#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_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_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_Description	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_AccessionNumbers	i_HGNC_CCDS IDs	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_Genefamilydescription	i_HGNC_HGNC ID	i_HGNC_HGNCID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_Name Synonyms	i_HGNC_NameSynonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_PubmedIDs	i_HGNC_Record Type	i_HGNC_RecordType	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGA IDs	i_HGNC_VEGAIDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	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_Region	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_init_n_lod	i_init_t_lod	i_n_alt_count	i_n_alt_count_full	i_n_ref_count	i_n_ref_count_full	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_lod_fstar	i_t_lod_fstar_full	i_t_ref_count_full	i_tumor_f_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	tumor_f
CEP95	90799	broad.mit.edu	37	17	62530713	62530713	+	Missense_Mutation	SNP	A	A	C	rs185494775		TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr17:62530713A>C	ENST00000556440.2	+	17	2438	c.1928A>C	c.(1927-1929)aAg>aCg	p.K643T	CEP95_ENST00000553412.1_Missense_Mutation_p.K479T	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	643						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						CAAGACTTCAAGGACTGCATT	0.438																																						ENST00000556440.2											0			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						c.(1927-1929)aAg>aCg	centrosomal protein 95kDa						74.0	73.0	74.0					17																	62530713		1935	4143	6078	SO:0001583	missense	90799				centrosome|spindle pole	protein binding	g.chr17:62530713A>C	AL832822	AL832822	CCDS45763.1	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890	ENSG00000258890	ENSG00000258890				25141	25141	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""coiled-coil domain containing 45"""	CCDC45	"""coiled-coil domain containing 45"""	CCDC45		21399614	21399614	Standard	Standard	NM_138363	NM_138363		Approved	DKFZp667E1824	uc002jem.3	uc002jem.3	Q96GE4	Q96GE4	OTTHUMG00000179174	OTTHUMG00000179174	ENST00000556440.2:c.1928A>C	17.37:g.62530713A>C	ENSP00000450461:p.Lys643Thr		CEP95_ENST00000553412.1_Missense_Mutation_p.K479T	p.K643T	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN			17	2438	+			643		B4DMD2|Q96M81	Missense_Mutation	SNP	ENST00000556440.2	37	c.1928A>C	CCDS45763.1	.	.	.	.	.	.	.	.	.	.	A	17.10	3.303703	0.60305	.	.	ENSG00000258890	ENST00000553956;ENST00000556440;ENST00000553412	T;T	0.45276	0.97;0.9	5.75	4.65	0.58169	5.75	4.65	0.58169	.	0.194559	0.53938	D	0.000058	T	0.49287	0.1548	M	0.62723	1.935	0.34727	D	0.729379	D;D	0.55800	0.973;0.973	P;P	0.51657	0.559;0.676	T	0.64723	-0.6340	10	0.72032	D	0.01	-10.2392	9.4469	0.38703	0.8611:0.0:0.1389:0.0	.	643;643	A8K3H2;Q96GE4	.;CEP95_HUMAN	T	578;643;479	ENSP00000450461:K643T;ENSP00000450906:K479T	ENSP00000438458:K578T	K	+	2	0	0	CEP95	59961175	59961175	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	1.783000	0.38664	1.057000	0.40506	0.528000	0.53228	AAG		0.438	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445100.2		23.393320	11	11	63	63	NM_138363		8	23.863304	23.863304	15	0.347826	0	0	0	1	0	8	15	0.347826
GPR87	53836	broad.mit.edu	37	3	151012731	151012731	+	Missense_Mutation	SNP	A	A	C			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr3:151012731A>C	ENST00000260843.4	-	3	767	c.303T>G	c.(301-303)gaT>gaG	p.D101E	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	101					negative regulation of adenylate cyclase activity (GO:0007194)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAAATCCTGCATCATGGACTA	0.383																																						ENST00000260843.4											0			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19						c.(301-303)gaT>gaG	G protein-coupled receptor 87						132.0	131.0	131.0					3																	151012731		2203	4300	6503	SO:0001583	missense	0				integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:151012731A>C	AF237763	AF237763	CCDS3157.1	CCDS3157.1	3q24	2012-08-21			2012-08-21			ENSG00000138271	ENSG00000138271	ENSG00000138271	ENSG00000138271		"""GPCR / Class A : Orphans"""	"""GPCR / Class A : Orphans"""	4538	4538	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606379	606379		GPR95		GPR95		11273702	11273702	Standard	Standard	NM_023915	NM_023915		Approved		uc003eyt.2	uc003eyt.2	Q9BY21	Q9BY21	OTTHUMG00000159858	OTTHUMG00000159858	ENST00000260843.4:c.303T>G	3.37:g.151012731A>C	ENSP00000260843:p.Asp101Glu		MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	p.D101E	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	767	-			101		Q5KU35|Q96JZ8|Q9BXC2	Missense_Mutation	SNP	ENST00000260843.4	37	c.303T>G	CCDS3157.1	.	.	.	.	.	.	.	.	.	.	A	16.95	3.263596	0.59431	.	.	ENSG00000138271	ENST00000260843	T	0.38240	1.15	5.31	-8.55	0.00908	5.31	-8.55	0.00908	GPCR, rhodopsin-like superfamily (1);	0.131721	0.49916	D	0.000132	T	0.38054	0.1026	M	0.80508	2.5	0.09310	N	0.99999	P	0.49447	0.924	P	0.47864	0.559	T	0.47262	-0.9131	10	0.23302	T	0.38	-4.0025	13.9406	0.64052	0.2591:0.0:0.6434:0.0975	.	101	Q9BY21	GPR87_HUMAN	E	101	ENSP00000260843:D101E	ENSP00000260843:D101E	D	-	3	2	2	GPR87	152495421	152495421	0.003000	0.15002	0.008000	0.14137	0.843000	0.47879	-0.922000	0.04004	-1.751000	0.01326	-0.290000	0.09829	GAT		0.383	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357788.1		63.218361	37	37	109	109			19	63.521761	63.521761	27	0.413043	0	0	0	1	0	19	27	0.413043
ASXL3	80816	broad.mit.edu	37	18	31323330	31323330	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr18:31323330C>T	ENST00000269197.5	+	12	3518	c.3518C>T	c.(3517-3519)gCc>gTc	p.A1173V		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1173					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AACAAGTCTGCCCACCTCCGG	0.443																																						ENST00000269197.5											0			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(3517-3519)gCc>gTc	additional sex combs like 3 (Drosophila)						46.0	45.0	45.0					18																	31323330		1921	4137	6058	SO:0001583	missense	80816			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31323330C>T	AB051500	AB051500	CCDS45847.1	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431		ENSG00000141431				29357	29357	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615115	615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	11214970	Standard	Standard	NM_030632	NM_030632		Approved		uc010dmg.1	uc010dmg.1	Q9C0F0	Q9C0F0			ENST00000269197.5:c.3518C>T	18.37:g.31323330C>T	ENSP00000269197:p.Ala1173Val			p.A1173V	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN			12	3518	+			1173		Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.3518C>T	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	9.525	1.109348	0.20714	.	.	ENSG00000141431	ENST00000269197	T	0.51574	0.7	5.38	1.57	0.23409	5.38	1.57	0.23409	.	2.345140	0.01510	N	0.017865	T	0.35711	0.0941	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.30937	-0.9961	10	0.41790	T	0.15	.	10.9295	0.47209	0.0:0.7583:0.0:0.2417	.	1173	Q9C0F0	ASXL3_HUMAN	V	1173	ENSP00000269197:A1173V	ENSP00000269197:A1173V	A	+	2	0	0	ASXL3	29577328	29577328	0.042000	0.20092	0.025000	0.17156	0.938000	0.57974	0.819000	0.27308	0.406000	0.25560	0.655000	0.94253	GCC		0.443	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2		27.672531	25	25	52	52			9	27.716102	27.716102	11	0.450000	0	0	0	1	0	9	11	0.45
USP49	25862	broad.mit.edu	37	6	41766669	41766669	+	Splice_Site	SNP	T	T	G			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr6:41766669T>G	ENST00000394253.3	-	6	2000		c.e6-2		USP49_ENST00000373009.3_Splice_Site|USP49_ENST00000373010.1_Splice_Site|USP49_ENST00000373006.1_Splice_Site|USP49_ENST00000297229.2_Splice_Site			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49						histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCAGACCACCTAGAACATGGA	0.413																																						ENST00000394253.3											1	Unknown(1)	endometrium(1)	breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23						c.e6-2	ubiquitin specific peptidase 49						71.0	64.0	67.0					6																	41766669		2203	4300	6503	SO:0001630	splice_region_variant	25862			ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:41766669T>G	AJ586139	AJ586139	CCDS4861.1, CCDS69111.1	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663	ENSG00000164663	ENSG00000164663		"""Ubiquitin-specific peptidases"""	"""Ubiquitin-specific peptidases"""	20078	20078	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""ubiquitin specific protease 49"""		"""ubiquitin specific protease 49"""			14715245	14715245	Standard	Standard	NM_018561	NM_018561		Approved	MGC20741	uc003ori.3	uc003ori.3	Q70CQ1	Q70CQ1	OTTHUMG00000014688	OTTHUMG00000014688	ENST00000394253.3:c.1671-2A>C	6.37:g.41766669T>G			USP49_ENST00000373009.3_Splice_Site|USP49_ENST00000373010.1_Splice_Site|USP49_ENST00000297229.2_Splice_Site|USP49_ENST00000373006.1_Splice_Site				Q70CQ1	UBP49_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		6	2000	-	Ovarian(28;0.0919)|Colorectal(47;0.121)				Q5T3D9|Q5T3E0|Q96CK4	Splice_Site	SNP	ENST00000394253.3	37			.	.	.	.	.	.	.	.	.	.	T	23.5	4.424080	0.83667	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	.	.	.	5.82	5.82	0.92795	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8428	0.78864	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	USP49	41874647	41874647	1.000000	0.71417	0.937000	0.37676	0.986000	0.74619	8.040000	0.89188	2.234000	0.73211	0.533000	0.62120	.		0.413	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3		-8.218775	-8	-8	69	69	NM_018561	Intron	6	7.055018	7.055018	75	0.074074	0	0	0	1	0	6	75	0.074074
SLC26A5	375611	broad.mit.edu	37	7	103050935	103050935	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr7:103050935C>T	ENST00000306312.3	-	7	893	c.632G>A	c.(631-633)cGt>cAt	p.R211H	SLC26A5_ENST00000393723.1_Missense_Mutation_p.R211H|SLC26A5_ENST00000393730.1_Missense_Mutation_p.R211H|SLC26A5_ENST00000393729.1_Missense_Mutation_p.R174H|SLC26A5_ENST00000432958.2_Missense_Mutation_p.R211H|SLC26A5_ENST00000339444.6_Missense_Mutation_p.R211H|SLC26A5_ENST00000393735.2_Missense_Mutation_p.R211H|SLC26A5_ENST00000393727.1_Missense_Mutation_p.R211H|SLC26A5_ENST00000356767.4_Missense_Mutation_p.R211H|SLC26A5_ENST00000354356.4_De_novo_Start_OutOfFrame	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	211					regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GGTAAACCCACGGACCAGAGG	0.413																																						ENST00000354356.4											0			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43							solute carrier family 26 (anion exchanger), member 5						70.0	69.0	69.0					7																	103050935		2203	4300	6503	SO:0001583	missense	375611			regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	g.chr7:103050935C>T	AC005064	AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615	ENSG00000170615	ENSG00000170615		"""Solute carriers"""	"""Solute carriers"""	9359	9359	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""deafness, neurosensory, autosomal recessive, 61"""	"""deafness, neurosensory, autosomal recessive, 61"""	604943	604943	"""prestin (motor protein)"""	PRES	"""prestin (motor protein)"""	PRES		10821263	10821263	Standard	Standard	NM_206883	NM_206883		Approved	DFNB61	uc003vbz.3	uc003vbz.3	P58743	P58743	OTTHUMG00000149911	OTTHUMG00000149911	ENST00000306312.3:c.632G>A	7.37:g.103050935C>T	ENSP00000304783:p.Arg211His		SLC26A5_ENST00000393723.1_Missense_Mutation_p.R211H|SLC26A5_ENST00000393729.1_Missense_Mutation_p.R174H|SLC26A5_ENST00000393727.1_Missense_Mutation_p.R211H|SLC26A5_ENST00000356767.4_Missense_Mutation_p.R211H|SLC26A5_ENST00000393735.2_Missense_Mutation_p.R211H|SLC26A5_ENST00000393730.1_Missense_Mutation_p.R211H|SLC26A5_ENST00000432958.2_Missense_Mutation_p.R211H|SLC26A5_ENST00000339444.6_Missense_Mutation_p.R211H|SLC26A5_ENST00000306312.3_Missense_Mutation_p.R211H				P58743	S26A5_HUMAN			0	798	-					Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Translation_Start_Site	SNP	ENST00000306312.3	37		CCDS5733.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553733	0.86231	.	.	ENSG00000170615	ENST00000339444;ENST00000356767;ENST00000393735;ENST00000306312;ENST00000393730;ENST00000432958;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D;D;D	0.92858	-3.12;-3.12;-3.12;-3.12;-3.12;-3.12;-3.12;-3.12;-3.12	5.72	5.72	0.89469	5.72	5.72	0.89469	Sulphate transporter (1);	0.000000	0.85682	D	0.000000	D	0.95987	0.8693	M	0.78637	2.42	0.80722	D	1	P;D;P;D;D	0.76494	0.909;0.999;0.733;0.996;0.997	P;D;P;P;P	0.66497	0.634;0.944;0.501;0.839;0.907	D	0.95899	0.8913	10	0.72032	D	0.01	.	19.885	0.96909	0.0:1.0:0.0:0.0	.	211;211;211;211;211	P58743;Q496J2;P58743-4;P58743-3;P58743-2	S26A5_HUMAN;.;.;.;.	H	211;211;211;211;211;211;174;211;211	ENSP00000342396:R211H;ENSP00000349210:R211H;ENSP00000377336:R211H;ENSP00000304783:R211H;ENSP00000377331:R211H;ENSP00000389733:R211H;ENSP00000377330:R174H;ENSP00000377328:R211H;ENSP00000377324:R211H	ENSP00000304783:R211H	R	-	2	0	0	SLC26A5	102838171	102838171	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.667000	0.68067	2.708000	0.92522	0.591000	0.81541	CGT		0.413	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1		35.525122	25	25	64	64	NM_198999		11	35.53447	35.534470	12	0.478261	0	0	0	1	0	11	12	0.478261
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"""guanine nucleotide binding protein (G protein), q polypeptide"""		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa	guanine nucleotide binding protein (G protein), q polypeptide						108.0	105.0	106.0					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		117.132570	38	38	150	150	NM_002072		35	117.233656	117.233656	41	0.460526	0	0	0	1	0	35	41	0.460526
DHRS7B	25979	broad.mit.edu	37	17	21092103	21092103	+	Silent	SNP	C	C	T	rs577733383		TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr17:21092103C>T	ENST00000395511.3	+	6	1019	c.699C>T	c.(697-699)acC>acT	p.T233T	DHRS7B_ENST00000579303.1_Silent_p.T218T|DHRS7B_ENST00000581463.1_Silent_p.T53T	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	233						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						TTGAGGTGACCGTCATCAGCC	0.537																																						ENST00000395511.3											0			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						c.(697-699)acC>acT	dehydrogenase/reductase (SDR family) member 7B						133.0	109.0	117.0					17																	21092103		2203	4300	6503	SO:0001819	synonymous_variant	25979				integral to membrane|peroxisomal membrane	binding|oxidoreductase activity	g.chr17:21092103C>T	BC004126	BC004126	CCDS11215.1	CCDS11215.1	17p12	2011-09-20			2011-09-20				ENSG00000109016		ENSG00000109016		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	24547	24547	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 32C, member 1"""	"""short chain dehydrogenase/reductase family 32C, member 1"""								10810093, 11230166, 19027726	10810093, 11230166, 19027726	Standard	Standard	NM_015510	NM_015510		Approved	DKFZp566O084, MGC8916, CGI-93, SDR32C1	uc002gyo.3	uc002gyo.3	Q6IAN0	Q6IAN0			ENST00000395511.3:c.699C>T	17.37:g.21092103C>T			DHRS7B_ENST00000579303.1_Silent_p.T218T|DHRS7B_ENST00000581463.1_Silent_p.T53T	p.T233T	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN			6	1019	+			233		B5MEF4|Q6UX59|Q9BTF9|Q9UFM6|Q9Y3A1	Silent	SNP	ENST00000395511.3	37	c.699C>T	CCDS11215.1																																																																																									0.537	DHRS7B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444066.3		98.917696	28	28	138	138	NM_015510		31	99.165742	99.165742	40	0.436620	0	0	0	1	0	31	40	0.43662
UBR4	23352	broad.mit.edu	37	1	19492233	19492233	+	Silent	SNP	G	G	A	rs143052374		TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr1:19492233G>A	ENST00000375254.3	-	30	4155	c.4128C>T	c.(4126-4128)atC>atT	p.I1376I	UBR4_ENST00000375217.2_Silent_p.I1376I|UBR4_ENST00000375267.2_Silent_p.I1376I|UBR4_ENST00000375226.2_Silent_p.I1376I	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1376					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATTCCTCCAGGATGGATTCAT	0.433																																						ENST00000375267.2											0			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(4126-4128)atC>atT	ubiquitin protein ligase E3 component n-recognin 4	G		4,4402	9.9+/-24.2	0,4,2199	76.0	74.0	75.0		4128	4.8	1.0	1	dbSNP_134	75	0,8600		0,0,4300	no	coding-synonymous	UBR4	NM_020765.2		0,4,6499	AA,AG,GG		0.0,0.0908,0.0308		1376/5184	19492233	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	23352			interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19492233G>A	AF348492	AF348492	CCDS189.1	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	"""Ubiquitin protein ligase E3 component n-recognins"""	30313	30313	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609890	609890	"""zinc finger, UBR1 type 1"""	ZUBR1	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	14702039, 10718198, 16055722	Standard	Standard	XM_005245802	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	uc001bbi.3	Q5T4S7	Q5T4S7	OTTHUMG00000002498	OTTHUMG00000002498	ENST00000375254.3:c.4128C>T	1.37:g.19492233G>A			UBR4_ENST00000375254.3_Silent_p.I1376I|UBR4_ENST00000375217.2_Silent_p.I1376I|UBR4_ENST00000375226.2_Silent_p.I1376I	p.I1376I			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	30	4131	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	1376		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	c.4128C>T	CCDS189.1																																																																																									0.433	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1		46.316831	17	17	68	68	NM_020765		15	46.685447	46.685447	23	0.394737	0	0	0	1	0	15	23	0.394737
ARSD	414	broad.mit.edu	37	X	2825571	2825571	+	Missense_Mutation	SNP	A	A	G			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chrX:2825571A>G	ENST00000381154.1	-	10	1598	c.1523T>C	c.(1522-1524)gTg>gCg	p.V508A	ARSD-AS1_ENST00000414053.1_RNA	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	508					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTGATGGGTCACGCCCTCCCC	0.677																																						ENST00000381154.1											0			large_intestine(3)|lung(3)	6						c.(1522-1524)gTg>gCg	arylsulfatase D						18.0	19.0	19.0					X																	2825571		2191	4288	6479	SO:0001583	missense	414				lysosome	arylsulfatase activity|metal ion binding	g.chrX:2825571A>G	X83572	X83572	CCDS35196.1	CCDS35196.1	Xp22.3	2013-02-14			2013-02-14			ENSG00000006756	ENSG00000006756	ENSG00000006756	ENSG00000006756		"""Arylsulfatase family"""	"""Arylsulfatase family"""	717	717	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300002	300002						7720070	7720070	Standard	Standard	NM_001669	NM_001669		Approved		uc004cqy.3	uc004cqy.3	P51689	P51689	OTTHUMG00000021077	OTTHUMG00000021077	ENST00000381154.1:c.1523T>C	X.37:g.2825571A>G	ENSP00000370546:p.Val508Ala			p.V508A	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN			10	1598	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	508		Q9UHJ8	Missense_Mutation	SNP	ENST00000381154.1	37	c.1523T>C	CCDS35196.1	.	.	.	.	.	.	.	.	.	.	a	14.07	2.426690	0.43020	.	.	ENSG00000006756	ENST00000381154;ENST00000458014	D;D	0.94092	-3.35;-3.35	3.03	3.03	0.35002	3.03	3.03	0.35002	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.64402	U	0.000003	D	0.96024	0.8705	M	0.83012	2.62	0.47819	D	0.999526	D	0.76494	0.999	D	0.70016	0.967	D	0.95553	0.8622	10	0.66056	D	0.02	.	10.7922	0.46440	1.0:0.0:0.0:0.0	.	508	P51689	ARSD_HUMAN	A	508;110	ENSP00000370546:V508A;ENSP00000409180:V110A	ENSP00000370546:V508A	V	-	2	0	0	ARSD	2835571	2835571	0.999000	0.42202	0.015000	0.15790	0.007000	0.05969	7.544000	0.82117	0.951000	0.37770	0.424000	0.28305	GTG		0.677	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1		6.349936	-4	-4	10	10			2	6.349936	6.349936	2	0.500000	0	0	0	1	0	2	2	0.5
SETX	23064	broad.mit.edu	37	9	135163946	135163946	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr9:135163946G>A	ENST00000224140.5	-	16	6381	c.6199C>T	c.(6199-6201)Cac>Tac	p.H2067Y	SETX_ENST00000393220.1_Missense_Mutation_p.H2067Y|SETX_ENST00000372169.2_Missense_Mutation_p.H2067Y	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2067					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CTCATTCTGTGGTTTACTTGG	0.373																																						ENST00000372169.2											0			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(6199-6201)Cac>Tac	senataxin						121.0	118.0	119.0					9																	135163946		2202	4300	6502	SO:0001583	missense	23064			cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135163946G>A	AB014525	AB014525	CCDS6947.1	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290	ENSG00000107290	ENSG00000107290				445	445	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608465	608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	9497266, 11022012	Standard	Standard	NM_015046	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	uc004cbk.3	Q7Z333	Q7Z333	OTTHUMG00000020834	OTTHUMG00000020834	ENST00000224140.5:c.6199C>T	9.37:g.135163946G>A	ENSP00000224140:p.His2067Tyr		SETX_ENST00000224140.5_Missense_Mutation_p.H2067Y|SETX_ENST00000393220.1_Missense_Mutation_p.H2067Y	p.H2067Y			Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	16	6381	-		Myeloproliferative disorder(178;0.204)	2067		A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.6199C>T	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.156871	0.78114	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61	5.35	4.44	0.53790	5.35	4.44	0.53790	.	0.000000	0.64402	D	0.000001	D	0.89086	0.6615	M	0.65975	2.015	0.37277	D	0.907687	D;D;D	0.89917	0.957;1.0;0.999	D;D;D	0.87578	0.966;0.998;0.994	D	0.90900	0.4768	10	0.72032	D	0.01	.	12.5512	0.56227	0.0816:0.0:0.9184:0.0	.	2067;2067;2067	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	Y	2067;309;2067;2067	ENSP00000224140:H2067Y;ENSP00000409143:H309Y;ENSP00000361242:H2067Y;ENSP00000376913:H2067Y	ENSP00000224140:H2067Y	H	-	1	0	0	SETX	134153767	134153767	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.193000	0.50997	2.671000	0.90904	0.650000	0.86243	CAC		0.373	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3		55.651606	40	40	111	111	NM_015046		18	55.826979	55.826979	13	0.580645	0	0	0	1	0	18	13	0.580645
PLD2	5338	broad.mit.edu	37	17	4722777	4722777	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr17:4722777G>A	ENST00000263088.6	+	23	2493	c.2362G>A	c.(2362-2364)Gcc>Acc	p.A788T	PLD2_ENST00000572940.1_Missense_Mutation_p.A788T	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	788	Catalytic.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	CAGTGAGCTGGCCGTGCTGAT	0.607																																						ENST00000263088.6											0			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(2362-2364)Gcc>Acc	phospholipase D2						100.0	74.0	83.0					17																	4722777		2203	4300	6503	SO:0001583	missense	5338			cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr17:4722777G>A	AF035483	AF035483	CCDS11057.1, CCDS58507.1	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			2008-04-14			ENSG00000129219	ENSG00000129219	ENSG00000129219	ENSG00000129219	3.1.4.4			9068	9068	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""choline phosphatase 2"""	"""choline phosphatase 2"""	602384	602384						9858823, 9582313	9858823, 9582313	Standard	Standard	NM_002663	NM_002663		Approved		uc002fzc.3	uc002fzc.3	O14939	O14939	OTTHUMG00000090779	OTTHUMG00000090779	ENST00000263088.6:c.2362G>A	17.37:g.4722777G>A	ENSP00000263088:p.Ala788Thr		PLD2_ENST00000572940.1_Missense_Mutation_p.A788T	p.A788T	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN			23	2493	+			788	Catalytic.	I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Missense_Mutation	SNP	ENST00000263088.6	37	c.2362G>A	CCDS11057.1	.	.	.	.	.	.	.	.	.	.	G	34	5.336125	0.95758	.	.	ENSG00000129219	ENST00000263088	T	0.23552	1.9	4.41	4.41	0.53225	4.41	4.41	0.53225	.	0.060781	0.64402	D	0.000004	T	0.58764	0.2145	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.69289	-0.5184	10	0.72032	D	0.01	-7.6039	14.5126	0.67797	0.0:0.0:1.0:0.0	.	788;788	O14939-2;O14939	.;PLD2_HUMAN	T	788	ENSP00000263088:A788T	ENSP00000263088:A788T	A	+	1	0	0	PLD2	4669743	4669743	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.147000	0.94646	2.294000	0.77228	0.563000	0.77884	GCC		0.607	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3		22.126358	-6	-6	30	30	NM_002663		7	22.198981	22.198981	5	0.583333	0	0	0	1	0	7	5	0.583333
NBEAL2	23218	broad.mit.edu	37	3	47041744	47041744	+	Silent	SNP	G	G	A			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr3:47041744G>A	ENST00000450053.3	+	27	4334	c.4155G>A	c.(4153-4155)caG>caA	p.Q1385Q	NBEAL2_ENST00000292309.5_Silent_p.Q1201Q|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1385					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CAGCCAGCCAGCCCGGCACTC	0.652																																						ENST00000450053.3											0			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(4153-4155)caG>caA	neurobeachin-like 2						39.0	45.0	43.0					3																	47041744		2102	4212	6314	SO:0001819	synonymous_variant	23218					binding	g.chr3:47041744G>A	AB011112	AB011112	CCDS46817.1	CCDS46817.1	3p21.31	2014-09-17			2014-09-17			ENSG00000160796	ENSG00000160796	ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	"""WD repeat domain containing"""	31928	31928	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614169	614169								Standard	Standard	NM_015175	NM_015175		Approved	KIAA0540	uc003cqp.3	uc003cqp.3	Q6ZNJ1	Q6ZNJ1	OTTHUMG00000156497	OTTHUMG00000156497	ENST00000450053.3:c.4155G>A	3.37:g.47041744G>A			NBEAL2_ENST00000292309.5_Silent_p.Q1201Q|NBEAL2_ENST00000383740.2_5'UTR	p.Q1385Q	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	27	4334	+		Acute lymphoblastic leukemia(5;0.0534)	1385		O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	37	c.4155G>A	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	G	5.485	0.274490	0.10403	.	.	ENSG00000160796	ENST00000416683	.	.	.	5.48	1.15	0.20763	5.48	1.15	0.20763	.	.	.	.	.	T	0.57917	0.2086	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52056	-0.8626	4	.	.	.	.	9.8571	0.41092	0.3452:0.0:0.6548:0.0	.	.	.	.	N	673	.	.	S	+	2	0	0	NBEAL2	47016748	47016748	1.000000	0.71417	0.999000	0.59377	0.644000	0.38419	0.930000	0.28858	0.297000	0.22615	-0.258000	0.10820	AGC		0.652	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3		50.371641	27	27	78	78	XM_291064		17	50.487025	50.487025	13	0.566667	0	0	0	1	0	17	13	0.566667
FKBP9	11328	broad.mit.edu	37	7	33028245	33028245	+	Silent	SNP	G	G	A			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr7:33028245G>A	ENST00000242209.4	+	6	1189	c.1020G>A	c.(1018-1020)ggG>ggA	p.G340G	FKBP9_ENST00000489038.1_3'UTR|FKBP9_ENST00000538443.1_Silent_p.G202G|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Silent_p.G393G|FKBP9_ENST00000490776.2_Silent_p.G108G	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	340	PPIase FKBP-type 3. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			CTCACCTGGGGTATGGAGAGG	0.512																																						ENST00000242209.4											0			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39						c.(1018-1020)ggG>ggA	FK506 binding protein 9, 63 kDa						114.0	98.0	103.0					7																	33028245		2203	4300	6503	SO:0001819	synonymous_variant	11328			protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:33028245G>A	AF089745	AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642	ENSG00000122642	ENSG00000122642		"""EF-hand domain containing"""	"""EF-hand domain containing"""	3725	3725	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""FK506-binding protein 9 (63 kD)"""		"""FK506-binding protein 9 (63 kD)"""			12036304	12036304	Standard	Standard	NM_007270	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	uc003tdh.3	O95302	O95302	OTTHUMG00000097847	OTTHUMG00000097847	ENST00000242209.4:c.1020G>A	7.37:g.33028245G>A			FKBP9_ENST00000538443.1_Silent_p.G202G|FKBP9_ENST00000538336.1_Silent_p.G393G|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000490776.2_Silent_p.G108G|FKBP9_ENST00000489038.1_3'UTR	p.G340G	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0156)		6	1189	+			340	PPIase FKBP-type 3.	B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Silent	SNP	ENST00000242209.4	37	c.1020G>A	CCDS5439.1																																																																																									0.512	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1		36.695379	19	19	50	50	NM_007270		12	36.820022	36.820022	16	0.428571	0	0	0	1	0	12	16	0.428571
PPP1R3A	5506	broad.mit.edu	37	7	113519490	113519490	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr7:113519490C>T	ENST00000284601.3	-	4	1725	c.1657G>A	c.(1657-1659)Gca>Aca	p.A553T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	553					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CCAATCCCTGCCACACTTATT	0.418																																						ENST00000284601.3											0			NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(1657-1659)Gca>Aca	protein phosphatase 1, regulatory subunit 3A						103.0	96.0	98.0					7																	113519490		2203	4300	6503	SO:0001583	missense	5506			glycogen metabolic process	integral to membrane		g.chr7:113519490C>T	AF024578	AF024578	CCDS5759.1	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	9291	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	7926294	Standard	Standard	NM_002711	NM_002711		Approved	GM	uc010ljy.1	uc010ljy.1	Q16821	Q16821	OTTHUMG00000156944	OTTHUMG00000156944	ENST00000284601.3:c.1657G>A	7.37:g.113519490C>T	ENSP00000284601:p.Ala553Thr			p.A553T	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	1725	-			553		A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.1657G>A	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.994753	0.35226	.	.	ENSG00000154415	ENST00000284601	T	0.16597	2.33	5.72	3.89	0.44902	5.72	3.89	0.44902	.	0.804958	0.11529	N	0.554903	T	0.09379	0.0231	N	0.14661	0.345	0.09310	N	1	B	0.17667	0.023	B	0.12837	0.008	T	0.21724	-1.0237	10	0.36615	T	0.2	-0.4916	4.5998	0.12348	0.167:0.5848:0.0:0.2482	.	553	Q16821	PPR3A_HUMAN	T	553	ENSP00000284601:A553T	ENSP00000284601:A553T	A	-	1	0	0	PPP1R3A	113306726	113306726	0.000000	0.05858	0.029000	0.17559	0.019000	0.09904	0.631000	0.24568	1.554000	0.49487	0.655000	0.94253	GCA		0.418	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1		53.534194	78	78	143	143	NM_002711		18	54.620908	54.620908	34	0.346154	0	0	0	1	0	18	34	0.346154
SLC12A7	10723	broad.mit.edu	37	5	1060463	1060463	+	Missense_Mutation	SNP	C	C	A	rs143654475		TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr5:1060463C>A	ENST00000264930.5	-	21	2886	c.2843G>T	c.(2842-2844)cGa>cTa	p.R948L	MIR4635_ENST00000583759.1_RNA	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	948					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	ACGTACCTCTCGCTCCTGCTC	0.562																																						ENST00000264930.5											0			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(2842-2844)cGa>cTa	solute carrier family 12 (potassium/chloride transporter), member 7						172.0	139.0	150.0					5																	1060463		2203	4300	6503	SO:0001583	missense	10723			potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1060463C>A	AF105365	AF105365	CCDS34129.1	CCDS34129.1	5p15	2013-07-18	2013-07-18		2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504	ENSG00000113504	ENSG00000113504		"""Solute carriers"""	"""Solute carriers"""	10915	10915	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604879	604879						10347194	10347194	Standard	Standard	NM_006598	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	uc003jbu.3	Q9Y666	Q9Y666	OTTHUMG00000161931	OTTHUMG00000161931	ENST00000264930.5:c.2843G>T	5.37:g.1060463C>A	ENSP00000264930:p.Arg948Leu			p.R948L	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		21	2886	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		948		A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.2843G>T	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.948571	0.53186	.	.	ENSG00000113504	ENST00000264930	T	0.46451	0.87	4.22	4.22	0.49857	4.22	4.22	0.49857	.	0.105103	0.64402	D	0.000004	T	0.47322	0.1439	M	0.78223	2.4	0.58432	D	0.999991	B	0.31910	0.346	B	0.33121	0.158	T	0.55451	-0.8139	10	0.54805	T	0.06	.	15.1183	0.72423	0.0:1.0:0.0:0.0	.	948	Q9Y666	S12A7_HUMAN	L	948	ENSP00000264930:R948L	ENSP00000264930:R948L	R	-	2	0	0	SLC12A7	1113463	1113463	0.998000	0.40836	0.818000	0.32626	0.054000	0.15201	6.830000	0.75319	1.911000	0.55334	0.467000	0.42956	CGA		0.562	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2		56.381986	34	34	124	124	NM_006598		20	56.902952	56.902952	31	0.392157	1	0	2.39556e-15	1	2.39556e-15	20	31	0.392157
SLC2A8	29988	broad.mit.edu	37	9	130169508	130169508	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr9:130169508G>A	ENST00000373371.3	+	10	1503	c.1414G>A	c.(1414-1416)Gcc>Acc	p.A472T	SLC2A8_ENST00000373360.3_3'UTR|SLC2A8_ENST00000373352.1_Missense_Mutation_p.A209T	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	472					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|male meiosis I (GO:0007141)|response to hypoxia (GO:0001666)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	glucose binding (GO:0005536)|glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						ACAAATCACAGCCCATTTTGA	0.557																																						ENST00000373371.3											0			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						c.(1414-1416)Gcc>Acc	solute carrier family 2 (facilitated glucose transporter), member 8						75.0	72.0	73.0					9																	130169508		2203	4300	6503	SO:0001583	missense	29988				cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity	g.chr9:130169508G>A	AJ245937	AJ245937	CCDS6870.1, CCDS65138.1, CCDS75903.1	CCDS6870.1, CCDS65138.1, CCDS75903.1	9q33.3	2013-05-22	2008-09-02		2013-05-22	2008-09-02		ENSG00000136856	ENSG00000136856	ENSG00000136856	ENSG00000136856		"""Solute carriers"""	"""Solute carriers"""	13812	13812	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605245	605245	"""solute carrier family 2 (facilitated glucose transporter) member 8"""		"""solute carrier family 2 (facilitated glucose transporter) member 8"""			10671487, 10821868	10671487, 10821868	Standard	Standard	NM_014580	NM_014580		Approved	GLUTX1, GLUT8	uc004bqu.4	uc004bqu.4	Q9NY64	Q9NY64	OTTHUMG00000020702	OTTHUMG00000020702	ENST00000373371.3:c.1414G>A	9.37:g.130169508G>A	ENSP00000362469:p.Ala472Thr		SLC2A8_ENST00000373360.3_3'UTR|SLC2A8_ENST00000373352.1_Missense_Mutation_p.A209T	p.A472T	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN			10	1503	+			472		Q8WUZ9|Q9NSC4	Missense_Mutation	SNP	ENST00000373371.3	37	c.1414G>A	CCDS6870.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.085018	0.76642	.	.	ENSG00000136856	ENST00000373371;ENST00000373352	T;T	0.74106	-0.81;-0.81	5.24	4.34	0.51931	5.24	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.80166	0.4573	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74714	-0.3572	10	0.14656	T	0.56	.	12.1113	0.53840	0.0861:0.0:0.9139:0.0	.	472	Q9NY64	GTR8_HUMAN	T	472;209	ENSP00000362469:A472T;ENSP00000362450:A209T	ENSP00000362450:A209T	A	+	1	0	0	SLC2A8	129209329	129209329	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.167000	0.94773	2.445000	0.82738	0.655000	0.94253	GCC		0.557	SLC2A8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054177.1		73.395407	5	5	108	108	NM_014580		24	73.433822	73.433822	27	0.470588	0	0	0	1	0	24	27	0.470588
E2F7	144455	ucsc.edu	37	12	77419664	77419664	+	Missense_Mutation	SNP	C	C	A			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr12:77419664C>A	ENST00000322886.7	-	12	2474	c.2239G>T	c.(2239-2241)Gtc>Ttc	p.V747F	E2F7_ENST00000416496.2_Intron	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	747					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						GATGGTAAGACCATGCAAGGG	0.527																																																	0																	43.0	48.0	46.0					12																	77419664		2203	4300	6503	SO:0001583	missense	144455							BC016658	BC016658	CCDS9016.1	CCDS9016.1	12q21.1	2008-02-05			2008-02-05				ENSG00000165891		ENSG00000165891				23820	23820	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612046	612046						12893818	12893818	Standard	Standard	NM_203394	NM_203394		Approved		uc001sym.4	uc001sym.4	Q96AV8	Q96AV8	OTTHUMG00000169969	OTTHUMG00000169969	ENST00000322886.7:c.2239G>T	12.37:g.77419664C>A	ENSP00000323246:p.Val747Phe																	A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Missense_Mutation	SNP	ENST00000322886.7	37		CCDS9016.1	.	.	.	.	.	.	.	.	.	.	C	7.465	0.645496	0.14451	.	.	ENSG00000165891	ENST00000322886;ENST00000339887	T	0.16597	2.33	5.92	4.07	0.47477	5.92	4.07	0.47477	.	0.354113	0.29745	N	0.011308	T	0.11623	0.0283	L	0.33485	1.01	0.80722	D	1	B	0.24533	0.105	B	0.20384	0.029	T	0.11916	-1.0568	10	0.45353	T	0.12	-12.8649	5.1359	0.14934	0.1727:0.6522:0.0:0.1751	.	747	Q96AV8	E2F7_HUMAN	F	747;234	ENSP00000323246:V747F	ENSP00000323246:V747F	V	-	1	0	0	E2F7	75943795	75943795	0.997000	0.39634	0.992000	0.48379	0.079000	0.17450	0.434000	0.21494	0.810000	0.34279	-0.136000	0.14681	GTC		0.527	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1			19	19	55	55	XM_084871		4			15							4	15	
EIF1AX	1964	broad.mit.edu	37	X	20156713	20156713	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chrX:20156713C>T	ENST00000379607.5	-	2	247	c.44G>A	c.(43-45)gGt>gAt	p.G15D	snoU2_19_ENST00000364722.1_RNA|snoU2-30_ENST00000365012.1_RNA|EIF1AX_ENST00000379593.1_Intron|EIF1AX-AS1_ENST00000424026.1_RNA	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	15					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						CTCATTCTTACCCCTGCGTCT	0.308																																						ENST00000379607.5											0			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.(43-45)gGt>gAt	eukaryotic translation initiation factor 1A, X-linked						164.0	152.0	156.0					X																	20156713		2203	4300	6503	SO:0001583	missense	1964				cytosol	translation initiation factor activity	g.chrX:20156713C>T	L18960	L18960	CCDS14196.1	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674	ENSG00000173674	ENSG00000173674				3250	3250	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300186	300186	"""eukaryotic translation initiation factor 1A, X chromosome"""	EIF4C, EIF1A	"""eukaryotic translation initiation factor 1A, X chromosome"""	EIF4C, EIF1A		8106356, 9381176	8106356, 9381176	Standard	Standard	NM_001412	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	uc004czt.3	P47813	P47813	OTTHUMG00000022704	OTTHUMG00000022704	ENST00000379607.5:c.44G>A	X.37:g.20156713C>T	ENSP00000368927:p.Gly15Asp		EIF1AX_ENST00000379593.1_Intron	p.G15D	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN			2	247	-			15		B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Missense_Mutation	SNP	ENST00000379607.5	37	c.44G>A	CCDS14196.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.551056	0.65311	.	.	ENSG00000173674	ENST00000379607	T	0.45276	0.9	4.94	4.94	0.65067	4.94	4.94	0.65067	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.75953	0.3920	H	0.96175	3.78	0.80722	D	1	D	0.62365	0.991	D	0.74023	0.982	D	0.85102	0.0958	9	0.87932	D	0	-6.0481	17.661	0.88193	0.0:1.0:0.0:0.0	.	15	P47813	IF1AX_HUMAN	D	15	ENSP00000368927:G15D	ENSP00000368927:G15D	G	-	2	0	0	EIF1AX	20066634	20066634	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	7.237000	0.78164	2.187000	0.69744	0.600000	0.82982	GGT		0.308	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1		45.422944	-69	-69	119	119			12	45.422699	45.422699	0	1.000000	0	0	0	1	0	12	0	1.0
IGHV1-46	28465	broad.mit.edu	37	14	106967230	106967230	+	RNA	SNP	C	C	T			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr14:106967230C>T	ENST00000390622.2	-	0	473									immunoglobulin heavy variable 1-46																		AGGGGCCTGTCGCACCCAGTG	0.557																																						ENST00000390622.2											0																	132.0	125.0	128.0					14																	106967230		1939	4133	6072			0						g.chr14:106967230C>T	X92343	X92343			14q32.33	2012-02-08			2012-02-08			ENSG00000211962	ENSG00000211962	ENSG00000211962	ENSG00000211962		"""Immunoglobulins / IGH locus"""	"""Immunoglobulins / IGH locus"""	5554	5554	other	immunoglobulin gene	other	immunoglobulin gene												Standard	Standard	NG_001019	NG_001019		Approved						OTTHUMG00000151963	OTTHUMG00000151963		14.37:g.106967230C>T											0	473	-						RNA	SNP	ENST00000390622.2	37																																																																																											0.557	IGHV1-46-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324609.1		99.576673	53	53	241	241	NG_001019		33	100.588028	100.588028	53	0.383721	0	0	0	1	0	33	53	0.383721
LINC00482	284185	broad.mit.edu	37	17	79278931	79278931	+	lincRNA	DEL	G	G	-			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	g.chr17:79278931delG	ENST00000332012.5	-	0	662					NR_038080.1		Q8N8I6	CQ055_HUMAN	long intergenic non-protein coding RNA 482																		GTGCCTTCGAGGGCCTGGTTG	0.667																																						ENST00000332012.5											0																	15.0	16.0	15.0					17																	79278931		2026	4186	6212			0						g.chr17:79278931delG	AK096740	AK096740			17q25.3	2012-10-12	2011-09-01	2011-09-01	2012-10-12	2011-09-01	2011-09-01	ENSG00000185168	ENSG00000185168	ENSG00000185168	ENSG00000185168		"""Long non-coding RNAs"""	"""Long non-coding RNAs"""	26816	26816	non-coding RNA	RNA, long non-coding	non-coding RNA	RNA, long non-coding					"""chromosome 17 open reading frame 55"""	C17orf55	"""chromosome 17 open reading frame 55"""	C17orf55				Standard	Standard	NR_038080	NR_038080		Approved	FLJ39421	uc002kac.1	uc002kac.1	Q8N8I6	Q8N8I6				17.37:g.79278931delG					NR_038080.1						0	662	-						RNA	DEL	ENST00000332012.5	37																																																																																											0.667	LINC00482-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000439605.1	.	.	5	5	15	15	NM_178519		2			4	0.33						2	4	0.33
