	ensembl	human	known	74_37	missense	132	2	7.04	0.00	10	0	SNP	0	T
