#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
ATP4A	495	broad.mit.edu	37	19	36046221	36046221	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr19:36046221C>T	ENST00000262623.3	-	15	2201	c.2173G>A	c.(2173-2175)Gtc>Atc	p.V725I		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	725					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	TCCCCCGTGACGGCCACAATC	0.632																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(2173-2175)Gtc>Atc		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						53.0	48.0	49.0					19																	36046221		2203	4300	6503	SO:0001583	missense	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36046221C>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.2173G>A	19.37:g.36046221C>T	ENSP00000262623:p.Val725Ile						p.V725I	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		15	2201	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		725					O00738	Missense_Mutation	SNP	ENST00000262623.3	37	c.2173G>A	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.651293	0.88056	.	.	ENSG00000105675	ENST00000262623	D	0.96232	-3.95	5.03	5.03	0.67393	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.64402	D	0.000005	D	0.98698	0.9563	H	0.97732	4.065	0.58432	D	0.999999	D	0.56968	0.978	D	0.63283	0.913	D	0.99457	1.0942	10	0.87932	D	0	.	15.9038	0.79403	0.0:1.0:0.0:0.0	.	725	P20648	ATP4A_HUMAN	I	725	ENSP00000262623:V725I	ENSP00000262623:V725I	V	-	1	0	ATP4A	40738061	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.651000	0.83577	2.619000	0.88677	0.462000	0.41574	GTC		0.632	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		4	35	0	0	0	1	0	4	35				
KRT24	192666	broad.mit.edu	37	17	38859836	38859836	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr17:38859836C>T	ENST00000264651.2	-	1	166	c.110G>A	c.(109-111)gGc>gAc	p.G37D		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	37	Gly-rich.|Head.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				GGCCGAGCTGCCCCCCAGACC	0.662																																					GBM(61;380 1051 14702 23642 31441)	ENST00000264651.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(109-111)gGc>gAc		keratin 24							41.0	45.0	44.0					17																	38859836		2203	4300	6503	SO:0001583	missense	192666					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38859836C>T		CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.110G>A	17.37:g.38859836C>T	ENSP00000264651:p.Gly37Asp						p.G37D	NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN			1	166	-		Breast(137;0.00526)	37			Gly-rich.|Head.		Q9NXG7	Missense_Mutation	SNP	ENST00000264651.2	37	c.110G>A	CCDS11372.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.575158	0.28092	.	.	ENSG00000167916	ENST00000264651	D	0.83992	-1.79	5.05	3.02	0.34903	.	.	.	.	.	T	0.76219	0.3957	L	0.45581	1.43	0.32313	N	0.563516	P	0.41313	0.745	B	0.38562	0.276	T	0.76713	-0.2858	9	0.48119	T	0.1	.	8.9798	0.35957	0.0:0.7671:0.1492:0.0838	.	37	Q2M2I5	K1C24_HUMAN	D	37	ENSP00000264651:G37D	ENSP00000264651:G37D	G	-	2	0	KRT24	36113362	0.001000	0.12720	0.477000	0.27303	0.121000	0.20230	0.898000	0.28404	0.618000	0.30179	0.563000	0.77884	GGC		0.662	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	NM_019016		46	68	0	0	0	1	0	46	68				
PPP1R26	9858	broad.mit.edu	37	9	138377236	138377236	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr9:138377236C>T	ENST00000356818.2	+	4	1429	c.880C>T	c.(880-882)Cgg>Tgg	p.R294W	PPP1R26_ENST00000604351.1_Missense_Mutation_p.R294W|PPP1R26_ENST00000605660.1_Missense_Mutation_p.R294W|PPP1R26_ENST00000605286.1_Missense_Mutation_p.R294W|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Missense_Mutation_p.R294W	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	294					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										CAAACCTCCCCGGTTAGCGAA	0.617																																						ENST00000356818.2																			0											c.(880-882)Cgg>Tgg		protein phosphatase 1, regulatory subunit 26							63.0	69.0	67.0					9																	138377236		2203	4300	6503	SO:0001583	missense	9858					nucleolus	protein binding	g.chr9:138377236C>T	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.880C>T	9.37:g.138377236C>T	ENSP00000349274:p.Arg294Trp					PPP1R26_ENST00000604351.1_Missense_Mutation_p.R294W|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Missense_Mutation_p.R294W|PPP1R26_ENST00000605660.1_Missense_Mutation_p.R294W|PPP1R26_ENST00000605286.1_Missense_Mutation_p.R294W	p.R294W	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN			4	1429	+			294					Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	ENST00000356818.2	37	c.880C>T	CCDS6988.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528727	0.64860	.	.	ENSG00000196422	ENST00000356818	T	0.11930	2.73	5.61	-6.11	0.02131	.	0.696787	0.13550	N	0.379536	T	0.26810	0.0656	L	0.56769	1.78	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.08027	-1.0742	10	0.87932	D	0	-25.6182	12.7604	0.57361	0.3157:0.6079:0.0764:0.0	.	294	Q5T8A7	PPR26_HUMAN	W	294	ENSP00000349274:R294W	ENSP00000349274:R294W	R	+	1	2	KIAA0649	137517057	0.032000	0.19561	0.003000	0.11579	0.002000	0.02628	0.095000	0.15127	-0.970000	0.03569	-0.274000	0.10170	CGG		0.617	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		26	124	0	0	0	1	0	26	124				
LGR6	59352	broad.mit.edu	37	1	202288165	202288165	+	Silent	SNP	C	C	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr1:202288165C>T	ENST00000367278.3	+	18	2823	c.2734C>T	c.(2734-2736)Ctg>Ttg	p.L912L	LGR6_ENST00000255432.7_Silent_p.L860L|LGR6_ENST00000439764.2_Silent_p.L773L	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	912					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GGCCCCCAGGCTGGAGGGCAG	0.627																																						ENST00000367278.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						c.(2734-2736)Ctg>Ttg		leucine-rich repeat containing G protein-coupled receptor 6							42.0	49.0	47.0					1																	202288165		2203	4300	6503	SO:0001819	synonymous_variant	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202288165C>T	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.2734C>T	1.37:g.202288165C>T						LGR6_ENST00000255432.7_Silent_p.L860L|LGR6_ENST00000439764.2_Silent_p.L773L	p.L912L	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN			18	2823	+			912					Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Silent	SNP	ENST00000367278.3	37	c.2734C>T	CCDS30971.1																																																																																				0.627	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		36	65	0	0	0	1	0	36	65				
SEC61B	10952	broad.mit.edu	37	9	101983309	101983309	+	5'Flank	SNP	T	T	G			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr9:101983309T>G	ENST00000223641.4	+	0	0				ALG2_ENST00000476832.1_Intron|ALG2_ENST00000319033.6_Silent_p.V7V|SEC61B_ENST00000498603.1_5'Flank	NM_006808.2	NP_006799.1	P60468	SC61B_HUMAN	Sec61 beta subunit						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|gene expression (GO:0010467)|protein import into nucleus, translocation (GO:0000060)|retrograde protein transport, ER to cytosol (GO:0030970)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum Sec complex (GO:0031205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	epidermal growth factor binding (GO:0048408)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			kidney(1)|large_intestine(1)	2		Acute lymphoblastic leukemia(62;0.0559)				GGGAGCCATGTACAAGTTTTA	0.448																																						ENST00000319033.6																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22						c.(19-21)gtA>gtC		ALG2, alpha-1,3/1,6-mannosyltransferase							242.0	243.0	243.0					9																	101983309		876	1991	2867	SO:0001631	upstream_gene_variant	85365				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding	g.chr9:101983309T>G	L25085	CCDS6741.1	9q22.32-q31.3	2009-03-19			ENSG00000106803	ENSG00000106803			16993	protein-coding gene	gene with protein product		609214				8107851, 10212142	Standard	NM_006808		Approved		uc004azh.3	P60468	OTTHUMG00000020354		9.37:g.101983309T>G	Exception_encountered					ALG2_ENST00000476832.1_Intron	p.V7V			Q9H553	ALG2_HUMAN			1	20	-		Acute lymphoblastic leukemia(62;0.0559)	0					P38390|P38391|Q6IBC1	Silent	SNP	ENST00000223641.4	37	c.21A>C	CCDS6741.1																																																																																				0.448	SEC61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053391.1	NM_006808		5	213	0	0	0	1	0	5	213				
DNAJC21	134218	broad.mit.edu	37	5	34937583	34937583	+	Missense_Mutation	SNP	A	A	C			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr5:34937583A>C	ENST00000342382.4	+	5	818	c.591A>C	c.(589-591)aaA>aaC	p.K197N	DNAJC21_ENST00000382021.2_Missense_Mutation_p.K197N|DNAJC21_ENST00000303525.7_Missense_Mutation_p.K197N			Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	197					protein folding (GO:0006457)	ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			AAGCAAGGAAAGAGAAGAATG	0.428																																						ENST00000382021.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21						c.(589-591)aaA>aaC		DnaJ (Hsp40) homolog, subfamily C, member 21							62.0	70.0	68.0					5																	34937583		2203	4300	6503	SO:0001583	missense	134218				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding	g.chr5:34937583A>C		CCDS3907.2, CCDS34144.1	5p13-p12	2012-10-05			ENSG00000168724	ENSG00000168724		"""Heat shock proteins / DNAJ (HSP40)"""	27030	protein-coding gene	gene with protein product	"""JJJ1 DnaJ domain protein homolog (S. cerevisiae)"""					15067379	Standard	XM_005248250		Approved	GS3, DNAJA5, JJJ1	uc003jjc.3	Q5F1R6	OTTHUMG00000074103	ENST00000342382.4:c.591A>C	5.37:g.34937583A>C	ENSP00000343728:p.Lys197Asn					DNAJC21_ENST00000303525.7_Missense_Mutation_p.K197N|DNAJC21_ENST00000342382.4_Missense_Mutation_p.K197N	p.K197N	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		5	818	+	all_lung(31;7.08e-05)		197					Q3B7J9|Q6P086|Q6ZS43|Q86VC6	Missense_Mutation	SNP	ENST00000342382.4	37	c.591A>C	CCDS34144.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.215294	0.79352	.	.	ENSG00000168724	ENST00000342382;ENST00000382021;ENST00000303525	T;T;T	0.55930	0.55;0.5;0.49	5.39	2.98	0.34508	.	0.048094	0.85682	D	0.000000	T	0.67859	0.2938	M	0.78223	2.4	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.76575	0.973;0.969;0.988	T	0.68142	-0.5487	10	0.62326	D	0.03	-16.0482	7.5634	0.27864	0.6814:0.0:0.3186:0.0	.	197;197;197	Q5F1R6-3;Q5F1R6;Q5F1R6-2	.;DJC21_HUMAN;.	N	197	ENSP00000343728:K197N;ENSP00000371451:K197N;ENSP00000306289:K197N	ENSP00000306289:K197N	K	+	3	2	DNAJC21	34973340	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.243000	0.32767	0.960000	0.38005	0.528000	0.53228	AAA		0.428	DNAJC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157337.1	NM_194283		9	63	0	0	0	1	0	9	63				
EPPK1	83481	broad.mit.edu	37	8	144942068	144942068	+	Missense_Mutation	SNP	C	C	T	rs189786019		TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr8:144942068C>T	ENST00000525985.1	-	2	5425	c.5354G>A	c.(5353-5355)cGc>cAc	p.R1785H				P58107	EPIPL_HUMAN	epiplakin 1	1785						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.R1785H(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTCCCCACGCGCATTTTTGC	0.512													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20207	0.0		0.0	False		,,,				2504	0.0					ENST00000525985.1																			1	Substitution - Missense(1)	p.R1785H(1)	central_nervous_system(1)	NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(5353-5355)cGc>cAc		epiplakin 1							106.0	104.0	105.0					8																	144942068		1976	4159	6135	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144942068C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.5354G>A	8.37:g.144942068C>T	ENSP00000436337:p.Arg1785His						p.R1785H			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	5425	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1785					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.5354G>A		.	.	.	.	.	.	.	.	.	.	C	8.588	0.883842	0.17467	.	.	ENSG00000227184	ENST00000525985	T	0.66815	-0.23	5.2	-5.35	0.02697	.	.	.	.	.	T	0.33352	0.0860	N	0.03608	-0.345	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.13229	-1.0517	9	0.35671	T	0.21	.	3.5406	0.07809	0.1056:0.3692:0.1071:0.4181	.	1785	E9PPU0	.	H	1785	ENSP00000436337:R1785H	ENSP00000436337:R1785H	R	-	2	0	EPPK1	145014056	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-0.582000	0.05814	-0.436000	0.07254	-1.329000	0.01275	CGC		0.512	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		4	56	0	0	0	1	0	4	56				
CD1A	909	broad.mit.edu	37	1	158226067	158226067	+	Missense_Mutation	SNP	G	G	A	rs200394336		TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr1:158226067G>A	ENST00000289429.5	+	3	1132	c.599G>A	c.(598-600)cGg>cAg	p.R200Q		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	200	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CATCTCCAGCGGCAAGGTCAG	0.463																																						ENST00000289429.5																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32						c.(598-600)cGg>cAg		CD1a molecule	Antithymocyte globulin(DB00098)						112.0	94.0	100.0					1																	158226067		2203	4300	6503	SO:0001583	missense	909				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		g.chr1:158226067G>A	M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1634	protein-coding gene	gene with protein product		188370	"""CD1A antigen, a polypeptide"", ""CD1a antigen"""	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.599G>A	1.37:g.158226067G>A	ENSP00000289429:p.Arg200Gln						p.R200Q	NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN			3	1132	+	all_hematologic(112;0.0378)		200			Ig-like.		D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Missense_Mutation	SNP	ENST00000289429.5	37	c.599G>A	CCDS1174.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.019768	0.35606	.	.	ENSG00000158477	ENST00000289429	T	0.19394	2.15	4.23	1.07	0.20283	Immunoglobulin-like (1);MHC classes I/II-like antigen recognition protein (1);	0.232513	0.21411	N	0.074965	T	0.12561	0.0305	M	0.83692	2.655	0.09310	N	1	D	0.65815	0.995	P	0.45343	0.477	T	0.07849	-1.0751	10	0.54805	T	0.06	-16.0605	3.9433	0.09338	0.2098:0.0:0.6045:0.1857	.	200	P06126	CD1A_HUMAN	Q	200	ENSP00000289429:R200Q	ENSP00000289429:R200Q	R	+	2	0	CD1A	156492691	0.004000	0.15560	0.000000	0.03702	0.002000	0.02628	1.525000	0.35953	0.428000	0.26173	-0.244000	0.11960	CGG		0.463	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763		9	74	0	0	0	1	0	9	74				
LRBA	987	broad.mit.edu	37	4	151271293	151271293	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr4:151271293C>A	ENST00000357115.3	-	49	7489	c.7246G>T	c.(7246-7248)Gtt>Ttt	p.V2416F	LRBA_ENST00000535741.1_Missense_Mutation_p.V2405F|LRBA_ENST00000510413.1_Missense_Mutation_p.V2405F|LRBA_ENST00000507224.1_Missense_Mutation_p.V2405F|LRBA_ENST00000503716.1_5'UTR	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2416	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.					cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGGCAGGAAACAAATTCACTC	0.378																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(7213-7215)Gtt>Ttt		LPS-responsive vesicle trafficking, beach and anchor containing							78.0	74.0	76.0					4																	151271293		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151271293C>A	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.7246G>T	4.37:g.151271293C>A	ENSP00000349629:p.Val2416Phe					LRBA_ENST00000507224.1_Missense_Mutation_p.V2405F|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000357115.3_Missense_Mutation_p.V2416F|LRBA_ENST00000510413.1_Missense_Mutation_p.V2405F	p.V2405F			P50851	LRBA_HUMAN			48	7686	-	all_hematologic(180;0.151)		2416			BEACH.		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.7213G>T	CCDS3773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.8|28.8	4.953948|4.953948	0.92660|0.92660	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000509835|ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	.|T;T;T;T	.|0.74737	.|-0.87;-0.87;-0.87;-0.87	5.69|5.69	5.69|5.69	0.88448|0.88448	.|BEACH domain (4);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91576|0.91576	0.7339|0.7339	H|H	0.97186|0.97186	3.955|3.955	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	D|D	0.93826|0.93826	0.7123|0.7123	5|10	.|0.87932	.|D	.|0	.|.	19.8155|19.8155	0.96566|0.96566	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2416;2405;306	.|P50851;P50851-2;Q68D03	.|LRBA_HUMAN;.;.	F|F	1057|2405;2405;2416;2405	.|ENSP00000446299:V2405F;ENSP00000421552:V2405F;ENSP00000349629:V2416F;ENSP00000422180:V2405F	.|ENSP00000349629:V2416F	L|V	-|-	3|1	2|0	LRBA|LRBA	151490743|151490743	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.818000|7.818000	0.86416|0.86416	2.691000|2.691000	0.91804|0.91804	0.563000|0.563000	0.77884|0.77884	TTG|GTT		0.378	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			21	34	1	0	1.22574e-08	1	1.25127e-08	21	34				
PTDSS1	9791	broad.mit.edu	37	8	97321825	97321825	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr8:97321825G>A	ENST00000517309.1	+	9	1374	c.1048G>A	c.(1048-1050)Gta>Ata	p.V350I	PTDSS1_ENST00000455950.2_Missense_Mutation_p.V204I|PTDSS1_ENST00000522072.1_Missense_Mutation_p.V147I|Y_RNA_ENST00000362862.1_RNA	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	350					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	GTGCAAGCGCGTAGGAACACA	0.433																																						ENST00000517309.1																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29						c.(1048-1050)Gta>Ata		phosphatidylserine synthase 1	Phosphatidylserine(DB00144)						97.0	90.0	92.0					8																	97321825		2203	4300	6503	SO:0001583	missense	9791				phosphatidylserine biosynthetic process	integral to membrane	transferase activity	g.chr8:97321825G>A	D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.1048G>A	8.37:g.97321825G>A	ENSP00000430548:p.Val350Ile					PTDSS1_ENST00000455950.2_Missense_Mutation_p.V204I|PTDSS1_ENST00000522072.1_Missense_Mutation_p.V147I	p.V350I	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN			9	1374	+	Breast(36;6.18e-05)		350					E5RFC5|Q9BUQ5	Missense_Mutation	SNP	ENST00000517309.1	37	c.1048G>A	CCDS6271.1	.	.	.	.	.	.	.	.	.	.	G	33	5.211441	0.95069	.	.	ENSG00000156471	ENST00000517309;ENST00000455950;ENST00000522072	T;T;T	0.48836	0.84;0.86;0.8	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.47284	0.1437	L	0.32530	0.975	0.80722	D	1	P	0.51240	0.943	P	0.48270	0.572	T	0.29366	-1.0014	10	0.34782	T	0.22	-13.7834	18.224	0.89911	0.0:0.0:1.0:0.0	.	350	P48651	PTSS1_HUMAN	I	350;204;147	ENSP00000430548:V350I;ENSP00000401248:V204I;ENSP00000430928:V147I	ENSP00000401248:V204I	V	+	1	0	PTDSS1	97391001	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.837000	0.99465	2.731000	0.93534	0.650000	0.86243	GTA		0.433	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2			21	31	0	0	0	1	0	21	31				
TLR1	7096	broad.mit.edu	37	4	38800242	38800242	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr4:38800242G>T	ENST00000502213.2	-	3	440	c.211C>A	c.(211-213)Ctg>Atg	p.L71M	TLR1_ENST00000308979.2_Missense_Mutation_p.L71M			Q15399	TLR1_HUMAN	toll-like receptor 1	71					cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						AAAATCCTCAGTTTTGACAGT	0.333																																					GBM(5;216 373 40795 46382)	ENST00000308979.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						c.(211-213)Ctg>Atg		toll-like receptor 1							103.0	114.0	111.0					4																	38800242		2202	4299	6501	SO:0001583	missense	7096				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity	g.chr4:38800242G>T	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"""CD molecules"""	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.211C>A	4.37:g.38800242G>T	ENSP00000421259:p.Leu71Met					TLR1_ENST00000502213.2_Missense_Mutation_p.L71M	p.L71M	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN			4	484	-			71					D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Missense_Mutation	SNP	ENST00000502213.2	37	c.211C>A	CCDS33973.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846303	0.51164	.	.	ENSG00000174125	ENST00000308979;ENST00000502213;ENST00000505940;ENST00000515861	T;T;T;D	0.95554	0.12;0.12;2.09;-3.74	4.93	4.93	0.64822	.	0.000000	0.51477	D	0.000099	D	0.97636	0.9225	M	0.86651	2.83	0.58432	D	0.999994	D	0.89917	1.0	D	0.85130	0.997	D	0.97717	1.0194	10	0.87932	D	0	.	12.0942	0.53744	0.0784:0.0:0.9216:0.0	.	71	Q15399	TLR1_HUMAN	M	71	ENSP00000354932:L71M;ENSP00000421259:L71M;ENSP00000421856:L71M;ENSP00000423017:L71M	ENSP00000354932:L71M	L	-	1	2	TLR1	38476637	1.000000	0.71417	0.992000	0.48379	0.159000	0.22180	4.107000	0.57811	2.713000	0.92767	0.655000	0.94253	CTG		0.333	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			25	137	1	0	5.61819e-17	1	5.85726e-17	25	137				
OC90	729330	broad.mit.edu	37	8	133053772	133053772	+	Splice_Site	SNP	C	C	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr8:133053772C>T	ENST00000443356.2	-	5	430	c.344G>A	c.(343-345)aGc>aAc	p.S115N	OC90_ENST00000262283.5_Splice_Site_p.S311N|OC90_ENST00000603859.1_Splice_Site_p.S115N|OC90_ENST00000254627.3_Splice_Site_p.S115N			Q02509	OC90_HUMAN	otoconin 90	115	Phospholipase A2-like 1.				lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			ACTCACTTACCTGTCAGATTC	0.512																																						ENST00000262283.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37						c.e8+1		otoconin 90							44.0	44.0	44.0					8																	133053772		1954	4147	6101	SO:0001630	splice_region_variant	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133053772C>T	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.344+1G>A	8.37:g.133053772C>T						OC90_ENST00000443356.2_Splice_Site_p.S115_splice|OC90_ENST00000603859.1_Splice_Site_p.S115_splice|OC90_ENST00000254627.3_Splice_Site_p.S115_splice	p.S311_splice			Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		8	1031	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		115					B4DNG8	Splice_Site	SNP	ENST00000443356.2	37	c.932_splice		.	.	.	.	.	.	.	.	.	.	C	12.09	1.833271	0.32421	.	.	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	T;T;T	0.26660	1.72;1.72;1.72	4.4	3.51	0.40186	Phospholipase A2 (3);	0.453258	0.24937	N	0.034413	T	0.34658	0.0905	L	0.61387	1.9	0.20196	N	0.999928	P;P	0.45011	0.817;0.848	P;P	0.53760	0.615;0.734	T	0.11817	-1.0572	9	.	.	.	-5.1649	5.244	0.15487	0.2036:0.6833:0.0:0.1131	.	115;115	Q02509-2;Q02509	.;OC90_HUMAN	N	115;115;311	ENSP00000254627:S115N;ENSP00000390050:S115N;ENSP00000262283:S311N	.	S	-	2	0	RP11-240B13.2;OC90	133122954	1.000000	0.71417	1.000000	0.80357	0.332000	0.28634	1.154000	0.31688	0.786000	0.33708	0.591000	0.81541	AGC		0.512	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399	Missense_Mutation	24	35	0	0	0	1	0	24	35				
NRP1	8829	broad.mit.edu	37	10	33481224	33481224	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr10:33481224T>C	ENST00000265371.4	-	14	2572	c.2047A>G	c.(2047-2049)Att>Gtt	p.I683V	NRP1_ENST00000374867.2_Missense_Mutation_p.I683V|NRP1_ENST00000395995.1_Missense_Mutation_p.I683V|NRP1_ENST00000374875.1_Missense_Mutation_p.I495V			O14786	NRP1_HUMAN	neuropilin 1	683	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TGATCCTGAATGGGTCCCGTC	0.507																																					Melanoma(104;886 1489 44640 45944 51153)	ENST00000265371.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48						c.(2047-2049)Att>Gtt		neuropilin 1	Palifermin(DB00039)|Pegaptanib(DB04895)						314.0	266.0	282.0					10																	33481224		2203	4300	6503	SO:0001583	missense	8829				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	g.chr10:33481224T>C	AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.2047A>G	10.37:g.33481224T>C	ENSP00000265371:p.Ile683Val					NRP1_ENST00000374867.2_Missense_Mutation_p.I683V|NRP1_ENST00000395995.1_Missense_Mutation_p.I683V	p.I683V			O14786	NRP1_HUMAN			14	2572	-			683			MAM.		B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	ENST00000265371.4	37	c.2047A>G	CCDS7177.1	.	.	.	.	.	.	.	.	.	.	T	9.246	1.039569	0.19669	.	.	ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000395995	T;T;T;T	0.02067	4.47;4.47;4.47;4.47	5.83	5.83	0.93111	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.095103	0.64402	D	0.000001	T	0.01627	0.0052	N	0.04880	-0.145	0.80722	D	1	B;B;B;B;B	0.12013	0.001;0.005;0.001;0.001;0.001	B;B;B;B;B	0.19946	0.007;0.027;0.007;0.007;0.002	T	0.61004	-0.7150	10	0.41790	T	0.15	-19.7154	10.5336	0.44992	0.0:0.0717:0.0:0.9283	.	676;683;683;495;683	A8K9V7;Q68DN3;O14786;Q5JWQ6;E9PEP6	.;.;NRP1_HUMAN;.;.	V	683;495;683;683	ENSP00000265371:I683V;ENSP00000364009:I495V;ENSP00000364001:I683V;ENSP00000379317:I683V	ENSP00000265371:I683V	I	-	1	0	NRP1	33521230	1.000000	0.71417	0.970000	0.41538	0.996000	0.88848	4.679000	0.61649	2.236000	0.73375	0.533000	0.62120	ATT		0.507	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			115	202	0	0	0	1	0	115	202				
BTBD11	121551	broad.mit.edu	37	12	108004038	108004038	+	Missense_Mutation	SNP	T	T	A			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr12:108004038T>A	ENST00000280758.5	+	5	2243	c.1715T>A	c.(1714-1716)cTg>cAg	p.L572Q	BTBD11_ENST00000357167.4_Missense_Mutation_p.L109Q|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000420571.2_Missense_Mutation_p.L572Q|BTBD11_ENST00000490090.2_Missense_Mutation_p.L572Q	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	572						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AAGCAGGACCTGGGTTTCCGG	0.562											OREG0022090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000280758.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(1714-1716)cTg>cAg		BTB (POZ) domain containing 11							150.0	130.0	137.0					12																	108004038		2203	4300	6503	SO:0001583	missense	121551					integral to membrane	DNA binding	g.chr12:108004038T>A	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1715T>A	12.37:g.108004038T>A	ENSP00000280758:p.Leu572Gln		OREG0022090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	BTBD11_ENST00000490090.2_Missense_Mutation_p.L572Q|BTBD11_ENST00000420571.2_Missense_Mutation_p.L572Q|BTBD11_ENST00000357167.4_Missense_Mutation_p.L109Q|RP11-128P10.1_ENST00000548473.1_RNA	p.L572Q	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN			5	2243	+			572					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	c.1715T>A	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.868190	0.91587	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000550706;ENST00000415943;ENST00000357167	T;T;T;T;T;T	0.66099	0.91;1.01;0.95;0.02;-0.19;0.73	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.74313	0.3700	L	0.48362	1.52	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.999;0.998	T	0.76892	-0.2791	10	0.87932	D	0	.	15.8565	0.78983	0.0:0.0:0.0:1.0	.	572;109;572;572	A6QL63-2;E9PHS4;A6QL63;A6QL63-3	.;.;BTBDB_HUMAN;.	Q	572;572;572;203;206;109	ENSP00000280758:L572Q;ENSP00000413889:L572Q;ENSP00000447319:L572Q;ENSP00000447606:L203Q;ENSP00000407416:L206Q;ENSP00000349690:L109Q	ENSP00000280758:L572Q	L	+	2	0	BTBD11	106528168	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.994000	0.88315	2.147000	0.66899	0.379000	0.24179	CTG		0.562	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		4	167	0	0	0	1	0	4	167				
CCNF	899	broad.mit.edu	37	16	2506782	2506782	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr16:2506782G>A	ENST00000397066.4	+	17	2210	c.2122G>A	c.(2122-2124)Gca>Aca	p.A708T	RP11-715J22.4_ENST00000566085.1_lincRNA	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	708	PEST.				mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				CGTCAGCACCGCAAGTCCCAC	0.662																																						ENST00000397066.4																			0				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20						c.(2122-2124)Gca>Aca		cyclin F							93.0	75.0	81.0					16																	2506782		2198	4300	6498	SO:0001583	missense	899				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding	g.chr16:2506782G>A	Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"""F-boxes /  ""other"""""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.2122G>A	16.37:g.2506782G>A	ENSP00000380256:p.Ala708Thr					RP11-715J22.4_ENST00000566085.1_lincRNA	p.A708T	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN			17	2210	+		Ovarian(90;0.17)	708			PEST.		B2R8H3|Q96EG9	Missense_Mutation	SNP	ENST00000397066.4	37	c.2122G>A	CCDS10467.1	.	.	.	.	.	.	.	.	.	.	G	6.548	0.469309	0.12461	.	.	ENSG00000162063	ENST00000397066;ENST00000293968	T	0.25912	1.77	5.43	-3.09	0.05331	.	0.870083	0.10232	N	0.699573	T	0.19167	0.0460	L	0.46157	1.445	0.09310	N	0.999992	B	0.14438	0.01	B	0.06405	0.002	T	0.18713	-1.0328	10	0.45353	T	0.12	-1.0668	6.9385	0.24481	0.4295:0.0:0.459:0.1115	.	708	P41002	CCNF_HUMAN	T	708;623	ENSP00000380256:A708T	ENSP00000293968:A623T	A	+	1	0	CCNF	2446783	0.000000	0.05858	0.003000	0.11579	0.112000	0.19704	-0.544000	0.06077	-1.270000	0.02433	-1.119000	0.02030	GCA		0.662	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250801.1	NM_001761		5	92	0	0	0	1	0	5	92				
NEURL4	84461	broad.mit.edu	37	17	7232363	7232363	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr17:7232363C>T	ENST00000399464.2	-	1	284	c.269G>A	c.(268-270)cGc>cAc	p.R90H	NEURL4_ENST00000570460.1_Missense_Mutation_p.R90H|NEURL4_ENST00000315614.7_Missense_Mutation_p.R90H	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	90	NHR 1. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCGGTCGATGCGGACGGTGAA	0.667																																						ENST00000399464.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(268-270)cGc>cAc		neuralized E3 ubiquitin protein ligase 4							23.0	27.0	26.0					17																	7232363		2004	4168	6172	SO:0001583	missense	84461							g.chr17:7232363C>T		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.269G>A	17.37:g.7232363C>T	ENSP00000382390:p.Arg90His					NEURL4_ENST00000315614.7_Missense_Mutation_p.R90H|NEURL4_ENST00000570460.1_Missense_Mutation_p.R90H	p.R90H	NM_032442.2	NP_115818.2					1	284	-								Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	c.269G>A	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	C	33	5.216569	0.95104	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.73897	-0.79;-0.79	4.58	4.58	0.56647	Concanavalin A-like lectin/glucanase (1);NEUZ (3);	0.000000	0.85682	D	0.000000	D	0.86740	0.6005	M	0.84511	2.7	0.58432	D	0.99999	D;D	0.71674	0.998;0.998	D;D	0.78314	0.984;0.991	D	0.88530	0.3102	10	0.66056	D	0.02	-16.0376	14.7419	0.69461	0.0:1.0:0.0:0.0	.	90;90	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	H	90	ENSP00000319826:R90H;ENSP00000382390:R90H	ENSP00000319826:R90H	R	-	2	0	NEURL4	7173087	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.472000	0.73567	2.537000	0.85549	0.462000	0.41574	CGC		0.667	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		3	40	0	0	0	1	0	3	40				
MYH8	4626	broad.mit.edu	37	17	10300223	10300223	+	Missense_Mutation	SNP	G	G	A	rs150344258		TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr17:10300223G>A	ENST00000403437.2	-	31	4353	c.4259C>T	c.(4258-4260)aCg>aTg	p.T1420M	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1420					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCGCTGCTTCGTCTTCTCAAG	0.493									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(4258-4260)aCg>aTg		myosin, heavy chain 8, skeletal muscle, perinatal		G	MET/THR	2,4404	4.2+/-10.8	0,2,2201	98.0	91.0	93.0		4259	5.2	1.0	17	dbSNP_134	93	0,8600		0,0,4300	no	missense	MYH8	NM_002472.2	81	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	1420/1938	10300223	2,13004	2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10300223G>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.4259C>T	17.37:g.10300223G>A	ENSP00000384330:p.Thr1420Met					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.T1420M	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			31	4353	-			1420					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.4259C>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.724780	0.68959	4.54E-4	0.0	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.79454	-1.27	5.15	5.15	0.70609	Myosin tail (1);	0.000000	0.42964	U	0.000639	D	0.91043	0.7182	M	0.92268	3.29	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	D	0.92903	0.6341	10	0.87932	D	0	.	18.8185	0.92086	0.0:0.0:1.0:0.0	.	1420	P13535	MYH8_HUMAN	M	1420	ENSP00000384330:T1420M	ENSP00000252173:T1420M	T	-	2	0	MYH8	10240948	1.000000	0.71417	0.956000	0.39512	0.373000	0.29922	9.466000	0.97665	2.673000	0.90976	0.650000	0.86243	ACG		0.493	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		9	67	0	0	0	1	0	9	67				
DFNB31	25861	broad.mit.edu	37	9	117266884	117266884	+	Silent	SNP	G	G	A			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr9:117266884G>A	ENST00000362057.3	-	1	366	c.198C>T	c.(196-198)caC>caT	p.H66H	DFNB31_ENST00000480518.1_5'Flank|DFNB31_ENST00000265134.6_5'Flank|DFNB31_ENST00000374057.3_Silent_p.H66H	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	66					inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGCGGCGCGCGTGGTAAGCGT	0.677																																						ENST00000362057.3																			0				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(196-198)caC>caT		deafness, autosomal recessive 31							44.0	36.0	39.0					9																	117266884		2202	4299	6501	SO:0001819	synonymous_variant	25861				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		g.chr9:117266884G>A	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.198C>T	9.37:g.117266884G>A						DFNB31_ENST00000374057.3_Silent_p.H66H	p.H66H	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN			1	366	-			66					A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Silent	SNP	ENST00000362057.3	37	c.198C>T	CCDS6806.1																																																																																				0.677	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		11	48	0	0	0	1	0	11	48				
GAPVD1	26130	broad.mit.edu	37	9	128109218	128109218	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr9:128109218C>G	ENST00000495955.1	+	20	3457	c.3167C>G	c.(3166-3168)aCa>aGa	p.T1056R	GAPVD1_ENST00000394105.2_Missense_Mutation_p.T1083R|GAPVD1_ENST00000312123.9_Missense_Mutation_p.T1035R|GAPVD1_ENST00000394083.2_Missense_Mutation_p.T1008R|GAPVD1_ENST00000470056.1_Missense_Mutation_p.T1029R|GAPVD1_ENST00000297933.6_Missense_Mutation_p.T1056R|GAPVD1_ENST00000265956.4_Missense_Mutation_p.T1030R|GAPVD1_ENST00000394104.2_Missense_Mutation_p.T1056R			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1056					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TATGAAAGTACAGGTGATAAT	0.388																																						ENST00000470056.1																			0				central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(3085-3087)aCa>aGa		GTPase activating protein and VPS9 domains 1							89.0	78.0	82.0					9																	128109218		2203	4300	6503	SO:0001583	missense	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128109218C>G		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.3167C>G	9.37:g.128109218C>G	ENSP00000419063:p.Thr1056Arg					GAPVD1_ENST00000394105.2_Missense_Mutation_p.T1083R|GAPVD1_ENST00000394083.2_Missense_Mutation_p.T1008R|GAPVD1_ENST00000297933.6_Missense_Mutation_p.T1056R|GAPVD1_ENST00000312123.9_Missense_Mutation_p.T1035R|GAPVD1_ENST00000265956.4_Missense_Mutation_p.T1030R|GAPVD1_ENST00000495955.1_Missense_Mutation_p.T1056R|GAPVD1_ENST00000394104.2_Missense_Mutation_p.T1056R	p.T1029R			Q14C86	GAPD1_HUMAN			17	3246	+			1056					A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	37	c.3086C>G		.	.	.	.	.	.	.	.	.	.	C	13.23	2.176613	0.38413	.	.	ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000297933;ENST00000312123	.	.	.	5.46	5.46	0.80206	.	0.470542	0.24686	N	0.036439	T	0.34716	0.0907	N	0.19112	0.55	0.27220	N	0.95968	B;B;B;B;B;B	0.19817	0.002;0.01;0.0;0.039;0.039;0.023	B;B;B;B;B;B	0.25291	0.002;0.026;0.002;0.059;0.059;0.026	T	0.11251	-1.0595	9	0.18276	T	0.48	.	15.831	0.78752	0.0:0.8643:0.1357:0.0	.	1056;89;1029;1035;1056;1083	Q14C86;B3KTX2;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6	GAPD1_HUMAN;.;.;.;.;.	R	1029;1083;1056;1030;1008;1056;1056;1035	.	ENSP00000265956:T1030R	T	+	2	0	GAPVD1	127149039	0.998000	0.40836	0.982000	0.44146	0.940000	0.58332	3.889000	0.56212	2.724000	0.93272	0.462000	0.41574	ACA		0.388	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			17	23	0	0	0	1	0	17	23				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	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.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(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)		ATAAGCATGACGACCTATGAT	0.393			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		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(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>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		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.chr2:209113112C>T		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.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			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.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			17	31	0	0	0	1	0	17	31				
BPTF	2186	broad.mit.edu	37	17	65941667	65941667	+	Silent	SNP	C	C	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr17:65941667C>T	ENST00000321892.4	+	23	7282	c.7221C>T	c.(7219-7221)ccC>ccT	p.P2407P	BPTF_ENST00000306378.6_Silent_p.P2281P|BPTF_ENST00000424123.3_Silent_p.P2268P|BPTF_ENST00000335221.5_Silent_p.P2407P			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2407					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			agccccagccccaaacccagc	0.557																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(7219-7221)ccC>ccT		bromodomain PHD finger transcription factor							51.0	49.0	50.0					17																	65941667		2203	4300	6503	SO:0001819	synonymous_variant	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65941667C>T	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.7221C>T	17.37:g.65941667C>T						BPTF_ENST00000424123.3_Silent_p.P2268P|BPTF_ENST00000335221.5_Silent_p.P2407P|BPTF_ENST00000306378.6_Silent_p.P2281P	p.P2407P			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		23	7282	+	all_cancers(12;6e-11)		2407					Q6NX67|Q7Z7D6|Q9UIG2	Silent	SNP	ENST00000321892.4	37	c.7221C>T		.	.	.	.	.	.	.	.	.	.	C	2.828	-0.243337	0.05906	.	.	ENSG00000171634	ENST00000424123	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	T	0.65637	0.2710	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66889	-0.5809	5	0.56958	D	0.05	.	10.3719	0.44060	0.0:0.8553:0.0:0.1447	.	.	.	.	L	79	.	ENSP00000388405:P79L	P	+	2	0	BPTF	63372129	0.020000	0.18652	0.988000	0.46212	0.590000	0.36582	0.015000	0.13355	2.722000	0.93159	0.650000	0.86243	CCC		0.557	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		14	18	0	0	0	1	0	14	18				
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	lincRNA	SNP	T	T	G	rs10796418		TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr1:16946407T>G	ENST00000412962.1	-	0	1112				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGCAATCTCCTCACTCAGCTG	0.672																																						ENST00000412962.1																			0																																																			0							g.chr1:16946407T>G	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.16946407T>G														0	1112	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		6	19	0	0	0	1	0	6	19				
PFAS	5198	broad.mit.edu	37	17	8159859	8159859	+	Missense_Mutation	SNP	A	A	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr17:8159859A>T	ENST00000314666.6	+	8	972	c.839A>T	c.(838-840)gAa>gTa	p.E280V	PFAS_ENST00000545834.1_De_novo_Start_OutOfFrame	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	280					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	CAGGGAAAGGAAGTCCGATTC	0.582																																						ENST00000545834.1																			0				central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35								phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						81.0	70.0	73.0					17																	8159859		2203	4300	6503	SO:0001583	missense	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8159859A>T	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.839A>T	17.37:g.8159859A>T	ENSP00000313490:p.Glu280Val					PFAS_ENST00000314666.6_Missense_Mutation_p.E280V				O15067	PUR4_HUMAN			0	898	+								A6H8V8	Translation_Start_Site	SNP	ENST00000314666.6	37		CCDS11136.1	.	.	.	.	.	.	.	.	.	.	A	13.94	2.387404	0.42308	.	.	ENSG00000178921	ENST00000314666	T	0.41065	1.01	5.01	5.01	0.66863	PurM, N-terminal-like (1);AIR synthase-related protein (1);	0.168753	0.51477	D	0.000099	T	0.40145	0.1105	L	0.58510	1.815	0.80722	D	1	B	0.14438	0.01	B	0.23716	0.048	T	0.21793	-1.0235	10	0.24483	T	0.36	-5.4398	12.7264	0.57173	1.0:0.0:0.0:0.0	.	280	O15067	PUR4_HUMAN	V	280	ENSP00000313490:E280V	ENSP00000313490:E280V	E	+	2	0	PFAS	8100584	1.000000	0.71417	0.897000	0.35233	0.815000	0.46073	5.157000	0.64911	2.110000	0.64415	0.460000	0.39030	GAA		0.582	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			5	99	0	0	0	1	0	5	99				
MICAL1	64780	broad.mit.edu	37	6	109765438	109765438	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr6:109765438G>A	ENST00000358807.3	-	25	3471	c.3160C>T	c.(3160-3162)Cgc>Tgc	p.R1054C	MICAL1_ENST00000368952.4_Missense_Mutation_p.R1073C|MICAL1_ENST00000358577.3_Missense_Mutation_p.R968C	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	1054					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CTGAGCCTGCGCTCCTCCTGG	0.617																																						ENST00000368952.4																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(3217-3219)Cgc>Tgc		microtubule associated monooxygenase, calponin and LIM domain containing 1							37.0	39.0	38.0					6																	109765438		2203	4300	6503	SO:0001583	missense	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109765438G>A	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.3160C>T	6.37:g.109765438G>A	ENSP00000351664:p.Arg1054Cys					MICAL1_ENST00000358577.3_Missense_Mutation_p.R968C|MICAL1_ENST00000358807.3_Missense_Mutation_p.R1054C	p.R1073C			Q8TDZ2	MICA1_HUMAN		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)	25	3507	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	1054					B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	c.3217C>T	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.819937	0.32145	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000368957;ENST00000335266	T;T;T	0.44482	0.92;0.92;0.92	5.49	-0.0709	0.13745	Domain of unknown function DUF3585 (1);	0.670270	0.15324	N	0.268386	T	0.13072	0.0317	L	0.36672	1.1	0.21290	N	0.99974	B;B;B	0.11235	0.004;0.003;0.002	B;B;B	0.06405	0.002;0.001;0.001	T	0.30909	-0.9962	10	0.72032	D	0.01	.	7.3579	0.26729	0.5729:0.0:0.4271:0.0	.	1073;968;1054	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	C	1054;1073;968;578;310	ENSP00000351664:R1054C;ENSP00000357948:R1073C;ENSP00000351385:R968C	ENSP00000335372:R310C	R	-	1	0	MICAL1	109872131	0.148000	0.22702	0.214000	0.23707	0.736000	0.42039	0.407000	0.21049	0.042000	0.15717	0.462000	0.41574	CGC		0.617	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		26	38	0	0	0	1	0	26	38				
MYO18A	399687	broad.mit.edu	37	17	27448160	27448160	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr17:27448160C>T	ENST00000527372.1	-	6	1621	c.1441G>A	c.(1441-1443)Gca>Aca	p.A481T	MYO18A_ENST00000533112.1_Missense_Mutation_p.A481T|MYO18A_ENST00000354329.4_Missense_Mutation_p.A481T|MYO18A_ENST00000531253.1_Missense_Mutation_p.A481T	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	481	Myosin motor.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GCCCTGTATGCGGTCTGGGCC	0.587																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	ENST00000527372.1																			0				NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36						c.(1441-1443)Gca>Aca		myosin XVIIIA							43.0	45.0	44.0					17																	27448160		2149	4243	6392	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27448160C>T	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.1441G>A	17.37:g.27448160C>T	ENSP00000437073:p.Ala481Thr					MYO18A_ENST00000354329.4_Missense_Mutation_p.A481T|MYO18A_ENST00000531253.1_Missense_Mutation_p.A481T|MYO18A_ENST00000533112.1_Missense_Mutation_p.A481T	p.A481T	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		6	1621	-			481			Myosin head-like.		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.1441G>A	CCDS45642.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.355373|5.355373	0.95854|0.95854	.|.	.|.	ENSG00000196535|ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000458428;ENST00000531686|ENST00000528564	D;D;D;D|.	0.83914|.	-1.78;-1.78;-1.78;-1.78|.	5.92|5.92	5.92|5.92	0.95590|0.95590	Myosin head, motor domain (2);|.	0.048216|.	0.85682|.	D|.	0.000000|.	D|D	0.82893|0.82893	0.5136|0.5136	M|M	0.83118|0.83118	2.625|2.625	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D;D|.	0.89917|.	0.999;0.999;0.986;0.986;1.0|.	D;P;P;P;D|.	0.69654|.	0.965;0.898;0.636;0.636;0.945|.	T|T	0.82721|0.82721	-0.0317|-0.0317	10|5	0.72032|.	D|.	0.01|.	.|.	19.9311|19.9311	0.97118|0.97118	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	150;93;481;481;481|.	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614|.	.;.;.;.;MY18A_HUMAN|.	T|H	481;481;481;481;481;93;161|186	ENSP00000346291:A481T;ENSP00000435932:A481T;ENSP00000434228:A481T;ENSP00000437073:A481T|.	ENSP00000346291:A481T|.	A|R	-|-	1|2	0|0	MYO18A|MYO18A	24472286|24472286	1.000000|1.000000	0.71417|0.71417	0.481000|0.481000	0.27354|0.27354	0.723000|0.723000	0.41478|0.41478	7.466000|7.466000	0.80914|0.80914	2.813000|2.813000	0.96785|0.96785	0.561000|0.561000	0.74099|0.74099	GCA|CGC		0.587	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		3	15	0	0	0	1	0	3	15				
FAM50B	26240	broad.mit.edu	37	6	3850195	3850195	+	Silent	SNP	G	G	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr6:3850195G>T	ENST00000380274.1	+	1	576	c.150G>T	c.(148-150)tcG>tcT	p.S50S	FAM50B_ENST00000380272.3_Silent_p.S50S			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	50						nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				AGAGGTTCTCGGCGCATTACG	0.642																																						ENST00000380274.1																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17						c.(148-150)tcG>tcT		family with sequence similarity 50, member B							56.0	51.0	53.0					6																	3850195		2203	4300	6503	SO:0001819	synonymous_variant	26240					nucleus		g.chr6:3850195G>T	Y18504	CCDS4487.1	6p25.2	2008-05-15			ENSG00000145945	ENSG00000145945			18789	protein-coding gene	gene with protein product		614686				10534398	Standard	NM_012135		Approved	D6S2654E, X5L	uc003mvu.3	Q9Y247	OTTHUMG00000014147	ENST00000380274.1:c.150G>T	6.37:g.3850195G>T						FAM50B_ENST00000380272.3_Silent_p.S50S	p.S50S			Q9Y247	FA50B_HUMAN			1	576	+	Ovarian(93;0.0925)	all_hematologic(90;0.108)	50					Q5T2L6	Silent	SNP	ENST00000380274.1	37	c.150G>T	CCDS4487.1																																																																																				0.642	FAM50B-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039693.1	NM_012135		3	40	1	0	1	1	1	3	40				
TENM1	10178	broad.mit.edu	37	X	123517993	123517993	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chrX:123517993C>T	ENST00000371130.3	-	29	6830	c.6767G>A	c.(6766-6768)cGt>cAt	p.R2256H	TENM1_ENST00000422452.2_Missense_Mutation_p.R2263H|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2256					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ACTCGCGACACGTCGCCCAAG	0.453																																						ENST00000422452.2																			0											c.(6787-6789)cGt>cAt		teneurin transmembrane protein 1							95.0	91.0	92.0					X																	123517993		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123517993C>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.6767G>A	X.37:g.123517993C>T	ENSP00000360171:p.Arg2256His					TENM1_ENST00000371130.3_Missense_Mutation_p.R2256H|STAG2_ENST00000469481.1_Intron	p.R2263H	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					30	6851	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.6788G>A	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277101	0.80580	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.88509	-2.39;-2.35	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.95667	0.8591	M	0.89904	3.07	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.991;0.987;0.987	D	0.96247	0.9180	10	0.72032	D	0.01	.	18.6846	0.91559	0.0:1.0:0.0:0.0	.	2262;2263;2256	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	H	2256;2263	ENSP00000360171:R2256H;ENSP00000403954:R2263H	ENSP00000360171:R2256H	R	-	2	0	ODZ1	123345674	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	7.818000	0.86416	2.356000	0.79943	0.600000	0.82982	CGT		0.453	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		29	145	0	0	0	1	0	29	145				
ZIC3	7547	broad.mit.edu	37	X	136651129	136651129	+	Nonsense_Mutation	SNP	A	A	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chrX:136651129A>T	ENST00000287538.5	+	2	1679	c.1129A>T	c.(1129-1131)Aag>Tag	p.K377*	ZIC3_ENST00000478471.1_3'UTR|ZIC3_ENST00000370606.3_Nonsense_Mutation_p.K377*	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	377					anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					CGACCGTAAGAAGCACATGCA	0.493																																						ENST00000287538.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37						c.(1129-1131)Aag>Tag		Zic family member 3							211.0	182.0	192.0					X																	136651129		2203	4300	6503	SO:0001587	stop_gained	7547				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:136651129A>T	AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"""Zinc fingers, C2H2-type"""	12874	protein-coding gene	gene with protein product		300265	"""heterotaxy 1"", ""Zic family member 3 (odd-paired homolog, Drosophila)"""	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.1129A>T	X.37:g.136651129A>T	ENSP00000287538:p.Lys377*					ZIC3_ENST00000370606.3_Nonsense_Mutation_p.K377*|ZIC3_ENST00000478471.1_3'UTR	p.K377*	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN			2	1679	+	Acute lymphoblastic leukemia(192;0.000127)		377					B2CNW4|Q14DE5|Q5JY75	Nonsense_Mutation	SNP	ENST00000287538.5	37	c.1129A>T	CCDS14663.1	.	.	.	.	.	.	.	.	.	.	A	44	11.182988	0.99528	.	.	ENSG00000156925	ENST00000287538;ENST00000370606	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0775	0.64900	1.0:0.0:0.0:0.0	.	.	.	.	X	377	.	ENSP00000287538:K377X	K	+	1	0	ZIC3	136478795	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.271000	0.95698	1.922000	0.55676	0.486000	0.48141	AAG		0.493	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1			10	337	0	0	0	1	0	10	337				
COL7A1	1294	broad.mit.edu	37	3	48611977	48611977	+	Missense_Mutation	SNP	G	G	A	rs148638156	byFrequency	TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr3:48611977G>A	ENST00000328333.8	-	78	6507	c.6400C>T	c.(6400-6402)Cca>Tca	p.P2134S	COL7A1_ENST00000454817.1_Missense_Mutation_p.P2102S	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2134	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTGATGCCTGGCACACCCTGA	0.632													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19666	0.0		0.0	False		,,,				2504	0.0					ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(6400-6402)Cca>Tca		collagen, type VII, alpha 1		G	SER/PRO	4,4402	8.1+/-20.4	0,4,2199	59.0	53.0	55.0		6400	2.4	0.1	3	dbSNP_134	55	0,8600		0,0,4300	no	missense	COL7A1	NM_000094.3	74	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign	2134/2945	48611977	4,13002	2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48611977G>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.6400C>T	3.37:g.48611977G>A	ENSP00000332371:p.Pro2134Ser					COL7A1_ENST00000454817.1_Missense_Mutation_p.P2102S	p.P2134S	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	78	6507	-			2134			Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.6400C>T	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	9.769	1.172054	0.21704	9.08E-4	0.0	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.95518	-3.73;-3.73	5.23	2.38	0.29361	.	0.000000	0.40064	N	0.001190	D	0.92286	0.7553	M	0.64260	1.97	0.09310	N	1	B	0.14438	0.01	B	0.17433	0.018	D	0.83425	0.0035	10	0.33940	T	0.23	.	7.203	0.25891	0.1603:0.3686:0.4711:0.0	.	2134	Q02388	CO7A1_HUMAN	S	2134;2102	ENSP00000332371:P2134S;ENSP00000412569:P2102S	ENSP00000332371:P2134S	P	-	1	0	COL7A1	48586981	0.007000	0.16637	0.084000	0.20598	0.182000	0.23217	0.560000	0.23500	0.686000	0.31488	0.563000	0.77884	CCA		0.632	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		4	81	0	0	0	1	0	4	81				
ZBTB20	26137	broad.mit.edu	37	3	114058216	114058216	+	Missense_Mutation	SNP	A	A	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr3:114058216A>T	ENST00000474710.1	-	5	2040	c.1862T>A	c.(1861-1863)cTt>cAt	p.L621H	ZBTB20_ENST00000462705.1_Missense_Mutation_p.L548H|ZBTB20_ENST00000357258.3_Missense_Mutation_p.L548H|ZBTB20_ENST00000481632.1_Missense_Mutation_p.L548H|ZBTB20_ENST00000471418.1_Missense_Mutation_p.L548H|ZBTB20_ENST00000464560.1_Missense_Mutation_p.L548H|ZBTB20_ENST00000393785.2_Missense_Mutation_p.L548H	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	621						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTGCTTGATAAGGTAATCCTT	0.522																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1642-1644)cTt>cAt		zinc finger and BTB domain containing 20							145.0	125.0	132.0					3																	114058216		2203	4300	6503	SO:0001583	missense	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114058216A>T	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1862T>A	3.37:g.114058216A>T	ENSP00000419153:p.Leu621His					ZBTB20_ENST00000357258.3_Missense_Mutation_p.L548H|ZBTB20_ENST00000393785.2_Missense_Mutation_p.L548H|ZBTB20_ENST00000474710.1_Missense_Mutation_p.L621H|ZBTB20_ENST00000464560.1_Missense_Mutation_p.L548H|ZBTB20_ENST00000471418.1_Missense_Mutation_p.L548H|ZBTB20_ENST00000481632.1_Missense_Mutation_p.L548H	p.L548H	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	12	2464	-			621					Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	c.1643T>A	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	A	17.03	3.284611	0.59867	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.16196	2.52;2.52;2.52;2.52;2.36;2.52;2.52	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.57651	0.2068	H	0.96080	3.765	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72033	-0.4412	10	0.87932	D	0	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	621	Q9HC78	ZBT20_HUMAN	H	548;548;548;548;621;548;548	ENSP00000420324:L548H;ENSP00000377375:L548H;ENSP00000418092:L548H;ENSP00000419902:L548H;ENSP00000419153:L621H;ENSP00000349803:L548H;ENSP00000417307:L548H	ENSP00000349803:L548H	L	-	2	0	ZBTB20	115540906	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	CTT		0.522	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		33	72	0	0	0	1	0	33	72				
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T	rs558255572		TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	62								p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333													.|||	1	0.000199681	0.0	0.0014	5008	,	,		30607	0.0		0.0	False		,,,				2504	0.0					ENST00000278882.3																			2	Substitution - Missense(2)	p.D62V(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(184-186)gAt>gTt																																						SO:0001583	missense	0							g.chr20:29625941A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.185A>T	20.37:g.29625941A>T	ENSP00000278882:p.Asp62Val					FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V	p.D62V							5	565	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.185A>T		.	.	.	.	.	.	.	.	.	.	a	11.46	1.644922	0.29246	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.55930	0.49	1.68	1.68	0.24146	.	0.000000	0.85682	U	0.000000	T	0.67316	0.2880	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.68300	-0.5445	9	0.87932	D	0	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	67	F5H5R5	.	V	62;67;62	ENSP00000408863:D67V	ENSP00000278882:D62V	D	+	2	0	FRG1B	28239602	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	7.682000	0.84083	1.028000	0.39785	0.155000	0.16302	GAT		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	102	0	0	0	1	0	4	102				
PRF1	5551	broad.mit.edu	37	10	72357828	72357828	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr10:72357828C>T	ENST00000441259.1	-	3	1809	c.1649G>A	c.(1648-1650)cGg>cAg	p.R550Q	PRF1_ENST00000373209.2_Missense_Mutation_p.R550Q	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	550					apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GGCCCCACTCCGGTTTCCTGG	0.582			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																													ENST00000441259.1			yes	Rec			10	10q22	5551	M	perforin 1 (pore forming protein)		Type 2 familial hemophagocytic lymphohistiocytosis	L		"""various leukaemia, lymphoma"""			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						c.(1648-1650)cGg>cAg		perforin 1 (pore forming protein)							51.0	53.0	52.0					10																	72357828		2203	4300	6503	SO:0001583	missense	5551	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	g.chr10:72357828C>T	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"""Perforin"", ""perforin 1 (preforming protein)"""	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.1649G>A	10.37:g.72357828C>T	ENSP00000398568:p.Arg550Gln					PRF1_ENST00000373209.2_Missense_Mutation_p.R550Q	p.R550Q	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN			3	1809	-			550					B2R6X4|Q59F57|Q86WX7	Missense_Mutation	SNP	ENST00000441259.1	37	c.1649G>A	CCDS7305.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490879	0.84962	.	.	ENSG00000180644	ENST00000373209;ENST00000441259;ENST00000318971	D;D	0.92249	-3.0;-3.0	5.97	5.06	0.68205	.	0.455646	0.23579	N	0.046677	D	0.94029	0.8087	M	0.80028	2.48	0.28793	N	0.899189	D	0.76494	0.999	P	0.51999	0.687	D	0.90736	0.4646	10	0.66056	D	0.02	-38.3939	13.2272	0.59921	0.0:0.8407:0.1593:0.0	.	550	P14222	PERF_HUMAN	Q	550	ENSP00000362305:R550Q;ENSP00000398568:R550Q	ENSP00000316746:R550Q	R	-	2	0	PRF1	72027834	0.996000	0.38824	0.996000	0.52242	0.688000	0.40055	1.814000	0.38972	1.510000	0.48803	-0.176000	0.13171	CGG		0.582	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	NM_005041		26	37	0	0	0	1	0	26	37				
H2BFWT	158983	broad.mit.edu	37	X	103267977	103267977	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chrX:103267977G>A	ENST00000217926.5	-	1	282	c.256C>T	c.(256-258)Cgc>Tgc	p.R86C	H2BFM_ENST00000243297.5_5'Flank	NM_001002916.3	NP_001002916.3	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	86						membrane (GO:0016020)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						AGCACCCGGCGGAAATAGGTG	0.622																																						ENST00000217926.5																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						c.(256-258)Cgc>Tgc		H2B histone family, member W, testis-specific							46.0	43.0	44.0					X																	103267977		2203	4300	6503	SO:0001583	missense	158983				nucleosome assembly	nuclear membrane|nucleosome	DNA binding	g.chrX:103267977G>A	BC038109	CCDS35362.1	Xq22.2	2011-01-27			ENSG00000123569	ENSG00000123569		"""Histones / Replication-independent"""	27252	protein-coding gene	gene with protein product		300507				12477932	Standard	NM_001002916		Approved		uc004elr.3	Q7Z2G1	OTTHUMG00000022120	ENST00000217926.5:c.256C>T	X.37:g.103267977G>A	ENSP00000354723:p.Arg86Cys						p.R86C	NM_001002916.3	NP_001002916.2	Q7Z2G1	H2BWT_HUMAN			1	282	-			86					B1AK72|Q147W3	Missense_Mutation	SNP	ENST00000217926.5	37	c.256C>T	CCDS35362.1	.	.	.	.	.	.	.	.	.	.	.	15.17	2.752720	0.49362	.	.	ENSG00000123569	ENST00000217926	T	0.21734	1.99	2.84	-1.96	0.07525	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.14485	0.0350	N	0.14661	0.345	0.09310	N	0.999998	D	0.64830	0.994	P	0.48227	0.571	T	0.23868	-1.0176	9	0.48119	T	0.1	.	8.8879	0.35414	0.7854:0.0:0.2146:0.0	.	86	Q7Z2G1	H2BWT_HUMAN	C	86	ENSP00000354723:R86C	ENSP00000354723:R86C	R	-	1	0	H2BFWT	103154633	1.000000	0.71417	0.000000	0.03702	0.113000	0.19764	3.352000	0.52239	-0.647000	0.05444	0.600000	0.82982	CGC		0.622	H2BFWT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057756.2	NM_001002916		16	76	0	0	0	1	0	16	76				
C17orf70	80233	broad.mit.edu	37	17	79514217	79514217	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr17:79514217C>T	ENST00000327787.8	-	5	1937	c.1891G>A	c.(1891-1893)Gtc>Atc	p.V631I	C17orf70_ENST00000537152.1_Missense_Mutation_p.V480I|C17orf70_ENST00000425898.2_Missense_Mutation_p.V280I			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	631					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TCGGGCAGGACGTCGGAGGGG	0.657																																						ENST00000537152.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19						c.(1438-1440)Gtc>Atc		chromosome 17 open reading frame 70							46.0	53.0	51.0					17																	79514217		2203	4299	6502	SO:0001583	missense	80233				DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding	g.chr17:79514217C>T	BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 100kDa"""	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.1891G>A	17.37:g.79514217C>T	ENSP00000333283:p.Val631Ile					C17orf70_ENST00000425898.2_Missense_Mutation_p.V280I|C17orf70_ENST00000327787.8_Missense_Mutation_p.V631I	p.V480I	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)		5	1963	-	all_neural(118;0.0878)|Melanoma(429;0.242)		631					A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Missense_Mutation	SNP	ENST00000327787.8	37	c.1438G>A	CCDS32765.2	.	.	.	.	.	.	.	.	.	.	C	5.441	0.266525	0.10294	.	.	ENSG00000185504	ENST00000327787;ENST00000425898;ENST00000537152	T;T;T	0.32272	1.46;1.46;1.46	4.91	-6.75	0.01738	.	1.571240	0.04512	N	0.383020	T	0.13841	0.0335	N	0.22421	0.69	0.09310	N	1	B;B	0.16396	0.017;0.017	B;B	0.10450	0.003;0.005	T	0.21211	-1.0252	10	0.10636	T	0.68	.	2.7119	0.05177	0.1627:0.1114:0.4017:0.3242	.	631;280	Q0VG06;E7EVV8	FP100_HUMAN;.	I	631;280;480	ENSP00000333283:V631I;ENSP00000399674:V280I;ENSP00000440151:V480I	ENSP00000333283:V631I	V	-	1	0	C17orf70	77124670	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.082000	0.11304	-0.730000	0.04869	-0.314000	0.08810	GTC		0.657	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396170.1	NM_025161		36	68	0	0	0	1	0	36	68				
OBSCN	84033	broad.mit.edu	37	1	228437883	228437883	+	Silent	SNP	C	C	T	rs371848043|rs35326243		TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr1:228437883C>T	ENST00000422127.1	+	14	4295	c.4251C>T	c.(4249-4251)acC>acT	p.T1417T	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000570156.2_Silent_p.T1509T|OBSCN_ENST00000284548.11_Silent_p.T1417T	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1417	Ig-like 14.			T -> A (in Ref. 1; CAC85746). {ECO:0000305}.	apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGCGGACACCGGGGAGTATA	0.642																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(4525-4527)acC>acT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF		C	,	1,4111		0,1,2055	67.0	77.0	74.0		4251,4251	-7.0	0.0	1		74	0,8382		0,0,4191	no	coding-synonymous,coding-synonymous	OBSCN	NM_001098623.1,NM_052843.2	,	0,1,6246	TT,TC,CC		0.0,0.0243,0.0080	,	1417/7969,1417/6621	228437883	1,12493	2056	4191	6247	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228437883C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.4251C>T	1.37:g.228437883C>T						OBSCN_ENST00000284548.11_Silent_p.T1417T|OBSCN_ENST00000422127.1_Silent_p.T1417T|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	p.T1509T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			15	4601	+		Prostate(94;0.0405)	487			Ig-like 15.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.4527C>T	CCDS58065.1																																																																																				0.642	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		4	192	0	0	0	1	0	4	192				
STAT5A	6776	broad.mit.edu	37	17	40441527	40441527	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr17:40441527A>G	ENST00000345506.4	+	3	740	c.98A>G	c.(97-99)tAc>tGc	p.Y33C	STAT5A_ENST00000588868.1_Missense_Mutation_p.Y33C|STAT5A_ENST00000590949.1_Missense_Mutation_p.Y33C|STAT5A_ENST00000546010.2_Missense_Mutation_p.Y33C|STAT5A_ENST00000452307.2_Missense_Mutation_p.Y33C	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	33					2-oxoglutarate metabolic process (GO:0006103)|allantoin metabolic process (GO:0000255)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|luteinization (GO:0001553)|mammary gland epithelium development (GO:0061180)|natural killer cell differentiation (GO:0001779)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of mast cell apoptotic process (GO:0033026)|oxaloacetate metabolic process (GO:0006107)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mast cell differentiation (GO:0060376)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin signaling pathway (GO:0038161)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription, DNA-templated (GO:0006351)|valine metabolic process (GO:0006573)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	calcium ion binding (GO:0005509)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.Y33F(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		GTCCGGCACTACTTGGCCCAG	0.652																																						ENST00000345506.4																			1	Substitution - Missense(1)	p.Y33F(1)	lung(1)	central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(97-99)tAc>tGc		signal transducer and activator of transcription 5A							62.0	51.0	55.0					17																	40441527		2203	4300	6503	SO:0001583	missense	6776				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr17:40441527A>G	U43185	CCDS11424.1, CCDS74066.1, CCDS74067.1	17q11.2	2013-02-14			ENSG00000126561	ENSG00000126561		"""SH2 domain containing"""	11366	protein-coding gene	gene with protein product		601511		STAT5		7719937, 8631883	Standard	NM_003152		Approved	MGF	uc002hzj.2	P42229	OTTHUMG00000150725	ENST00000345506.4:c.98A>G	17.37:g.40441527A>G	ENSP00000341208:p.Tyr33Cys					STAT5A_ENST00000590949.1_Missense_Mutation_p.Y33C|STAT5A_ENST00000452307.2_Missense_Mutation_p.Y33C|STAT5A_ENST00000546010.2_Missense_Mutation_p.Y33C|STAT5A_ENST00000588868.1_Missense_Mutation_p.Y33C	p.Y33C	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.128)	3	740	+		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)	33					Q1KLZ6	Missense_Mutation	SNP	ENST00000345506.4	37	c.98A>G	CCDS11424.1	.	.	.	.	.	.	.	.	.	.	A	16.32	3.090077	0.55968	.	.	ENSG00000126561	ENST00000345506;ENST00000546010;ENST00000540577;ENST00000452307;ENST00000444283	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.43	3.13	0.36017	STAT transcription factor, protein interaction (4);	0.061020	0.64402	D	0.000002	T	0.66973	0.2844	M	0.72576	2.205	0.58432	D	0.999997	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.996;0.992;0.994	T	0.63646	-0.6590	10	0.48119	T	0.1	-0.0071	8.6493	0.34025	0.7369:0.1347:0.0:0.1284	.	33;35;33	Q1KLZ6;Q59GY7;P42229	.;.;STA5A_HUMAN	C	33;33;35;33;33	ENSP00000341208:Y33C;ENSP00000443107:Y33C;ENSP00000400320:Y33C;ENSP00000407327:Y33C	ENSP00000341208:Y33C	Y	+	2	0	STAT5A	37695053	1.000000	0.71417	0.958000	0.39756	0.146000	0.21551	7.371000	0.79600	0.324000	0.23333	-0.333000	0.08304	TAC		0.652	STAT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319804.1	NM_003152		11	87	0	0	0	1	0	11	87				
ANKRD17	26057	broad.mit.edu	37	4	73944453	73944453	+	Silent	SNP	A	A	C			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr4:73944453A>C	ENST00000358602.4	-	31	7430	c.7314T>G	c.(7312-7314)acT>acG	p.T2438T	ANKRD17_ENST00000509867.2_Silent_p.T2325T|ANKRD17_ENST00000330838.6_Silent_p.T2187T	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2438					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTGACGTTCCAGTTTGCCTGA	0.483																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(7312-7314)acT>acG		ankyrin repeat domain 17							128.0	108.0	115.0					4																	73944453		2203	4300	6503	SO:0001819	synonymous_variant	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73944453A>C	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.7314T>G	4.37:g.73944453A>C						ANKRD17_ENST00000330838.6_Silent_p.T2187T|ANKRD17_ENST00000509867.2_Silent_p.T2325T	p.T2438T	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		31	7430	-	Breast(15;0.000295)		2438					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Silent	SNP	ENST00000358602.4	37	c.7314T>G	CCDS34004.1																																																																																				0.483	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		15	46	0	0	0	1	0	15	46				
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	lincRNA	SNP	G	G	A	rs28392876	byFrequency	TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr1:16946438G>A	ENST00000412962.1	-	0	1081				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GCCTTCCGCCGGGCCAGCAGC	0.672																																						ENST00000412962.1																			0																																																			0							g.chr1:16946438G>A	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.16946438G>A														0	1081	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		4	14	0	0	0	1	0	4	14				
LDLRAD4	753	broad.mit.edu	37	18	13645616	13645616	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr18:13645616C>T	ENST00000359446.5	+	6	1349	c.881C>T	c.(880-882)cCc>cTc	p.P294L	LDLRAD4_ENST00000399848.3_Missense_Mutation_p.P276L|LDLRAD4_ENST00000361205.4_Missense_Mutation_p.P294L|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.P239L|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.P257L|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.P217L|LDLRAD4_ENST00000592991.1_Missense_Mutation_p.P196L	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	294					negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)										ACAATAGTACCCATCAAAGGC	0.557																																						ENST00000361205.4																			0											c.(880-882)cCc>cTc		low density lipoprotein receptor class A domain containing 4							42.0	46.0	45.0					18																	13645616		2203	4300	6503	SO:0001583	missense	753							g.chr18:13645616C>T	AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"""clone 22"""	606571	"""chromosome 18 open reading frame 1"""	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.881C>T	18.37:g.13645616C>T	ENSP00000352420:p.Pro294Leu					LDLRAD4_ENST00000399848.3_Missense_Mutation_p.P276L|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.P257L|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.P239L|LDLRAD4_ENST00000592991.1_Missense_Mutation_p.P196L|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.P217L|LDLRAD4_ENST00000359446.5_Missense_Mutation_p.P294L	p.P294L	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1					7	1549	+								B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Missense_Mutation	SNP	ENST00000359446.5	37	c.881C>T	CCDS32793.1	.	.	.	.	.	.	.	.	.	.	C	8.905	0.957331	0.18507	.	.	ENSG00000168675	ENST00000361205;ENST00000399848;ENST00000359446;ENST00000399847;ENST00000361303;ENST00000435606	T;T	0.26223	1.79;1.75	4.4	4.4	0.53042	.	0.056490	0.64402	D	0.000001	T	0.39963	0.1098	M	0.72479	2.2	0.80722	D	1	P;D;P;D;D;D	0.57571	0.908;0.98;0.946;0.98;0.957;0.966	B;P;P;P;P;P	0.57152	0.436;0.814;0.67;0.814;0.756;0.656	T	0.41627	-0.9498	10	0.02654	T	1	0.0089	16.9745	0.86309	0.0:1.0:0.0:0.0	.	218;236;239;257;276;294	O15165-4;O15165-3;E9PAY9;B3KNT9;O15165-2;O15165	.;.;.;.;.;CR001_HUMAN	L	294;276;257;239;236;218	ENSP00000354753:P294L;ENSP00000382741:P276L	ENSP00000352420:P257L	P	+	2	0	C18orf1	13635616	1.000000	0.71417	0.725000	0.30721	0.879000	0.50718	4.076000	0.57591	2.008000	0.58898	0.655000	0.94253	CCC		0.557	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458326.1	NM_181481		3	41	0	0	0	1	0	3	41				
USP4	7375	broad.mit.edu	37	3	49323550	49323550	+	Silent	SNP	T	T	A			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr3:49323550T>A	ENST00000265560.4	-	16	2227	c.2181A>T	c.(2179-2181)ggA>ggT	p.G727G	USP4_ENST00000351842.4_Silent_p.G680G	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	727	USP.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TAAGTAGTTTTCCATCAGCTG	0.413																																						ENST00000351842.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(2038-2040)ggA>ggT		ubiquitin specific peptidase 4 (proto-oncogene)							134.0	124.0	127.0					3																	49323550		2203	4300	6503	SO:0001819	synonymous_variant	7375				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:49323550T>A	U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.2181A>T	3.37:g.49323550T>A						USP4_ENST00000265560.4_Silent_p.G727G	p.G680G	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)	15	2048	-		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)	727					A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Silent	SNP	ENST00000265560.4	37	c.2040A>T	CCDS2793.1	.	.	.	.	.	.	.	.	.	.	T	9.044	0.990314	0.18966	.	.	ENSG00000114316	ENST00000431357	.	.	.	5.57	-8.6	0.00889	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.8928	12.8608	0.57911	0.0:0.5403:0.091:0.3687	.	.	.	.	X	466	.	.	K	-	1	0	USP4	49298554	0.473000	0.25878	0.479000	0.27329	0.963000	0.63663	-0.561000	0.05957	-1.637000	0.01531	0.260000	0.18958	AAA		0.413	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443		31	43	0	0	0	1	0	31	43				
UPF3B	65109	broad.mit.edu	37	X	118979241	118979241	+	Missense_Mutation	SNP	A	A	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chrX:118979241A>T	ENST00000276201.2	-	4	458	c.389T>A	c.(388-390)aTa>aAa	p.I130K	UPF3B_ENST00000478840.1_5'Flank|UPF3B_ENST00000345865.2_Missense_Mutation_p.I130K	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	130	Necessary for interaction with UPF2.|Sufficient for association with EJC core.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						AAATTCTACTATAGCGGGATA	0.348																																						ENST00000276201.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						c.(388-390)aTa>aAa		UPF3 regulator of nonsense transcripts homolog B (yeast)							102.0	93.0	96.0					X																	118979241		2202	4300	6502	SO:0001583	missense	0				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:118979241A>T	AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"""mental retardation, X-linked 62"""	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.389T>A	X.37:g.118979241A>T	ENSP00000276201:p.Ile130Lys					UPF3B_ENST00000345865.2_Missense_Mutation_p.I130K	p.I130K	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN			4	458	-			130			Necessary for interaction with UPF2.|Sufficient for association with EJC core.		D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Missense_Mutation	SNP	ENST00000276201.2	37	c.389T>A	CCDS14588.1	.	.	.	.	.	.	.	.	.	.	A	17.12	3.307680	0.60305	.	.	ENSG00000125351	ENST00000276201;ENST00000345865;ENST00000439808	T;T	0.65732	-0.17;-0.17	4.99	4.99	0.66335	Regulator of nonsense-mediated decay, UPF3 (1);Nucleotide-binding, alpha-beta plait (1);	0.095927	0.64402	D	0.000001	T	0.80210	0.4581	M	0.86502	2.82	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.69142	0.962;0.958	D	0.83892	0.0285	10	0.87932	D	0	.	12.9022	0.58130	1.0:0.0:0.0:0.0	.	130;130	Q9BZI7-2;Q9BZI7	.;REN3B_HUMAN	K	130	ENSP00000276201:I130K;ENSP00000245418:I130K	ENSP00000276201:I130K	I	-	2	0	UPF3B	118863269	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.870000	0.92336	1.637000	0.50538	0.412000	0.27726	ATA		0.348	UPF3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058068.1			13	57	0	0	0	1	0	13	57				
ZBED2	79413	broad.mit.edu	37	3	111312789	111312789	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr3:111312789C>T	ENST00000317012.4	-	2	1268	c.260G>A	c.(259-261)cGt>cAt	p.R87H	CD96_ENST00000438817.2_Intron|CD96_ENST00000352690.4_Intron|CD96_ENST00000283285.5_Intron	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN	zinc finger, BED-type containing 2	87							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(1)|skin(2)	6						CCCAGGGCCACGGCTCACCTG	0.602																																						ENST00000317012.4																			0				large_intestine(3)|lung(1)|skin(2)	6						c.(259-261)cGt>cAt		zinc finger, BED-type containing 2							65.0	66.0	66.0					3																	111312789		2203	4300	6503	SO:0001583	missense	79413						DNA binding|metal ion binding	g.chr3:111312789C>T	BC003536	CCDS2960.2	3p13-q13.2	2013-05-03			ENSG00000177494	ENSG00000177494		"""Zinc fingers, BED-type"""	20710	protein-coding gene	gene with protein product		615246				23533661	Standard	NM_024508		Approved	MGC10796	uc003dxy.3	Q9BTP6	OTTHUMG00000074061	ENST00000317012.4:c.260G>A	3.37:g.111312789C>T	ENSP00000321370:p.Arg87His					CD96_ENST00000352690.4_Intron|CD96_ENST00000283285.5_Intron|CD96_ENST00000438817.2_Intron	p.R87H	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN			2	1268	-			87					D3DN62	Missense_Mutation	SNP	ENST00000317012.4	37	c.260G>A	CCDS2960.2	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187710	0.57909	.	.	ENSG00000177494	ENST00000317012	.	.	.	4.42	2.08	0.27032	Zinc finger, BED-type predicted (3);	0.175457	0.27284	U	0.020064	T	0.24812	0.0602	N	0.24115	0.695	0.09310	N	1	B	0.17465	0.022	B	0.08055	0.003	T	0.16512	-1.0400	9	0.59425	D	0.04	-0.9271	5.9054	0.18998	0.0:0.6805:0.0:0.3195	.	87	Q9BTP6	ZBED2_HUMAN	H	87	.	ENSP00000321370:R87H	R	-	2	0	ZBED2	112795479	0.916000	0.31088	0.020000	0.16555	0.925000	0.55904	0.404000	0.20999	0.742000	0.32697	0.467000	0.42956	CGT		0.602	ZBED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157228.2	NM_024508		35	66	0	0	0	1	0	35	66				
BCL11B	64919	broad.mit.edu	37	14	99641314	99641314	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr14:99641314C>T	ENST00000357195.3	-	4	1868	c.1859G>A	c.(1858-1860)cGc>cAc	p.R620H	BCL11B_ENST00000345514.2_Missense_Mutation_p.R549H|BCL11B_ENST00000443726.2_Missense_Mutation_p.R426H	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	620	Gly-rich.				alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|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 positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GAAGGCGCCGCGCTTCTGCTT	0.751			T	TLX3	T-ALL																																	ENST00000345514.2				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(1645-1647)cGc>cAc		B-cell CLL/lymphoma 11B (zinc finger protein)							11.0	10.0	11.0					14																	99641314		2026	3903	5929	SO:0001583	missense	64919					nucleus	zinc ion binding	g.chr14:99641314C>T	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.1859G>A	14.37:g.99641314C>T	ENSP00000349723:p.Arg620His					BCL11B_ENST00000443726.2_Missense_Mutation_p.R426H|BCL11B_ENST00000357195.3_Missense_Mutation_p.R620H	p.R549H	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	1912	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	620			Glu-rich.		Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	c.1646G>A	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001532	0.74818	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	T;T;T	0.14144	2.53;2.59;2.56	3.6	3.6	0.41247	.	5.873130	0.00520	U	0.000180	T	0.24774	0.0601	L	0.29908	0.895	0.46654	D	0.999147	D;D	0.71674	0.974;0.998	B;P	0.53102	0.4;0.718	T	0.08472	-1.0720	10	0.48119	T	0.1	-3.0567	15.5731	0.76354	0.0:1.0:0.0:0.0	.	549;620	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	H	620;549;426	ENSP00000349723:R620H;ENSP00000280435:R549H;ENSP00000387419:R426H	ENSP00000280435:R549H	R	-	2	0	BCL11B	98711067	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	4.921000	0.63397	1.709000	0.51313	0.561000	0.74099	CGC		0.751	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		5	11	0	0	0	1	0	5	11				
SLCO4C1	353189	broad.mit.edu	37	5	101593012	101593012	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr5:101593012delC	ENST00000310954.6	-	8	1562	c.1276delG	c.(1276-1278)gctfs	p.A426fs		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		ATTAAAACAGCCCCTAATAAG	0.348																																						ENST00000310954.6																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.(1276-1278)ctfs		solute carrier organic anion transporter family, member 4C1							45.0	46.0	46.0					5																	101593012		2203	4300	6503	SO:0001589	frameshift_variant	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101593012delC	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1276delG	5.37:g.101593012delC	ENSP00000309741:p.Ala426fs						p.A426fs	NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	8	1562	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	426						Frame_Shift_Del	DEL	ENST00000310954.6	37	c.1276delG	CCDS34205.1																																																																																				0.348	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		7	27						7	27	---	---	---	---
FRY	10129	broad.mit.edu	37	13	32805370	32805371	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr13:32805370_32805371delAA	ENST00000380250.3	+	41	5956_5957	c.5460_5461delAA	c.(5458-5463)tcaaagfs	p.K1821fs		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1821						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ATCAAAATTCAAAGAGTGCTGA	0.351																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(5458-5463)tcagfs		furry homolog (Drosophila)																																				SO:0001589	frameshift_variant	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32805370_32805371delAA	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.5460_5461delAA	13.37:g.32805370_32805371delAA	ENSP00000369600:p.Lys1821fs						p.SK1820fs	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	41	5956_5957	+		Lung SC(185;0.0271)	1820					Q9Y3N6	Frame_Shift_Del	DEL	ENST00000380250.3	37	c.5460_5461delAA	CCDS41875.1																																																																																				0.351	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		10	50						10	50	---	---	---	---
GRIN3B	116444	broad.mit.edu	37	19	1009186	1009188	+	In_Frame_Del	DEL	AGC	AGC	-	rs142853420	byFrequency	TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr19:1009186_1009188delAGC	ENST00000234389.3	+	9	2736_2738	c.2717_2719delAGC	c.(2716-2721)gagcag>gag	p.Q912del		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	912					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCCGAGGTGGagcagcagcagca	0.744														602	0.120208	0.0983	0.0677	5008	,	,		9784	0.1657		0.0815	False		,,,				2504	0.18					ENST00000234389.3																			0				breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(2716-2721)gag>g		glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)																																			SO:0001651	inframe_deletion	116444				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	g.chr19:1009186_1009188delAGC		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.2717_2719delAGC	19.37:g.1009195_1009197delAGC	ENSP00000234389:p.Gln912del						p.EQ906del	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	2736_2738	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)	906					Q5EAK7|Q7RTW9	In_Frame_Del	DEL	ENST00000234389.3	37	c.2717_2719delAGC	CCDS32861.1																																																																																				0.744	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			4	3						4	3	---	---	---	---
NIFKP6	100132796	broad.mit.edu	37	19	51900028	51900029	+	lincRNA	INS	-	-	T			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr19:51900028_51900029insT	ENST00000600765.1	+	0	108																											GCTTTTGCTTCTTTTTTTCCGT	0.307																																						ENST00000600765.1																			0																																																			0							g.chr19:51900028_51900029insT																													19.37:g.51900035_51900035dupT														0	108	+									RNA	INS	ENST00000600765.1	37																																																																																						0.307	CTD-2616J11.14-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000465204.1			8	1						8	1	---	---	---	---
CUL4B	8450	broad.mit.edu	37	X	119677596	119677599	+	Frame_Shift_Del	DEL	TAAG	TAAG	-			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chrX:119677596_119677599delTAAG	ENST00000404115.3	-	10	1694_1697	c.1293_1296delCTTA	c.(1291-1296)tacttafs	p.YL431fs	CUL4B_ENST00000336592.6_Frame_Shift_Del_p.YL418fs|CUL4B_ENST00000371322.5_Frame_Shift_Del_p.YL413fs|snoU13_ENST00000605987.1_RNA	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	431					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGTCTGATCTAAGTAAGTAATAA	0.343																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1237-1242)tafs		cullin 4B																																				SO:0001589	frameshift_variant	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119677596_119677599delTAAG	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.1293_1296delCTTA	X.37:g.119677600_119677603delTAAG	ENSP00000384109:p.Tyr431fs					CUL4B_ENST00000404115.3_Frame_Shift_Del_p.YL431fs|CUL4B_ENST00000336592.6_Frame_Shift_Del_p.YL418fs	p.YL413fs	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			8	1300_1303	-			431					B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Frame_Shift_Del	DEL	ENST00000404115.3	37	c.1239_1242delCTTA	CCDS35379.1																																																																																				0.343	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		15	62						15	62	---	---	---	---
