#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
PPP1R8	5511	broad.mit.edu	37	1	28159280	28159280	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr1:28159280C>A	ENST00000311772.5	+	2	128	c.70C>A	c.(70-72)Cct>Act	p.P24T	PPP1R8_ENST00000236412.7_5'UTR|PPP1R8_ENST00000373931.4_5'UTR|SCARNA1_ENST00000517138.1_RNA	NM_014110.4	NP_054829.2	Q12972	PP1R8_HUMAN	protein phosphatase 1, regulatory subunit 8	24	Interaction with CDC5L, SF3B1 and MELK.				cell proliferation (GO:0008283)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|protein phosphatase type 1 regulator activity (GO:0008599)|protein serine/threonine phosphatase inhibitor activity (GO:0004865)|ribonuclease E activity (GO:0008995)|RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		AGGTAAGCCCCCTCCCGGTTT	0.378																																						ENST00000311772.5																			0				breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	8						c.(70-72)Cct>Act		protein phosphatase 1, regulatory subunit 8							61.0	67.0	65.0					1																	28159280		2203	4300	6503	SO:0001583	missense	5511				mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|RNA splicing|transcription, DNA-dependent	cytoplasm|nuclear speck|spliceosomal complex	DNA binding|endonuclease activity|protein binding|protein serine/threonine phosphatase inhibitor activity|ribonuclease E activity|RNA binding	g.chr1:28159280C>A	AF061959	CCDS311.1, CCDS312.1, CCDS313.1	1p35.3	2012-04-17	2011-10-04		ENSG00000117751	ENSG00000117751		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9296	protein-coding gene	gene with protein product	"""RNase E"", ""nuclear subunit of PP-1"", ""nuclear inhibitor of protein phosphatase-1"", ""activator of RNA decay"", ""protein phosphatase 1 regulatory subunit 8"""	602636	"""protein phosphatase 1, regulatory (inhibitor) subunit 8"""			7524097, 8473324	Standard	NM_014110		Approved	ard-1, NIPP-1, PRO2047, ARD1, NIPP1	uc001bov.2	Q12972	OTTHUMG00000003734	ENST00000311772.5:c.70C>A	1.37:g.28159280C>A	ENSP00000311677:p.Pro24Thr		Somatic				PPP1R8_ENST00000373931.4_5'UTR|PPP1R8_ENST00000236412.7_5'UTR	p.P24T	NM_014110.4	NP_054829.2	WXS	Illumina GAIIx	Phase_I	Q12972	PP1R8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)	2	128	+		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	24			Interaction with CDC5L, SF3B1 and MELK.		Q5TEJ2|Q5TEJ4|Q5TIF2|Q6PKF6|Q9UBH1|Q9UBZ0	Missense_Mutation	SNP	ENST00000311772.5	37	c.70C>A	CCDS311.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.206764	0.79127	.	.	ENSG00000117751	ENST00000311772;ENST00000434313	T	0.38077	1.16	5.77	5.77	0.91146	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	T	0.37972	0.1023	L	0.54323	1.7	0.80722	D	1	P	0.34815	0.47	B	0.32342	0.144	T	0.10359	-1.0633	10	0.36615	T	0.2	-7.479	20.3627	0.98863	0.0:1.0:0.0:0.0	.	24	Q12972	PP1R8_HUMAN	T	24	ENSP00000311677:P24T	ENSP00000311677:P24T	P	+	1	0	PPP1R8	28031867	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.168000	0.77570	2.885000	0.99019	0.655000	0.94253	CCT		0.378	PPP1R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010528.1	NM_014110		4	52	4	52	---	---	---	---
THRAP3	9967	broad.mit.edu	37	1	36755264	36755264	+	Silent	SNP	G	G	T			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr1:36755264G>T	ENST00000354618.5	+	5	1868	c.1644G>T	c.(1642-1644)ctG>ctT	p.L548L	THRAP3_ENST00000469141.2_Silent_p.L548L	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	548	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAGACAAGCTGGGAGCGAAAG	0.498			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	ENST00000354618.5				Dom	yes		1	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)			M	USP6		aneurysmal bone cysts		0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37						c.(1642-1644)ctG>ctT		thyroid hormone receptor associated protein 3							89.0	95.0	93.0					1																	36755264		2203	4300	6503	SO:0001819	synonymous_variant	9967				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr1:36755264G>T	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.1644G>T	1.37:g.36755264G>T			Somatic				THRAP3_ENST00000469141.2_Silent_p.L548L	p.L548L	NM_005119.3	NP_005110.2	WXS	Illumina GAIIx	Phase_I	Q9Y2W1	TR150_HUMAN			5	1868	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	548					D3DPS5|Q5VTK6	Silent	SNP	ENST00000354618.5	37	c.1644G>T	CCDS405.1																																																																																				0.498	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		5	141	5	141	---	---	---	---
RBM15	64783	broad.mit.edu	37	1	110882203	110882203	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr1:110882203G>A	ENST00000369784.3	+	1	1076	c.176G>A	c.(175-177)cGt>cAt	p.R59H	RBM15_ENST00000487146.2_Missense_Mutation_p.R59H|RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000602849.1_Missense_Mutation_p.R59H	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	59					negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		AAACGCTCCCGTGGTGGTGAG	0.647			T	MKL1	acute megakaryocytic leukemia																																	ENST00000369784.3				Dom	yes		1	1p13	64783	T	RNA binding motif protein 15			L	MKL1		acute megakaryocytic leukemia		0				ovary(3)	3						c.(175-177)cGt>cAt		RNA binding motif protein 15							38.0	40.0	39.0					1																	110882203		2203	4300	6503	SO:0001583	missense	64783				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:110882203G>A	AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.176G>A	1.37:g.110882203G>A	ENSP00000358799:p.Arg59His		Somatic				RBM15_ENST00000602849.1_Missense_Mutation_p.R59H|RBM15_ENST00000487146.2_Missense_Mutation_p.R59H	p.R59H	NM_022768.4	NP_073605.4	WXS	Illumina GAIIx	Phase_I	Q96T37	RBM15_HUMAN		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	1076	+		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)	59					A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Missense_Mutation	SNP	ENST00000369784.3	37	c.176G>A	CCDS822.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.779677	0.90195	.	.	ENSG00000162775	ENST00000369784	T	0.29655	1.56	5.3	5.3	0.74995	.	0.000000	0.46442	D	0.000292	T	0.39517	0.1081	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	T	0.29274	-1.0017	10	0.87932	D	0	-9.0784	18.7341	0.91748	0.0:0.0:1.0:0.0	.	59;59	Q96T37-3;Q96T37	.;RBM15_HUMAN	H	59	ENSP00000358799:R59H	ENSP00000358799:R59H	R	+	2	0	RBM15	110683726	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.599000	0.90856	2.759000	0.94783	0.650000	0.86243	CGT		0.647	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768		4	59	4	59	---	---	---	---
INSRR	3645	broad.mit.edu	37	1	156819189	156819189	+	Silent	SNP	C	C	A	rs371631913		TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr1:156819189C>A	ENST00000368195.3	-	6	1689	c.1293G>T	c.(1291-1293)gcG>gcT	p.A431A	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	431					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGGTGAGCCCCGCGGCCACCC	0.622																																						ENST00000368195.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1291-1293)gcG>gcT		insulin receptor-related receptor							96.0	99.0	98.0					1																	156819189		2203	4300	6503	SO:0001819	synonymous_variant	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156819189C>A	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.1293G>T	1.37:g.156819189C>A			Somatic				NTRK1_ENST00000392302.2_Intron	p.A431A	NM_014215.2	NP_055030.1	WXS	Illumina GAIIx	Phase_I	P14616	INSRR_HUMAN			6	1689	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		431					O60724|Q5VZS3	Silent	SNP	ENST00000368195.3	37	c.1293G>T	CCDS1160.1																																																																																				0.622	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		4	155	4	155	---	---	---	---
CD1B	910	broad.mit.edu	37	1	158299162	158299162	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr1:158299162C>A	ENST00000368168.3	-	4	991	c.884G>T	c.(883-885)tGg>tTg	p.W295L		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	295	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)		p.W295L(1)		breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					TTTCTTACTCCAGTAGAGGAT	0.552																																						ENST00000368168.3																			1	Substitution - Missense(1)	p.W295L(1)	ovary(1)	breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30						c.(883-885)tGg>tTg		CD1b molecule							56.0	57.0	57.0					1																	158299162		2203	4300	6503	SO:0001583	missense	910				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	g.chr1:158299162C>A	M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1635	protein-coding gene	gene with protein product		188360	"""CD1B antigen, b polypeptide"", ""CD1b antigen"""	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.884G>T	1.37:g.158299162C>A	ENSP00000357150:p.Trp295Leu		Somatic					p.W295L	NM_001764.2	NP_001755.1	WXS	Illumina GAIIx	Phase_I	P29016	CD1B_HUMAN			4	991	-	all_hematologic(112;0.0378)		295			Ig-like.		Q5TDK9|Q5TDL0|Q9UMM2	Missense_Mutation	SNP	ENST00000368168.3	37	c.884G>T	CCDS1176.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.698551	0.30142	.	.	ENSG00000158485	ENST00000368168	T	0.13778	2.56	4.26	3.33	0.38152	MHC class I-like antigen recognition (1);	0.204806	0.24886	N	0.034813	T	0.22322	0.0538	H	0.96365	3.81	0.36075	D	0.842387	D	0.58970	0.984	P	0.47744	0.556	T	0.36089	-0.9762	10	0.87932	D	0	-5.9007	9.4821	0.38906	0.2116:0.7884:0.0:0.0	.	295	P29016	CD1B_HUMAN	L	295	ENSP00000357150:W295L	ENSP00000357150:W295L	W	-	2	0	CD1B	156565786	1.000000	0.71417	0.998000	0.56505	0.125000	0.20455	3.174000	0.50847	1.119000	0.41883	-0.181000	0.13052	TGG		0.552	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764		4	97	4	97	---	---	---	---
LY9	4063	broad.mit.edu	37	1	160769618	160769618	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr1:160769618T>C	ENST00000263285.6	+	2	230	c.200T>C	c.(199-201)cTa>cCa	p.L67P	LY9_ENST00000368037.5_Missense_Mutation_p.L67P|LY9_ENST00000341032.4_Missense_Mutation_p.L67P|LY9_ENST00000368041.2_Missense_Mutation_p.L27P|LY9_ENST00000368039.2_Missense_Mutation_p.L67P|LY9_ENST00000392203.4_Missense_Mutation_p.L67P|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000471816.1_3'UTR			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	67	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ACTCTCCCCCTAAACATCTCA	0.498																																						ENST00000368037.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(199-201)cTa>cCa		lymphocyte antigen 9							83.0	80.0	81.0					1																	160769618		2203	4300	6503	SO:0001583	missense	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160769618T>C	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.200T>C	1.37:g.160769618T>C	ENSP00000263285:p.Leu67Pro		Somatic				LY9_ENST00000341032.4_Missense_Mutation_p.L67P|LY9_ENST00000263285.6_Missense_Mutation_p.L67P|LY9_ENST00000392203.4_Missense_Mutation_p.L67P|LY9_ENST00000368039.2_Missense_Mutation_p.L67P|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000368041.2_Missense_Mutation_p.L27P|LY9_ENST00000471816.1_3'UTR	p.L67P	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	WXS	Illumina GAIIx	Phase_I	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		2	314	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)					Ig-like V-type 1.		A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	ENST00000263285.6	37	c.200T>C	CCDS30916.1	.	.	.	.	.	.	.	.	.	.	T	14.96	2.691598	0.48097	.	.	ENSG00000122224	ENST00000368041;ENST00000341032;ENST00000263285;ENST00000542780;ENST00000368039;ENST00000392203;ENST00000368037	T;T;T;T	0.65732	1.8;1.93;1.93;-0.17	4.04	2.8	0.32819	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.567247	0.15645	N	0.251692	T	0.69278	0.3093	M	0.85859	2.78	0.19300	N	0.99997	D;D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999;1.0	D;D;D;D;D;D	0.91635	0.999;0.996;0.995;0.998;0.997;0.999	T	0.57802	-0.7748	10	0.87932	D	0	-9.69	6.2039	0.20591	0.2242:0.0:0.0:0.7758	.	67;27;67;67;67;67	B4E0J5;Q5VYH9;E7EME5;Q9HBG7-2;Q9HBG7;Q6P2J4	.;.;.;.;LY9_HUMAN;.	P	67;67;67;67;67;27;27	ENSP00000357020:L67P;ENSP00000342921:L67P;ENSP00000263285:L67P;ENSP00000357018:L67P	ENSP00000263285:L67P	L	+	2	0	LY9	159036242	0.010000	0.17322	0.021000	0.16686	0.141000	0.21300	1.869000	0.39519	1.805000	0.52779	0.460000	0.39030	CTA		0.498	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348		3	76	3	76	---	---	---	---
EPHA6	285220	broad.mit.edu	37	3	96533589	96533589	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr3:96533589C>A	ENST00000389672.5	+	1	160	c.122C>A	c.(121-123)tCg>tAg	p.S41*	EPHA6_ENST00000470610.2_Nonsense_Mutation_p.S41*|EPHA6_ENST00000542517.1_5'Flank	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	0	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CCCGGGACCTCGCGCAGGGGG	0.716																																						ENST00000389672.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						c.(121-123)tCg>tAg		EPH receptor A6							9.0	12.0	11.0					3																	96533589		1897	4100	5997	SO:0001587	stop_gained	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:96533589C>A	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.122C>A	3.37:g.96533589C>A	ENSP00000374323:p.Ser41*		Somatic				EPHA6_ENST00000470610.2_Nonsense_Mutation_p.S41*	p.S41*	NM_001080448.2	NP_001073917.2	WXS	Illumina GAIIx	Phase_I	Q9UF33	EPHA6_HUMAN			1	160	+			0			Ephrin-binding.		D6RAL5	Nonsense_Mutation	SNP	ENST00000389672.5	37	c.122C>A	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	C	39	7.450899	0.98292	.	.	ENSG00000080224	ENST00000470610;ENST00000389672	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.676	0.62454	0.0:1.0:0.0:0.0	.	.	.	.	X	41	.	ENSP00000374323:S41X	S	+	2	0	EPHA6	98016279	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.397000	0.34543	2.268000	0.75426	0.585000	0.79938	TCG		0.716	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		3	36	3	36	---	---	---	---
ADRB2	154	broad.mit.edu	37	5	148206902	148206902	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr5:148206902C>A	ENST00000305988.4	+	1	747	c.508C>A	c.(508-510)Cag>Aag	p.Q170K		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	170					activation of adenylate cyclase activity (GO:0007190)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|bone resorption (GO:0045453)|brown fat cell differentiation (GO:0050873)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|diet induced thermogenesis (GO:0002024)|endosome to lysosome transport (GO:0008333)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor-mediated endocytosis (GO:0006898)|regulation of sodium ion transport (GO:0002028)|regulation of vasodilation (GO:0042312)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	beta2-adrenergic receptor activity (GO:0004941)|norepinephrine binding (GO:0051380)|potassium channel regulator activity (GO:0015459)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Acebutolol(DB01193)|Alprenolol(DB00866)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Arformoterol(DB01274)|Asenapine(DB06216)|Atenolol(DB00335)|Bambuterol(DB01408)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dipivefrin(DB00449)|Dobutamine(DB00841)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Indacaterol(DB05039)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenoxybenzamine(DB00925)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Sotalol(DB00489)|Terbutaline(DB00871)|Timolol(DB00373)|Trimipramine(DB00726)	CTTGCCCATTCAGATGCACTG	0.527																																						ENST00000305988.4																			0				endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14						c.(508-510)Cag>Aag		adrenoceptor beta 2, surface	Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)						170.0	155.0	160.0					5																	148206902		2203	4300	6503	SO:0001583	missense	154				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity	g.chr5:148206902C>A	AF022953	CCDS4292.1	5q31-q32	2012-08-08	2012-05-09		ENSG00000169252	ENSG00000169252		"""GPCR / Class A : Adrenoceptors : beta"""	286	protein-coding gene	gene with protein product		109690	"""adrenergic, beta-2-, receptor, surface"""	ADRB2R			Standard	NM_000024		Approved	ADRBR, BAR, B2AR	uc003lpr.2	P07550	OTTHUMG00000129933	ENST00000305988.4:c.508C>A	5.37:g.148206902C>A	ENSP00000305372:p.Gln170Lys		Somatic					p.Q170K	NM_000024.5	NP_000015	WXS	Illumina GAIIx	Phase_I	P07550	ADRB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	747	+			170					B0LPE4|B2R7X2|O14823|O14824|O14825|O14826|Q4JG18|Q53GA6|Q6GMT4|Q6P4D8|Q8NEQ9|Q96EC3|Q9UCZ0|Q9UCZ1|Q9UCZ2|Q9UCZ3|Q9UH95|Q9UHA1|Q9UMZ5	Missense_Mutation	SNP	ENST00000305988.4	37	c.508C>A	CCDS4292.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.462500	0.26248	.	.	ENSG00000169252	ENST00000305988	T	0.71817	-0.6	5.65	4.77	0.60923	GPCR, rhodopsin-like superfamily (1);	0.170714	0.52532	N	0.000068	T	0.59756	0.2217	L	0.42686	1.345	0.39044	D	0.960193	B	0.06786	0.001	B	0.04013	0.001	T	0.56974	-0.7890	10	0.27785	T	0.31	.	9.492	0.38965	0.144:0.7858:0.0:0.0702	.	170	P07550	ADRB2_HUMAN	K	170	ENSP00000305372:Q170K	ENSP00000305372:Q170K	Q	+	1	0	ADRB2	148187095	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.048000	0.41278	1.595000	0.50050	0.655000	0.94253	CAG		0.527	ADRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252189.1	NM_000024		6	162	6	162	---	---	---	---
AGTPBP1	23287	broad.mit.edu	37	9	88211351	88211351	+	Silent	SNP	G	G	T			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr9:88211351G>T	ENST00000357081.3	-	18	2493	c.2349C>A	c.(2347-2349)ctC>ctA	p.L783L	AGTPBP1_ENST00000376109.3_Silent_p.L795L|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376083.3_Silent_p.L743L			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	783					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						CCGAATACATGAGTGGTTGCA	0.308																																						ENST00000357081.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						c.(2347-2349)ctC>ctA		ATP/GTP binding protein 1							61.0	59.0	59.0					9																	88211351		2203	4300	6503	SO:0001819	synonymous_variant	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88211351G>T	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.2349C>A	9.37:g.88211351G>T			Somatic				AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376109.3_Silent_p.L795L|AGTPBP1_ENST00000376083.3_Silent_p.L743L	p.L783L			WXS	Illumina GAIIx	Phase_I	Q9UPW5	CBPC1_HUMAN			18	2493	-			783					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Silent	SNP	ENST00000357081.3	37	c.2349C>A																																																																																					0.308	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		4	39	4	39	---	---	---	---
NTNG2	84628	broad.mit.edu	37	9	135073491	135073491	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr9:135073491C>A	ENST00000393229.3	+	3	1128	c.352C>A	c.(352-354)Ccg>Acg	p.P118T	NTNG2_ENST00000360670.3_Missense_Mutation_p.P118T|NTNG2_ENST00000372179.3_Missense_Mutation_p.P118T|NTNG2_ENST00000393228.4_Missense_Mutation_p.P118T	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	118	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CTACCCCAGCCCGCTGGAAGC	0.647																																						ENST00000393229.3																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(352-354)Ccg>Acg		netrin G2							78.0	68.0	71.0					9																	135073491		2203	4300	6503	SO:0001583	missense	84628				axonogenesis	anchored to plasma membrane		g.chr9:135073491C>A	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.352C>A	9.37:g.135073491C>A	ENSP00000376921:p.Pro118Thr		Somatic				NTNG2_ENST00000393228.4_Missense_Mutation_p.P118T|NTNG2_ENST00000360670.3_Missense_Mutation_p.P118T|NTNG2_ENST00000372179.3_Missense_Mutation_p.P118T	p.P118T	NM_032536.2	NP_115925.2	WXS	Illumina GAIIx	Phase_I	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	3	1128	+			118			Laminin N-terminal.		Q5JUJ2|Q6UXY0|Q96JH0	Missense_Mutation	SNP	ENST00000393229.3	37	c.352C>A	CCDS6946.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.208388	0.79240	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670;ENST00000372179	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	5.13	5.13	0.70059	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.86789	0.6017	M	0.84082	2.675	0.58432	D	0.999994	D	0.89917	1.0	D	0.87578	0.998	D	0.85812	0.1380	10	0.31617	T	0.26	.	17.567	0.87922	0.0:1.0:0.0:0.0	.	118	Q96CW9	NTNG2_HUMAN	T	118	ENSP00000376921:P118T;ENSP00000376920:P118T;ENSP00000353888:P118T;ENSP00000361252:P118T	ENSP00000353888:P118T	P	+	1	0	NTNG2	134063312	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.777000	0.85628	2.381000	0.81170	0.561000	0.74099	CCG		0.647	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		4	78	4	78	---	---	---	---
CTNNA3	29119	broad.mit.edu	37	10	68526133	68526133	+	Silent	SNP	C	C	A			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr10:68526133C>A	ENST00000433211.2	-	9	1344	c.1170G>T	c.(1168-1170)ctG>ctT	p.L390L	CTNNA3_ENST00000373744.4_Silent_p.L390L	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CTGTCGTATCCAGGAAAGAGT	0.398																																						ENST00000433211.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						c.(1168-1170)ctG>ctT		catenin (cadherin-associated protein), alpha 3							137.0	132.0	134.0					10																	68526133		2203	4300	6503	SO:0001819	synonymous_variant	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:68526133C>A	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1170G>T	10.37:g.68526133C>A			Somatic				CTNNA3_ENST00000373744.4_Silent_p.L390L	p.L390L	NM_013266.2	NP_037398.2	WXS	Illumina GAIIx	Phase_I	Q9UI47	CTNA3_HUMAN			9	1344	-									Silent	SNP	ENST00000433211.2	37	c.1170G>T	CCDS7269.1																																																																																				0.398	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		4	107	4	107	---	---	---	---
PANK1	53354	broad.mit.edu	37	10	91404822	91404822	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr10:91404822C>A	ENST00000307534.4	-	1	393	c.238G>T	c.(238-240)Ggg>Tgg	p.G80W	RP11-80H5.2_ENST00000454174.1_RNA|PANK1_ENST00000371774.2_5'Flank|RP11-80H5.2_ENST00000451733.1_RNA|PANK1_ENST00000488482.1_5'Flank|PANK1_ENST00000322191.6_5'Flank|RP11-80H5.6_ENST00000428166.1_lincRNA|PANK1_ENST00000342512.3_5'Flank	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	80					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell periphery (GO:0071944)|clathrin coat (GO:0030118)|cytosol (GO:0005829)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						GCCGACTCCCCCACCTCCTCT	0.771																																						ENST00000307534.4																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						c.(238-240)Ggg>Tgg		pantothenate kinase 1	Bezafibrate(DB01393)						8.0	11.0	10.0					10																	91404822		1956	4107	6063	SO:0001583	missense	53354				coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity	g.chr10:91404822C>A	AF355198	CCDS7405.1, CCDS7406.1, CCDS31244.1	10q23.31	2008-05-14	2002-11-13	2002-11-15	ENSG00000152782	ENSG00000152782			8598	protein-coding gene	gene with protein product		606160	"""pantothenate kinase"""	PANK		11809413	Standard	NM_148977		Approved	MGC24596, PANK1a, PANK1b	uc001kgp.2	Q8TE04	OTTHUMG00000018718	ENST00000307534.4:c.238G>T	10.37:g.91404822C>A	ENSP00000302108:p.Gly80Trp		Somatic					p.G80W	NM_148977.2	NP_683878.1	WXS	Illumina GAIIx	Phase_I	Q8TE04	PANK1_HUMAN			1	393	-			80					A6NIP0|Q7RTX6|Q7Z495|Q8TBQ8	Missense_Mutation	SNP	ENST00000307534.4	37	c.238G>T	CCDS31244.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.452174	0.26074	.	.	ENSG00000152782	ENST00000307534	D	0.99619	-6.28	4.29	-0.176	0.13311	.	0.140778	0.32901	N	0.005508	D	0.97526	0.9190	N	0.19112	0.55	0.22779	N	0.998746	D	0.54047	0.964	P	0.47626	0.552	D	0.95548	0.8618	10	0.87932	D	0	.	3.8875	0.09105	0.0:0.413:0.1801:0.4069	.	80	Q8TE04	PANK1_HUMAN	W	80	ENSP00000302108:G80W	ENSP00000302108:G80W	G	-	1	0	PANK1	91394802	0.008000	0.16893	0.025000	0.17156	0.002000	0.02628	0.090000	0.15025	0.094000	0.17404	-0.258000	0.10820	GGG		0.771	PANK1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				4	46	4	46	---	---	---	---
IQSEC3	440073	broad.mit.edu	37	12	247627	247627	+	Silent	SNP	C	C	A			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr12:247627C>A	ENST00000538872.1	+	4	1216	c.1098C>A	c.(1096-1098)gcC>gcA	p.A366A	IQSEC3_ENST00000326261.4_Silent_p.A366A|RP11-598F7.4_ENST00000508953.2_RNA|IQSEC3_ENST00000382841.2_Silent_p.A63A|RP11-598F7.4_ENST00000505893.2_RNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	366					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GCCTGGCGGCCGAGAAAGCGC	0.692																																						ENST00000538872.1																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1096-1098)gcC>gcA		IQ motif and Sec7 domain 3							16.0	17.0	17.0					12																	247627		2197	4296	6493	SO:0001819	synonymous_variant	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:247627C>A	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.1098C>A	12.37:g.247627C>A			Somatic				IQSEC3_ENST00000382841.2_Silent_p.A63A|RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_Silent_p.A366A	p.A366A			WXS	Illumina GAIIx	Phase_I	Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	4	1216	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		366					A6NIF2|A6NKV9|Q8TB43	Silent	SNP	ENST00000538872.1	37	c.1098C>A	CCDS53728.1																																																																																				0.692	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		3	18	3	18	---	---	---	---
CBLN3	643866	broad.mit.edu	37	14	24897522	24897522	+	Silent	SNP	C	C	A			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr14:24897522C>A	ENST00000267406.6	-	2	860	c.390G>T	c.(388-390)gtG>gtT	p.V130V	KHNYN_ENST00000556842.1_5'Flank|KHNYN_ENST00000251343.5_5'Flank|KHNYN_ENST00000553935.1_5'Flank|CBLN3_ENST00000555436.1_Silent_p.V79V	NM_001039771.2	NP_001034860.1	Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	130	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Necessary for interaction with CBLN3, and homotrimerization. {ECO:0000250}.					cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				central_nervous_system(1)|lung(3)	4				GBM - Glioblastoma multiforme(265;0.00159)		ACACCTTCACCACATGGAACC	0.652																																						ENST00000267406.6																			0				central_nervous_system(1)|lung(3)	4						c.(388-390)gtG>gtT		cerebellin 3 precursor							97.0	107.0	103.0					14																	24897522		2203	4300	6503	SO:0001819	synonymous_variant	643866					cell junction|extracellular region|synapse		g.chr14:24897522C>A	AY359070	CCDS32057.1	14q12	2006-12-13				ENSG00000139899			20146	protein-coding gene	gene with protein product		612978				12975309	Standard	NM_001039771		Approved		uc001wpg.4	Q6UW01		ENST00000267406.6:c.390G>T	14.37:g.24897522C>A			Somatic				CBLN3_ENST00000555436.1_Silent_p.V79V	p.V130V	NM_001039771.2	NP_001034860.1	WXS	Illumina GAIIx	Phase_I	Q6UW01	CBLN3_HUMAN		GBM - Glioblastoma multiforme(265;0.00159)	2	860	-			130			C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).			Silent	SNP	ENST00000267406.6	37	c.390G>T	CCDS32057.1																																																																																				0.652	CBLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412943.1	XM_115232		6	209	6	209	---	---	---	---
ZNF106	64397	broad.mit.edu	37	15	42740783	42740783	+	Silent	SNP	G	G	T			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr15:42740783G>T	ENST00000263805.4	-	3	2879	c.2553C>A	c.(2551-2553)tcC>tcA	p.S851S	ZNF106_ENST00000565380.1_Silent_p.S79S|ZNF106_ENST00000565611.1_Silent_p.S36S	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	851					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CCAAGCCAGGGGACGAGGAAA	0.488																																						ENST00000263805.4																			0											c.(2551-2553)tcC>tcA		zinc finger protein 106							60.0	56.0	57.0					15																	42740783		2203	4299	6502	SO:0001819	synonymous_variant	64397							g.chr15:42740783G>T	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.2553C>A	15.37:g.42740783G>T			Somatic				ZNF106_ENST00000565380.1_Silent_p.S79S|ZNF106_ENST00000565611.1_Silent_p.S36S	p.S851S	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	WXS	Illumina GAIIx	Phase_I					3	2879	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Silent	SNP	ENST00000263805.4	37	c.2553C>A	CCDS32208.1																																																																																				0.488	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		4	53	4	53	---	---	---	---
TMX3	54495	broad.mit.edu	37	18	66344377	66344377	+	Silent	SNP	C	C	A			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr18:66344377C>A	ENST00000299608.2	-	16	1474	c.1158G>T	c.(1156-1158)ctG>ctT	p.L386L		NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	386					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						TGATGACACCCAGTGGCAGGC	0.413																																						ENST00000299608.2																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(1156-1158)ctG>ctT		thioredoxin-related transmembrane protein 3							115.0	112.0	113.0					18																	66344377		2203	4300	6503	SO:0001819	synonymous_variant	54495				cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr18:66344377C>A	BX647846	CCDS32840.1	18q22	2011-10-19	2009-02-23	2009-02-23		ENSG00000166479		"""Protein disulfide isomerases"""	24718	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 13"""		"""thioredoxin domain containing 10"""	TXNDC10		15623505	Standard	NM_019022		Approved	FLJ20793, KIAA1830, PDIA13	uc002lkf.3	Q96JJ7		ENST00000299608.2:c.1158G>T	18.37:g.66344377C>A			Somatic					p.L386L	NM_019022.3	NP_061895.3	WXS	Illumina GAIIx	Phase_I	Q96JJ7	TMX3_HUMAN			16	1474	-			386					B3KV75|Q52LT7|Q8N5J0|Q9NWJ9	Silent	SNP	ENST00000299608.2	37	c.1158G>T	CCDS32840.1																																																																																				0.413	TMX3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420155.1	NM_019022		4	96	4	96	---	---	---	---
GATAD2A	54815	broad.mit.edu	37	19	19616251	19616251	+	Missense_Mutation	SNP	C	C	A	rs200707525	byFrequency	TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr19:19616251C>A	ENST00000360315.3	+	12	2182	c.1870C>A	c.(1870-1872)Cgc>Agc	p.R624S	GATAD2A_ENST00000429563.2_Missense_Mutation_p.R427S|GATAD2A_ENST00000404158.1_Missense_Mutation_p.R625S|GATAD2A_ENST00000252577.5_Missense_Mutation_p.R599S|GATAD2A_ENST00000358713.3_Missense_Mutation_p.R624S|GATAD2A_ENST00000537887.1_Missense_Mutation_p.R253S	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	624					anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						GATCCCACCCCGCTCCATCCC	0.667																																						ENST00000404158.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						c.(1873-1875)Cgc>Agc		GATA zinc finger domain containing 2A							87.0	76.0	79.0					19																	19616251		2203	4300	6503	SO:0001583	missense	54815				DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:19616251C>A	AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"""GATA zinc finger domain containing"""	29989	protein-coding gene	gene with protein product	"""p66 alpha"""	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.1870C>A	19.37:g.19616251C>A	ENSP00000353463:p.Arg624Ser		Somatic				GATAD2A_ENST00000429563.2_Missense_Mutation_p.R427S|GATAD2A_ENST00000358713.3_Missense_Mutation_p.R624S|GATAD2A_ENST00000252577.5_Missense_Mutation_p.R599S|GATAD2A_ENST00000360315.3_Missense_Mutation_p.R624S|GATAD2A_ENST00000537887.1_Missense_Mutation_p.R253S	p.R625S			WXS	Illumina GAIIx	Phase_I	Q86YP4	P66A_HUMAN			14	2291	+			624					B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Missense_Mutation	SNP	ENST00000360315.3	37	c.1873C>A	CCDS12402.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.8|28.8	4.949651|4.949651	0.92660|0.92660	.|.	.|.	ENSG00000167491|ENSG00000167491	ENST00000418032|ENST00000360315;ENST00000252577;ENST00000537887;ENST00000404158;ENST00000358713;ENST00000429563	.|T;T;T;T	.|0.56103	.|0.69;0.97;0.69;0.48	5.2|5.2	4.17|4.17	0.49024|0.49024	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69788|0.69788	0.3150|0.3150	M|M	0.71581|0.71581	2.175|2.175	0.49687|0.49687	D|D	0.999817|0.999817	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.87578	.|0.997;0.998;0.997	T|T	0.73244|0.73244	-0.4044|-0.4044	6|10	0.37606|0.87932	T|D	0.19|0	-27.983|-27.983	12.4985|12.4985	0.55942|0.55942	0.0:0.9187:0.0:0.0812|0.0:0.9187:0.0:0.0812	.|.	.|427;644;624	.|B4DKZ7;B5MC40;Q86YP4	.|.;.;P66A_HUMAN	Q|S	225|624;599;253;644;624;427	.|ENSP00000353463:R624S;ENSP00000252577:R599S;ENSP00000351552:R624S;ENSP00000388416:R427S	ENSP00000411869:P225Q|ENSP00000252577:R599S	P|R	+|+	2|1	0|0	GATAD2A|GATAD2A	19477251|19477251	1.000000|1.000000	0.71417|0.71417	0.941000|0.941000	0.38009|0.38009	0.988000|0.988000	0.76386|0.76386	4.804000|4.804000	0.62554|0.62554	1.218000|1.218000	0.43458|0.43458	0.558000|0.558000	0.71614|0.71614	CCG|CGC		0.667	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326671.4	NM_017660		4	134	4	134	---	---	---	---
ZSCAN1	284312	broad.mit.edu	37	19	58551895	58551895	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr19:58551895C>A	ENST00000282326.1	+	4	695	c.448C>A	c.(448-450)Cag>Aag	p.Q150K		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	150					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		TCCAAGGTCCCAGAAAGAACC	0.627																																						ENST00000282326.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(448-450)Cag>Aag		zinc finger and SCAN domain containing 1							93.0	100.0	98.0					19																	58551895		2203	4300	6503	SO:0001583	missense	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58551895C>A	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.448C>A	19.37:g.58551895C>A	ENSP00000282326:p.Gln150Lys		Somatic					p.Q150K	NM_182572.3	NP_872378.3	WXS	Illumina GAIIx	Phase_I	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	4	695	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	150					Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	c.448C>A	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	C	9.016	0.983634	0.18889	.	.	ENSG00000152467	ENST00000282326	T	0.03772	3.81	1.09	1.09	0.20402	.	.	.	.	.	T	0.02012	0.0063	N	0.19112	0.55	0.58432	D	0.999999	P	0.44090	0.826	B	0.34652	0.187	T	0.51356	-0.8716	9	0.06099	T	0.92	.	5.5387	0.17026	0.0:1.0:0.0:0.0	.	150	Q8NBB4	ZSCA1_HUMAN	K	150	ENSP00000282326:Q150K	ENSP00000282326:Q150K	Q	+	1	0	ZSCAN1	63243707	0.030000	0.19436	0.890000	0.34922	0.796000	0.44982	0.058000	0.14301	0.896000	0.36366	0.313000	0.20887	CAG		0.627	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		5	125	5	125	---	---	---	---
CYP2D7	1564	broad.mit.edu	37	22	42540342	42540342	+	RNA	SNP	C	C	A	rs529501439		TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr22:42540342C>A	ENST00000358097.4	-	0	208				CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000424775.1_RNA																endometrium(1)	1						TTGCCCAGCCCGGGCAGTGGC	0.642																																					GBM(91;329 1845 13264 22235)	ENST00000433992.1																			0				endometrium(1)	1																																														1564							g.chr22:42540342C>A																													22.37:g.42540342C>A			Somatic				CYP2D7P1_ENST00000358097.4_RNA				WXS	Illumina GAIIx	Phase_I					0	234	-									RNA	SNP	ENST00000358097.4	37			.	.	.	.	.	.	.	.	.	.	C	3.350	-0.132808	0.06711	.	.	ENSG00000205702	ENST00000428297;ENST00000354609	.	.	.	3.02	-0.313	0.12754	.	1.880760	0.02562	N	0.096886	T	0.36248	0.0960	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32561	-0.9902	6	0.72032	D	0.01	.	3.3572	0.07173	0.0:0.5216:0.2198:0.2586	.	.	.	.	W	42	.	ENSP00000442416:G42W	G	-	1	0	CYP2D7P1	40870286	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.187000	0.09656	0.022000	0.15160	-0.358000	0.07595	GGG		0.642	CYP2D7P1-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000075076.3			3	20	3	20	---	---	---	---
GATA1	2623	broad.mit.edu	37	X	48650528	48650528	+	Silent	SNP	T	T	C			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chrX:48650528T>C	ENST00000376670.3	+	3	609	c.498T>C	c.(496-498)ccT>ccC	p.P166P	GATA1_ENST00000376665.3_Silent_p.P166P	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	166					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.?(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						ATGGGGGCCCTGACTTTTCCA	0.582			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome																																Pancreas(9;429 505 11287 29617)	ENST00000376670.3				Dom	yes		X	Xp11.23	2623	"""Mis, F"""	GATA binding protein 1 (globin transcription factor 1)			L			megakaryoblastic leukemia of Downs Syndrome		2	Unknown(2)	p.?(2)	haematopoietic_and_lymphoid_tissue(2)	breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						c.(496-498)ccT>ccC		GATA binding protein 1 (globin transcription factor 1)							56.0	53.0	54.0					X																	48650528		2203	4300	6503	SO:0001819	synonymous_variant	2623				basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:48650528T>C	X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"""GATA zinc finger domain containing"""	4170	protein-coding gene	gene with protein product	"""nuclear factor, erythroid 1"""	305371	"""GATA-binding protein 1 (globin transcription factor 1)"""	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.498T>C	X.37:g.48650528T>C			Somatic				GATA1_ENST00000376665.3_Silent_p.P166P	p.P166P	NM_002049.3	NP_002040.1	WXS	Illumina GAIIx	Phase_I	P15976	GATA1_HUMAN			3	609	+			166					Q96GB8	Silent	SNP	ENST00000376670.3	37	c.498T>C	CCDS14305.1																																																																																				0.582	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056517.1	NM_002049		3	50	3	50	---	---	---	---
