#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
VCP	7415	broad.mit.edu	37	9	35065309	35065309	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr9:35065309G>A	ENST00000358901.6	-	5	1410	c.515C>T	c.(514-516)cCt>cTt	p.P172L		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	172					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AATGCAATAAGGGCTAGGATC	0.478																																						uc003zvy.2																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(514-516)cCt>cTt		Homo sapiens valosin containing protein (VCP), mRNA.							132.0	114.0	120.0					9																	35065309		2203	4300	6503	SO:0001583	missense	7415				ER-associated protein catabolic process|activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	g.chr9:35065309G>A	AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"""ATPases / AAA-type"""	12666	protein-coding gene	gene with protein product		601023	"""valosin-containing protein"""			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.515C>T	9.37:g.35065309G>A	ENSP00000351777:p.Pro172Leu					VCP_uc010mkh.1_5'UTR|VCP_uc010mki.1_Missense_Mutation_p.P127L	p.P172L	NM_007126	NP_009057	P55072	TERA_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		4	904	-			172					B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP	ENST00000358901.6	37	c.515C>T	CCDS6573.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.981605	0.93044	.	.	ENSG00000165280	ENST00000358901;ENST00000448530	D;D	0.95103	-3.61;-3.61	6.07	6.07	0.98685	Cell division protein 48, Cdc48, domain 2 (1);	0.000000	0.85682	D	0.000000	D	0.96818	0.8961	M	0.91300	3.195	0.80722	D	1	P	0.51057	0.941	P	0.49477	0.612	D	0.95827	0.8855	10	0.36615	T	0.2	-26.4579	20.6593	0.99626	0.0:0.0:1.0:0.0	.	172	P55072	TERA_HUMAN	L	172;127	ENSP00000351777:P172L;ENSP00000392088:P127L	ENSP00000351777:P172L	P	-	2	0	VCP	35055309	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.682000	0.98655	2.885000	0.99019	0.655000	0.94253	CCT		0.478	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126		18	40	0	0	0	1	0	18	40				
SETX	23064	broad.mit.edu	37	9	135140069	135140069	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr9:135140069G>C	ENST00000224140.5	-	26	7773	c.7591C>G	c.(7591-7593)Cct>Gct	p.P2531A	SETX_ENST00000477049.1_5'UTR|SETX_ENST00000372169.2_Missense_Mutation_p.P2560A|SETX_ENST00000393220.1_Missense_Mutation_p.P2498A	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2531					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TCATGAACAGGAGGTCTTTCA	0.488																																						uc004cbk.3																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(7591-7593)Cct>Gct		Homo sapiens senataxin (SETX), mRNA.							112.0	112.0	112.0					9																	135140069		2203	4300	6503	SO:0001583	missense	23064				RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135140069G>C	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.7591C>G	9.37:g.135140069G>C	ENSP00000224140:p.Pro2531Ala					SETX_uc004cbj.3_Missense_Mutation_p.P2179A|SETX_uc010mzt.3_Missense_Mutation_p.P2117A	p.P2531A	NM_015046	NP_055861	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	25	7774	-		Myeloproliferative disorder(178;0.204)	2531					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.7591C>G	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	G	4.764	0.142067	0.09083	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.90133	-2.0;-2.62;-2.11;-1.79	4.94	0.674	0.17946	.	0.689788	0.12931	N	0.427382	T	0.81941	0.4929	L	0.51422	1.61	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.63198	-0.6691	10	0.02654	T	1	.	4.1156	0.10079	0.1514:0.1253:0.5945:0.1288	.	2498;2531;2560	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	A	2531;802;2560;2498	ENSP00000224140:P2531A;ENSP00000409143:P802A;ENSP00000361242:P2560A;ENSP00000376913:P2498A	ENSP00000224140:P2531A	P	-	1	0	SETX	134129890	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	0.028000	0.13644	0.212000	0.20703	0.561000	0.74099	CCT		0.488	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		3	109	0	0	0	1	0	3	109				
NDST4	64579	broad.mit.edu	37	4	115898369	115898369	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr4:115898369C>T	ENST00000264363.2	-	3	1718	c.1040G>A	c.(1039-1041)gGa>gAa	p.G347E		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	347	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CCCTGAAAATCCAAGGTTGAA	0.323																																						uc003ibu.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(1039-1041)gGa>gAa		Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.							86.0	91.0	89.0					4																	115898369		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115898369C>T	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1040G>A	4.37:g.115898369C>T	ENSP00000264363:p.Gly347Glu					NDST4_uc010imw.3_Intron	p.G347E	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	2	1719	-		Ovarian(17;0.156)	347			Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.1040G>A	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	C	31	5.081190	0.94050	.	.	ENSG00000138653	ENST00000264363	T	0.72282	-0.64	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.88779	0.6529	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90435	0.4427	10	0.87932	D	0	.	20.2576	0.98430	0.0:1.0:0.0:0.0	.	347	Q9H3R1	NDST4_HUMAN	E	347	ENSP00000264363:G347E	ENSP00000264363:G347E	G	-	2	0	NDST4	116117818	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.792000	0.85828	2.783000	0.95769	0.655000	0.94253	GGA		0.323	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		4	100	0	0	0	1	0	4	100				
MYBPC3	4607	broad.mit.edu	37	11	47369997	47369997	+	Silent	SNP	G	G	A			TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr11:47369997G>A	ENST00000545968.1	-	6	804	c.750C>T	c.(748-750)tcC>tcT	p.S250S	MYBPC3_ENST00000256993.4_Silent_p.S250S|MYBPC3_ENST00000399249.2_Silent_p.S250S	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	250	Ig-like C2-type 1.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GATTGAAGTTGGAGCAGTCAA	0.577																																						uc021qis.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42						c.(748-750)tcC>tcT		Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.							70.0	84.0	79.0					11																	47369997		2052	4180	6232	SO:0001819	synonymous_variant	4607				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	g.chr11:47369997G>A	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.750C>T	11.37:g.47369997G>A						MYBPC3_uc021qir.1_5'UTR	p.S250S	NM_000256	NP_000247	Q14896	MYPC3_HUMAN		Lung(87;0.176)	5	805	-			250			Ig-like C2-type 1.		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Silent	SNP	ENST00000545968.1	37	c.750C>T	CCDS53621.1																																																																																				0.577	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			7	18	0	0	0	1	0	7	18				
GRM1	2911	broad.mit.edu	37	6	146480652	146480652	+	Missense_Mutation	SNP	T	T	G			TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr6:146480652T>G	ENST00000282753.1	+	2	1104	c.869T>G	c.(868-870)tTc>tGc	p.F290C	GRM1_ENST00000361719.2_Missense_Mutation_p.F290C|GRM1_ENST00000492807.2_Missense_Mutation_p.F290C|GRM1_ENST00000355289.4_Missense_Mutation_p.F290C|GRM1_ENST00000507907.1_Missense_Mutation_p.F290C|GRM1_ENST00000392299.2_Missense_Mutation_p.F290C			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	290					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GTGGTCTGCTTCTGTGAAGGC	0.552																																						uc010khw.1																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(868-870)tTc>tGc		Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						90.0	82.0	85.0					6																	146480652		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146480652T>G	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.869T>G	6.37:g.146480652T>G	ENSP00000282753:p.Phe290Cys					GRM1_uc010khu.1_Missense_Mutation_p.F290C|GRM1_uc010khv.1_Missense_Mutation_p.F290C|GRM1_uc003qll.2_Missense_Mutation_p.F290C|GRM1_uc011edz.1_Missense_Mutation_p.F290C|GRM1_uc011eea.1_Missense_Mutation_p.F290C	p.F290C	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	2	1339	+		Ovarian(120;0.0387)	290					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.869T>G	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.725450	0.89298	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	5.32	5.32	0.75619	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.92296	0.7556	M	0.93328	3.405	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;0.998	D	0.94331	0.7562	10	0.87932	D	0	.	15.2804	0.73778	0.0:0.0:0.0:1.0	.	290;290;285;290	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	C	290	ENSP00000354896:F290C;ENSP00000376119:F290C;ENSP00000424095:F290C;ENSP00000282753:F290C;ENSP00000347437:F290C;ENSP00000425599:F290C	ENSP00000282753:F290C	F	+	2	0	GRM1	146522345	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.650000	0.83521	2.019000	0.59389	0.533000	0.62120	TTC		0.552	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		3	86	0	0	0	1	0	3	86				
ACOT12	134526	broad.mit.edu	37	5	80626733	80626733	+	Missense_Mutation	SNP	G	G	A	rs80124231	byFrequency	TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr5:80626733G>A	ENST00000307624.3	-	14	1446	c.1418C>T	c.(1417-1419)tCg>tTg	p.S473L	ACOT12_ENST00000508234.1_5'UTR	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	473	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		CAAAATGACCGACTTCACTGC	0.398													G|||	5	0.000998403	0.003	0.0	5008	,	,		18768	0.0		0.001	False		,,,				2504	0.0					uc003khl.4																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23						c.(1417-1419)tCg>tTg		Homo sapiens acyl-CoA thioesterase 12 (ACOT12), mRNA.		G	LEU/SER	3,4403	6.2+/-15.9	0,3,2200	77.0	73.0	74.0		1418	5.7	0.4	5	dbSNP_131	74	0,8600		0,0,4300	yes	missense	ACOT12	NM_130767.2	145	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging	473/556	80626733	3,13003	2203	4300	6503	SO:0001583	missense	134526				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity	g.chr5:80626733G>A	AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	24436	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 15"""	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.1418C>T	5.37:g.80626733G>A	ENSP00000303246:p.Ser473Leu					RNU5E-1_uc011cto.1_Intron	p.S473L	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)	13	1473	-		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)	473			START.		B3KVK9|Q5FWE9	Missense_Mutation	SNP	ENST00000307624.3	37	c.1418C>T	CCDS4055.1	3	0.0013736263736263737	2	0.0040650406504065045	0	0.0	0	0.0	1	0.0013192612137203166	G	21.9	4.212745	0.79352	6.81E-4	0.0	ENSG00000172497	ENST00000307624	D	0.89050	-2.46	5.74	5.74	0.90152	Lipid-binding START (2);START-like domain (1);	0.000000	0.64402	D	0.000001	D	0.94833	0.8331	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95172	0.8291	10	0.87932	D	0	-22.0383	15.4181	0.74987	0.0:0.0:1.0:0.0	.	473	Q8WYK0	ACO12_HUMAN	L	473	ENSP00000303246:S473L	ENSP00000303246:S473L	S	-	2	0	ACOT12	80662489	1.000000	0.71417	0.397000	0.26308	0.646000	0.38490	5.936000	0.70153	2.716000	0.92895	0.561000	0.74099	TCG		0.398	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	NM_130767		15	17	0	0	0	1	0	15	17				
CREBBP	1387	broad.mit.edu	37	16	3828107	3828107	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr16:3828107A>T	ENST00000262367.5	-	10	2827	c.2018T>A	c.(2017-2019)tTa>tAa	p.L673*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.L635*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	673					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTGTTTATGTAAACGCGACCT	0.433			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.3				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		0		p.R672C(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(2017-2019)tTa>tAa		Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.							117.0	135.0	129.0					16																	3828107		2197	4300	6497	SO:0001587	stop_gained	1387				N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3828107A>T	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.2018T>A	16.37:g.3828107A>T	ENSP00000262367:p.Leu673*					CREBBP_uc002cvw.3_Nonsense_Mutation_p.L635*	p.L673*	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	9	2222	-		Ovarian(90;0.0266)	673					D3DUC9|O00147|Q16376|Q4LE28	Nonsense_Mutation	SNP	ENST00000262367.5	37	c.2018T>A	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	A	48	14.364501	0.99792	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	.	.	.	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.2591	16.3265	0.82983	1.0:0.0:0.0:0.0	.	.	.	.	X	673;703;635	.	ENSP00000262367:L673X	L	-	2	0	CREBBP	3768108	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.251000	0.78297	2.313000	0.78055	0.455000	0.32223	TTA		0.433	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		7	152	0	0	0	1	0	7	152				
ATP2C2	9914	broad.mit.edu	37	16	84495624	84495624	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr16:84495624A>G	ENST00000262429.4	+	26	2700	c.2611A>G	c.(2611-2613)Agg>Ggg	p.R871G	ATP2C2_ENST00000416219.2_Missense_Mutation_p.R900G|ATP2C2_ENST00000420010.2_3'UTR|RP11-517C16.2_ENST00000565700.1_RNA	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	871					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CGGCTTTCTCAGGAACCACAT	0.587																																						uc010chj.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						c.(2698-2700)Agg>Ggg		Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.							140.0	152.0	148.0					16																	84495624		2084	4200	6284	SO:0001583	missense	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84495624A>G	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.2611A>G	16.37:g.84495624A>G	ENSP00000262429:p.Arg871Gly					ATP2C2_uc002fhx.3_Missense_Mutation_p.R871G|ATP2C2_uc002fhy.3_Missense_Mutation_p.R888G|ATP2C2_uc002fhz.3_Missense_Mutation_p.R720G|ATP2C2_uc002fia.3_Missense_Mutation_p.R182G	p.R900G	NM_014861	NP_055676	O75185	AT2C2_HUMAN			26	2787	+			871					B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	ENST00000262429.4	37	c.2698A>G	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	A	12.41	1.928504	0.34002	.	.	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	D;D	0.88354	-2.37;-2.37	5.28	-0.267	0.12938	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.159283	0.41938	D	0.000789	D	0.85652	0.5746	L	0.37630	1.12	0.39498	D	0.968157	B;B;B;B;B	0.32245	0.361;0.361;0.312;0.312;0.361	B;B;B;B;B	0.39771	0.216;0.309;0.205;0.205;0.309	T	0.79317	-0.1853	10	0.40728	T	0.16	.	17.021	0.86433	0.3644:0.6356:0.0:0.0	.	900;720;720;888;871	E7ES94;B3KR57;F8WAA5;O75185-2;O75185	.;.;.;.;AT2C2_HUMAN	G	900;871;720	ENSP00000397925:R900G;ENSP00000262429:R871G	ENSP00000262429:R871G	R	+	1	2	ATP2C2	83053125	0.994000	0.37717	0.935000	0.37517	0.479000	0.33129	0.439000	0.21575	-0.296000	0.08947	0.459000	0.35465	AGG		0.587	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		3	132	0	0	0	1	0	3	132				
SPTA1	6708	broad.mit.edu	37	1	158623172	158623172	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr1:158623172G>A	ENST00000368147.4	-	22	3260	c.3080C>T	c.(3079-3081)cCa>cTa	p.P1027L		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1027	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATAGACAGCTGGGACAATGCC	0.552																																						uc001fst.1																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(3079-3081)cCa>cTa		Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.							91.0	93.0	92.0					1																	158623172		2046	4175	6221	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158623172G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3080C>T	1.37:g.158623172G>A	ENSP00000357129:p.Pro1027Leu						p.P1027L	NM_003126	NP_003117	P02549	SPTA1_HUMAN			21	3279	-	all_hematologic(112;0.0378)		1027			SH3.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.3080C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803707	0.70682	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	D;D	0.90563	-2.69;-2.69	5.15	5.15	0.70609	Src homology-3 domain (4);Spectrin alpha chain, SH3 domain (1);	0.000000	0.31976	N	0.006762	D	0.96636	0.8902	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96817	0.9601	10	0.54805	T	0.06	.	17.367	0.87367	0.0:0.0:1.0:0.0	.	1027	P02549	SPTA1_HUMAN	L	1027	ENSP00000357130:P1027L;ENSP00000357129:P1027L	ENSP00000357129:P1027L	P	-	2	0	SPTA1	156889796	1.000000	0.71417	0.991000	0.47740	0.165000	0.22458	8.882000	0.92420	2.692000	0.91855	0.655000	0.94253	CCA		0.552	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		6	76	0	0	0	1	0	6	76				
PCDH11X	27328	broad.mit.edu	37	X	91873707	91873707	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chrX:91873707A>G	ENST00000373094.1	+	7	4657	c.3812A>G	c.(3811-3813)cAg>cGg	p.Q1271R	PCDH11X_ENST00000406881.1_Missense_Mutation_p.Q1263R|PCDH11X_ENST00000298274.8_Missense_Mutation_p.Q1234R|PCDH11X_ENST00000373088.1_Missense_Mutation_p.Q1234R|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000361655.2_Missense_Mutation_p.Q1253R|PCDH11X_ENST00000373097.1_Missense_Mutation_p.Q1261R	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1271					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CATCGTAGTCAGGCCCAATCA	0.547																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.2																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(3811-3813)cAg>cGg		Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.							231.0	207.0	215.0					X																	91873707		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91873707A>G	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3812A>G	X.37:g.91873707A>G	ENSP00000362186:p.Gln1271Arg					PCDH11X_uc004efl.2_Missense_Mutation_p.Q1261R|PCDH11X_uc010nmv.2_3'UTR|PCDH11X_uc004efm.2_Missense_Mutation_p.Q1263R|PCDH11X_uc004efn.2_Missense_Mutation_p.Q1253R|PCDH11X_uc004efo.2_Missense_Mutation_p.Q1234R	p.Q1271R	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			6	4657	+			1271					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.3812A>G	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	A	5.111	0.206096	0.09704	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.53423	0.65;0.66;0.67;0.62;0.66;0.66	4.28	1.13	0.20643	.	.	.	.	.	T	0.28599	0.0708	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B	0.29716	0.255;0.255;0.255;0.255;0.165	B;B;B;B;B	0.28784	0.094;0.094;0.094;0.094;0.043	T	0.20273	-1.0280	9	0.59425	D	0.04	.	4.615	0.12422	0.215:0.5407:0.0:0.2443	.	1234;1253;1263;1261;1271	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	R	1271;1261;1234;1253;1263;1271;1234	ENSP00000362186:Q1271R;ENSP00000362189:Q1261R;ENSP00000362180:Q1234R;ENSP00000355105:Q1253R;ENSP00000384758:Q1263R;ENSP00000298274:Q1234R	ENSP00000298274:Q1234R	Q	+	2	0	PCDH11X	91760363	0.000000	0.05858	0.001000	0.08648	0.056000	0.15407	-0.018000	0.12568	0.152000	0.19188	0.380000	0.24917	CAG		0.547	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		4	258	0	0	0	1	0	4	258				
ZNF608	57507	broad.mit.edu	37	5	124079864	124079864	+	Silent	SNP	T	T	C			TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr5:124079864T>C	ENST00000306315.5	-	1	1254	c.819A>G	c.(817-819)tcA>tcG	p.S273S	ZNF608_ENST00000504926.1_Intron	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	273							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CCATGAGCCCTGAATCCGGGG	0.562																																						uc003ktq.1																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(817-819)tcA>tcG		Homo sapiens zinc finger protein 608 (ZNF608), mRNA.							118.0	127.0	124.0					5																	124079864		2163	4224	6387	SO:0001819	synonymous_variant	57507					intracellular	zinc ion binding	g.chr5:124079864T>C	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.819A>G	5.37:g.124079864T>C						ZNF608_uc003ktr.1_Non-coding_Transcript|ZNF608_uc003kts.1_Silent_p.S273S|ZNF608_uc003ktt.1_Silent_p.S273S	p.S273S	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	0	1002	-		all_cancers(142;0.186)|Prostate(80;0.081)	273					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Silent	SNP	ENST00000306315.5	37	c.819A>G	CCDS34219.1																																																																																				0.562	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		4	212	0	0	0	1	0	4	212				
PIGZ	80235	broad.mit.edu	37	3	196675177	196675177	+	Silent	SNP	C	C	G	rs367792934		TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr3:196675177C>G	ENST00000412723.1	-	3	737	c.591G>C	c.(589-591)acG>acC	p.T197T	PIGZ_ENST00000443835.1_3'UTR	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	197					GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	alpha-1,2-mannosyltransferase activity (GO:0000026)|mannosyltransferase activity (GO:0000030)			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		TAGGGCCCCACGTTACATGGG	0.607																																						uc003fxh.3																			0				breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14						c.(589-591)acG>acC		Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Z (PIGZ), mRNA.							99.0	92.0	94.0					3																	196675177		2203	4300	6503	SO:0001819	synonymous_variant	80235				GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr3:196675177C>G	BC018804	CCDS3324.1	3q29	2013-02-26	2006-06-28		ENSG00000119227	ENSG00000119227		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	30596	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 4"", ""dol-P-Man dependent GPI mannosyltransferase"""	611671	"""phosphatidylinositol glycan, class Z"""			15208306	Standard	NM_025163		Approved	FLJ12768, MGC52163, SMP3	uc003fxh.3	Q86VD9	OTTHUMG00000155522	ENST00000412723.1:c.591G>C	3.37:g.196675177C>G							p.T197T	NM_025163	NP_079439	Q86VD9	PIGZ_HUMAN	Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)	2	738	-	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		197					Q9H9G6	Silent	SNP	ENST00000412723.1	37	c.591G>C	CCDS3324.1																																																																																				0.607	PIGZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340486.2	NM_025163		3	63	0	0	0	1	0	3	63				
PRR22	163154	broad.mit.edu	37	19	5783841	5783841	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr19:5783841delC	ENST00000419421.2	-	3	521	c.417delG	c.(415-417)gggfs	p.G139fs		NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	139	Pro-rich.									endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						GAAACTGGGGCCCCCCGGGTG	0.721																																						uc010xiv.1																			0				endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						c.(415-417)gggfs		Homo sapiens proline rich 22 (PRR22), mRNA.							4.0	6.0	5.0					19																	5783841		2004	4029	6033	SO:0001589	frameshift_variant	163154							g.chr19:5783841delC	BC023278	CCDS45933.1	19p13.3	2012-12-20			ENSG00000212123	ENSG00000212123			28354	protein-coding gene	gene with protein product						12477932	Standard	NM_001134316		Approved	MGC24975	uc010xiv.1	Q8IZ63	OTTHUMG00000180553	ENST00000419421.2:c.417delG	19.37:g.5783841delC	ENSP00000407653:p.Gly139fs					PRR22_uc002mdb.1_Frame_Shift_Del_p.G137fs	p.G139fs	NM_001134316	NP_001127788	Q8IZ63	PRR22_HUMAN			2	522	-			137			Pro-rich.		E9PB31	Frame_Shift_Del	DEL	ENST00000419421.2	37	c.417delG	CCDS45933.1																																																																																				0.721	PRR22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368523.1	NM_153359		2	4						2	4	---	---	---	---
ADAM33	80332	broad.mit.edu	37	20	3652627	3652627	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DJ-A2Q8-01A-11D-A18F-08	TCGA-DJ-A2Q8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa837b4d-55a7-4dcf-9fdf-cf9c13644df7	cf88aecb-dc11-4f6f-9072-bc153c7a62d9	g.chr20:3652627delG	ENST00000356518.2	-	15	1844	c.1603delC	c.(1603-1605)cacfs	p.H535fs	ADAM33_ENST00000350009.2_Frame_Shift_Del_p.H535fs|ADAM33_ENST00000466620.1_5'UTR|ADAM33_ENST00000379861.4_Frame_Shift_Del_p.H535fs	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	535	Cys-rich.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GGAGCTGGGTGGGAGCCTGAG	0.652																																						uc002wit.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						c.(1603-1605)cacfs		Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA.							16.0	15.0	15.0					20																	3652627		2161	4225	6386	SO:0001589	frameshift_variant	80332				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr20:3652627delG	AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"""ADAM metallopeptidase domain containing"""	15478	protein-coding gene	gene with protein product		607114	"""a disintegrin and metalloproteinase domain 33"", ""chromosome 20 open reading frame 153"""	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.1603delC	20.37:g.3652627delG	ENSP00000348912:p.His535fs					ADAM33_uc002wiq.1_5'Flank|ADAM33_uc002wir.1_Frame_Shift_Del_p.H535fs|ADAM33_uc002wis.3_Frame_Shift_Del_p.H57fs|ADAM33_uc002wiu.3_Frame_Shift_Del_p.H535fs|AX748440_uc002wiv.1_5'Flank|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron	p.H535fs	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN			14	1690	-			535			Cys-rich.		A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Frame_Shift_Del	DEL	ENST00000356518.2	37	c.1603delC	CCDS13058.1																																																																																				0.652	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	NM_025220		2	4						2	4	---	---	---	---
