#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	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_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_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
DCDC2B	149069	broad.mit.edu	37	1	32674910	32674910	+	Silent	SNP	G	G	A	rs551185618		TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr1:32674910G>A	ENST00000409358.1	+	1	216	c.216G>A	c.(214-216)aaG>aaA	p.K72K	RP4-622L5.7_ENST00000421616.1_RNA	NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B	72	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				intracellular signal transduction (GO:0035556)					breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CAGACTTGAAGAACAGAGGGC	0.582													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19820	0.0		0.0	False		,,,				2504	0.0					ENST00000409358.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11						c.(214-216)aaG>aaA		doublecortin domain containing 2B							96.0	100.0	99.0					1																	32674910		2074	4204	6278	SO:0001819	synonymous_variant	149069				intracellular signal transduction			g.chr1:32674910G>A	BC128073	CCDS44100.1	1p35.1	2008-05-13			ENSG00000222046	ENSG00000222046			32576	protein-coding gene	gene with protein product							Standard	NM_001099434		Approved		uc001bun.2	A2VCK2	OTTHUMG00000005741	ENST00000409358.1:c.216G>A	1.37:g.32674910G>A							p.K72K	NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN			1	216	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	72			Doublecortin 1.		B7ZBC6	Silent	SNP	ENST00000409358.1	37	c.216G>A	CCDS44100.1																																																																																				0.582	DCDC2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328293.1	XM_940631		22	53	22	53	---	---	---	---
RNF220	55182	broad.mit.edu	37	1	44877961	44877961	+	Silent	SNP	C	C	T	rs183301724	byFrequency	TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr1:44877961C>T	ENST00000355387.2	+	2	642	c.192C>T	c.(190-192)aaC>aaT	p.N64N	RNF220_ENST00000372247.2_Silent_p.N64N|RNF220_ENST00000361799.2_Silent_p.N64N			Q5VTB9	RN220_HUMAN	ring finger protein 220	64					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CTTTCACCAACGGTTCCTATA	0.547													C|||	2	0.000399361	0.0	0.0029	5008	,	,		21724	0.0		0.0	False		,,,				2504	0.0					ENST00000355387.2																			0				endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						c.(190-192)aaC>aaT		ring finger protein 220		C		0,4406		0,0,2203	302.0	289.0	293.0		192	-4.3	1.0	1		293	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RNF220	NM_018150.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		64/567	44877961	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55182				protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr1:44877961C>T	AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"""RING-type (C3HC4) zinc fingers"""	25552	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 164"""	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.192C>T	1.37:g.44877961C>T						RNF220_ENST00000361799.2_Silent_p.N64N|RNF220_ENST00000372247.2_Silent_p.N64N	p.N64N			Q5VTB9	RN220_HUMAN			2	642	+			64					B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Silent	SNP	ENST00000355387.2	37	c.192C>T	CCDS510.1																																																																																				0.547	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	NM_018150		78	244	78	244	---	---	---	---
ATP6V1C2	245973	broad.mit.edu	37	2	10915197	10915197	+	Splice_Site	SNP	T	T	A			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr2:10915197T>A	ENST00000272238.4	+	10	934	c.825T>A	c.(823-825)taT>taA	p.Y275*	ATP6V1C2_ENST00000381661.3_Splice_Site_p.Y275*	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	275					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		AGCAACAGTATGTGAGTATGT	0.498																																					NSCLC(188;1042 2136 10807 16813 47705)	ENST00000381661.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(823-825)taT>taA		ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2							144.0	145.0	145.0					2																	10915197		2203	4300	6503	SO:0001630	splice_region_variant	245973				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		g.chr2:10915197T>A	AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"""ATPases / V-type"""	18264	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"""			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.825+1T>A	2.37:g.10915197T>A						ATP6V1C2_ENST00000272238.4_Splice_Site_p.Y275*	p.Y275*	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN		Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)	10	934	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		275					Q96EL8	Splice_Site	SNP	ENST00000272238.4	37	c.825T>A	CCDS42653.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.445935	0.84101	.	.	ENSG00000143882	ENST00000272238;ENST00000381661	.	.	.	5.46	4.3	0.51218	.	0.133396	0.52532	D	0.000061	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-2.6702	11.4521	0.50158	0.0:0.071:0.0:0.929	.	.	.	.	X	275	.	ENSP00000272238:Y275X	Y	+	3	2	ATP6V1C2	10832648	1.000000	0.71417	1.000000	0.80357	0.148000	0.21650	4.285000	0.58989	0.914000	0.36822	0.402000	0.26972	TAT		0.498	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323555.1	NM_144583	Nonsense_Mutation	11	32	11	32	---	---	---	---
KRCC1	51315	broad.mit.edu	37	2	88327466	88327466	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr2:88327466G>C	ENST00000347055.3	-	4	1010	c.617C>G	c.(616-618)aCc>aGc	p.T206S		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	206	Lys-rich.									cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						GACATGTACGGTTTCTATTTC	0.383																																						ENST00000347055.3																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.(616-618)aCc>aGc		lysine-rich coiled-coil 1							150.0	161.0	158.0					2																	88327466		2203	4300	6503	SO:0001583	missense	51315							g.chr2:88327466G>C	AF208845	CCDS2000.1	2p11.2	2008-02-05			ENSG00000172086	ENSG00000172086			28039	protein-coding gene	gene with protein product						12477932	Standard	XM_005264360		Approved	FLJ22333	uc002sso.1	Q9NPI7	OTTHUMG00000130315	ENST00000347055.3:c.617C>G	2.37:g.88327466G>C	ENSP00000340083:p.Thr206Ser						p.T206S	NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN			4	1010	-			206			Lys-rich.		Q3B7J7	Missense_Mutation	SNP	ENST00000347055.3	37	c.617C>G	CCDS2000.1	.	.	.	.	.	.	.	.	.	.	G	7.506	0.653594	0.14580	.	.	ENSG00000172086	ENST00000347055	T	0.33438	1.41	2.14	2.14	0.27477	.	0.637169	0.12288	U	0.482222	T	0.26484	0.0647	L	0.40543	1.245	0.09310	N	1	P	0.49961	0.93	P	0.47102	0.537	T	0.07385	-1.0775	10	0.16420	T	0.52	-20.9974	7.8418	0.29403	0.0:0.0:1.0:0.0	.	206	Q9NPI7	KRCC1_HUMAN	S	206	ENSP00000340083:T206S	ENSP00000340083:T206S	T	-	2	0	KRCC1	88108581	0.002000	0.14202	0.509000	0.27700	0.788000	0.44548	0.642000	0.24735	1.511000	0.48818	0.650000	0.86243	ACC		0.383	KRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252664.1	NM_016618		64	145	64	145	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	140995791	140995791	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr2:140995791A>G	ENST00000389484.3	-	89	14461	c.13490T>C	c.(13489-13491)aTg>aCg	p.M4497T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4497					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TACCTCATACATGTTATAAGA	0.338										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(13489-13491)aTg>aCg		low density lipoprotein receptor-related protein 1B							198.0	185.0	189.0					2																	140995791		2203	4299	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:140995791A>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.13490T>C	2.37:g.140995791A>G	ENSP00000374135:p.Met4497Thr	TSP Lung(27;0.18)					p.M4497T	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	89	14461	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4497					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.13490T>C	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.58|17.58	3.424037|3.424037	0.62733|0.62733	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000437977;ENST00000442974|ENST00000389484;ENST00000544579	.|T	.|0.40756	.|1.02	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.43478|0.43478	0.1249|0.1249	M|M	0.67397|0.67397	2.05|2.05	0.47476|0.47476	D|D	0.999431|0.999431	.|P	.|0.35433	.|0.501	.|B	.|0.30646	.|0.118	T|T	0.47711|0.47711	-0.9096|-0.9096	5|10	.|0.72032	.|D	.|0.01	.|.	16.1667|16.1667	0.81768|0.81768	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|4497	.|Q9NZR2	.|LRP1B_HUMAN	R|T	729;267|4497;4435	.|ENSP00000374135:M4497T	.|ENSP00000374135:M4497T	C|M	-|-	1|2	0|0	LRP1B|LRP1B	140712261|140712261	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	8.730000|8.730000	0.91510|0.91510	2.210000|2.210000	0.71456|0.71456	0.533000|0.533000	0.62120|0.62120	TGT|ATG		0.338	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		13	41	13	41	---	---	---	---
FARP2	9855	broad.mit.edu	37	2	242373670	242373670	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr2:242373670T>G	ENST00000264042.3	+	10	1135	c.965T>G	c.(964-966)cTt>cGt	p.L322R	FARP2_ENST00000545004.1_Missense_Mutation_p.L322R|FARP2_ENST00000373287.4_Missense_Mutation_p.L322R	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	322	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		TTTTTTAGACTTTTGGACCAA	0.478																																						ENST00000264042.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(964-966)cTt>cGt		FERM, RhoGEF and pleckstrin domain protein 2							130.0	134.0	133.0					2																	242373670		2203	4300	6503	SO:0001583	missense	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242373670T>G	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.965T>G	2.37:g.242373670T>G	ENSP00000264042:p.Leu322Arg					FARP2_ENST00000545004.1_Missense_Mutation_p.L322R|FARP2_ENST00000373287.4_Missense_Mutation_p.L322R	p.L322R	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	10	1135	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	322			FERM.		B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	ENST00000264042.3	37	c.965T>G	CCDS33424.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.294604	0.81025	.	.	ENSG00000006607	ENST00000264042;ENST00000545004;ENST00000373287;ENST00000413432	D;D;D;D	0.86432	-2.12;-2.12;-2.12;-1.68	5.2	5.2	0.72013	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.078401	0.48767	D	0.000166	D	0.94676	0.8283	M	0.90977	3.165	0.58432	D	0.99999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.997	D	0.95778	0.8814	10	0.87932	D	0	.	15.0632	0.71970	0.0:0.0:0.0:1.0	.	322;322;322	O94887-2;F5GZ84;O94887	.;.;FARP2_HUMAN	R	322;322;322;9	ENSP00000264042:L322R;ENSP00000443876:L322R;ENSP00000362384:L322R;ENSP00000412772:L9R	ENSP00000264042:L322R	L	+	2	0	FARP2	242022343	0.999000	0.42202	0.103000	0.21229	0.973000	0.67179	7.748000	0.85085	1.956000	0.56807	0.455000	0.32223	CTT		0.478	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			6	77	6	77	---	---	---	---
LRRC15	131578	broad.mit.edu	37	3	194080233	194080233	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr3:194080233C>A	ENST00000347624.3	-	2	1625	c.1540G>T	c.(1540-1542)Gac>Tac	p.D514Y	LRRC15_ENST00000428839.1_Missense_Mutation_p.D520Y|LRRC15_ENST00000439944.2_Missense_Mutation_p.D520Y	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	514					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)			biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TCAGTGTAGTCTTCCACAGGG	0.557																																						ENST00000347624.3																			0				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1540-1542)Gac>Tac		leucine rich repeat containing 15							156.0	151.0	153.0					3																	194080233		2203	4300	6503	SO:0001583	missense	131578					integral to membrane		g.chr3:194080233C>A	AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.1540G>T	3.37:g.194080233C>A	ENSP00000306276:p.Asp514Tyr					LRRC15_ENST00000428839.1_Missense_Mutation_p.D520Y|LRRC15_ENST00000439944.2_Missense_Mutation_p.D520Y	p.D514Y	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)	2	1625	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		514					Q495Q6|Q7RTN7	Missense_Mutation	SNP	ENST00000347624.3	37	c.1540G>T	CCDS3306.1	.	.	.	.	.	.	.	.	.	.	C	6.476	0.455983	0.12283	.	.	ENSG00000172061	ENST00000347624;ENST00000439944;ENST00000428839	T;T;T	0.58060	0.36;0.41;0.41	5.43	4.56	0.56223	.	0.326278	0.28933	N	0.013665	T	0.47525	0.1450	N	0.24115	0.695	0.21220	N	0.999751	P;P	0.51537	0.91;0.946	P;P	0.55999	0.498;0.789	T	0.32295	-0.9912	10	0.11182	T	0.66	.	10.7469	0.46185	0.0:0.8486:0.0:0.1514	.	514;520	Q8TF66;Q8TF66-2	LRC15_HUMAN;.	Y	514;520;520	ENSP00000306276:D514Y;ENSP00000389128:D520Y;ENSP00000413707:D520Y	ENSP00000306276:D514Y	D	-	1	0	LRRC15	195561528	0.030000	0.19436	0.692000	0.30179	0.080000	0.17528	1.375000	0.34295	1.455000	0.47813	0.655000	0.94253	GAC		0.557	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			12	32	12	32	---	---	---	---
NLN	57486	broad.mit.edu	37	5	65077143	65077143	+	Silent	SNP	T	T	C			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr5:65077143T>C	ENST00000380985.5	+	6	895	c.717T>C	c.(715-717)taT>taC	p.Y239Y	NLN_ENST00000502464.1_Silent_p.Y135Y	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	239						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		ATGACAAGTATAAAATTACCT	0.338																																						ENST00000380985.5																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(715-717)taT>taC		neurolysin (metallopeptidase M3 family)							83.0	85.0	84.0					5																	65077143		2203	4298	6501	SO:0001819	synonymous_variant	57486				proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity	g.chr5:65077143T>C	AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"""angiotensin binding protein"""	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.717T>C	5.37:g.65077143T>C						NLN_ENST00000502464.1_Silent_p.Y135Y	p.Y239Y	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)	6	895	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	239					Q9ULJ4	Silent	SNP	ENST00000380985.5	37	c.717T>C	CCDS3989.1																																																																																				0.338	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215060.1			12	52	12	52	---	---	---	---
H2AFV	94239	broad.mit.edu	37	7	44874154	44874154	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr7:44874154G>C	ENST00000308153.4	-	5	424	c.333C>G	c.(331-333)atC>atG	p.I111M	H2AFV_ENST00000222690.6_Intron|H2AFV_ENST00000349299.3_Missense_Mutation_p.I73M|H2AFV_ENST00000350771.3_Missense_Mutation_p.I85M|H2AFV_ENST00000381124.5_3'UTR|H2AFV_ENST00000521529.1_3'UTR|H2AFV_ENST00000437072.1_Intron	NM_012412.4	NP_036544.1	Q71UI9	H2AV_HUMAN	H2A histone family, member V	111						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	9						GGATGTGAGGGATCACACCTA	0.333																																						ENST00000308153.4																			0				endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	9						c.(331-333)atC>atG		H2A histone family, member V							78.0	69.0	72.0					7																	44874154		2203	4300	6503	SO:0001583	missense	94239				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr7:44874154G>C	AF081192	CCDS5495.1, CCDS5496.1, CCDS5497.1, CCDS5498.1, CCDS47581.1	7p13	2011-01-27		2004-03-26	ENSG00000105968	ENSG00000105968		"""Histones / Replication-independent"""	20664	protein-coding gene	gene with protein product				H2AV			Standard	NM_012412		Approved	MGC10170, MGC10831, MGC1947	uc003tma.2	Q71UI9	OTTHUMG00000129217	ENST00000308153.4:c.333C>G	7.37:g.44874154G>C	ENSP00000308405:p.Ile111Met					H2AFV_ENST00000437072.1_Intron|H2AFV_ENST00000521529.1_3'UTR|H2AFV_ENST00000350771.3_Missense_Mutation_p.I85M|H2AFV_ENST00000349299.3_Missense_Mutation_p.I73M|H2AFV_ENST00000222690.6_Intron|H2AFV_ENST00000381124.5_3'UTR	p.I111M	NM_012412.4	NP_036544.1	Q71UI9	H2AV_HUMAN			5	424	-			111					A6NFA8|A6NKY0|A6NN01|A8MQC5|Q59GV8|Q6PK98	Missense_Mutation	SNP	ENST00000308153.4	37	c.333C>G	CCDS5496.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.122631	0.56613	.	.	ENSG00000105968	ENST00000349299;ENST00000308153;ENST00000350771	T;D;T	0.83591	0.83;-1.74;0.85	5.67	1.24	0.21308	Histone-fold (1);Histone H2A (2);	.	.	.	.	D	0.84238	0.5428	M	0.70108	2.13	0.80722	D	1	P;P;P	0.49862	0.726;0.458;0.929	P;B;P	0.51487	0.671;0.23;0.5	T	0.82279	-0.0536	9	0.62326	D	0.03	-9.5729	8.5561	0.33483	0.432:0.0:0.568:0.0	.	85;73;111	A6NKY0;A6NFA8;Q71UI9	.;.;H2AV_HUMAN	M	73;111;85	ENSP00000342714:I73M;ENSP00000308405:I111M;ENSP00000340708:I85M	ENSP00000308405:I111M	I	-	3	3	H2AFV	44840679	0.894000	0.30519	1.000000	0.80357	0.992000	0.81027	0.057000	0.14279	0.318000	0.23185	0.561000	0.74099	ATC		0.333	H2AFV-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251305.1	NM_012412		6	43	6	43	---	---	---	---
KIAA1324L	222223	broad.mit.edu	37	7	86537841	86537841	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr7:86537841G>A	ENST00000450689.2	-	17	2563	c.2378C>T	c.(2377-2379)aCa>aTa	p.T793I	KIAA1324L_ENST00000297222.6_Missense_Mutation_p.T553I|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.T722I|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.T626I	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	793						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					ATTTTTCAATGTGGTTTCAAC	0.303																																						ENST00000450689.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(2377-2379)aCa>aTa		KIAA1324-like							83.0	90.0	88.0					7																	86537841		2202	4290	6492	SO:0001583	missense	222223					integral to membrane		g.chr7:86537841G>A	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.2378C>T	7.37:g.86537841G>A	ENSP00000413445:p.Thr793Ile					KIAA1324L_ENST00000297222.6_Missense_Mutation_p.T553I|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.T626I|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.T722I	p.T793I	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN			17	2563	-	Esophageal squamous(14;0.0058)		793					A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	c.2378C>T	CCDS47632.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080552	0.36662	.	.	ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314	T;T;T;T	0.03920	3.76;3.76;3.76;3.76	5.8	5.8	0.92144	Mannose-6-phosphate receptor, binding (1);	0.472558	0.24198	N	0.040643	T	0.05364	0.0142	L	0.36672	1.1	0.31724	N	0.637875	B;B;B	0.18741	0.03;0.01;0.006	B;B;B	0.15484	0.013;0.005;0.005	T	0.06285	-1.0835	10	0.33940	T	0.23	.	12.3	0.54868	0.0848:0.0:0.9152:0.0	.	793;553;626	A8MWY0;A8MWY0-2;B4DJV3	K132L_HUMAN;.;.	I	793;553;722;626	ENSP00000413445:T793I;ENSP00000297222:T553I;ENSP00000397377:T722I;ENSP00000402390:T626I	ENSP00000297222:T553I	T	-	2	0	KIAA1324L	86375777	1.000000	0.71417	0.981000	0.43875	0.962000	0.63368	2.032000	0.41127	2.744000	0.94065	0.655000	0.94253	ACA		0.303	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		22	34	22	34	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100685726	100685726	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr7:100685726G>T	ENST00000306151.4	+	3	11093	c.11029G>T	c.(11029-11031)Gtg>Ttg	p.V3677L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3677	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TTCATCTCCTGTGACTCCTGA	0.517																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(11029-11031)Gtg>Ttg		mucin 17, cell surface associated							203.0	187.0	192.0					7																	100685726		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100685726G>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.11029G>T	7.37:g.100685726G>T	ENSP00000302716:p.Val3677Leu						p.V3677L	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	11093	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3677			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.11029G>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	g	6.038	0.375360	0.11409	.	.	ENSG00000169876	ENST00000306151	T	0.02177	4.41	1.2	-2.4	0.06583	.	.	.	.	.	T	0.01287	0.0042	N	0.08118	0	0.09310	N	1	P	0.43314	0.803	P	0.44477	0.451	T	0.29792	-1.0000	9	0.23302	T	0.38	.	0.8038	0.01080	0.23:0.2017:0.3671:0.2012	.	3677	Q685J3	MUC17_HUMAN	L	3677	ENSP00000302716:V3677L	ENSP00000302716:V3677L	V	+	1	0	MUC17	100472446	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.655000	0.01982	-1.799000	0.01248	-1.453000	0.01033	GTG		0.517	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		43	94	43	94	---	---	---	---
SMU1	55234	broad.mit.edu	37	9	33057683	33057683	+	Silent	SNP	A	A	G			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr9:33057683A>G	ENST00000397149.3	-	7	830	c.780T>C	c.(778-780)ttT>ttC	p.F260F	SMU1_ENST00000536631.1_Silent_p.F99F	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	260						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CCATCATCATAAAGTTATCTT	0.403																																						ENST00000397149.3																			0				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9						c.(778-780)ttT>ttC		smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)							150.0	139.0	142.0					9																	33057683		2203	4300	6503	SO:0001819	synonymous_variant	55234					cytoplasm|nucleus		g.chr9:33057683A>G	AK001667	CCDS6534.1	9p12	2013-01-10			ENSG00000122692	ENSG00000122692		"""WD repeat domain containing"""	18247	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 57"""					11438655, 11410362	Standard	NM_018225		Approved	SMU-1, FLJ10805, BWD, fSAP57	uc003zsf.1	Q2TAY7	OTTHUMG00000019757	ENST00000397149.3:c.780T>C	9.37:g.33057683A>G						SMU1_ENST00000536631.1_Silent_p.F99F	p.F260F	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)	7	830	-			260					B4E3L0|Q9BU59|Q9HA96|Q9NVD1	Silent	SNP	ENST00000397149.3	37	c.780T>C	CCDS6534.1																																																																																				0.403	SMU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052022.1	NM_018225		5	147	5	147	---	---	---	---
HSPA12A	259217	broad.mit.edu	37	10	118460629	118460629	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr10:118460629C>T	ENST00000369209.3	-	4	370	c.266G>A	c.(265-267)gGa>gAa	p.G89E		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	89						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		AGGGTCACCTCCCTCCCATCG	0.527																																						ENST00000369209.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(265-267)gGa>gAa		heat shock 70kDa protein 12A							71.0	74.0	73.0					10																	118460629		2075	4220	6295	SO:0001583	missense	259217						ATP binding	g.chr10:118460629C>T	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.266G>A	10.37:g.118460629C>T	ENSP00000358211:p.Gly89Glu						p.G89E	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN		all cancers(201;0.0158)	4	370	-			89						Missense_Mutation	SNP	ENST00000369209.3	37	c.266G>A	CCDS41569.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.009595	0.93346	.	.	ENSG00000165868	ENST00000369209	T	0.53423	0.62	5.62	5.62	0.85841	.	0.096661	0.64402	D	0.000001	T	0.67078	0.2855	M	0.87097	2.86	0.80722	D	1	P	0.42409	0.779	P	0.48704	0.587	T	0.72858	-0.4165	10	0.87932	D	0	.	19.6599	0.95861	0.0:1.0:0.0:0.0	.	89	O43301	HS12A_HUMAN	E	89	ENSP00000358211:G89E	ENSP00000358211:G89E	G	-	2	0	HSPA12A	118450619	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.726000	0.84824	2.652000	0.90054	0.655000	0.94253	GGA		0.527	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		17	48	17	48	---	---	---	---
SCYL1	57410	broad.mit.edu	37	11	65302785	65302785	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr11:65302785G>T	ENST00000270176.5	+	10	1395	c.1318G>T	c.(1318-1320)Gaa>Taa	p.E440*	SCYL1_ENST00000279270.6_Nonsense_Mutation_p.E440*|SCYL1_ENST00000524944.1_Nonsense_Mutation_p.E440*|SCYL1_ENST00000525364.1_Nonsense_Mutation_p.E440*|SCYL1_ENST00000420247.2_Nonsense_Mutation_p.E440*|SCYL1_ENST00000527009.1_Nonsense_Mutation_p.E297*|SCYL1_ENST00000533862.1_Nonsense_Mutation_p.E440*	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	440					peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)			ovary(1)|skin(1)	2						GGCCAAGGATGAACAGGGCCC	0.592																																						ENST00000524944.1																			0				ovary(1)|skin(1)	2						c.(1318-1320)Gaa>Taa		SCY1-like 1 (S. cerevisiae)							120.0	126.0	124.0					11																	65302785		2164	4257	6421	SO:0001587	stop_gained	57410				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity	g.chr11:65302785G>T	AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"""teratoma-associated tyrosine kinase"", ""telomerase transcriptional elements-interacting factor"", ""telomerase regulation-associated protein"""	607982	"""N-terminal kinase-like"""	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.1318G>T	11.37:g.65302785G>T	ENSP00000270176:p.Glu440*					SCYL1_ENST00000527009.1_Nonsense_Mutation_p.E297*|SCYL1_ENST00000533862.1_Nonsense_Mutation_p.E440*|SCYL1_ENST00000279270.6_Nonsense_Mutation_p.E440*|SCYL1_ENST00000270176.5_Nonsense_Mutation_p.E440*|SCYL1_ENST00000525364.1_Nonsense_Mutation_p.E440*|SCYL1_ENST00000420247.2_Nonsense_Mutation_p.E440*	p.E440*			Q96KG9	NTKL_HUMAN			10	1351	+			440					A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Nonsense_Mutation	SNP	ENST00000270176.5	37	c.1318G>T	CCDS41672.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.041539	0.93685	.	.	ENSG00000142186	ENST00000270176;ENST00000525364;ENST00000420247;ENST00000533862;ENST00000527630;ENST00000349495;ENST00000279270;ENST00000524944;ENST00000527009	.	.	.	4.64	4.64	0.57946	.	0.342689	0.31601	N	0.007380	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-2.4666	14.9939	0.71415	0.0:0.0:1.0:0.0	.	.	.	.	X	440;440;440;440;440;440;440;440;297	.	ENSP00000270176:E440X	E	+	1	0	SCYL1	65059361	1.000000	0.71417	0.876000	0.34364	0.888000	0.51559	6.804000	0.75186	2.138000	0.66242	0.313000	0.20887	GAA		0.592	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	NM_020680		17	63	17	63	---	---	---	---
ATM	472	broad.mit.edu	37	11	108224576	108224576	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr11:108224576G>A	ENST00000452508.2	+	61	8944	c.8755G>A	c.(8755-8757)Ggc>Agc	p.G2919S	C11orf65_ENST00000526725.1_Intron|ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.G2919S			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2919	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GGATGGCATGGGCATTACGGG	0.408			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(8755-8757)Ggc>Agc	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							212.0	202.0	206.0					11																	108224576		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108224576G>A	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8755G>A	11.37:g.108224576G>A	ENSP00000388058:p.Gly2919Ser	TSP Lung(14;0.12)				C11orf65_ENST00000526725.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.G2919S|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000525178.1_3'UTR	p.G2919S	NM_000051.3	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	60	9140	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2919			PI3K/PI4K.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.8755G>A	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	36	5.670933	0.96754	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.86097	-2.07;-2.07	5.42	5.42	0.78866	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.94069	0.8099	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94927	0.8079	10	0.87932	D	0	.	19.2126	0.93763	0.0:0.0:1.0:0.0	.	2919	Q13315	ATM_HUMAN	S	2919	ENSP00000278616:G2919S;ENSP00000388058:G2919S	ENSP00000278616:G2919S	G	+	1	0	ATM	107729786	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.863000	0.99569	2.538000	0.85594	0.561000	0.74099	GGC		0.408	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		28	97	28	97	---	---	---	---
ATM	472	broad.mit.edu	37	11	108224578	108224578	+	Silent	SNP	C	C	G			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr11:108224578C>G	ENST00000452508.2	+	61	8946	c.8757C>G	c.(8755-8757)ggC>ggG	p.G2919G	C11orf65_ENST00000526725.1_Intron|ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Silent_p.G2919G			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2919	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	ATGGCATGGGCATTACGGGTG	0.403			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(8755-8757)ggC>ggG	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							212.0	202.0	206.0					11																	108224578		2201	4298	6499	SO:0001819	synonymous_variant	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108224578C>G	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8757C>G	11.37:g.108224578C>G		TSP Lung(14;0.12)				C11orf65_ENST00000526725.1_Intron|ATM_ENST00000452508.2_Silent_p.G2919G|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000525178.1_3'UTR	p.G2919G	NM_000051.3	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	60	9142	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2919			PI3K/PI4K.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Silent	SNP	ENST00000452508.2	37	c.8757C>G	CCDS31669.1																																																																																				0.403	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		28	97	28	97	---	---	---	---
UNC79	57578	broad.mit.edu	37	14	94008906	94008906	+	Missense_Mutation	SNP	T	T	A			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr14:94008906T>A	ENST00000393151.2	+	14	1619	c.1619T>A	c.(1618-1620)aTg>aAg	p.M540K	UNC79_ENST00000553484.1_Missense_Mutation_p.M540K|UNC79_ENST00000555664.1_Missense_Mutation_p.M540K|UNC79_ENST00000256339.4_Missense_Mutation_p.M363K			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	540					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ACTGCGTATATGATGGATGAT	0.512																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(1618-1620)aTg>aAg		unc-79 homolog (C. elegans)							212.0	164.0	180.0					14																	94008906		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94008906T>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.1619T>A	14.37:g.94008906T>A	ENSP00000376858:p.Met540Lys					UNC79_ENST00000256339.4_Missense_Mutation_p.M363K|UNC79_ENST00000555664.1_Missense_Mutation_p.M540K|UNC79_ENST00000393151.2_Missense_Mutation_p.M540K	p.M540K			Q9P2D8	UNC79_HUMAN			14	1773	+			540					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.1619T>A		.	.	.	.	.	.	.	.	.	.	T	28.4	4.917074	0.92249	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.30386	0.0763	L	0.36672	1.1	0.58432	D	0.999998	P	0.48998	0.918	P	0.61132	0.884	T	0.00928	-1.1511	10	0.41790	T	0.15	-29.602	16.1512	0.81624	0.0:0.0:0.0:1.0	.	540	C9JQL1	.	K	363;540;540;540;540	ENSP00000256339:M363K;ENSP00000450868:M540K;ENSP00000451360:M540K;ENSP00000376858:M540K	ENSP00000256339:M363K	M	+	2	0	KIAA1409	93078659	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.000000	0.88501	2.204000	0.70986	0.528000	0.53228	ATG		0.512	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		14	107	14	107	---	---	---	---
SLTM	79811	broad.mit.edu	37	15	59186349	59186350	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr15:59186349_59186350TC>AT	ENST00000380516.2	-	11	1507_1508	c.1420_1421GA>AT	c.(1420-1422)GAt>ATt	p.D474I	AC025918.2_ENST00000452467.1_RNA|SLTM_ENST00000536328.1_Missense_Mutation_p.D43I	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	474					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACTCTTTTCATCATTTTCTTTC	0.282																																						ENST00000380516.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1420-1422)gAt>gTt|c.(1420-1422)Gat>Aat		SAFB-like, transcription modulator																																				SO:0001583	missense	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59186349T>A|g.chr15:59186350C>T	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.1420_1421delinsAT	15.37:g.59186349_59186350delinsAT	ENSP00000369887:p.Asp474Ile					SLTM_ENST00000536328.1_Missense_Mutation_p.D43V|SLTM_ENST00000536328.1_Missense_Mutation_p.D43N	p.D474V|p.D474N	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN			11	1508|1507	-			474					A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000380516.2	37	c.1421A>T|c.1420G>A	CCDS10168.2																																																																																				0.282	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		8	22|21	8	21	---	---	---	---
ZNF319	57567	broad.mit.edu	37	16	58030795	58030795	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr16:58030795G>A	ENST00000299237.2	-	2	1997	c.1375C>T	c.(1375-1377)Cgc>Tgc	p.R459C	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	459					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						AGCGTGCAGCGCAGGGGCTTC	0.662																																						ENST00000299237.2																			0				large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						c.(1375-1377)Cgc>Tgc		zinc finger protein 319							20.0	22.0	21.0					16																	58030795		2197	4300	6497	SO:0001583	missense	57567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:58030795G>A	AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"""Zinc fingers, C2H2-type"""	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9		ENST00000299237.2:c.1375C>T	16.37:g.58030795G>A	ENSP00000299237:p.Arg459Cys						p.R459C	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN			2	1997	-			459					Q52LH8	Missense_Mutation	SNP	ENST00000299237.2	37	c.1375C>T	CCDS32462.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922538	0.52653	.	.	ENSG00000166188	ENST00000299237	T	0.44083	0.93	5.07	4.05	0.47172	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.118187	0.51477	D	0.000087	T	0.53786	0.1818	L	0.52011	1.625	0.49389	D	0.999784	D	0.89917	1.0	D	0.63033	0.91	T	0.57225	-0.7848	10	0.87932	D	0	-35.2385	12.4054	0.55436	0.0:0.0:0.7561:0.2439	.	459	Q9P2F9	ZN319_HUMAN	C	459	ENSP00000299237:R459C	ENSP00000299237:R459C	R	-	1	0	ZNF319	56588296	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	4.483000	0.60264	2.353000	0.79882	0.561000	0.74099	CGC		0.662	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			3	8	3	8	---	---	---	---
FBXW10	10517	broad.mit.edu	37	17	18651256	18651256	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr17:18651256C>T	ENST00000395665.4	+	2	729	c.508C>T	c.(508-510)Ctc>Ttc	p.L170F	FBXW10_ENST00000308799.4_Missense_Mutation_p.L170F|FBXW10_ENST00000395667.1_Missense_Mutation_p.L170F|FBXW10_ENST00000301938.4_Missense_Mutation_p.L170F			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	170										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TGTTTCAGGGCTCAATCAAGA	0.443																																						ENST00000308799.4																			0				NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(508-510)Ctc>Ttc		F-box and WD repeat domain containing 10							46.0	47.0	47.0					17																	18651256		2201	4298	6499	SO:0001583	missense	10517							g.chr17:18651256C>T	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.508C>T	17.37:g.18651256C>T	ENSP00000379025:p.Leu170Phe					FBXW10_ENST00000395667.1_Missense_Mutation_p.L170F|FBXW10_ENST00000395665.4_Missense_Mutation_p.L170F|FBXW10_ENST00000301938.4_Missense_Mutation_p.L170F	p.L170F			Q5XX13	FBW10_HUMAN			2	727	+			170					C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	37	c.508C>T	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	C	5.028	0.190869	0.09547	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	2.08	-0.15	0.13416	WD40/YVTN repeat-like-containing domain (1);	0.137344	0.46758	U	0.000261	T	0.19366	0.0465	L	0.54323	1.7	0.09310	N	1	B;B;B;B	0.20671	0.021;0.021;0.022;0.047	B;B;B;B	0.18263	0.021;0.021;0.018;0.021	T	0.17806	-1.0357	10	0.14656	T	0.56	.	2.4718	0.04566	0.2903:0.5287:0.0:0.1809	.	170;170;170;170	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	F	170	ENSP00000379026:L170F;ENSP00000310382:L170F;ENSP00000306937:L170F;ENSP00000379025:L170F	ENSP00000306937:L170F	L	+	1	0	FBXW10	18591981	0.000000	0.05858	0.001000	0.08648	0.122000	0.20287	-0.341000	0.07811	0.000000	0.14550	0.405000	0.27470	CTC		0.443	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456		7	63	7	63	---	---	---	---
GOSR1	9527	broad.mit.edu	37	17	28808252	28808252	+	Missense_Mutation	SNP	T	T	A			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr17:28808252T>A	ENST00000225724.5	+	2	195	c.123T>A	c.(121-123)agT>agA	p.S41R	GOSR1_ENST00000581721.1_Missense_Mutation_p.S41R|GOSR1_ENST00000579905.1_3'UTR|GOSR1_ENST00000467337.2_5'UTR|GOSR1_ENST00000451249.2_Missense_Mutation_p.S41R	NM_001007024.1|NM_001007025.1|NM_004871.2	NP_001007025.1|NP_001007026.1|NP_004862.1	O95249	GOSR1_HUMAN	golgi SNAP receptor complex member 1	41					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						GTCATAGCAGTACCCGAGATG	0.373																																						ENST00000225724.5																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						c.(121-123)agT>agA		golgi SNAP receptor complex member 1							110.0	109.0	109.0					17																	28808252		2203	4300	6503	SO:0001583	missense	9527				intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|SNARE complex	SNAP receptor activity	g.chr17:28808252T>A	AF047438	CCDS11258.1, CCDS45643.1, CCDS45644.1	17q11	2011-04-15			ENSG00000108587	ENSG00000108587			4430	protein-coding gene	gene with protein product	"""golgi integral membrane protein 2"""	604026				8638159, 9653160, 15004235	Standard	XM_005258072		Approved	GOS28, P28, GS28, GOS-28, GOLIM2	uc002hfe.3	O95249	OTTHUMG00000132796	ENST00000225724.5:c.123T>A	17.37:g.28808252T>A	ENSP00000225724:p.Ser41Arg					GOSR1_ENST00000467337.2_5'UTR|GOSR1_ENST00000579905.1_3'UTR|GOSR1_ENST00000581721.1_Missense_Mutation_p.S41R|GOSR1_ENST00000451249.2_Missense_Mutation_p.S41R	p.S41R	NM_001007024.1|NM_001007025.1|NM_004871.2	NP_001007025.1|NP_001007026.1|NP_004862.1	O95249	GOSR1_HUMAN			2	195	+			41					J3KST5|O75392	Missense_Mutation	SNP	ENST00000225724.5	37	c.123T>A	CCDS11258.1	.	.	.	.	.	.	.	.	.	.	T	14.75	2.628679	0.46944	.	.	ENSG00000108587	ENST00000225724;ENST00000451249;ENST00000427274;ENST00000537788	.	.	.	5.83	3.59	0.41128	.	0.197717	0.64402	D	0.000007	T	0.48241	0.1489	L	0.56769	1.78	0.42835	D	0.994039	B;B;B	0.23249	0.0;0.0;0.082	B;B;B	0.20577	0.003;0.002;0.03	T	0.32798	-0.9893	9	0.24483	T	0.36	-3.1248	7.2851	0.26333	0.0:0.4174:0.0:0.5826	.	41;41;41	O95249;E9PCW1;Q96QI9	GOSR1_HUMAN;.;.	R	41	.	ENSP00000225724:S41R	S	+	3	2	GOSR1	25832378	0.395000	0.25254	0.670000	0.29842	0.967000	0.64934	0.701000	0.25616	0.477000	0.27464	0.459000	0.35465	AGT		0.373	GOSR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256208.2			23	82	23	82	---	---	---	---
SP2	6668	broad.mit.edu	37	17	46002397	46002397	+	Silent	SNP	G	G	A			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr17:46002397G>A	ENST00000376741.4	+	5	1622	c.1485G>A	c.(1483-1485)caG>caA	p.Q495Q	AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000411573.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	495					cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						GAGAGACCCAGCCCGGGGAGA	0.602																																						ENST00000376741.4																			0				endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						c.(1483-1485)caG>caA		Sp2 transcription factor							43.0	47.0	45.0					17																	46002397		2203	4300	6503	SO:0001819	synonymous_variant	6668				immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding	g.chr17:46002397G>A		CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11207	protein-coding gene	gene with protein product		601801				1341900, 9730617	Standard	NM_003110		Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.1485G>A	17.37:g.46002397G>A						AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000411573.2_RNA	p.Q495Q	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN			5	1622	+			495					A6NK74	Silent	SNP	ENST00000376741.4	37	c.1485G>A	CCDS11521.2																																																																																				0.602	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316777.1	NM_003110		13	39	13	39	---	---	---	---
LILRA6	79168	broad.mit.edu	37	19	54745451	54745451	+	Splice_Site	SNP	C	C	A			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr19:54745451C>A	ENST00000396365.2	-	4	698		c.e4+1		LILRA6_ENST00000270464.5_Splice_Site|LILRA6_ENST00000245621.5_Splice_Site|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000440558.2_Splice_Site|LILRA6_ENST00000419410.2_Splice_Site|LILRB3_ENST00000407860.2_Intron	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6						immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGCTCCCTCACCTGAGGGCAG	0.572																																						ENST00000440558.2																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38						c.e4+1		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6							36.0	40.0	39.0					19																	54745451		1646	3666	5312	SO:0001630	splice_region_variant	79168							g.chr19:54745451C>A	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.658+1G>T	19.37:g.54745451C>A						LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Splice_Site|LILRA6_ENST00000245621.5_Splice_Site|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000396365.2_Splice_Site|LILRA6_ENST00000270464.5_Splice_Site							GBM - Glioblastoma multiforme(193;0.105)	4	707	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)								Splice_Site	SNP	ENST00000396365.2	37		CCDS42610.1	.	.	.	.	.	.	.	.	.	.	c	10.29	1.308140	0.23821	.	.	ENSG00000244482	ENST00000440558;ENST00000270464;ENST00000419410;ENST00000421123;ENST00000396365;ENST00000245621	.	.	.	2.38	2.38	0.29361	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.3675	0.32395	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LILRA6	59437263	0.541000	0.26417	0.809000	0.32408	0.151000	0.21798	1.469000	0.35343	1.656000	0.50722	0.162000	0.16502	.		0.572	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318	Intron	14	41	14	41	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11039424	11039424	+	RNA	SNP	T	T	A			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr21:11039424T>A	ENST00000470054.1	-	0	779							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCCAATTCGGTATTCACTGTA	0.279																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11039424T>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11039424T>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	779	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.279	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	110	4	110	---	---	---	---
ASXL2	55252	broad.mit.edu	37	2	25972970	25972979	+	Frame_Shift_Del	DEL	ATCCTTTGGG	ATCCTTTGGG	-	rs539459100	byFrequency	TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr2:25972970_25972979delATCCTTTGGG	ENST00000435504.4	-	12	1739_1748	c.1446_1455delCCCAAAGGAT	c.(1444-1455)tgcccaaaggatfs	p.CPKD482fs	ASXL2_ENST00000272341.4_Frame_Shift_Del_p.CPKD222fs|ASXL2_ENST00000336112.4_Frame_Shift_Del_p.CPKD454fs|ASXL2_ENST00000404843.1_Frame_Shift_Del_p.CPKD222fs			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	482					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAGATCCTCATCCTTTGGGCACTTGATGG	0.481																																						ENST00000435504.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33						c.(1444-1455)tgcccaaaggatfs		additional sex combs like 2 (Drosophila)																																				SO:0001589	frameshift_variant	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25972970_25972979delATCCTTTGGG			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.1446_1455delCCCAAAGGAT	2.37:g.25972970_25972979delATCCTTTGGG	ENSP00000391447:p.Cys482fs					ASXL2_ENST00000336112.4_Frame_Shift_Del_p.CPKD454fs|ASXL2_ENST00000272341.4_Frame_Shift_Del_p.CPKD222fs|ASXL2_ENST00000404843.1_Frame_Shift_Del_p.CPKD222fs	p.CPKD482fs			Q76L83	ASXL2_HUMAN			12	1739_1748	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		482					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Frame_Shift_Del	DEL	ENST00000435504.4	37	c.1446_1455delCCCAAAGGAT																																																																																					0.481	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		29	110	29	110	---	---	---	---
GBA3	57733	broad.mit.edu	37	4	22737844	22737845	+	RNA	INS	-	-	A			TCGA-YL-A8SC-01A-11D-A377-08	TCGA-YL-A8SC-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30cbe211-6ed8-49bd-b2da-428fd8c90f37	55773b06-5d25-4338-a0b2-943b79062d10	g.chr4:22737844_22737845insA	ENST00000503442.1	+	0	377				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.2_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AAGTGTTTCTTAAAAATAGAAG	0.396																																						ENST00000511446.2																			0				breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33								glucosidase, beta, acid 3 (gene/pseudogene)																																						57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22737844_22737845insA	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22737849_22737849dupA						GBA3_ENST00000503442.1_RNA|GBA3_ENST00000508166.1_RNA		NM_001277225.1	NP_001264154.1	Q9H227	GBA3_HUMAN			0	290	+								Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	RNA	INS	ENST00000503442.1	37																																																																																						0.396	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			7	78	7	78	---	---	---	---
