#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
NEDD9	4739	broad.mit.edu	37	6	11213930	11213930	+	Missense_Mutation	SNP	C	C	T			TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr6:11213930C>T	ENST00000379446.5	-	2	209	c.43G>A	c.(43-45)Gtc>Atc	p.V15I	NEDD9_ENST00000504387.1_Missense_Mutation_p.V15I|NEDD9_ENST00000379433.5_Missense_Mutation_p.V15I|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	15	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			CACTCTGGGACATTGTCATAT	0.517																																						ENST00000379446.5																			0				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(43-45)Gtc>Atc		neural precursor cell expressed, developmentally down-regulated 9							91.0	83.0	85.0					6																	11213930		2203	4300	6503	SO:0001583	missense	4739				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding	g.chr6:11213930C>T	L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"""Cas scaffolding proteins"""	7733	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 2"", ""Cas-like"""	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.43G>A	6.37:g.11213930C>T	ENSP00000368759:p.Val15Ile					NEDD9_ENST00000504387.1_Missense_Mutation_p.V15I|NEDD9_ENST00000379433.5_Missense_Mutation_p.V15I|RP3-510L9.1_ENST00000500636.2_RNA	p.V15I	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	Epithelial(50;0.0647)|all cancers(50;0.179)		2	209	-	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	15			SH3.		A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Missense_Mutation	SNP	ENST00000379446.5	37	c.43G>A	CCDS4520.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.594812	0.66219	.	.	ENSG00000111859	ENST00000379446;ENST00000504387;ENST00000379433;ENST00000513989;ENST00000397378	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;1.94	6.17	6.17	0.99709	Src homology-3 domain (4);	0.106561	0.64402	D	0.000004	T	0.51449	0.1675	L	0.37850	1.14	0.58432	D	0.999996	P;D;P	0.69078	0.539;0.997;0.747	B;D;P	0.79108	0.316;0.992;0.487	T	0.17623	-1.0363	10	0.18276	T	0.48	-37.8106	20.8794	0.99867	0.0:1.0:0.0:0.0	.	15;15;15	G5E9Y9;Q5XKI0;Q14511	.;.;CASL_HUMAN	I	15;15;15;9;15	ENSP00000368759:V15I;ENSP00000422871:V15I;ENSP00000368745:V15I;ENSP00000421282:V9I;ENSP00000380534:V15I	ENSP00000368745:V15I	V	-	1	0	NEDD9	11321916	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.435000	0.44811	2.941000	0.99782	0.655000	0.94253	GTC		0.517	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039853.2	NM_006403		20	40	0	0	0	1	0	20	40				
GSTA3	2940	broad.mit.edu	37	6	52762673	52762673	+	Missense_Mutation	SNP	A	A	T			TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr6:52762673A>T	ENST00000211122.3	-	6	561	c.496T>A	c.(496-498)Tat>Aat	p.Y166N	GSTA3_ENST00000370968.1_Missense_Mutation_p.Y116N	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3	166	GST C-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	TCTTCCACATAGTAGAGAAGT	0.512																																						ENST00000211122.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10						c.(496-498)Tat>Aat		glutathione S-transferase alpha 3	Glutathione(DB00143)						165.0	146.0	153.0					6																	52762673		2203	4300	6503	SO:0001583	missense	2940				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52762673A>T	AF020919	CCDS4947.1	6p12.2	2012-06-21	2008-11-26		ENSG00000174156	ENSG00000174156	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4628	protein-coding gene	gene with protein product		605449	"""glutathione S-transferase A3"""			8307579, 9480897	Standard	NM_000847		Approved		uc003pbb.3	Q16772	OTTHUMG00000014865	ENST00000211122.3:c.496T>A	6.37:g.52762673A>T	ENSP00000211122:p.Tyr166Asn					GSTA3_ENST00000370968.1_Missense_Mutation_p.Y116N	p.Y166N	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN			6	561	-	Lung NSC(77;0.0912)		166			GST C-terminal.		O43468|Q068V6|Q8WWA8|Q9H415	Missense_Mutation	SNP	ENST00000211122.3	37	c.496T>A	CCDS4947.1	.	.	.	.	.	.	.	.	.	.	A	2.549	-0.304552	0.05495	.	.	ENSG00000174156	ENST00000370968;ENST00000211122;ENST00000431899	T;T;T	0.12361	4.52;4.52;2.69	3.91	-5.39	0.02664	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.484707	0.22830	N	0.055104	T	0.01765	0.0056	L	0.28192	0.835	0.09310	N	1	B	0.12013	0.005	B	0.14578	0.011	T	0.39461	-0.9613	10	0.32370	T	0.25	.	2.4846	0.04595	0.1689:0.2022:0.0865:0.5424	.	166	Q16772	GSTA3_HUMAN	N	116;166;98	ENSP00000360007:Y116N;ENSP00000211122:Y166N;ENSP00000399142:Y98N	ENSP00000211122:Y166N	Y	-	1	0	GSTA3	52870632	0.000000	0.05858	0.006000	0.13384	0.007000	0.05969	-0.191000	0.09601	-0.524000	0.06400	-1.142000	0.01873	TAT		0.512	GSTA3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040933.1			5	88	0	0	0	1	0	5	88				
CTCF	10664	broad.mit.edu	37	16	67645506	67645506	+	Missense_Mutation	SNP	T	T	G			TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr16:67645506T>G	ENST00000264010.4	+	3	1215	c.771T>G	c.(769-771)atT>atG	p.I257M	AC009095.4_ENST00000388909.4_RNA|CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	257					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		CAACAAAAATTAAAAAGAAAG	0.373																																					Colon(175;1200 1966 6945 23069 27405)	ENST00000264010.4																			0				breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79						c.(769-771)atT>atG		CCCTC-binding factor (zinc finger protein)							51.0	56.0	54.0					16																	67645506		2188	4272	6460	SO:0001583	missense	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67645506T>G	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.771T>G	16.37:g.67645506T>G	ENSP00000264010:p.Ile257Met					CTCF_ENST00000401394.1_Intron	p.I257M	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	3	1215	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	257					B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	ENST00000264010.4	37	c.771T>G	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.844560	0.51164	.	.	ENSG00000102974	ENST00000264010	T	0.09073	3.02	5.4	4.28	0.50868	.	0.000000	0.64402	D	0.000001	T	0.13970	0.0338	N	0.19112	0.55	0.80722	D	1	D	0.65815	0.995	D	0.75484	0.986	T	0.10245	-1.0638	10	0.33141	T	0.24	.	11.6595	0.51339	0.0:0.0708:0.0:0.9292	.	257	P49711	CTCF_HUMAN	M	257	ENSP00000264010:I257M	ENSP00000264010:I257M	I	+	3	3	CTCF	66203007	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.413000	0.34725	2.271000	0.75665	0.533000	0.62120	ATT		0.373	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		20	30	0	0	0	1	0	20	30				
PRSS3P2	154754	broad.mit.edu	37	7	142481789	142481789	+	RNA	SNP	T	T	C	rs374686280		TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr7:142481789T>C	ENST00000603901.1	+	0	468					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										ACTACCCAGATGAGCTGCAGT	0.488																																						ENST00000603901.1																			0																																																			154754							g.chr7:142481789T>C			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481789T>C								NR_001296.3						0	468	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.488	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		3	41	0	0	0	1	0	3	41				
TPM3P9	147804	broad.mit.edu	37	19	53945909	53945909	+	RNA	SNP	T	T	C	rs28727441	byFrequency	TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr19:53945909T>C	ENST00000424846.3	+	0	906				ZNF761_ENST00000454407.1_RNA	NR_003148.3				tropomyosin 3 pseudogene 9																		ACCCTGACTCTGCCTGAGGCC	0.562													N|||	2656	0.530351	0.5348	0.5533	5008	,	,		11317	0.2728		0.6402	False		,,,				2504	0.6605					ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761																																						388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53945909T>C			19q13.42	2012-07-04			ENSG00000241015	ENSG00000241015			44142	pseudogene	pseudogene							Standard	NR_003148		Approved				OTTHUMG00000157312		19.37:g.53945909T>C						TPM3P9_ENST00000424846.3_RNA				Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	55	+									RNA	SNP	ENST00000424846.3	37																																																																																						0.562	TPM3P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347070.1	NR_003148		4	29	0	0	0	1	0	4	29				
CROCCP2	84809	broad.mit.edu	37	1	16946434	16946434	+	lincRNA	SNP	C	C	T	rs367060	byFrequency	TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr1:16946434C>T	ENST00000412962.1	-	0	1085				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CTCAGCCTTCCGCCGGGCCAG	0.672													.|||	253	0.0505192	0.115	0.0533	5008	,	,		65734	0.0119		0.0437	False		,,,				2504	0.0082					ENST00000412962.1																			0																																																			84809							g.chr1:16946434C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946434C>T														0	1085	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		3	23	0	0	0	1	0	3	23				
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C	rs369310197		TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					protein targeting to Golgi (GO:0000042)			p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373																																						ENST00000409886.3																			6	Substitution - Missense(6)	p.N756D(6)	endometrium(6)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2266-2268)Aac>Gac		RANBP2-like and GRIP domain containing 3							164.0	133.0	142.0					2																	107049681		692	1590	2282	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107049681T>C		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2266A>G	2.37:g.107049681T>C	ENSP00000386588:p.Asn756Asp					RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2353	-			756					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2266A>G	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481585	0.00163	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23754	1.89;1.89	2.34	2.34	0.29019	.	.	.	.	.	T	0.07638	0.0192	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	9	0.02654	T	1	-2.2547	7.1228	0.25454	0.0:0.8499:0.0:0.1501	.	756	A6NKT7	RGPD3_HUMAN	D	756;514;756	ENSP00000386588:N756D;ENSP00000303659:N756D	ENSP00000303659:N756D	N	-	1	0	RGPD3	106416113	0.974000	0.33945	0.242000	0.24170	0.003000	0.03518	4.107000	0.57811	0.325000	0.23359	-1.206000	0.01644	AAC		0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		5	292	0	0	0	1	0	5	292				
WASH6P	653440	broad.mit.edu	37	X	155255062	155255062	+	RNA	SNP	C	C	G			TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chrX:155255062C>G	ENST00000461007.1	+	0	3978				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										CACCTTCCCCCCCAGACCCAG	0.627																																						ENST00000285718.7																			0																																																			653440							g.chrX:155255062C>G	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155255062C>G						WASH6P_ENST00000461007.1_RNA								0	1367	+								A6NGF1|Q8N305	RNA	SNP	ENST00000461007.1	37																																																																																						0.627	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1	NG_008380		3	10	0	0	0	1	0	3	10				
TRIOBP	11078	broad.mit.edu	37	22	38119859	38119859	+	Silent	SNP	C	C	T	rs66505048	byFrequency	TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr22:38119859C>T	ENST00000406386.3	+	7	1551	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	432					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.C432C(6)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAACATCCTGCGCCCAGCGGG	0.582																																						ENST00000406386.3																			6	Substitution - coding silent(6)	p.C432C(6)	kidney(3)|cervix(1)|lung(1)|endometrium(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1294-1296)tgC>tgT		TRIO and F-actin binding protein																																				SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38119859C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1296C>T	22.37:g.38119859C>T						RP1-37E16.12_ENST00000455236.1_RNA	p.C432C	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	1551	+	Melanoma(58;0.0574)		432					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.1296C>T	CCDS43015.1																																																																																				0.582	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			5	71	0	0	0	1	0	5	71				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	4	62	0	0	0	1	0	4	62				
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	lincRNA	SNP	C	C	T			TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269																																						ENST00000423385.1																			0																																																			0							g.chr1:142803543C>T																													1.37:g.142803543C>T														0	1422	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.269	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			4	114	0	0	0	1	0	4	114				
WASH6P	653440	broad.mit.edu	37	X	155255043	155255043	+	RNA	SNP	G	G	A			TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chrX:155255043G>A	ENST00000461007.1	+	0	3959				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										ATCCTAGGGGGCTCCATGACA	0.642																																						ENST00000285718.7																			0																																																			653440							g.chrX:155255043G>A	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155255043G>A						WASH6P_ENST00000461007.1_RNA								0	1348	+								A6NGF1|Q8N305	RNA	SNP	ENST00000461007.1	37																																																																																						0.642	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1	NG_008380		3	10	0	0	0	1	0	3	10				
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Tgt		isocitrate dehydrogenase 1 (NADP+), soluble							81.0	74.0	76.0					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>A		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys					IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	p.R132C			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>T	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			22	50	0	0	0	1	0	22	50				
EPHB4	2050	broad.mit.edu	37	7	100411306	100411306	+	Missense_Mutation	SNP	G	G	A	rs60537976		TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr7:100411306G>A	ENST00000358173.3	-	10	2192	c.1724C>T	c.(1723-1725)tCg>tTg	p.S575L	EPHB4_ENST00000477446.1_5'Flank|EPHB4_ENST00000360620.3_Missense_Mutation_p.S575L	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	575					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.S575L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GTGTTTGTCCGAATATTCTGC	0.493																																					GBM(200;2113 3072 25865 52728)	ENST00000358173.3																			1	Substitution - Missense(1)	p.S575L(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47						c.(1723-1725)tCg>tTg		EPH receptor B4							380.0	352.0	362.0					7																	100411306		2203	4300	6503	SO:0001583	missense	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100411306G>A	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.1724C>T	7.37:g.100411306G>A	ENSP00000350896:p.Ser575Leu					EPHB4_ENST00000360620.3_Missense_Mutation_p.S575L	p.S575L	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN			10	2192	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		575					B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	c.1724C>T	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881491	0.51908	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	T;T	0.11712	2.75;2.75	5.5	5.5	0.81552	.	0.000000	0.47852	D	0.000220	T	0.08179	0.0204	L	0.42632	1.34	0.43637	D	0.996033	P;D	0.56035	0.93;0.974	B;B	0.34489	0.095;0.184	T	0.32348	-0.9910	10	0.23891	T	0.37	.	12.586	0.56419	0.0:0.1672:0.8328:0.0	rs60537976	575;575	Q96L35;P54760	.;EPHB4_HUMAN	L	575	ENSP00000353833:S575L;ENSP00000350896:S575L	ENSP00000350896:S575L	S	-	2	0	EPHB4	100249242	1.000000	0.71417	0.880000	0.34516	0.691000	0.40173	4.102000	0.57776	2.577000	0.86979	0.655000	0.94253	TCG		0.493	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		5	291	0	0	0	1	0	5	291				
FUT5	2527	broad.mit.edu	37	19	5867557	5867557	+	Silent	SNP	A	A	G			TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr19:5867557A>G	ENST00000588525.1	-	2	267	c.180T>C	c.(178-180)aaT>aaC	p.N60N	FUT5_ENST00000252675.5_Silent_p.N60N	NM_002034.2	NP_002025.2	Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	60					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						AGCGGGACCCATTGGGAGCCC	0.632																																						ENST00000252675.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						c.(178-180)aaT>aaC		fucosyltransferase 5 (alpha (1,3) fucosyltransferase)							37.0	37.0	37.0					19																	5867557		2203	4300	6503	SO:0001819	synonymous_variant	2527				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity	g.chr19:5867557A>G		CCDS12154.1	19p13.3	2013-02-26				ENSG00000130383	2.4.1.65	"""Fucosyltransferases"""	4016	protein-coding gene	gene with protein product		136835				1740457	Standard	NM_002034		Approved	FUC-TV	uc002mdo.4	Q11128	OTTHUMG00000180616	ENST00000588525.1:c.180T>C	19.37:g.5867557A>G						FUT5_ENST00000588525.1_Silent_p.N60N	p.N60N			Q11128	FUT5_HUMAN			5	742	-			60					A8K4X2	Silent	SNP	ENST00000588525.1	37	c.180T>C	CCDS12154.1																																																																																				0.632	FUT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452213.1	NM_002034		12	24	0	0	0	1	0	12	24				
RNLS	55328	broad.mit.edu	37	10	90122340	90122340	+	Missense_Mutation	SNP	G	G	T			TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr10:90122340G>T	ENST00000331772.4	-	5	691	c.669C>A	c.(667-669)ttC>ttA	p.F223L	RNLS_ENST00000371947.3_Missense_Mutation_p.F223L|RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000437752.1_Missense_Mutation_p.F140L	NM_001031709.2	NP_001026879.2	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	223					cardiac left ventricle morphogenesis (GO:0003214)|dopamine metabolic process (GO:0042417)|epinephrine metabolic process (GO:0042414)|heart contraction (GO:0060047)|norepinephrine metabolic process (GO:0042415)|phosphate ion homeostasis (GO:0055062)|regulation of systemic arterial blood pressure (GO:0003073)|response to epinephrine (GO:0071871)|response to ischemia (GO:0002931)|response to norepinephrine (GO:0071873)|response to salt (GO:1902074)	extracellular space (GO:0005615)	oxidoreductase activity (GO:0016491)			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						CAATGGAGACGAAGCGTATGC	0.438																																						ENST00000371947.3																			0				breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						c.(667-669)ttC>ttA		renalase, FAD-dependent amine oxidase							165.0	155.0	158.0					10																	90122340		2203	4300	6503	SO:0001583	missense	55328					extracellular region	oxidoreductase activity	g.chr10:90122340G>T	BC005364	CCDS7388.1, CCDS31239.1	10q23.31	2009-04-22	2009-04-22	2009-04-22	ENSG00000184719	ENSG00000184719			25641	protein-coding gene	gene with protein product		609360	"""chromosome 10 open reading frame 59"""	C10orf59		15841207, 17565281	Standard	NM_001031709		Approved	FLJ11218, renalase	uc001kfe.3	Q5VYX0	OTTHUMG00000018692	ENST00000331772.4:c.669C>A	10.37:g.90122340G>T	ENSP00000332530:p.Phe223Leu					RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000331772.4_Missense_Mutation_p.F223L|RNLS_ENST00000437752.1_Missense_Mutation_p.F140L	p.F223L	NM_018363.3	NP_060833.1	Q5VYX0	RNLS_HUMAN			5	2008	-			223					Q9BS33|Q9NUP8	Missense_Mutation	SNP	ENST00000331772.4	37	c.669C>A	CCDS31239.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.493953	0.84962	.	.	ENSG00000184719	ENST00000371947;ENST00000437752;ENST00000331772	D;T;D	0.92199	-2.99;0.76;-2.99	6.07	5.17	0.71159	Amine oxidase (1);	0.047974	0.85682	D	0.000000	D	0.95595	0.8568	M	0.78049	2.395	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.998;0.987;0.954	D	0.95124	0.8249	10	0.41790	T	0.15	.	14.2474	0.65997	0.0724:0.0:0.9276:0.0	.	140;223;223	B4DJW3;Q5VYX0;Q5VYX0-2	.;RNLS_HUMAN;.	L	223;140;223	ENSP00000361015:F223L;ENSP00000387577:F140L;ENSP00000332530:F223L	ENSP00000332530:F223L	F	-	3	2	RNLS	90112320	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	5.552000	0.67281	1.576000	0.49790	0.585000	0.79938	TTC		0.438	RNLS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049250.1	NM_018363		27	43	1	0	2.48779e-11	1	2.56805e-11	27	43				
POLR1A	25885	broad.mit.edu	37	2	86276075	86276075	+	Missense_Mutation	SNP	T	T	C			TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr2:86276075T>C	ENST00000263857.6	-	18	2944	c.2566A>G	c.(2566-2568)Agg>Ggg	p.R856G	POLR1A_ENST00000409681.1_Missense_Mutation_p.R856G			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	856					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TTAAAATCCCTCTGGTCCTTG	0.473																																						ENST00000263857.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(2566-2568)Agg>Ggg		polymerase (RNA) I polypeptide A, 194kDa							122.0	116.0	118.0					2																	86276075		1941	4143	6084	SO:0001583	missense	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86276075T>C	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.2566A>G	2.37:g.86276075T>C	ENSP00000263857:p.Arg856Gly					POLR1A_ENST00000409681.1_Missense_Mutation_p.R856G	p.R856G			O95602	RPA1_HUMAN			18	2944	-			856					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.2566A>G	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	T	17.34	3.366143	0.61513	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.76968	-1.06;-1.06	5.57	-0.358	0.12575	RNA polymerase Rpb1, domain 4 (1);	0.045170	0.85682	D	0.000000	T	0.76047	0.3933	L	0.39245	1.2	0.49915	D	0.999835	P	0.47677	0.899	P	0.52598	0.703	T	0.75077	-0.3445	10	0.46703	T	0.11	-33.0327	14.1585	0.65432	0.0:0.0:0.4979:0.5021	.	856	O95602	RPA1_HUMAN	G	856	ENSP00000263857:R856G;ENSP00000386300:R856G	ENSP00000263857:R856G	R	-	1	2	POLR1A	86129586	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.711000	0.37930	0.077000	0.16863	0.533000	0.62120	AGG		0.473	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		22	55	0	0	0	1	0	22	55				
PAQR3	152559	broad.mit.edu	37	4	79860329	79860329	+	Missense_Mutation	SNP	T	T	C			TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr4:79860329T>C	ENST00000512733.1	-	1	263	c.50A>G	c.(49-51)tAc>tGc	p.Y17C	PAQR3_ENST00000380645.4_Missense_Mutation_p.Y17C|PAQR3_ENST00000295462.3_Missense_Mutation_p.Y17C	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	17					negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein phosphorylation (GO:0001933)|protein localization to Golgi apparatus (GO:0034067)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						CCAGTACTGGTAGCTGCCCAG	0.672																																						ENST00000512733.1																			0				breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						c.(49-51)tAc>tGc		progestin and adipoQ receptor family member III							76.0	74.0	75.0					4																	79860329		2203	4300	6503	SO:0001583	missense	152559					Golgi membrane|integral to membrane	receptor activity	g.chr4:79860329T>C	AK055774	CCDS34020.1	4q21	2008-02-05				ENSG00000163291			30130	protein-coding gene	gene with protein product		614577				16044242	Standard	XM_006714104		Approved		uc003hlp.1	Q6TCH7		ENST00000512733.1:c.50A>G	4.37:g.79860329T>C	ENSP00000421981:p.Tyr17Cys					PAQR3_ENST00000380645.4_Missense_Mutation_p.Y17C|PAQR3_ENST00000295462.3_Missense_Mutation_p.Y17C	p.Y17C	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN			1	263	-			17					A8K5B7|B3KP59|Q6PIQ1|Q86X05|Q8NCP9	Missense_Mutation	SNP	ENST00000512733.1	37	c.50A>G	CCDS34020.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.270433	0.80469	.	.	ENSG00000163291	ENST00000295462;ENST00000512733;ENST00000380645	T;T	0.35048	1.8;1.33	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.49270	0.1547	L	0.40543	1.245	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.52953	-0.8506	10	0.87932	D	0	-19.1189	13.6428	0.62263	0.0:0.0:0.0:1.0	.	17	Q6TCH7	PAQR3_HUMAN	C	17	ENSP00000421981:Y17C;ENSP00000370019:Y17C	ENSP00000295462:Y17C	Y	-	2	0	PAQR3	80079353	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	7.079000	0.76829	1.862000	0.54008	0.460000	0.39030	TAC		0.672	PAQR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363442.1	NM_177453		25	52	0	0	0	1	0	25	52				
OAS2	4939	broad.mit.edu	37	12	113442843	113442843	+	Silent	SNP	G	G	A			TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr12:113442843G>A	ENST00000342315.4	+	7	1498	c.1284G>A	c.(1282-1284)cgG>cgA	p.R428R	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_Silent_p.R428R	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	428	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AAAACGAGCGGCACAAAATCG	0.502																																					Pancreas(199;709 2232 18410 33584 35052)	ENST00000392583.2																			0				NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(1282-1284)cgG>cgA		2'-5'-oligoadenylate synthetase 2, 69/71kDa							85.0	79.0	81.0					12																	113442843		2203	4300	6503	SO:0001819	synonymous_variant	4939				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113442843G>A	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.1284G>A	12.37:g.113442843G>A						RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000342315.4_Silent_p.R428R	p.R428R	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN			7	1491	+			428			OAS domain 2.		A8K9T1|Q6PJ33|Q86XX8	Silent	SNP	ENST00000342315.4	37	c.1284G>A	CCDS31906.1																																																																																				0.502	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1			3	37	0	0	0	1	0	3	37				
GMIP	51291	broad.mit.edu	37	19	19747568	19747568	+	Silent	SNP	G	G	A			TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr19:19747568G>A	ENST00000203556.4	-	13	1412	c.1275C>T	c.(1273-1275)agC>agT	p.S425S	GMIP_ENST00000586269.1_5'Flank|GMIP_ENST00000587238.1_Silent_p.S425S|GMIP_ENST00000445806.2_Silent_p.S422S	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	425					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CGCCACCCACGCTGTCCACAT	0.637																																						ENST00000203556.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1273-1275)agC>agT		GEM interacting protein							60.0	63.0	62.0					19																	19747568		2203	4300	6503	SO:0001819	synonymous_variant	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19747568G>A	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.1275C>T	19.37:g.19747568G>A						GMIP_ENST00000445806.2_Silent_p.S422S|GMIP_ENST00000587238.1_Silent_p.S425S	p.S425S	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN			13	1412	-			425					A0AVN9|B7ZLZ0	Silent	SNP	ENST00000203556.4	37	c.1275C>T	CCDS12408.1																																																																																				0.637	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		20	35	0	0	0	1	0	20	35				
ALMS1	7840	broad.mit.edu	37	2	73677492	73677492	+	Missense_Mutation	SNP	G	G	A			TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr2:73677492G>A	ENST00000264448.6	+	8	3946	c.3835G>A	c.(3835-3837)Gct>Act	p.A1279T	ALMS1_ENST00000409009.1_Missense_Mutation_p.A1237T|ALMS1_ENST00000377715.1_Missense_Mutation_p.A1279T	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1279	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.A1279T(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TGGCACACCAGCTGTAACCTC	0.433																																						ENST00000264448.6																			1	Substitution - Missense(1)	p.A1279T(1)	urinary_tract(1)	breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(3835-3837)Gct>Act		Alstrom syndrome 1							87.0	89.0	88.0					2																	73677492		1835	4091	5926	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73677492G>A	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.3835G>A	2.37:g.73677492G>A	ENSP00000264448:p.Ala1279Thr					ALMS1_ENST00000409009.1_Missense_Mutation_p.A1237T|ALMS1_ENST00000377715.1_Missense_Mutation_p.A1279T	p.A1279T	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			8	3946	+			1279			34 X 47 AA approximate tandem repeat.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.3835G>A	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	0.138	-1.105576	0.01828	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.14893	3.37;3.37;2.47	4.44	-8.87	0.00792	.	.	.	.	.	T	0.02970	0.0088	N	0.01668	-0.77	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.27365	-1.0076	9	0.06757	T	0.87	.	0.6373	0.00804	0.1908:0.2119:0.2851:0.3122	.	1279;1237;1279	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	T	1237;1279;1279	ENSP00000386627:A1237T;ENSP00000264448:A1279T;ENSP00000366944:A1279T	ENSP00000264448:A1279T	A	+	1	0	ALMS1	73531000	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.877000	0.00344	-2.395000	0.00582	-1.298000	0.01336	GCT		0.433	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		4	106	0	0	0	1	0	4	106				
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529		TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677																																						ENST00000333822.4																			4	Substitution - Missense(4)	p.C95S(4)	endometrium(3)|kidney(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						c.(283-285)Tgc>Agc		keratin associated protein 4-8							7.0	11.0	10.0					17																	39254054		685	1582	2267	SO:0001583	missense	728224					keratin filament		g.chr17:39254054A>T	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.283T>A	17.37:g.39254054A>T	ENSP00000328444:p.Cys95Ser						p.C95S	NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN			1	339	-			95			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	c.283T>A	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	15.18	2.755714	0.49362	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.02280	4.36	3.11	2.01	0.26516	.	0.000000	0.52532	U	0.000067	T	0.04497	0.0123	M	0.83223	2.63	0.25182	N	0.99019	B	0.21606	0.058	B	0.27887	0.084	T	0.21793	-1.0235	10	0.54805	T	0.06	.	6.3859	0.21559	0.8715:0.0:0.1285:0.0	.	95	Q9BYQ9	KRA48_HUMAN	S	95;80	ENSP00000328444:C95S	ENSP00000414561:C80S	C	-	1	0	KRTAP4-8	36507580	0.999000	0.42202	0.393000	0.26258	0.649000	0.38597	3.122000	0.50446	0.404000	0.25506	0.374000	0.22700	TGC		0.677	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		4	42	0	0	0	1	0	4	42				
CC2D2A	57545	broad.mit.edu	37	4	15513007	15513007	+	Missense_Mutation	SNP	A	A	C	rs112367037|rs386833764	byFrequency	TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr4:15513007A>C	ENST00000503292.1	+	9	858	c.678A>C	c.(676-678)gaA>gaC	p.E226D	CC2D2A_ENST00000424120.1_Missense_Mutation_p.E226D|CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000389652.5_Missense_Mutation_p.E177D|CC2D2A_ENST00000413206.1_Missense_Mutation_p.E226D	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	226	Poly-Glu.				cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						AGGAAGGGGAAGAAGAAGAAC	0.448																																						ENST00000424120.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(676-678)gaA>gaC		coiled-coil and C2 domain containing 2A							100.0	97.0	98.0					4																	15513007		1948	4125	6073	SO:0001583	missense	57545				cell projection organization	cilium|microtubule basal body		g.chr4:15513007A>C	AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.678A>C	4.37:g.15513007A>C	ENSP00000421809:p.Glu226Asp					CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000503292.1_Missense_Mutation_p.E226D|CC2D2A_ENST00000389652.5_Missense_Mutation_p.E177D|CC2D2A_ENST00000413206.1_Missense_Mutation_p.E226D	p.E226D			Q9P2K1	C2D2A_HUMAN			8	932	+			226			Poly-Glu.		A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	ENST00000503292.1	37	c.678A>C	CCDS47026.1	.	.	.	.	.	.	.	.	.	.	A	8.116	0.779773	0.16120	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000512702;ENST00000503292;ENST00000389652	T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89	5.82	1.33	0.21861	.	0.180895	0.47455	D	0.000227	T	0.19208	0.0461	L	0.55481	1.735	0.80722	D	1	B;B;B	0.28933	0.001;0.228;0.087	B;B;B	0.25759	0.003;0.053;0.063	T	0.04593	-1.0940	10	0.39692	T	0.17	.	4.8686	0.13620	0.4382:0.1494:0.4123:0.0	.	226;177;226	Q9P2K1;Q9P2K1-2;C9JKY6	C2D2A_HUMAN;.;.	D	226;226;177;177;226;226;177	ENSP00000403465:E226D;ENSP00000398391:E226D;ENSP00000422875:E226D;ENSP00000421809:E226D;ENSP00000374303:E177D	ENSP00000374303:E177D	E	+	3	2	CC2D2A	15122105	1.000000	0.71417	0.634000	0.29324	0.053000	0.15095	0.489000	0.22387	-0.078000	0.12730	-0.248000	0.11899	GAA		0.448	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522		9	8	0	0	0	1	0	9	8				
RPGR	6103	broad.mit.edu	37	X	38146339	38146339	+	Intron	SNP	T	T	G			TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chrX:38146339T>G	ENST00000339363.3	-	14	2688				RPGR_ENST00000378505.2_Missense_Mutation_p.E638A|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000318842.7_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000338898.3_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						TGCCTTGCCTTCACTCACCTC	0.483																																						ENST00000378505.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						c.(1912-1914)gAa>gCa		retinitis pigmentosa GTPase regulator							317.0	229.0	259.0					X																	38146339		2202	4300	6502	SO:0001627	intron_variant	6103				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	g.chrX:38146339T>G	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2520+7A>C	X.37:g.38146339T>G						RPGR_ENST00000342811.3_Intron|RPGR_ENST00000339363.3_Intron|RPGR_ENST00000338898.3_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000318842.7_Intron	p.E638A	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN			15	2089	-			629			Glu-rich.		B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	ENST00000339363.3	37	c.1913A>C		.	.	.	.	.	.	.	.	.	.	t	9.574	1.121785	0.20877	.	.	ENSG00000156313	ENST00000378505	T	0.39056	1.1	3.0	3.0	0.34707	.	2.361020	0.03516	U	0.220324	T	0.39545	0.1082	M	0.62723	1.935	0.80722	D	1	P	0.37330	0.59	B	0.27262	0.078	T	0.45614	-0.9249	10	0.66056	D	0.02	.	6.985	0.24723	0.0:0.0:0.2304:0.7696	.	638	E9PE28	.	A	638	ENSP00000367766:E638A	ENSP00000367766:E638A	E	-	2	0	RPGR	38031283	0.919000	0.31177	0.864000	0.33941	0.388000	0.30384	0.046000	0.14035	1.038000	0.40049	0.289000	0.19496	GAA		0.483	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		48	78	0	0	0	1	0	48	78				
TFAP2C	7022	broad.mit.edu	37	20	55206271	55206271	+	Missense_Mutation	SNP	A	A	G			TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr20:55206271A>G	ENST00000201031.2	+	2	302	c.59A>G	c.(58-60)gAc>gGc	p.D20G	TFAP2C_ENST00000544508.1_5'UTR	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	20					cell-cell signaling (GO:0007267)|cerebral cortex development (GO:0021987)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|forebrain neuron fate commitment (GO:0021877)|germ-line stem cell maintenance (GO:0030718)|hair follicle development (GO:0001942)|keratinocyte development (GO:0003334)|male gonad development (GO:0008584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermis development (GO:0045682)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sebaceous gland development (GO:0048733)|somatic stem cell maintenance (GO:0035019)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			GATCGCCACGACGGGAGCAGC	0.662																																						ENST00000201031.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(58-60)gAc>gGc		transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)							42.0	52.0	49.0					20																	55206271		2203	4298	6501	SO:0001583	missense	7022				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr20:55206271A>G		CCDS13454.1	20q13.2	2008-07-17	2001-11-28		ENSG00000087510	ENSG00000087510			11744	protein-coding gene	gene with protein product	"""estrogen receptor factor 1"""	601602	"""transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma)"""			8661133	Standard	NM_003222		Approved	AP2-GAMMA, ERF1, TFAP2G, hAP-2g	uc002xya.3	Q92754	OTTHUMG00000032805	ENST00000201031.2:c.59A>G	20.37:g.55206271A>G	ENSP00000201031:p.Asp20Gly					TFAP2C_ENST00000544508.1_5'UTR	p.D20G	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	Colorectal(105;0.229)		2	302	+			20					B4DWK3|O00685|O00730|Q86V30|Q8IVB6|Q9P1X2	Missense_Mutation	SNP	ENST00000201031.2	37	c.59A>G	CCDS13454.1	.	.	.	.	.	.	.	.	.	.	A	16.91	3.252080	0.59212	.	.	ENSG00000087510	ENST00000201031;ENST00000416606	D;D	0.81579	-1.51;-1.51	5.52	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.79209	0.4407	M	0.71036	2.16	0.80722	D	1	P	0.48294	0.908	B	0.41860	0.368	T	0.80190	-0.1485	10	0.87932	D	0	-11.9025	11.3453	0.49556	0.9287:0.0:0.0713:0.0	.	20	Q92754	AP2C_HUMAN	G	20;8	ENSP00000201031:D20G;ENSP00000390857:D8G	ENSP00000201031:D20G	D	+	2	0	TFAP2C	54639678	1.000000	0.71417	0.993000	0.49108	0.008000	0.06430	8.371000	0.90123	0.936000	0.37367	-0.379000	0.06801	GAC		0.662	TFAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079823.2	NM_003222		12	45	0	0	0	1	0	12	45				
SCN2A	6326	broad.mit.edu	37	2	166172011	166172011	+	Missense_Mutation	SNP	A	A	G			TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr2:166172011A>G	ENST00000375437.2	+	11	1704	c.1414A>G	c.(1414-1416)Aga>Gga	p.R472G	SCN2A_ENST00000375427.2_Missense_Mutation_p.R472G|SCN2A_ENST00000283256.6_Missense_Mutation_p.R472G|SCN2A_ENST00000357398.3_Missense_Mutation_p.R472G	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	472					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGCTGAATCAAGAGACTTCAG	0.413																																						ENST00000375437.2																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(1414-1416)Aga>Gga		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						62.0	69.0	67.0					2																	166172011		2203	4299	6502	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166172011A>G	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.1414A>G	2.37:g.166172011A>G	ENSP00000364586:p.Arg472Gly					SCN2A_ENST00000375427.2_Missense_Mutation_p.R472G|SCN2A_ENST00000357398.3_Missense_Mutation_p.R472G|SCN2A_ENST00000283256.6_Missense_Mutation_p.R472G	p.R472G	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN			11	1704	+			472					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.1414A>G	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	A	13.18	2.159699	0.38119	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D;D	0.96427	-4.01;-3.99;-3.99;-3.99;-3.99	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000002	D	0.93207	0.7836	L	0.41824	1.3	0.32828	D	0.503632	B;P	0.39071	0.409;0.658	B;B	0.39590	0.237;0.304	D	0.93927	0.7211	10	0.25751	T	0.34	.	11.7228	0.51691	0.7302:0.2697:0.0:0.0	.	472;472	Q99250-2;Q99250	.;SCN2A_HUMAN	G	472	ENSP00000406454:R472G;ENSP00000364586:R472G;ENSP00000349973:R472G;ENSP00000283256:R472G;ENSP00000364576:R472G	ENSP00000283256:R472G	R	+	1	2	SCN2A	165880257	0.998000	0.40836	0.988000	0.46212	0.900000	0.52787	3.900000	0.56295	2.251000	0.74343	0.528000	0.53228	AGA		0.413	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		22	35	0	0	0	1	0	22	35				
VARS	7407	broad.mit.edu	37	6	31762953	31762953	+	Frame_Shift_Del	DEL	G	G	-			TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr6:31762953delG	ENST00000375663.3	-	2	482	c.42delC	c.(40-42)cccfs	p.P14fs	LSM2_ENST00000491421.1_5'Flank|VARS_ENST00000444930.2_Intron	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	14					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CTCGGAGGCTGGGGAAGGCAT	0.612																																						ENST00000375663.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30						c.(40-42)ccfs		valyl-tRNA synthetase	L-Valine(DB00161)						20.0	24.0	22.0					6																	31762953		1405	2430	3835	SO:0001589	frameshift_variant	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31762953delG	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.42delC	6.37:g.31762953delG	ENSP00000364815:p.Pro14fs					VARS_ENST00000444930.2_Intron	p.P14fs	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN			2	482	-			14					B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Frame_Shift_Del	DEL	ENST00000375663.3	37	c.42delC	CCDS34412.1																																																																																				0.612	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		2	4						2	4	---	---	---	---
SKIDA1	387640	broad.mit.edu	37	10	21805466	21805467	+	In_Frame_Ins	INS	-	-	CCTCCT	rs112207161	byFrequency	TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr10:21805466_21805467insCCTCCT	ENST00000449193.2	-	4	3537_3538	c.1285_1286insAGGAGG	c.(1285-1287)ggg>gAGGAGGgg	p.428_429insEE	SKIDA1_ENST00000487107.1_5'Flank|SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insEE	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	347						nucleus (GO:0005634)		p.E428_G429insEE(2)									CCCGCTGCccccctcctcctcc	0.619														2708	0.540735	0.916	0.4063	5008	,	,		10303	0.3244		0.5408	False		,,,				2504	0.3517					ENST00000449193.2																			2	Insertion - In frame(2)	p.E428_G429insEE(2)	soft_tissue(2)								c.(1285-1287)ggg>AGGAGGggg		SKI/DACH domain containing 1				3173,56,18,597		1435,46,11,246,5,0,0,3,1,175						3.0	1.0		dbSNP_132	7	4189,51,27,3619		1322,36,14,1495,1,0,13,2,9,1051	no	codingComplex	C10orf140	NM_207371.3		2757,82,25,1741,6,0,13,5,10,1226	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		46.8805,17.4558,37.2379				7362,107,45,4216				SO:0001652	inframe_insertion	387640							g.chr10:21805466_21805467insCCTCCT	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1280_1285dupAGGAGG	10.37:g.21805467_21805472dupCCTCCT	ENSP00000410041:p.Glu427_Glu428dup					SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insRR	p.428_429insRR	NM_207371.3	NP_997254.3					4	3537_3538	-								B1ANA5|Q6ZMX4|Q8N3C3	In_Frame_Ins	INS	ENST00000449193.2	37	c.1285_1286insAGGAGG	CCDS44363.1																																																																																				0.619	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		5	1						5	1	---	---	---	---
PNLIPRP2	5408	broad.mit.edu	37	10	118396277	118396278	+	RNA	INS	-	-	T	rs376717445|rs199682553|rs112820043|rs11197776	byFrequency	TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr10:118396277_118396278insT	ENST00000298771.7	+	0	961				PNLIPRP2_ENST00000537242.1_RNA|PNLIPRP2_ENST00000433618.4_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GACAAATTATGGTTTTTTTTTT	0.421													-|-|T|insertion	732	0.146166	0.0136	0.1686	5008	,	,		20647	0.3413		0.1252	False		,,,				2504	0.1299					ENST00000537242.1																			0				endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16								pancreatic lipase-related protein 2																																						5408				galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity	g.chr10:118396277_118396278insT	M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118396277_118396278insT						PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA		NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN		all cancers(201;0.015)	0	962	+								A8K627|Q6IB55	RNA	INS	ENST00000298771.7	37																																																																																						0.421	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	NM_005396		2	4						2	4	---	---	---	---
SPON1	10418	broad.mit.edu	37	11	14063263	14063263	+	RNA	DEL	A	A	-	rs113227652|rs369622005		TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr11:14063263delA	ENST00000310358.7	+	0	1017							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GATTGCAGGGAAAAAAAAAAA	0.423																																						ENST00000310358.7																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21								spondin 1, extracellular matrix protein																																						10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14063263delA	AB018305	CCDS73262.1	11p15.2	2014-05-06	2004-03-05		ENSG00000152268	ENSG00000262655			11252	protein-coding gene	gene with protein product		604989	"""spondin 1, (f-spondin) extracellular matrix protein"""			9872452	Standard	NM_006108		Approved	KIAA0762, f-spondin	uc001mle.3	Q9HCB6	OTTHUMG00000181576		11.37:g.14063263delA										Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	0	1017	+								A8K6W5|O94862|Q8NCD7|Q8WUR5	RNA	DEL	ENST00000310358.7	37																																																																																						0.423	SPON1-201	KNOWN	basic	processed_transcript	processed_transcript		NM_145584		4	9						4	9	---	---	---	---
PIGB	9488	broad.mit.edu	37	15	55631503	55631503	+	Frame_Shift_Del	DEL	T	T	-			TCGA-W2-A7HH-01A-11D-A35I-08	TCGA-W2-A7HH-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5814ba13-d1f1-47d0-bfb7-0175d03fbe9e	4f151f1e-f37e-4d90-b9a2-83ec2e1700ec	g.chr15:55631503delT	ENST00000164305.5	+	7	1124	c.833delT	c.(832-834)attfs	p.I278fs	PIGB_ENST00000539642.1_Frame_Shift_Del_p.I83fs|CCPG1_ENST00000563294.1_5'Flank	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	278					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		ATTGATCGTATTTTTTTTGGC	0.284																																						ENST00000164305.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11						c.(832-834)atfs		phosphatidylinositol glycan anchor biosynthesis, class B				11,43,3402		0,0,11,0,43,1674	132.0	109.0	116.0			4.4	1.0	15		117	28,109,7593		0,0,28,3,103,3731	no	codingComplex	PIGB	NM_004855.4		0,0,39,3,146,5405	A1A1,A1A2,A1R,A2A2,A2R,RR		1.7723,1.5625,1.7075			55631503	39,152,10995	1790	4032	5822	SO:0001589	frameshift_variant	9488				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity	g.chr15:55631503delT	D42138	CCDS61641.1	15q21.3	2013-02-26	2006-06-28		ENSG00000069943	ENSG00000069943		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	8959	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 3"", ""dol-P-Man dependent GPI mannosyltransferase"""	604122	"""phosphatidylinositol glycan, class B"""			8861954	Standard	NM_004855		Approved		uc002act.3	Q92521	OTTHUMG00000172654	ENST00000164305.5:c.833delT	15.37:g.55631503delT	ENSP00000164305:p.Ile278fs					PIGB_ENST00000539642.1_Frame_Shift_Del_p.I83fs	p.I278fs	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN		all cancers(107;0.0255)	7	1124	+			278					Q53FF9|Q8WVN7	Frame_Shift_Del	DEL	ENST00000164305.5	37	c.833delT																																																																																					0.284	PIGB-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000419687.1	NM_004855		2	4						2	4	---	---	---	---
