#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_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ACSS3	79611	genome.wustl.edu	37	12	81545639	81545639	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr12:81545639C>T	ENST00000548058.1	+	6	1848	c.938C>T	c.(937-939)aCt>aTt	p.T313I	ACSS3_ENST00000548324.1_5'UTR|ACSS3_ENST00000261206.3_Missense_Mutation_p.T312I			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	313						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)	p.T313I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						ATTAGGCCCACTGGGGGATAC	0.383																																						dbGAP											1	Substitution - Missense(1)	breast(1)											124.0	120.0	121.0					12																	81545639		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.938C>T	12.37:g.81545639C>T	ENSP00000449535:p.Thr313Ile		Q8NC66	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448	p.T313I	ENST00000548058.1	37	c.938	CCDS9022.1	12	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303811	0.81136	.	.	ENSG00000111058	ENST00000548058;ENST00000261206	T;T	0.41065	1.01;1.01	5.63	5.63	0.86233	AMP-dependent synthetase/ligase (1);	0.095276	0.64402	D	0.000001	T	0.46502	0.1396	L	0.31845	0.965	0.80722	D	1	P	0.51933	0.949	P	0.50314	0.637	T	0.37776	-0.9691	10	0.51188	T	0.08	-19.3307	19.6777	0.95943	0.0:1.0:0.0:0.0	.	313	Q9H6R3	ACSS3_HUMAN	I	313;312	ENSP00000449535:T313I;ENSP00000261206:T312I	ENSP00000261206:T312I	T	+	2	0	ACSS3	80069770	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.163000	0.77524	2.669000	0.90835	0.650000	0.86243	ACT	ACSS3	-	pfam_AMP-dep_Synth/Lig	ENSG00000111058		0.383	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACSS3	HGNC	protein_coding	OTTHUMT00000407794.1	261	0.00	0	C	NM_024560		81545639	81545639	+1	no_errors	ENST00000548058	ensembl	human	known	69_37n	missense	335	28.87	136	SNP	1.000	T
ACSS3	79611	genome.wustl.edu	37	12	81545639	81545639	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr12:81545639C>T	ENST00000548058.1	+	6	1848	c.938C>T	c.(937-939)aCt>aTt	p.T313I	ACSS3_ENST00000548324.1_5'UTR|ACSS3_ENST00000261206.3_Missense_Mutation_p.T312I			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	313						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)	p.T313I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						ATTAGGCCCACTGGGGGATAC	0.383																																						dbGAP											1	Substitution - Missense(1)	breast(1)											124.0	120.0	121.0					12																	81545639		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.938C>T	12.37:g.81545639C>T	ENSP00000449535:p.Thr313Ile		Q8NC66	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448	p.T313I	ENST00000548058.1	37	c.938	CCDS9022.1	12	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303811	0.81136	.	.	ENSG00000111058	ENST00000548058;ENST00000261206	T;T	0.41065	1.01;1.01	5.63	5.63	0.86233	AMP-dependent synthetase/ligase (1);	0.095276	0.64402	D	0.000001	T	0.46502	0.1396	L	0.31845	0.965	0.80722	D	1	P	0.51933	0.949	P	0.50314	0.637	T	0.37776	-0.9691	10	0.51188	T	0.08	-19.3307	19.6777	0.95943	0.0:1.0:0.0:0.0	.	313	Q9H6R3	ACSS3_HUMAN	I	313;312	ENSP00000449535:T313I;ENSP00000261206:T312I	ENSP00000261206:T312I	T	+	2	0	ACSS3	80069770	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.163000	0.77524	2.669000	0.90835	0.650000	0.86243	ACT	ACSS3	-	pfam_AMP-dep_Synth/Lig	ENSG00000111058		0.383	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACSS3	HGNC	protein_coding	OTTHUMT00000407794.1	292	0.00	0	C	NM_024560		81545639	81545639	+1	no_errors	ENST00000548058	ensembl	human	known	69_37n	missense	335	28.87	136	SNP	1.000	T
ACSS3	79611	genome.wustl.edu	37	12	81545639	81545639	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr12:81545639C>T	ENST00000548058.1	+	6	1848	c.938C>T	c.(937-939)aCt>aTt	p.T313I	ACSS3_ENST00000548324.1_5'UTR|ACSS3_ENST00000261206.3_Missense_Mutation_p.T312I			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	313						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)	p.T313I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						ATTAGGCCCACTGGGGGATAC	0.383																																						dbGAP											1	Substitution - Missense(1)	breast(1)											124.0	120.0	121.0					12																	81545639		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.938C>T	12.37:g.81545639C>T	ENSP00000449535:p.Thr313Ile		Q8NC66	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448	p.T313I	ENST00000548058.1	37	c.938	CCDS9022.1	12	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303811	0.81136	.	.	ENSG00000111058	ENST00000548058;ENST00000261206	T;T	0.41065	1.01;1.01	5.63	5.63	0.86233	AMP-dependent synthetase/ligase (1);	0.095276	0.64402	D	0.000001	T	0.46502	0.1396	L	0.31845	0.965	0.80722	D	1	P	0.51933	0.949	P	0.50314	0.637	T	0.37776	-0.9691	10	0.51188	T	0.08	-19.3307	19.6777	0.95943	0.0:1.0:0.0:0.0	.	313	Q9H6R3	ACSS3_HUMAN	I	313;312	ENSP00000449535:T313I;ENSP00000261206:T312I	ENSP00000261206:T312I	T	+	2	0	ACSS3	80069770	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.163000	0.77524	2.669000	0.90835	0.650000	0.86243	ACT	ACSS3	-	pfam_AMP-dep_Synth/Lig	ENSG00000111058		0.383	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACSS3	HGNC	protein_coding	OTTHUMT00000407794.1	261	0.00	0	C	NM_024560		81545639	81545639	+1	no_errors	ENST00000548058	ensembl	human	known	69_37n	missense	243	28.95	99	SNP	1.000	T
ACSS3	79611	genome.wustl.edu	37	12	81545639	81545639	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr12:81545639C>T	ENST00000548058.1	+	6	1848	c.938C>T	c.(937-939)aCt>aTt	p.T313I	ACSS3_ENST00000548324.1_5'UTR|ACSS3_ENST00000261206.3_Missense_Mutation_p.T312I			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	313						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)	p.T313I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						ATTAGGCCCACTGGGGGATAC	0.383																																						dbGAP											1	Substitution - Missense(1)	breast(1)											124.0	120.0	121.0					12																	81545639		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.938C>T	12.37:g.81545639C>T	ENSP00000449535:p.Thr313Ile		Q8NC66	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448	p.T313I	ENST00000548058.1	37	c.938	CCDS9022.1	12	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303811	0.81136	.	.	ENSG00000111058	ENST00000548058;ENST00000261206	T;T	0.41065	1.01;1.01	5.63	5.63	0.86233	AMP-dependent synthetase/ligase (1);	0.095276	0.64402	D	0.000001	T	0.46502	0.1396	L	0.31845	0.965	0.80722	D	1	P	0.51933	0.949	P	0.50314	0.637	T	0.37776	-0.9691	10	0.51188	T	0.08	-19.3307	19.6777	0.95943	0.0:1.0:0.0:0.0	.	313	Q9H6R3	ACSS3_HUMAN	I	313;312	ENSP00000449535:T313I;ENSP00000261206:T312I	ENSP00000261206:T312I	T	+	2	0	ACSS3	80069770	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.163000	0.77524	2.669000	0.90835	0.650000	0.86243	ACT	ACSS3	-	pfam_AMP-dep_Synth/Lig	ENSG00000111058		0.383	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACSS3	HGNC	protein_coding	OTTHUMT00000407794.1	292	0.00	0	C	NM_024560		81545639	81545639	+1	no_errors	ENST00000548058	ensembl	human	known	69_37n	missense	243	28.95	99	SNP	1.000	T
AHCTF1	25909	genome.wustl.edu	37	1	247079596	247079596	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr1:247079596C>A	ENST00000391829.2	-	3	346	c.223G>T	c.(223-225)Gaa>Taa	p.E75*	AHCTF1_ENST00000366508.1_Nonsense_Mutation_p.E110*|AHCTF1_ENST00000326225.3_Nonsense_Mutation_p.E84*			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	75	Necessary for cytoplasmic localization. {ECO:0000250}.|Seven-bladed beta propeller repeats. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E75*(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GGAGGCTGTTCATTGACTCCA	0.418																																					Colon(145;197 1800 4745 15099 26333)	dbGAP											1	Substitution - Nonsense(1)	breast(1)											27.0	27.0	27.0					1																	247079596		2189	4278	6467	-	-	-	SO:0001587	stop_gained	0				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.223G>T	1.37:g.247079596C>A	ENSP00000375705:p.Glu75*		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Nonsense_Mutation	SNP	superfamily_Quinonprotein_ADH-like	p.E84*	ENST00000391829.2	37	c.250		1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.043567	0.55003	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	.	.	.	5.66	3.77	0.43336	.	0.319686	0.36444	N	0.002597	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-1.6849	16.1629	0.81732	0.0:0.7337:0.2663:0.0	.	.	.	.	X	110;84;75	.	ENSP00000355465:E84X	E	-	1	0	AHCTF1	245146219	1.000000	0.71417	0.483000	0.27378	0.444000	0.32077	4.412000	0.59787	0.725000	0.32318	0.561000	0.74099	GAA	AHCTF1	-	NULL	ENSG00000153207		0.418	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		50	0.00	0	C	NM_015446		247079596	247079596	-1	no_errors	ENST00000326225	ensembl	human	known	69_37n	nonsense	105	21.05	28	SNP	0.999	A
AHCTF1	25909	genome.wustl.edu	37	1	247079596	247079596	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr1:247079596C>A	ENST00000391829.2	-	3	346	c.223G>T	c.(223-225)Gaa>Taa	p.E75*	AHCTF1_ENST00000366508.1_Nonsense_Mutation_p.E110*|AHCTF1_ENST00000326225.3_Nonsense_Mutation_p.E84*			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	75	Necessary for cytoplasmic localization. {ECO:0000250}.|Seven-bladed beta propeller repeats. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E75*(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GGAGGCTGTTCATTGACTCCA	0.418																																					Colon(145;197 1800 4745 15099 26333)	dbGAP											1	Substitution - Nonsense(1)	breast(1)											27.0	27.0	27.0					1																	247079596		2189	4278	6467	-	-	-	SO:0001587	stop_gained	0				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.223G>T	1.37:g.247079596C>A	ENSP00000375705:p.Glu75*		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Nonsense_Mutation	SNP	superfamily_Quinonprotein_ADH-like	p.E84*	ENST00000391829.2	37	c.250		1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.043567	0.55003	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	.	.	.	5.66	3.77	0.43336	.	0.319686	0.36444	N	0.002597	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-1.6849	16.1629	0.81732	0.0:0.7337:0.2663:0.0	.	.	.	.	X	110;84;75	.	ENSP00000355465:E84X	E	-	1	0	AHCTF1	245146219	1.000000	0.71417	0.483000	0.27378	0.444000	0.32077	4.412000	0.59787	0.725000	0.32318	0.561000	0.74099	GAA	AHCTF1	-	NULL	ENSG00000153207		0.418	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		51	0.00	0	C	NM_015446		247079596	247079596	-1	no_errors	ENST00000326225	ensembl	human	known	69_37n	nonsense	105	21.05	28	SNP	0.999	A
AHCTF1	25909	genome.wustl.edu	37	1	247079596	247079596	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr1:247079596C>A	ENST00000391829.2	-	3	346	c.223G>T	c.(223-225)Gaa>Taa	p.E75*	AHCTF1_ENST00000366508.1_Nonsense_Mutation_p.E110*|AHCTF1_ENST00000326225.3_Nonsense_Mutation_p.E84*			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	75	Necessary for cytoplasmic localization. {ECO:0000250}.|Seven-bladed beta propeller repeats. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E75*(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GGAGGCTGTTCATTGACTCCA	0.418																																					Colon(145;197 1800 4745 15099 26333)	dbGAP											1	Substitution - Nonsense(1)	breast(1)											27.0	27.0	27.0					1																	247079596		2189	4278	6467	-	-	-	SO:0001587	stop_gained	0				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.223G>T	1.37:g.247079596C>A	ENSP00000375705:p.Glu75*		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Nonsense_Mutation	SNP	superfamily_Quinonprotein_ADH-like	p.E84*	ENST00000391829.2	37	c.250		1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.043567	0.55003	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	.	.	.	5.66	3.77	0.43336	.	0.319686	0.36444	N	0.002597	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-1.6849	16.1629	0.81732	0.0:0.7337:0.2663:0.0	.	.	.	.	X	110;84;75	.	ENSP00000355465:E84X	E	-	1	0	AHCTF1	245146219	1.000000	0.71417	0.483000	0.27378	0.444000	0.32077	4.412000	0.59787	0.725000	0.32318	0.561000	0.74099	GAA	AHCTF1	-	NULL	ENSG00000153207		0.418	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		50	0.00	0	C	NM_015446		247079596	247079596	-1	no_errors	ENST00000326225	ensembl	human	known	69_37n	nonsense	68	20.00	17	SNP	0.999	A
AHCTF1	25909	genome.wustl.edu	37	1	247079596	247079596	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr1:247079596C>A	ENST00000391829.2	-	3	346	c.223G>T	c.(223-225)Gaa>Taa	p.E75*	AHCTF1_ENST00000366508.1_Nonsense_Mutation_p.E110*|AHCTF1_ENST00000326225.3_Nonsense_Mutation_p.E84*			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	75	Necessary for cytoplasmic localization. {ECO:0000250}.|Seven-bladed beta propeller repeats. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E75*(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GGAGGCTGTTCATTGACTCCA	0.418																																					Colon(145;197 1800 4745 15099 26333)	dbGAP											1	Substitution - Nonsense(1)	breast(1)											27.0	27.0	27.0					1																	247079596		2189	4278	6467	-	-	-	SO:0001587	stop_gained	0				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.223G>T	1.37:g.247079596C>A	ENSP00000375705:p.Glu75*		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Nonsense_Mutation	SNP	superfamily_Quinonprotein_ADH-like	p.E84*	ENST00000391829.2	37	c.250		1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.043567	0.55003	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	.	.	.	5.66	3.77	0.43336	.	0.319686	0.36444	N	0.002597	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-1.6849	16.1629	0.81732	0.0:0.7337:0.2663:0.0	.	.	.	.	X	110;84;75	.	ENSP00000355465:E84X	E	-	1	0	AHCTF1	245146219	1.000000	0.71417	0.483000	0.27378	0.444000	0.32077	4.412000	0.59787	0.725000	0.32318	0.561000	0.74099	GAA	AHCTF1	-	NULL	ENSG00000153207		0.418	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		51	0.00	0	C	NM_015446		247079596	247079596	-1	no_errors	ENST00000326225	ensembl	human	known	69_37n	nonsense	68	20.00	17	SNP	0.999	A
AMOTL1	154810	genome.wustl.edu	37	11	94532836	94532836	+	Silent	SNP	G	G	A	rs373733166		TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr11:94532836G>A	ENST00000433060.2	+	3	621	c.480G>A	c.(478-480)ccG>ccA	p.P160P	AMOTL1_ENST00000317837.9_Silent_p.P160P|AMOTL1_ENST00000317829.8_Silent_p.P110P	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	160					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)	p.P160P(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				GCCAAGAACCGCAGGGTCAAG	0.542																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											67.0	71.0	70.0					11																	94532836		2136	4254	6390	-	-	-	SO:0001819	synonymous_variant	0			AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.480G>A	11.37:g.94532836G>A			Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Silent	SNP	pfam_Angiomotin_C,prints_Angiomotin	p.P160	ENST00000433060.2	37	c.480	CCDS44712.1	11																																																																																			AMOTL1	-	NULL	ENSG00000166025		0.542	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMOTL1	HGNC	protein_coding	OTTHUMT00000396474.3	80	0.00	0	G	NM_130847		94532836	94532836	+1	no_errors	ENST00000433060	ensembl	human	known	69_37n	silent	25	19.35	6	SNP	0.997	A
AMOTL1	154810	genome.wustl.edu	37	11	94532836	94532836	+	Silent	SNP	G	G	A	rs373733166		TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr11:94532836G>A	ENST00000433060.2	+	3	621	c.480G>A	c.(478-480)ccG>ccA	p.P160P	AMOTL1_ENST00000317837.9_Silent_p.P160P|AMOTL1_ENST00000317829.8_Silent_p.P110P	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	160					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)	p.P160P(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				GCCAAGAACCGCAGGGTCAAG	0.542																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											67.0	71.0	70.0					11																	94532836		2136	4254	6390	-	-	-	SO:0001819	synonymous_variant	0			AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.480G>A	11.37:g.94532836G>A			Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Silent	SNP	pfam_Angiomotin_C,prints_Angiomotin	p.P160	ENST00000433060.2	37	c.480	CCDS44712.1	11																																																																																			AMOTL1	-	NULL	ENSG00000166025		0.542	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMOTL1	HGNC	protein_coding	OTTHUMT00000396474.3	87	0.00	0	G	NM_130847		94532836	94532836	+1	no_errors	ENST00000433060	ensembl	human	known	69_37n	silent	25	19.35	6	SNP	0.997	A
AMOTL1	154810	genome.wustl.edu	37	11	94532836	94532836	+	Silent	SNP	G	G	A	rs373733166		TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr11:94532836G>A	ENST00000433060.2	+	3	621	c.480G>A	c.(478-480)ccG>ccA	p.P160P	AMOTL1_ENST00000317837.9_Silent_p.P160P|AMOTL1_ENST00000317829.8_Silent_p.P110P	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	160					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)	p.P160P(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				GCCAAGAACCGCAGGGTCAAG	0.542																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											67.0	71.0	70.0					11																	94532836		2136	4254	6390	-	-	-	SO:0001819	synonymous_variant	0			AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.480G>A	11.37:g.94532836G>A			Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Silent	SNP	pfam_Angiomotin_C,prints_Angiomotin	p.P160	ENST00000433060.2	37	c.480	CCDS44712.1	11																																																																																			AMOTL1	-	NULL	ENSG00000166025		0.542	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMOTL1	HGNC	protein_coding	OTTHUMT00000396474.3	80	0.00	0	G	NM_130847		94532836	94532836	+1	no_errors	ENST00000433060	ensembl	human	known	69_37n	silent	17	19.05	4	SNP	0.997	A
AMOTL1	154810	genome.wustl.edu	37	11	94532836	94532836	+	Silent	SNP	G	G	A	rs373733166		TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr11:94532836G>A	ENST00000433060.2	+	3	621	c.480G>A	c.(478-480)ccG>ccA	p.P160P	AMOTL1_ENST00000317837.9_Silent_p.P160P|AMOTL1_ENST00000317829.8_Silent_p.P110P	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	160					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)	p.P160P(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				GCCAAGAACCGCAGGGTCAAG	0.542																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											67.0	71.0	70.0					11																	94532836		2136	4254	6390	-	-	-	SO:0001819	synonymous_variant	0			AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.480G>A	11.37:g.94532836G>A			Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Silent	SNP	pfam_Angiomotin_C,prints_Angiomotin	p.P160	ENST00000433060.2	37	c.480	CCDS44712.1	11																																																																																			AMOTL1	-	NULL	ENSG00000166025		0.542	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMOTL1	HGNC	protein_coding	OTTHUMT00000396474.3	87	0.00	0	G	NM_130847		94532836	94532836	+1	no_errors	ENST00000433060	ensembl	human	known	69_37n	silent	17	19.05	4	SNP	0.997	A
ANPEP	290	genome.wustl.edu	37	15	90349393	90349393	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr15:90349393C>T	ENST00000300060.6	-	2	735	c.422G>A	c.(421-423)gGt>gAt	p.G141D		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	141	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.G141D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	GCCTCCCACACCACGCAGGAC	0.617																																					NSCLC(30;827 977 2459 19669 26125)	dbGAP											1	Substitution - Missense(1)	breast(1)											80.0	69.0	73.0					15																	90349393		2200	4299	6499	-	-	-	SO:0001583	missense	0			M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.422G>A	15.37:g.90349393C>T	ENSP00000300060:p.Gly141Asp		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.G141D	ENST00000300060.6	37	c.422	CCDS10356.1	15	.	.	.	.	.	.	.	.	.	.	C	11.96	1.795880	0.31777	.	.	ENSG00000166825	ENST00000300060	T	0.02395	4.31	5.07	3.07	0.35406	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	1.695860	0.02503	N	0.090695	T	0.06142	0.0159	L	0.39397	1.21	0.09310	N	1	P	0.49447	0.924	P	0.49301	0.606	T	0.47787	-0.9090	10	0.10902	T	0.67	.	11.3661	0.49673	0.0:0.6289:0.3711:0.0	.	141	P15144	AMPN_HUMAN	D	141	ENSP00000300060:G141D	ENSP00000300060:G141D	G	-	2	0	ANPEP	88150397	0.000000	0.05858	0.013000	0.15412	0.100000	0.18952	0.279000	0.18771	0.457000	0.26962	0.563000	0.77884	GGT	ANPEP	-	pfam_Peptidase_M1_N	ENSG00000166825		0.617	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANPEP	HGNC	protein_coding	OTTHUMT00000313425.1	112	0.00	0	C			90349393	90349393	-1	no_errors	ENST00000300060	ensembl	human	known	69_37n	missense	33	20.93	9	SNP	0.024	T
ANPEP	290	genome.wustl.edu	37	15	90349393	90349393	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr15:90349393C>T	ENST00000300060.6	-	2	735	c.422G>A	c.(421-423)gGt>gAt	p.G141D		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	141	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.G141D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	GCCTCCCACACCACGCAGGAC	0.617																																					NSCLC(30;827 977 2459 19669 26125)	dbGAP											1	Substitution - Missense(1)	breast(1)											80.0	69.0	73.0					15																	90349393		2200	4299	6499	-	-	-	SO:0001583	missense	0			M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.422G>A	15.37:g.90349393C>T	ENSP00000300060:p.Gly141Asp		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.G141D	ENST00000300060.6	37	c.422	CCDS10356.1	15	.	.	.	.	.	.	.	.	.	.	C	11.96	1.795880	0.31777	.	.	ENSG00000166825	ENST00000300060	T	0.02395	4.31	5.07	3.07	0.35406	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	1.695860	0.02503	N	0.090695	T	0.06142	0.0159	L	0.39397	1.21	0.09310	N	1	P	0.49447	0.924	P	0.49301	0.606	T	0.47787	-0.9090	10	0.10902	T	0.67	.	11.3661	0.49673	0.0:0.6289:0.3711:0.0	.	141	P15144	AMPN_HUMAN	D	141	ENSP00000300060:G141D	ENSP00000300060:G141D	G	-	2	0	ANPEP	88150397	0.000000	0.05858	0.013000	0.15412	0.100000	0.18952	0.279000	0.18771	0.457000	0.26962	0.563000	0.77884	GGT	ANPEP	-	pfam_Peptidase_M1_N	ENSG00000166825		0.617	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANPEP	HGNC	protein_coding	OTTHUMT00000313425.1	146	0.00	0	C			90349393	90349393	-1	no_errors	ENST00000300060	ensembl	human	known	69_37n	missense	33	20.93	9	SNP	0.024	T
ANPEP	290	genome.wustl.edu	37	15	90349393	90349393	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr15:90349393C>T	ENST00000300060.6	-	2	735	c.422G>A	c.(421-423)gGt>gAt	p.G141D		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	141	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.G141D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	GCCTCCCACACCACGCAGGAC	0.617																																					NSCLC(30;827 977 2459 19669 26125)	dbGAP											1	Substitution - Missense(1)	breast(1)											80.0	69.0	73.0					15																	90349393		2200	4299	6499	-	-	-	SO:0001583	missense	0			M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.422G>A	15.37:g.90349393C>T	ENSP00000300060:p.Gly141Asp		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.G141D	ENST00000300060.6	37	c.422	CCDS10356.1	15	.	.	.	.	.	.	.	.	.	.	C	11.96	1.795880	0.31777	.	.	ENSG00000166825	ENST00000300060	T	0.02395	4.31	5.07	3.07	0.35406	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	1.695860	0.02503	N	0.090695	T	0.06142	0.0159	L	0.39397	1.21	0.09310	N	1	P	0.49447	0.924	P	0.49301	0.606	T	0.47787	-0.9090	10	0.10902	T	0.67	.	11.3661	0.49673	0.0:0.6289:0.3711:0.0	.	141	P15144	AMPN_HUMAN	D	141	ENSP00000300060:G141D	ENSP00000300060:G141D	G	-	2	0	ANPEP	88150397	0.000000	0.05858	0.013000	0.15412	0.100000	0.18952	0.279000	0.18771	0.457000	0.26962	0.563000	0.77884	GGT	ANPEP	-	pfam_Peptidase_M1_N	ENSG00000166825		0.617	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANPEP	HGNC	protein_coding	OTTHUMT00000313425.1	112	0.00	0	C			90349393	90349393	-1	no_errors	ENST00000300060	ensembl	human	known	69_37n	missense	23	17.24	5	SNP	0.024	T
ANPEP	290	genome.wustl.edu	37	15	90349393	90349393	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr15:90349393C>T	ENST00000300060.6	-	2	735	c.422G>A	c.(421-423)gGt>gAt	p.G141D		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	141	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.G141D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	GCCTCCCACACCACGCAGGAC	0.617																																					NSCLC(30;827 977 2459 19669 26125)	dbGAP											1	Substitution - Missense(1)	breast(1)											80.0	69.0	73.0					15																	90349393		2200	4299	6499	-	-	-	SO:0001583	missense	0			M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.422G>A	15.37:g.90349393C>T	ENSP00000300060:p.Gly141Asp		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.G141D	ENST00000300060.6	37	c.422	CCDS10356.1	15	.	.	.	.	.	.	.	.	.	.	C	11.96	1.795880	0.31777	.	.	ENSG00000166825	ENST00000300060	T	0.02395	4.31	5.07	3.07	0.35406	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	1.695860	0.02503	N	0.090695	T	0.06142	0.0159	L	0.39397	1.21	0.09310	N	1	P	0.49447	0.924	P	0.49301	0.606	T	0.47787	-0.9090	10	0.10902	T	0.67	.	11.3661	0.49673	0.0:0.6289:0.3711:0.0	.	141	P15144	AMPN_HUMAN	D	141	ENSP00000300060:G141D	ENSP00000300060:G141D	G	-	2	0	ANPEP	88150397	0.000000	0.05858	0.013000	0.15412	0.100000	0.18952	0.279000	0.18771	0.457000	0.26962	0.563000	0.77884	GGT	ANPEP	-	pfam_Peptidase_M1_N	ENSG00000166825		0.617	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANPEP	HGNC	protein_coding	OTTHUMT00000313425.1	146	0.00	0	C			90349393	90349393	-1	no_errors	ENST00000300060	ensembl	human	known	69_37n	missense	23	17.24	5	SNP	0.024	T
CEPT1	10390	genome.wustl.edu	37	1	111724830	111724830	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr1:111724830A>T	ENST00000545121.1	+	6	944	c.736A>T	c.(736-738)Atg>Ttg	p.M246L	CEPT1_ENST00000467362.1_3'UTR|RP5-1180E21.4_ENST00000607951.1_RNA|RP5-1180E21.5_ENST00000610049.1_RNA|CEPT1_ENST00000357172.4_Missense_Mutation_p.M246L	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	246					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	diacylglycerol cholinephosphotransferase activity (GO:0004142)|ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)	p.M246L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	GAATATTCAAATGAAAATTTT	0.318																																						dbGAP											1	Substitution - Missense(1)	breast(1)											62.0	60.0	61.0					1																	111724830		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF068302	CCDS830.1	1p13	2010-07-08			ENSG00000134255	ENSG00000134255	2.7.8.1, 2.7.8.2		24289	protein-coding gene	gene with protein product						10191259, 12216837	Standard	XM_005270353		Approved		uc001eah.1	Q9Y6K0	OTTHUMG00000012357	ENST00000545121.1:c.736A>T	1.37:g.111724830A>T	ENSP00000441980:p.Met246Leu		Q69YJ9|Q9P0Y8	Missense_Mutation	SNP	pfam_CDP-OH_P_trans,pirsf_CHOPT	p.M246L	ENST00000545121.1	37	c.736	CCDS830.1	1	.	.	.	.	.	.	.	.	.	.	A	4.512	0.094987	0.08681	.	.	ENSG00000134255	ENST00000545121;ENST00000357172	T;T	0.38077	1.16;1.16	6.16	3.79	0.43588	.	0.164446	0.64402	D	0.000003	T	0.02610	0.0079	N	0.00811	-1.165	0.46631	D	0.999132	B	0.02656	0.0	B	0.04013	0.001	T	0.45220	-0.9276	10	0.02654	T	1	-23.719	7.4662	0.27322	0.7915:0.0:0.2085:0.0	.	246	Q9Y6K0	CEPT1_HUMAN	L	246	ENSP00000441980:M246L;ENSP00000349696:M246L	ENSP00000349696:M246L	M	+	1	0	CEPT1	111526353	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	0.947000	0.29082	0.523000	0.28482	0.528000	0.53228	ATG	CEPT1	-	pirsf_CHOPT	ENSG00000134255		0.318	CEPT1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CEPT1	HGNC	protein_coding	OTTHUMT00000034462.2	118	0.00	0	A	NM_006090		111724830	111724830	+1	no_errors	ENST00000357172	ensembl	human	known	69_37n	missense	197	25.94	69	SNP	1.000	T
CEPT1	10390	genome.wustl.edu	37	1	111724830	111724830	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr1:111724830A>T	ENST00000545121.1	+	6	944	c.736A>T	c.(736-738)Atg>Ttg	p.M246L	CEPT1_ENST00000467362.1_3'UTR|RP5-1180E21.4_ENST00000607951.1_RNA|RP5-1180E21.5_ENST00000610049.1_RNA|CEPT1_ENST00000357172.4_Missense_Mutation_p.M246L	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	246					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	diacylglycerol cholinephosphotransferase activity (GO:0004142)|ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)	p.M246L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	GAATATTCAAATGAAAATTTT	0.318																																						dbGAP											1	Substitution - Missense(1)	breast(1)											62.0	60.0	61.0					1																	111724830		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF068302	CCDS830.1	1p13	2010-07-08			ENSG00000134255	ENSG00000134255	2.7.8.1, 2.7.8.2		24289	protein-coding gene	gene with protein product						10191259, 12216837	Standard	XM_005270353		Approved		uc001eah.1	Q9Y6K0	OTTHUMG00000012357	ENST00000545121.1:c.736A>T	1.37:g.111724830A>T	ENSP00000441980:p.Met246Leu		Q69YJ9|Q9P0Y8	Missense_Mutation	SNP	pfam_CDP-OH_P_trans,pirsf_CHOPT	p.M246L	ENST00000545121.1	37	c.736	CCDS830.1	1	.	.	.	.	.	.	.	.	.	.	A	4.512	0.094987	0.08681	.	.	ENSG00000134255	ENST00000545121;ENST00000357172	T;T	0.38077	1.16;1.16	6.16	3.79	0.43588	.	0.164446	0.64402	D	0.000003	T	0.02610	0.0079	N	0.00811	-1.165	0.46631	D	0.999132	B	0.02656	0.0	B	0.04013	0.001	T	0.45220	-0.9276	10	0.02654	T	1	-23.719	7.4662	0.27322	0.7915:0.0:0.2085:0.0	.	246	Q9Y6K0	CEPT1_HUMAN	L	246	ENSP00000441980:M246L;ENSP00000349696:M246L	ENSP00000349696:M246L	M	+	1	0	CEPT1	111526353	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	0.947000	0.29082	0.523000	0.28482	0.528000	0.53228	ATG	CEPT1	-	pirsf_CHOPT	ENSG00000134255		0.318	CEPT1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CEPT1	HGNC	protein_coding	OTTHUMT00000034462.2	149	0.00	0	A	NM_006090		111724830	111724830	+1	no_errors	ENST00000357172	ensembl	human	known	69_37n	missense	197	25.94	69	SNP	1.000	T
CEPT1	10390	genome.wustl.edu	37	1	111724830	111724830	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr1:111724830A>T	ENST00000545121.1	+	6	944	c.736A>T	c.(736-738)Atg>Ttg	p.M246L	CEPT1_ENST00000467362.1_3'UTR|RP5-1180E21.4_ENST00000607951.1_RNA|RP5-1180E21.5_ENST00000610049.1_RNA|CEPT1_ENST00000357172.4_Missense_Mutation_p.M246L	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	246					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	diacylglycerol cholinephosphotransferase activity (GO:0004142)|ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)	p.M246L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	GAATATTCAAATGAAAATTTT	0.318																																						dbGAP											1	Substitution - Missense(1)	breast(1)											62.0	60.0	61.0					1																	111724830		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF068302	CCDS830.1	1p13	2010-07-08			ENSG00000134255	ENSG00000134255	2.7.8.1, 2.7.8.2		24289	protein-coding gene	gene with protein product						10191259, 12216837	Standard	XM_005270353		Approved		uc001eah.1	Q9Y6K0	OTTHUMG00000012357	ENST00000545121.1:c.736A>T	1.37:g.111724830A>T	ENSP00000441980:p.Met246Leu		Q69YJ9|Q9P0Y8	Missense_Mutation	SNP	pfam_CDP-OH_P_trans,pirsf_CHOPT	p.M246L	ENST00000545121.1	37	c.736	CCDS830.1	1	.	.	.	.	.	.	.	.	.	.	A	4.512	0.094987	0.08681	.	.	ENSG00000134255	ENST00000545121;ENST00000357172	T;T	0.38077	1.16;1.16	6.16	3.79	0.43588	.	0.164446	0.64402	D	0.000003	T	0.02610	0.0079	N	0.00811	-1.165	0.46631	D	0.999132	B	0.02656	0.0	B	0.04013	0.001	T	0.45220	-0.9276	10	0.02654	T	1	-23.719	7.4662	0.27322	0.7915:0.0:0.2085:0.0	.	246	Q9Y6K0	CEPT1_HUMAN	L	246	ENSP00000441980:M246L;ENSP00000349696:M246L	ENSP00000349696:M246L	M	+	1	0	CEPT1	111526353	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	0.947000	0.29082	0.523000	0.28482	0.528000	0.53228	ATG	CEPT1	-	pirsf_CHOPT	ENSG00000134255		0.318	CEPT1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CEPT1	HGNC	protein_coding	OTTHUMT00000034462.2	118	0.00	0	A	NM_006090		111724830	111724830	+1	no_errors	ENST00000357172	ensembl	human	known	69_37n	missense	143	26.29	51	SNP	1.000	T
CEPT1	10390	genome.wustl.edu	37	1	111724830	111724830	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr1:111724830A>T	ENST00000545121.1	+	6	944	c.736A>T	c.(736-738)Atg>Ttg	p.M246L	CEPT1_ENST00000467362.1_3'UTR|RP5-1180E21.4_ENST00000607951.1_RNA|RP5-1180E21.5_ENST00000610049.1_RNA|CEPT1_ENST00000357172.4_Missense_Mutation_p.M246L	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	246					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	diacylglycerol cholinephosphotransferase activity (GO:0004142)|ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)	p.M246L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	GAATATTCAAATGAAAATTTT	0.318																																						dbGAP											1	Substitution - Missense(1)	breast(1)											62.0	60.0	61.0					1																	111724830		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF068302	CCDS830.1	1p13	2010-07-08			ENSG00000134255	ENSG00000134255	2.7.8.1, 2.7.8.2		24289	protein-coding gene	gene with protein product						10191259, 12216837	Standard	XM_005270353		Approved		uc001eah.1	Q9Y6K0	OTTHUMG00000012357	ENST00000545121.1:c.736A>T	1.37:g.111724830A>T	ENSP00000441980:p.Met246Leu		Q69YJ9|Q9P0Y8	Missense_Mutation	SNP	pfam_CDP-OH_P_trans,pirsf_CHOPT	p.M246L	ENST00000545121.1	37	c.736	CCDS830.1	1	.	.	.	.	.	.	.	.	.	.	A	4.512	0.094987	0.08681	.	.	ENSG00000134255	ENST00000545121;ENST00000357172	T;T	0.38077	1.16;1.16	6.16	3.79	0.43588	.	0.164446	0.64402	D	0.000003	T	0.02610	0.0079	N	0.00811	-1.165	0.46631	D	0.999132	B	0.02656	0.0	B	0.04013	0.001	T	0.45220	-0.9276	10	0.02654	T	1	-23.719	7.4662	0.27322	0.7915:0.0:0.2085:0.0	.	246	Q9Y6K0	CEPT1_HUMAN	L	246	ENSP00000441980:M246L;ENSP00000349696:M246L	ENSP00000349696:M246L	M	+	1	0	CEPT1	111526353	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	0.947000	0.29082	0.523000	0.28482	0.528000	0.53228	ATG	CEPT1	-	pirsf_CHOPT	ENSG00000134255		0.318	CEPT1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CEPT1	HGNC	protein_coding	OTTHUMT00000034462.2	149	0.00	0	A	NM_006090		111724830	111724830	+1	no_errors	ENST00000357172	ensembl	human	known	69_37n	missense	143	26.29	51	SNP	1.000	T
COPB2	9276	genome.wustl.edu	37	3	139077630	139077630	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr3:139077630delC	ENST00000333188.5	-	20	2690	c.2509delG	c.(2509-2511)gaafs	p.E838fs	COPB2_ENST00000507777.1_Frame_Shift_Del_p.E809fs	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	838					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TTTCCCTCTTCCATGACATTT	0.363																																						dbGAP											0													140.0	125.0	130.0					3																	139077630		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.2509delG	3.37:g.139077630delC	ENSP00000329419:p.Glu838fs		B4DZI8	Frame_Shift_Del	DEL	pirsf_Coatomer_b'su,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E837fs	ENST00000333188.5	37	c.2509	CCDS3108.1	3																																																																																			COPB2	-	pirsf_Coatomer_b'su	ENSG00000184432		0.363	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPB2	HGNC	protein_coding	OTTHUMT00000358495.2	227	0.00	0	C	NM_004766		139077630	139077630	-1	no_errors	ENST00000333188	ensembl	human	known	69_37n	frame_shift_del	300	18.52	70	DEL	1.000	-
COPB2	9276	genome.wustl.edu	37	3	139077630	139077630	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr3:139077630delC	ENST00000333188.5	-	20	2690	c.2509delG	c.(2509-2511)gaafs	p.E838fs	COPB2_ENST00000507777.1_Frame_Shift_Del_p.E809fs	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	838					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TTTCCCTCTTCCATGACATTT	0.363																																						dbGAP											0													140.0	125.0	130.0					3																	139077630		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.2509delG	3.37:g.139077630delC	ENSP00000329419:p.Glu838fs		B4DZI8	Frame_Shift_Del	DEL	pirsf_Coatomer_b'su,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E837fs	ENST00000333188.5	37	c.2509	CCDS3108.1	3																																																																																			COPB2	-	pirsf_Coatomer_b'su	ENSG00000184432		0.363	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPB2	HGNC	protein_coding	OTTHUMT00000358495.2	229	0.00	0	C	NM_004766		139077630	139077630	-1	no_errors	ENST00000333188	ensembl	human	known	69_37n	frame_shift_del	300	18.52	70	DEL	1.000	-
COPB2	9276	genome.wustl.edu	37	3	139077630	139077630	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr3:139077630delC	ENST00000333188.5	-	20	2690	c.2509delG	c.(2509-2511)gaafs	p.E838fs	COPB2_ENST00000507777.1_Frame_Shift_Del_p.E809fs	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	838					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TTTCCCTCTTCCATGACATTT	0.363																																						dbGAP											0													140.0	125.0	130.0					3																	139077630		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.2509delG	3.37:g.139077630delC	ENSP00000329419:p.Glu838fs		B4DZI8	Frame_Shift_Del	DEL	pirsf_Coatomer_b'su,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E837fs	ENST00000333188.5	37	c.2509	CCDS3108.1	3																																																																																			COPB2	-	pirsf_Coatomer_b'su	ENSG00000184432		0.363	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPB2	HGNC	protein_coding	OTTHUMT00000358495.2	227	0.00	0	C	NM_004766		139077630	139077630	-1	no_errors	ENST00000333188	ensembl	human	known	69_37n	frame_shift_del	211	17.69	46	DEL	1.000	-
COPB2	9276	genome.wustl.edu	37	3	139077630	139077630	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr3:139077630delC	ENST00000333188.5	-	20	2690	c.2509delG	c.(2509-2511)gaafs	p.E838fs	COPB2_ENST00000507777.1_Frame_Shift_Del_p.E809fs	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	838					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TTTCCCTCTTCCATGACATTT	0.363																																						dbGAP											0													140.0	125.0	130.0					3																	139077630		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.2509delG	3.37:g.139077630delC	ENSP00000329419:p.Glu838fs		B4DZI8	Frame_Shift_Del	DEL	pirsf_Coatomer_b'su,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E837fs	ENST00000333188.5	37	c.2509	CCDS3108.1	3																																																																																			COPB2	-	pirsf_Coatomer_b'su	ENSG00000184432		0.363	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPB2	HGNC	protein_coding	OTTHUMT00000358495.2	229	0.00	0	C	NM_004766		139077630	139077630	-1	no_errors	ENST00000333188	ensembl	human	known	69_37n	frame_shift_del	211	17.69	46	DEL	1.000	-
COPB2	9276	genome.wustl.edu	37	3	139077631	139077632	+	Missense_Mutation	DNP	CA	CA	TG			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	C|A	C|A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr3:139077631_139077632CA>TG	ENST00000333188.5	-	20	2688_2689	c.2507_2508TG>CA	c.(2506-2508)aTG>aCA	p.M836T	COPB2_ENST00000507777.1_Missense_Mutation_p.M807T	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	836					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TTCCCTCTTCCATGACATTTCT	0.366																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.2507_2508delinsTG	3.37:g.139077631_139077632delinsTG	ENSP00000329419:p.Met836Thr		B4DZI8	Missense_Mutation	SNP	pirsf_Coatomer_b'su,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.M836I|p.M836T	ENST00000333188.5	37	c.2508|c.2507	CCDS3108.1	3																																																																																			COPB2	-	pirsf_Coatomer_b'su	ENSG00000184432		0.366	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPB2	HGNC	protein_coding	OTTHUMT00000358495.2	228|227	0.00	0	C|A	NM_004766		139077631|139077632	139077631|139077632	-1	no_errors	ENST00000333188	ensembl	human	known	69_37n	missense	304|299	19.16|19.68	73|74	SNP	1.000	T|G
COPB2	9276	genome.wustl.edu	37	3	139077631	139077632	+	Missense_Mutation	DNP	CA	CA	TG			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	C|A	C|A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr3:139077631_139077632CA>TG	ENST00000333188.5	-	20	2688_2689	c.2507_2508TG>CA	c.(2506-2508)aTG>aCA	p.M836T	COPB2_ENST00000507777.1_Missense_Mutation_p.M807T	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	836					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TTCCCTCTTCCATGACATTTCT	0.366																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.2507_2508delinsTG	3.37:g.139077631_139077632delinsTG	ENSP00000329419:p.Met836Thr		B4DZI8	Missense_Mutation	SNP	pirsf_Coatomer_b'su,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.M836I|p.M836T	ENST00000333188.5	37	c.2508|c.2507	CCDS3108.1	3																																																																																			COPB2	-	pirsf_Coatomer_b'su	ENSG00000184432		0.366	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPB2	HGNC	protein_coding	OTTHUMT00000358495.2	228|231	0.00	0	C|A	NM_004766		139077631|139077632	139077631|139077632	-1	no_errors	ENST00000333188	ensembl	human	known	69_37n	missense	304|299	19.16|19.68	73|74	SNP	1.000	T|G
COPB2	9276	genome.wustl.edu	37	3	139077631	139077632	+	Missense_Mutation	DNP	CA	CA	TG			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	C|A	C|A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr3:139077631_139077632CA>TG	ENST00000333188.5	-	20	2688_2689	c.2507_2508TG>CA	c.(2506-2508)aTG>aCA	p.M836T	COPB2_ENST00000507777.1_Missense_Mutation_p.M807T	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	836					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TTCCCTCTTCCATGACATTTCT	0.366																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.2507_2508delinsTG	3.37:g.139077631_139077632delinsTG	ENSP00000329419:p.Met836Thr		B4DZI8	Missense_Mutation	SNP	pirsf_Coatomer_b'su,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.M836I|p.M836T	ENST00000333188.5	37	c.2508|c.2507	CCDS3108.1	3																																																																																			COPB2	-	pirsf_Coatomer_b'su	ENSG00000184432		0.366	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPB2	HGNC	protein_coding	OTTHUMT00000358495.2	230|227	0.00	0	C|A	NM_004766		139077631|139077632	139077631|139077632	-1	no_errors	ENST00000333188	ensembl	human	known	69_37n	missense	304|299	19.16|19.68	73|74	SNP	1.000	T|G
COPB2	9276	genome.wustl.edu	37	3	139077631	139077632	+	Missense_Mutation	DNP	CA	CA	TG			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	C|A	C|A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr3:139077631_139077632CA>TG	ENST00000333188.5	-	20	2688_2689	c.2507_2508TG>CA	c.(2506-2508)aTG>aCA	p.M836T	COPB2_ENST00000507777.1_Missense_Mutation_p.M807T	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	836					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TTCCCTCTTCCATGACATTTCT	0.366																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.2507_2508delinsTG	3.37:g.139077631_139077632delinsTG	ENSP00000329419:p.Met836Thr		B4DZI8	Missense_Mutation	SNP	pirsf_Coatomer_b'su,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.M836I|p.M836T	ENST00000333188.5	37	c.2508|c.2507	CCDS3108.1	3																																																																																			COPB2	-	pirsf_Coatomer_b'su	ENSG00000184432		0.366	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPB2	HGNC	protein_coding	OTTHUMT00000358495.2	230|231	0.00	0	C|A	NM_004766		139077631|139077632	139077631|139077632	-1	no_errors	ENST00000333188	ensembl	human	known	69_37n	missense	304|299	19.16|19.68	73|74	SNP	1.000	T|G
COPB2	9276	genome.wustl.edu	37	3	139077631	139077632	+	Missense_Mutation	DNP	CA	CA	TG			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	C|A	C|A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr3:139077631_139077632CA>TG	ENST00000333188.5	-	20	2688_2689	c.2507_2508TG>CA	c.(2506-2508)aTG>aCA	p.M836T	COPB2_ENST00000507777.1_Missense_Mutation_p.M807T	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	836					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TTCCCTCTTCCATGACATTTCT	0.366																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.2507_2508delinsTG	3.37:g.139077631_139077632delinsTG	ENSP00000329419:p.Met836Thr		B4DZI8	Missense_Mutation	SNP	pirsf_Coatomer_b'su,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.M836I|p.M836T	ENST00000333188.5	37	c.2508|c.2507	CCDS3108.1	3																																																																																			COPB2	-	pirsf_Coatomer_b'su	ENSG00000184432		0.366	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPB2	HGNC	protein_coding	OTTHUMT00000358495.2	228|227	0.00	0	C|A	NM_004766		139077631|139077632	139077631|139077632	-1	no_errors	ENST00000333188	ensembl	human	known	69_37n	missense	211|207	18.85|19.46	49|50	SNP	1.000	T|G
COPB2	9276	genome.wustl.edu	37	3	139077631	139077632	+	Missense_Mutation	DNP	CA	CA	TG			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	C|A	C|A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr3:139077631_139077632CA>TG	ENST00000333188.5	-	20	2688_2689	c.2507_2508TG>CA	c.(2506-2508)aTG>aCA	p.M836T	COPB2_ENST00000507777.1_Missense_Mutation_p.M807T	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	836					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TTCCCTCTTCCATGACATTTCT	0.366																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.2507_2508delinsTG	3.37:g.139077631_139077632delinsTG	ENSP00000329419:p.Met836Thr		B4DZI8	Missense_Mutation	SNP	pirsf_Coatomer_b'su,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.M836I|p.M836T	ENST00000333188.5	37	c.2508|c.2507	CCDS3108.1	3																																																																																			COPB2	-	pirsf_Coatomer_b'su	ENSG00000184432		0.366	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPB2	HGNC	protein_coding	OTTHUMT00000358495.2	228|231	0.00	0	C|A	NM_004766		139077631|139077632	139077631|139077632	-1	no_errors	ENST00000333188	ensembl	human	known	69_37n	missense	211|207	18.85|19.46	49|50	SNP	1.000	T|G
COPB2	9276	genome.wustl.edu	37	3	139077631	139077632	+	Missense_Mutation	DNP	CA	CA	TG			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	C|A	C|A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr3:139077631_139077632CA>TG	ENST00000333188.5	-	20	2688_2689	c.2507_2508TG>CA	c.(2506-2508)aTG>aCA	p.M836T	COPB2_ENST00000507777.1_Missense_Mutation_p.M807T	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	836					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TTCCCTCTTCCATGACATTTCT	0.366																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.2507_2508delinsTG	3.37:g.139077631_139077632delinsTG	ENSP00000329419:p.Met836Thr		B4DZI8	Missense_Mutation	SNP	pirsf_Coatomer_b'su,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.M836I|p.M836T	ENST00000333188.5	37	c.2508|c.2507	CCDS3108.1	3																																																																																			COPB2	-	pirsf_Coatomer_b'su	ENSG00000184432		0.366	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPB2	HGNC	protein_coding	OTTHUMT00000358495.2	230|227	0.00	0	C|A	NM_004766		139077631|139077632	139077631|139077632	-1	no_errors	ENST00000333188	ensembl	human	known	69_37n	missense	211|207	18.85|19.46	49|50	SNP	1.000	T|G
COPB2	9276	genome.wustl.edu	37	3	139077631	139077632	+	Missense_Mutation	DNP	CA	CA	TG			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	C|A	C|A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr3:139077631_139077632CA>TG	ENST00000333188.5	-	20	2688_2689	c.2507_2508TG>CA	c.(2506-2508)aTG>aCA	p.M836T	COPB2_ENST00000507777.1_Missense_Mutation_p.M807T	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	836					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TTCCCTCTTCCATGACATTTCT	0.366																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.2507_2508delinsTG	3.37:g.139077631_139077632delinsTG	ENSP00000329419:p.Met836Thr		B4DZI8	Missense_Mutation	SNP	pirsf_Coatomer_b'su,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.M836I|p.M836T	ENST00000333188.5	37	c.2508|c.2507	CCDS3108.1	3																																																																																			COPB2	-	pirsf_Coatomer_b'su	ENSG00000184432		0.366	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPB2	HGNC	protein_coding	OTTHUMT00000358495.2	230|231	0.00	0	C|A	NM_004766		139077631|139077632	139077631|139077632	-1	no_errors	ENST00000333188	ensembl	human	known	69_37n	missense	211|207	18.85|19.46	49|50	SNP	1.000	T|G
DPP10	57628	genome.wustl.edu	37	2	116572515	116572515	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr2:116572515A>T	ENST00000410059.1	+	20	2327	c.1847A>T	c.(1846-1848)cAt>cTt	p.H616L	DPP10_ENST00000310323.8_Missense_Mutation_p.H609L|DPP10_ENST00000393147.2_Missense_Mutation_p.H620L|DPP10_ENST00000409163.1_Missense_Mutation_p.H566L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	616						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.H609L(1)|p.H616L(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CAGGAGATTCATCGAAGATTA	0.398																																						dbGAP											2	Substitution - Missense(2)	breast(2)											117.0	122.0	120.0					2																	116572515		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1847A>T	2.37:g.116572515A>T	ENSP00000386565:p.His616Leu		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.H620L	ENST00000410059.1	37	c.1859	CCDS46400.1	2	.	.	.	.	.	.	.	.	.	.	A	20.3	3.961562	0.74016	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	5.16	5.16	0.70880	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.053655	0.64402	D	0.000001	T	0.51550	0.1681	L	0.58354	1.805	0.58432	D	0.999999	P;D;P;P	0.89917	0.93;1.0;0.943;0.943	P;D;P;P	0.87578	0.53;0.998;0.759;0.661	T	0.52823	-0.8524	10	0.62326	D	0.03	-22.2413	14.3232	0.66502	1.0:0.0:0.0:0.0	.	609;620;612;616	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	L	616;566;620;609;566	ENSP00000386565:H616L;ENSP00000387038:H566L;ENSP00000376855:H620L;ENSP00000309066:H609L	ENSP00000309066:H609L	H	+	2	0	DPP10	116288985	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	8.529000	0.90602	2.182000	0.69389	0.533000	0.62120	CAT	DPP10	-	pfam_Peptidase_S9	ENSG00000175497		0.398	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	HGNC	protein_coding	OTTHUMT00000330580.4	169	0.00	0	A	NM_020868		116572515	116572515	+1	no_errors	ENST00000393147	ensembl	human	known	69_37n	missense	202	22.01	57	SNP	1.000	T
DPP10	57628	genome.wustl.edu	37	2	116572515	116572515	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr2:116572515A>T	ENST00000410059.1	+	20	2327	c.1847A>T	c.(1846-1848)cAt>cTt	p.H616L	DPP10_ENST00000310323.8_Missense_Mutation_p.H609L|DPP10_ENST00000393147.2_Missense_Mutation_p.H620L|DPP10_ENST00000409163.1_Missense_Mutation_p.H566L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	616						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.H609L(1)|p.H616L(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CAGGAGATTCATCGAAGATTA	0.398																																						dbGAP											2	Substitution - Missense(2)	breast(2)											117.0	122.0	120.0					2																	116572515		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1847A>T	2.37:g.116572515A>T	ENSP00000386565:p.His616Leu		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.H620L	ENST00000410059.1	37	c.1859	CCDS46400.1	2	.	.	.	.	.	.	.	.	.	.	A	20.3	3.961562	0.74016	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	5.16	5.16	0.70880	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.053655	0.64402	D	0.000001	T	0.51550	0.1681	L	0.58354	1.805	0.58432	D	0.999999	P;D;P;P	0.89917	0.93;1.0;0.943;0.943	P;D;P;P	0.87578	0.53;0.998;0.759;0.661	T	0.52823	-0.8524	10	0.62326	D	0.03	-22.2413	14.3232	0.66502	1.0:0.0:0.0:0.0	.	609;620;612;616	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	L	616;566;620;609;566	ENSP00000386565:H616L;ENSP00000387038:H566L;ENSP00000376855:H620L;ENSP00000309066:H609L	ENSP00000309066:H609L	H	+	2	0	DPP10	116288985	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	8.529000	0.90602	2.182000	0.69389	0.533000	0.62120	CAT	DPP10	-	pfam_Peptidase_S9	ENSG00000175497		0.398	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	HGNC	protein_coding	OTTHUMT00000330580.4	184	0.00	0	A	NM_020868		116572515	116572515	+1	no_errors	ENST00000393147	ensembl	human	known	69_37n	missense	202	22.01	57	SNP	1.000	T
DPP10	57628	genome.wustl.edu	37	2	116572515	116572515	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr2:116572515A>T	ENST00000410059.1	+	20	2327	c.1847A>T	c.(1846-1848)cAt>cTt	p.H616L	DPP10_ENST00000310323.8_Missense_Mutation_p.H609L|DPP10_ENST00000393147.2_Missense_Mutation_p.H620L|DPP10_ENST00000409163.1_Missense_Mutation_p.H566L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	616						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.H609L(1)|p.H616L(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CAGGAGATTCATCGAAGATTA	0.398																																						dbGAP											2	Substitution - Missense(2)	breast(2)											117.0	122.0	120.0					2																	116572515		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1847A>T	2.37:g.116572515A>T	ENSP00000386565:p.His616Leu		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.H620L	ENST00000410059.1	37	c.1859	CCDS46400.1	2	.	.	.	.	.	.	.	.	.	.	A	20.3	3.961562	0.74016	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	5.16	5.16	0.70880	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.053655	0.64402	D	0.000001	T	0.51550	0.1681	L	0.58354	1.805	0.58432	D	0.999999	P;D;P;P	0.89917	0.93;1.0;0.943;0.943	P;D;P;P	0.87578	0.53;0.998;0.759;0.661	T	0.52823	-0.8524	10	0.62326	D	0.03	-22.2413	14.3232	0.66502	1.0:0.0:0.0:0.0	.	609;620;612;616	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	L	616;566;620;609;566	ENSP00000386565:H616L;ENSP00000387038:H566L;ENSP00000376855:H620L;ENSP00000309066:H609L	ENSP00000309066:H609L	H	+	2	0	DPP10	116288985	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	8.529000	0.90602	2.182000	0.69389	0.533000	0.62120	CAT	DPP10	-	pfam_Peptidase_S9	ENSG00000175497		0.398	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	HGNC	protein_coding	OTTHUMT00000330580.4	169	0.00	0	A	NM_020868		116572515	116572515	+1	no_errors	ENST00000393147	ensembl	human	known	69_37n	missense	141	23.37	43	SNP	1.000	T
DPP10	57628	genome.wustl.edu	37	2	116572515	116572515	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr2:116572515A>T	ENST00000410059.1	+	20	2327	c.1847A>T	c.(1846-1848)cAt>cTt	p.H616L	DPP10_ENST00000310323.8_Missense_Mutation_p.H609L|DPP10_ENST00000393147.2_Missense_Mutation_p.H620L|DPP10_ENST00000409163.1_Missense_Mutation_p.H566L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	616						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.H609L(1)|p.H616L(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CAGGAGATTCATCGAAGATTA	0.398																																						dbGAP											2	Substitution - Missense(2)	breast(2)											117.0	122.0	120.0					2																	116572515		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1847A>T	2.37:g.116572515A>T	ENSP00000386565:p.His616Leu		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.H620L	ENST00000410059.1	37	c.1859	CCDS46400.1	2	.	.	.	.	.	.	.	.	.	.	A	20.3	3.961562	0.74016	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	5.16	5.16	0.70880	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.053655	0.64402	D	0.000001	T	0.51550	0.1681	L	0.58354	1.805	0.58432	D	0.999999	P;D;P;P	0.89917	0.93;1.0;0.943;0.943	P;D;P;P	0.87578	0.53;0.998;0.759;0.661	T	0.52823	-0.8524	10	0.62326	D	0.03	-22.2413	14.3232	0.66502	1.0:0.0:0.0:0.0	.	609;620;612;616	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	L	616;566;620;609;566	ENSP00000386565:H616L;ENSP00000387038:H566L;ENSP00000376855:H620L;ENSP00000309066:H609L	ENSP00000309066:H609L	H	+	2	0	DPP10	116288985	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	8.529000	0.90602	2.182000	0.69389	0.533000	0.62120	CAT	DPP10	-	pfam_Peptidase_S9	ENSG00000175497		0.398	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	HGNC	protein_coding	OTTHUMT00000330580.4	184	0.00	0	A	NM_020868		116572515	116572515	+1	no_errors	ENST00000393147	ensembl	human	known	69_37n	missense	141	23.37	43	SNP	1.000	T
DPYSL2	1808	genome.wustl.edu	37	8	26484190	26484190	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr8:26484190G>A	ENST00000311151.5	+	5	948	c.536G>A	c.(535-537)tGc>tAc	p.C179Y	DPYSL2_ENST00000521913.1_Missense_Mutation_p.C143Y|DPYSL2_ENST00000523027.1_Missense_Mutation_p.C143Y	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	179					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|olfactory bulb development (GO:0021772)|positive regulation of glutamate secretion (GO:0014049)|pyrimidine nucleobase catabolic process (GO:0006208)|regulation of neuron differentiation (GO:0045664)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|synaptic vesicle transport (GO:0048489)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	dihydropyrimidinase activity (GO:0004157)	p.C179Y(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		CTAACGGATTGCCAGGTAAGA	0.468																																						dbGAP											1	Substitution - Missense(1)	breast(1)											122.0	109.0	113.0					8																	26484190		2203	4300	6503	-	-	-	SO:0001583	missense	0			D78013	CCDS6051.1, CCDS59096.1	8p22-p21	2011-09-28			ENSG00000092964	ENSG00000092964			3014	protein-coding gene	gene with protein product		602463				8973361	Standard	NM_001197293		Approved	DRP-2, DHPRP2, CRMP2, DRP2	uc003xfa.3	Q16555	OTTHUMG00000099439	ENST00000311151.5:c.536G>A	8.37:g.26484190G>A	ENSP00000309539:p.Cys179Tyr		A8K5H2|B4DR31|D3DSS7|O00424	Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.C179Y	ENST00000311151.5	37	c.536	CCDS6051.1	8	.	.	.	.	.	.	.	.	.	.	G	15.53	2.860147	0.51482	.	.	ENSG00000092964	ENST00000521913;ENST00000311151;ENST00000522745;ENST00000523027	D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56	5.64	3.81	0.43845	Amidohydrolase 1 (1);	0.183612	0.49916	D	0.000126	T	0.78811	0.4342	N	0.04203	-0.255	0.29693	N	0.840781	B;B;B	0.24882	0.095;0.113;0.113	B;B;B	0.26770	0.031;0.073;0.045	T	0.73193	-0.4060	10	0.72032	D	0.01	-12.303	16.0429	0.80698	0.0:0.7354:0.2646:0.0	.	179;179;235	Q53ET2;Q16555;Q59GB4	.;DPYL2_HUMAN;.	Y	143;179;179;143	ENSP00000427985:C143Y;ENSP00000309539:C179Y;ENSP00000428909:C179Y;ENSP00000431117:C143Y	ENSP00000309539:C179Y	C	+	2	0	DPYSL2	26540107	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.000000	0.57039	0.705000	0.31890	-0.165000	0.13383	TGC	DPYSL2	-	pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase	ENSG00000092964		0.468	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL2	HGNC	protein_coding	OTTHUMT00000216904.3	204	0.00	0	G	NM_001386		26484190	26484190	+1	no_errors	ENST00000311151	ensembl	human	known	69_37n	missense	174	24.68	57	SNP	1.000	A
DPYSL2	1808	genome.wustl.edu	37	8	26484190	26484190	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr8:26484190G>A	ENST00000311151.5	+	5	948	c.536G>A	c.(535-537)tGc>tAc	p.C179Y	DPYSL2_ENST00000521913.1_Missense_Mutation_p.C143Y|DPYSL2_ENST00000523027.1_Missense_Mutation_p.C143Y	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	179					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|olfactory bulb development (GO:0021772)|positive regulation of glutamate secretion (GO:0014049)|pyrimidine nucleobase catabolic process (GO:0006208)|regulation of neuron differentiation (GO:0045664)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|synaptic vesicle transport (GO:0048489)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	dihydropyrimidinase activity (GO:0004157)	p.C179Y(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		CTAACGGATTGCCAGGTAAGA	0.468																																						dbGAP											1	Substitution - Missense(1)	breast(1)											122.0	109.0	113.0					8																	26484190		2203	4300	6503	-	-	-	SO:0001583	missense	0			D78013	CCDS6051.1, CCDS59096.1	8p22-p21	2011-09-28			ENSG00000092964	ENSG00000092964			3014	protein-coding gene	gene with protein product		602463				8973361	Standard	NM_001197293		Approved	DRP-2, DHPRP2, CRMP2, DRP2	uc003xfa.3	Q16555	OTTHUMG00000099439	ENST00000311151.5:c.536G>A	8.37:g.26484190G>A	ENSP00000309539:p.Cys179Tyr		A8K5H2|B4DR31|D3DSS7|O00424	Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.C179Y	ENST00000311151.5	37	c.536	CCDS6051.1	8	.	.	.	.	.	.	.	.	.	.	G	15.53	2.860147	0.51482	.	.	ENSG00000092964	ENST00000521913;ENST00000311151;ENST00000522745;ENST00000523027	D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56	5.64	3.81	0.43845	Amidohydrolase 1 (1);	0.183612	0.49916	D	0.000126	T	0.78811	0.4342	N	0.04203	-0.255	0.29693	N	0.840781	B;B;B	0.24882	0.095;0.113;0.113	B;B;B	0.26770	0.031;0.073;0.045	T	0.73193	-0.4060	10	0.72032	D	0.01	-12.303	16.0429	0.80698	0.0:0.7354:0.2646:0.0	.	179;179;235	Q53ET2;Q16555;Q59GB4	.;DPYL2_HUMAN;.	Y	143;179;179;143	ENSP00000427985:C143Y;ENSP00000309539:C179Y;ENSP00000428909:C179Y;ENSP00000431117:C143Y	ENSP00000309539:C179Y	C	+	2	0	DPYSL2	26540107	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.000000	0.57039	0.705000	0.31890	-0.165000	0.13383	TGC	DPYSL2	-	pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase	ENSG00000092964		0.468	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL2	HGNC	protein_coding	OTTHUMT00000216904.3	244	0.00	0	G	NM_001386		26484190	26484190	+1	no_errors	ENST00000311151	ensembl	human	known	69_37n	missense	174	24.68	57	SNP	1.000	A
DPYSL2	1808	genome.wustl.edu	37	8	26484190	26484190	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr8:26484190G>A	ENST00000311151.5	+	5	948	c.536G>A	c.(535-537)tGc>tAc	p.C179Y	DPYSL2_ENST00000521913.1_Missense_Mutation_p.C143Y|DPYSL2_ENST00000523027.1_Missense_Mutation_p.C143Y	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	179					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|olfactory bulb development (GO:0021772)|positive regulation of glutamate secretion (GO:0014049)|pyrimidine nucleobase catabolic process (GO:0006208)|regulation of neuron differentiation (GO:0045664)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|synaptic vesicle transport (GO:0048489)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	dihydropyrimidinase activity (GO:0004157)	p.C179Y(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		CTAACGGATTGCCAGGTAAGA	0.468																																						dbGAP											1	Substitution - Missense(1)	breast(1)											122.0	109.0	113.0					8																	26484190		2203	4300	6503	-	-	-	SO:0001583	missense	0			D78013	CCDS6051.1, CCDS59096.1	8p22-p21	2011-09-28			ENSG00000092964	ENSG00000092964			3014	protein-coding gene	gene with protein product		602463				8973361	Standard	NM_001197293		Approved	DRP-2, DHPRP2, CRMP2, DRP2	uc003xfa.3	Q16555	OTTHUMG00000099439	ENST00000311151.5:c.536G>A	8.37:g.26484190G>A	ENSP00000309539:p.Cys179Tyr		A8K5H2|B4DR31|D3DSS7|O00424	Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.C179Y	ENST00000311151.5	37	c.536	CCDS6051.1	8	.	.	.	.	.	.	.	.	.	.	G	15.53	2.860147	0.51482	.	.	ENSG00000092964	ENST00000521913;ENST00000311151;ENST00000522745;ENST00000523027	D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56	5.64	3.81	0.43845	Amidohydrolase 1 (1);	0.183612	0.49916	D	0.000126	T	0.78811	0.4342	N	0.04203	-0.255	0.29693	N	0.840781	B;B;B	0.24882	0.095;0.113;0.113	B;B;B	0.26770	0.031;0.073;0.045	T	0.73193	-0.4060	10	0.72032	D	0.01	-12.303	16.0429	0.80698	0.0:0.7354:0.2646:0.0	.	179;179;235	Q53ET2;Q16555;Q59GB4	.;DPYL2_HUMAN;.	Y	143;179;179;143	ENSP00000427985:C143Y;ENSP00000309539:C179Y;ENSP00000428909:C179Y;ENSP00000431117:C143Y	ENSP00000309539:C179Y	C	+	2	0	DPYSL2	26540107	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.000000	0.57039	0.705000	0.31890	-0.165000	0.13383	TGC	DPYSL2	-	pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase	ENSG00000092964		0.468	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL2	HGNC	protein_coding	OTTHUMT00000216904.3	204	0.00	0	G	NM_001386		26484190	26484190	+1	no_errors	ENST00000311151	ensembl	human	known	69_37n	missense	128	24.71	42	SNP	1.000	A
DPYSL2	1808	genome.wustl.edu	37	8	26484190	26484190	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr8:26484190G>A	ENST00000311151.5	+	5	948	c.536G>A	c.(535-537)tGc>tAc	p.C179Y	DPYSL2_ENST00000521913.1_Missense_Mutation_p.C143Y|DPYSL2_ENST00000523027.1_Missense_Mutation_p.C143Y	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	179					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|olfactory bulb development (GO:0021772)|positive regulation of glutamate secretion (GO:0014049)|pyrimidine nucleobase catabolic process (GO:0006208)|regulation of neuron differentiation (GO:0045664)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|synaptic vesicle transport (GO:0048489)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	dihydropyrimidinase activity (GO:0004157)	p.C179Y(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		CTAACGGATTGCCAGGTAAGA	0.468																																						dbGAP											1	Substitution - Missense(1)	breast(1)											122.0	109.0	113.0					8																	26484190		2203	4300	6503	-	-	-	SO:0001583	missense	0			D78013	CCDS6051.1, CCDS59096.1	8p22-p21	2011-09-28			ENSG00000092964	ENSG00000092964			3014	protein-coding gene	gene with protein product		602463				8973361	Standard	NM_001197293		Approved	DRP-2, DHPRP2, CRMP2, DRP2	uc003xfa.3	Q16555	OTTHUMG00000099439	ENST00000311151.5:c.536G>A	8.37:g.26484190G>A	ENSP00000309539:p.Cys179Tyr		A8K5H2|B4DR31|D3DSS7|O00424	Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.C179Y	ENST00000311151.5	37	c.536	CCDS6051.1	8	.	.	.	.	.	.	.	.	.	.	G	15.53	2.860147	0.51482	.	.	ENSG00000092964	ENST00000521913;ENST00000311151;ENST00000522745;ENST00000523027	D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56	5.64	3.81	0.43845	Amidohydrolase 1 (1);	0.183612	0.49916	D	0.000126	T	0.78811	0.4342	N	0.04203	-0.255	0.29693	N	0.840781	B;B;B	0.24882	0.095;0.113;0.113	B;B;B	0.26770	0.031;0.073;0.045	T	0.73193	-0.4060	10	0.72032	D	0.01	-12.303	16.0429	0.80698	0.0:0.7354:0.2646:0.0	.	179;179;235	Q53ET2;Q16555;Q59GB4	.;DPYL2_HUMAN;.	Y	143;179;179;143	ENSP00000427985:C143Y;ENSP00000309539:C179Y;ENSP00000428909:C179Y;ENSP00000431117:C143Y	ENSP00000309539:C179Y	C	+	2	0	DPYSL2	26540107	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.000000	0.57039	0.705000	0.31890	-0.165000	0.13383	TGC	DPYSL2	-	pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase	ENSG00000092964		0.468	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL2	HGNC	protein_coding	OTTHUMT00000216904.3	244	0.00	0	G	NM_001386		26484190	26484190	+1	no_errors	ENST00000311151	ensembl	human	known	69_37n	missense	128	24.71	42	SNP	1.000	A
NUTM2G	441457	genome.wustl.edu	37	9	99701178	99701178	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr9:99701178A>C	ENST00000372322.3	+	7	1994	c.1973A>C	c.(1972-1974)cAg>cCg	p.Q658P	HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000354649.3_Intron	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	658								p.Q658P(1)									AGAGGACCCCAGGGAGCTCTT	0.607																																						dbGAP											1	Substitution - Missense(1)	breast(1)											61.0	77.0	73.0					9																	99701178		639	1591	2230	-	-	-	SO:0001583	missense	0				CCDS43854.1, CCDS55329.1	9q22.33	2013-05-02	2013-03-14	2013-05-02	ENSG00000188152	ENSG00000188152			23449	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member G"""	FAM22G			Standard	NM_001045477		Approved			Q5VZR2	OTTHUMG00000020305	ENST00000372322.3:c.1973A>C	9.37:g.99701178A>C	ENSP00000361397:p.Gln658Pro		A6NNI5|Q5VZR3	Missense_Mutation	SNP	NULL	p.Q658P	ENST00000372322.3	37	c.1973	CCDS55329.1	9	.	.	.	.	.	.	.	.	.	.	.	2.245	-0.372953	0.05034	.	.	ENSG00000188152	ENST00000372322;ENST00000417159;ENST00000375230	T	0.14144	2.53	0.505	-1.01	0.10169	.	2.460800	0.01739	N	0.029303	T	0.18923	0.0454	M	0.65498	2.005	0.09310	N	1	.	.	.	.	.	.	T	0.18745	-1.0327	7	0.27785	T	0.31	.	.	.	.	.	.	.	.	P	658;507;539	ENSP00000361397:Q658P	ENSP00000361397:Q658P	Q	+	2	0	FAM22G	98740999	0.000000	0.05858	0.009000	0.14445	0.092000	0.18411	-0.299000	0.08254	-0.392000	0.07751	0.147000	0.16070	CAG	FAM22G	-	NULL	ENSG00000188152		0.607	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM22G	HGNC	protein_coding	OTTHUMT00000053291.2	157	0.00	0	A	NM_001170741		99701178	99701178	+1	no_errors	ENST00000372322	ensembl	human	known	69_37n	missense	113	13.64	18	SNP	0.009	C
NUTM2G	441457	genome.wustl.edu	37	9	99701178	99701178	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr9:99701178A>C	ENST00000372322.3	+	7	1994	c.1973A>C	c.(1972-1974)cAg>cCg	p.Q658P	HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000354649.3_Intron	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	658								p.Q658P(1)									AGAGGACCCCAGGGAGCTCTT	0.607																																						dbGAP											1	Substitution - Missense(1)	breast(1)											61.0	77.0	73.0					9																	99701178		639	1591	2230	-	-	-	SO:0001583	missense	0				CCDS43854.1, CCDS55329.1	9q22.33	2013-05-02	2013-03-14	2013-05-02	ENSG00000188152	ENSG00000188152			23449	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member G"""	FAM22G			Standard	NM_001045477		Approved			Q5VZR2	OTTHUMG00000020305	ENST00000372322.3:c.1973A>C	9.37:g.99701178A>C	ENSP00000361397:p.Gln658Pro		A6NNI5|Q5VZR3	Missense_Mutation	SNP	NULL	p.Q658P	ENST00000372322.3	37	c.1973	CCDS55329.1	9	.	.	.	.	.	.	.	.	.	.	.	2.245	-0.372953	0.05034	.	.	ENSG00000188152	ENST00000372322;ENST00000417159;ENST00000375230	T	0.14144	2.53	0.505	-1.01	0.10169	.	2.460800	0.01739	N	0.029303	T	0.18923	0.0454	M	0.65498	2.005	0.09310	N	1	.	.	.	.	.	.	T	0.18745	-1.0327	7	0.27785	T	0.31	.	.	.	.	.	.	.	.	P	658;507;539	ENSP00000361397:Q658P	ENSP00000361397:Q658P	Q	+	2	0	FAM22G	98740999	0.000000	0.05858	0.009000	0.14445	0.092000	0.18411	-0.299000	0.08254	-0.392000	0.07751	0.147000	0.16070	CAG	FAM22G	-	NULL	ENSG00000188152		0.607	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM22G	HGNC	protein_coding	OTTHUMT00000053291.2	207	0.48	1	A	NM_001170741		99701178	99701178	+1	no_errors	ENST00000372322	ensembl	human	known	69_37n	missense	113	13.64	18	SNP	0.009	C
NUTM2G	441457	genome.wustl.edu	37	9	99701178	99701178	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr9:99701178A>C	ENST00000372322.3	+	7	1994	c.1973A>C	c.(1972-1974)cAg>cCg	p.Q658P	HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000354649.3_Intron	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	658								p.Q658P(1)									AGAGGACCCCAGGGAGCTCTT	0.607																																						dbGAP											1	Substitution - Missense(1)	breast(1)											61.0	77.0	73.0					9																	99701178		639	1591	2230	-	-	-	SO:0001583	missense	0				CCDS43854.1, CCDS55329.1	9q22.33	2013-05-02	2013-03-14	2013-05-02	ENSG00000188152	ENSG00000188152			23449	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member G"""	FAM22G			Standard	NM_001045477		Approved			Q5VZR2	OTTHUMG00000020305	ENST00000372322.3:c.1973A>C	9.37:g.99701178A>C	ENSP00000361397:p.Gln658Pro		A6NNI5|Q5VZR3	Missense_Mutation	SNP	NULL	p.Q658P	ENST00000372322.3	37	c.1973	CCDS55329.1	9	.	.	.	.	.	.	.	.	.	.	.	2.245	-0.372953	0.05034	.	.	ENSG00000188152	ENST00000372322;ENST00000417159;ENST00000375230	T	0.14144	2.53	0.505	-1.01	0.10169	.	2.460800	0.01739	N	0.029303	T	0.18923	0.0454	M	0.65498	2.005	0.09310	N	1	.	.	.	.	.	.	T	0.18745	-1.0327	7	0.27785	T	0.31	.	.	.	.	.	.	.	.	P	658;507;539	ENSP00000361397:Q658P	ENSP00000361397:Q658P	Q	+	2	0	FAM22G	98740999	0.000000	0.05858	0.009000	0.14445	0.092000	0.18411	-0.299000	0.08254	-0.392000	0.07751	0.147000	0.16070	CAG	FAM22G	-	NULL	ENSG00000188152		0.607	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM22G	HGNC	protein_coding	OTTHUMT00000053291.2	157	0.00	0	A	NM_001170741		99701178	99701178	+1	no_errors	ENST00000372322	ensembl	human	known	69_37n	missense	79	12.22	11	SNP	0.009	C
NUTM2G	441457	genome.wustl.edu	37	9	99701178	99701178	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr9:99701178A>C	ENST00000372322.3	+	7	1994	c.1973A>C	c.(1972-1974)cAg>cCg	p.Q658P	HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000354649.3_Intron	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	658								p.Q658P(1)									AGAGGACCCCAGGGAGCTCTT	0.607																																						dbGAP											1	Substitution - Missense(1)	breast(1)											61.0	77.0	73.0					9																	99701178		639	1591	2230	-	-	-	SO:0001583	missense	0				CCDS43854.1, CCDS55329.1	9q22.33	2013-05-02	2013-03-14	2013-05-02	ENSG00000188152	ENSG00000188152			23449	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member G"""	FAM22G			Standard	NM_001045477		Approved			Q5VZR2	OTTHUMG00000020305	ENST00000372322.3:c.1973A>C	9.37:g.99701178A>C	ENSP00000361397:p.Gln658Pro		A6NNI5|Q5VZR3	Missense_Mutation	SNP	NULL	p.Q658P	ENST00000372322.3	37	c.1973	CCDS55329.1	9	.	.	.	.	.	.	.	.	.	.	.	2.245	-0.372953	0.05034	.	.	ENSG00000188152	ENST00000372322;ENST00000417159;ENST00000375230	T	0.14144	2.53	0.505	-1.01	0.10169	.	2.460800	0.01739	N	0.029303	T	0.18923	0.0454	M	0.65498	2.005	0.09310	N	1	.	.	.	.	.	.	T	0.18745	-1.0327	7	0.27785	T	0.31	.	.	.	.	.	.	.	.	P	658;507;539	ENSP00000361397:Q658P	ENSP00000361397:Q658P	Q	+	2	0	FAM22G	98740999	0.000000	0.05858	0.009000	0.14445	0.092000	0.18411	-0.299000	0.08254	-0.392000	0.07751	0.147000	0.16070	CAG	FAM22G	-	NULL	ENSG00000188152		0.607	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM22G	HGNC	protein_coding	OTTHUMT00000053291.2	207	0.48	1	A	NM_001170741		99701178	99701178	+1	no_errors	ENST00000372322	ensembl	human	known	69_37n	missense	79	12.22	11	SNP	0.009	C
FCGR2A	2212	genome.wustl.edu	37	1	161475284	161475284	+	Silent	SNP	G	G	A			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr1:161475284G>A	ENST00000271450.6	+	1	65	c.27G>A	c.(25-27)caG>caA	p.Q9Q	FCGR2A_ENST00000367972.4_Silent_p.Q9Q	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	9					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q9Q(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AAATGTCTCAGAATGTATGTC	0.468																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											139.0	122.0	128.0					1																	161475284		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3616	protein-coding gene	gene with protein product	"""Immunoglobulin G Fc receptor II"""	146790	"""Fc fragment of IgG, low affinity IIa, receptor for (CD32)"""	FCG2, FCGR2A1, FCGR2		2139735	Standard	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.27G>A	1.37:g.161475284G>A			Q8WUN1|Q8WW64	Silent	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Q9	ENST00000271450.6	37	c.27	CCDS44264.1	1																																																																																			FCGR2A	-	NULL	ENSG00000143226		0.468	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCGR2A	HGNC	protein_coding	OTTHUMT00000083318.3	192	0.00	0	G	NM_021642		161475284	161475284	+1	no_errors	ENST00000271450	ensembl	human	known	69_37n	silent	135	21.97	38	SNP	0.000	A
FCGR2A	2212	genome.wustl.edu	37	1	161475284	161475284	+	Silent	SNP	G	G	A			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr1:161475284G>A	ENST00000271450.6	+	1	65	c.27G>A	c.(25-27)caG>caA	p.Q9Q	FCGR2A_ENST00000367972.4_Silent_p.Q9Q	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	9					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q9Q(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AAATGTCTCAGAATGTATGTC	0.468																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											139.0	122.0	128.0					1																	161475284		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3616	protein-coding gene	gene with protein product	"""Immunoglobulin G Fc receptor II"""	146790	"""Fc fragment of IgG, low affinity IIa, receptor for (CD32)"""	FCG2, FCGR2A1, FCGR2		2139735	Standard	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.27G>A	1.37:g.161475284G>A			Q8WUN1|Q8WW64	Silent	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Q9	ENST00000271450.6	37	c.27	CCDS44264.1	1																																																																																			FCGR2A	-	NULL	ENSG00000143226		0.468	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCGR2A	HGNC	protein_coding	OTTHUMT00000083318.3	222	0.00	0	G	NM_021642		161475284	161475284	+1	no_errors	ENST00000271450	ensembl	human	known	69_37n	silent	135	21.97	38	SNP	0.000	A
FCGR2A	2212	genome.wustl.edu	37	1	161475284	161475284	+	Silent	SNP	G	G	A			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr1:161475284G>A	ENST00000271450.6	+	1	65	c.27G>A	c.(25-27)caG>caA	p.Q9Q	FCGR2A_ENST00000367972.4_Silent_p.Q9Q	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	9					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q9Q(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AAATGTCTCAGAATGTATGTC	0.468																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											139.0	122.0	128.0					1																	161475284		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3616	protein-coding gene	gene with protein product	"""Immunoglobulin G Fc receptor II"""	146790	"""Fc fragment of IgG, low affinity IIa, receptor for (CD32)"""	FCG2, FCGR2A1, FCGR2		2139735	Standard	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.27G>A	1.37:g.161475284G>A			Q8WUN1|Q8WW64	Silent	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Q9	ENST00000271450.6	37	c.27	CCDS44264.1	1																																																																																			FCGR2A	-	NULL	ENSG00000143226		0.468	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCGR2A	HGNC	protein_coding	OTTHUMT00000083318.3	192	0.00	0	G	NM_021642		161475284	161475284	+1	no_errors	ENST00000271450	ensembl	human	known	69_37n	silent	91	22.22	26	SNP	0.000	A
FCGR2A	2212	genome.wustl.edu	37	1	161475284	161475284	+	Silent	SNP	G	G	A			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr1:161475284G>A	ENST00000271450.6	+	1	65	c.27G>A	c.(25-27)caG>caA	p.Q9Q	FCGR2A_ENST00000367972.4_Silent_p.Q9Q	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	9					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q9Q(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AAATGTCTCAGAATGTATGTC	0.468																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											139.0	122.0	128.0					1																	161475284		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3616	protein-coding gene	gene with protein product	"""Immunoglobulin G Fc receptor II"""	146790	"""Fc fragment of IgG, low affinity IIa, receptor for (CD32)"""	FCG2, FCGR2A1, FCGR2		2139735	Standard	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.27G>A	1.37:g.161475284G>A			Q8WUN1|Q8WW64	Silent	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Q9	ENST00000271450.6	37	c.27	CCDS44264.1	1																																																																																			FCGR2A	-	NULL	ENSG00000143226		0.468	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCGR2A	HGNC	protein_coding	OTTHUMT00000083318.3	222	0.00	0	G	NM_021642		161475284	161475284	+1	no_errors	ENST00000271450	ensembl	human	known	69_37n	silent	91	22.22	26	SNP	0.000	A
GAB4	128954	genome.wustl.edu	37	22	17450868	17450868	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr22:17450868C>G	ENST00000400588.1	-	4	1009	c.902G>C	c.(901-903)aGa>aCa	p.R301T	GAB4_ENST00000523144.1_Intron	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	301								p.R301T(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GAGGCTGCCTCTGGTGTGGCC	0.597																																						dbGAP											1	Substitution - Missense(1)	breast(1)											75.0	84.0	81.0					22																	17450868		2181	4294	6475	-	-	-	SO:0001583	missense	0			AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.902G>C	22.37:g.17450868C>G	ENSP00000383431:p.Arg301Thr			Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R301T	ENST00000400588.1	37	c.902	CCDS42976.1	22	.	.	.	.	.	.	.	.	.	.	C	3.968	-0.009050	0.07727	.	.	ENSG00000215568	ENST00000400588	T	0.33216	1.42	1.97	0.895	0.19247	.	0.491795	0.22527	N	0.058895	T	0.15349	0.0370	N	0.22421	0.69	0.21950	N	0.999458	B	0.31193	0.312	B	0.21708	0.036	T	0.12967	-1.0527	10	0.59425	D	0.04	.	5.0975	0.14740	0.0:0.176:0.0:0.824	.	301	Q2WGN9	GAB4_HUMAN	T	301	ENSP00000383431:R301T	ENSP00000383431:R301T	R	-	2	0	GAB4	15830868	1.000000	0.71417	0.996000	0.52242	0.029000	0.11900	3.236000	0.51336	0.212000	0.20703	-0.474000	0.04947	AGA	GAB4	-	NULL	ENSG00000215568		0.597	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAB4	HGNC	protein_coding	OTTHUMT00000315426.1	122	0.00	0	C	XM_372882		17450868	17450868	-1	no_errors	ENST00000400588	ensembl	human	known	69_37n	missense	29	35.56	16	SNP	0.989	G
GAB4	128954	genome.wustl.edu	37	22	17450868	17450868	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr22:17450868C>G	ENST00000400588.1	-	4	1009	c.902G>C	c.(901-903)aGa>aCa	p.R301T	GAB4_ENST00000523144.1_Intron	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	301								p.R301T(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GAGGCTGCCTCTGGTGTGGCC	0.597																																						dbGAP											1	Substitution - Missense(1)	breast(1)											75.0	84.0	81.0					22																	17450868		2181	4294	6475	-	-	-	SO:0001583	missense	0			AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.902G>C	22.37:g.17450868C>G	ENSP00000383431:p.Arg301Thr			Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R301T	ENST00000400588.1	37	c.902	CCDS42976.1	22	.	.	.	.	.	.	.	.	.	.	C	3.968	-0.009050	0.07727	.	.	ENSG00000215568	ENST00000400588	T	0.33216	1.42	1.97	0.895	0.19247	.	0.491795	0.22527	N	0.058895	T	0.15349	0.0370	N	0.22421	0.69	0.21950	N	0.999458	B	0.31193	0.312	B	0.21708	0.036	T	0.12967	-1.0527	10	0.59425	D	0.04	.	5.0975	0.14740	0.0:0.176:0.0:0.824	.	301	Q2WGN9	GAB4_HUMAN	T	301	ENSP00000383431:R301T	ENSP00000383431:R301T	R	-	2	0	GAB4	15830868	1.000000	0.71417	0.996000	0.52242	0.029000	0.11900	3.236000	0.51336	0.212000	0.20703	-0.474000	0.04947	AGA	GAB4	-	NULL	ENSG00000215568		0.597	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAB4	HGNC	protein_coding	OTTHUMT00000315426.1	122	0.00	0	C	XM_372882		17450868	17450868	-1	no_errors	ENST00000400588	ensembl	human	known	69_37n	missense	20	39.39	13	SNP	0.989	G
GTSE1	51512	genome.wustl.edu	37	22	46712235	46712235	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr22:46712235A>T	ENST00000454366.1	+	7	1570	c.1358A>T	c.(1357-1359)gAt>gTt	p.D453V		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	434					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)		p.D453V(1)|p.D434V(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		AGACGGCGAGATTCCTGTCTA	0.413																																					GBM(153;542 1915 12487 29016 50495)	dbGAP											2	Substitution - Missense(2)	breast(2)											88.0	103.0	98.0					22																	46712235		2191	4295	6486	-	-	-	SO:0001583	missense	0			AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.1358A>T	22.37:g.46712235A>T	ENSP00000415430:p.Asp453Val		B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	NULL	p.D453V	ENST00000454366.1	37	c.1358	CCDS14074.2	22	.	.	.	.	.	.	.	.	.	.	A	20.5	3.993926	0.74703	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.08008	3.14	4.98	1.14	0.20703	.	1.019950	0.07767	N	0.951022	T	0.22205	0.0535	M	0.67953	2.075	0.19575	N	0.999968	D;D	0.76494	0.999;0.999	D;D	0.74023	0.956;0.982	T	0.13282	-1.0515	10	0.72032	D	0.01	-13.8501	3.9127	0.09210	0.3361:0.3981:0.2658:0.0	.	434;413	Q9NYZ3;B4DZT6	GTSE1_HUMAN;.	V	453;413	ENSP00000415430:D453V	ENSP00000354634:D413V	D	+	2	0	GTSE1	45090899	0.000000	0.05858	0.070000	0.20053	0.895000	0.52256	-0.064000	0.11636	0.318000	0.23185	0.455000	0.32223	GAT	GTSE1	-	NULL	ENSG00000075218		0.413	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTSE1	HGNC	protein_coding	OTTHUMT00000318360.2	44	0.00	0	A	NM_016426		46712235	46712235	+1	no_errors	ENST00000454366	ensembl	human	known	69_37n	missense	43	32.81	21	SNP	0.000	T
GTSE1	51512	genome.wustl.edu	37	22	46712235	46712235	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr22:46712235A>T	ENST00000454366.1	+	7	1570	c.1358A>T	c.(1357-1359)gAt>gTt	p.D453V		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	434					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)		p.D453V(1)|p.D434V(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		AGACGGCGAGATTCCTGTCTA	0.413																																					GBM(153;542 1915 12487 29016 50495)	dbGAP											2	Substitution - Missense(2)	breast(2)											88.0	103.0	98.0					22																	46712235		2191	4295	6486	-	-	-	SO:0001583	missense	0			AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.1358A>T	22.37:g.46712235A>T	ENSP00000415430:p.Asp453Val		B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	NULL	p.D453V	ENST00000454366.1	37	c.1358	CCDS14074.2	22	.	.	.	.	.	.	.	.	.	.	A	20.5	3.993926	0.74703	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.08008	3.14	4.98	1.14	0.20703	.	1.019950	0.07767	N	0.951022	T	0.22205	0.0535	M	0.67953	2.075	0.19575	N	0.999968	D;D	0.76494	0.999;0.999	D;D	0.74023	0.956;0.982	T	0.13282	-1.0515	10	0.72032	D	0.01	-13.8501	3.9127	0.09210	0.3361:0.3981:0.2658:0.0	.	434;413	Q9NYZ3;B4DZT6	GTSE1_HUMAN;.	V	453;413	ENSP00000415430:D453V	ENSP00000354634:D413V	D	+	2	0	GTSE1	45090899	0.000000	0.05858	0.070000	0.20053	0.895000	0.52256	-0.064000	0.11636	0.318000	0.23185	0.455000	0.32223	GAT	GTSE1	-	NULL	ENSG00000075218		0.413	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTSE1	HGNC	protein_coding	OTTHUMT00000318360.2	45	0.00	0	A	NM_016426		46712235	46712235	+1	no_errors	ENST00000454366	ensembl	human	known	69_37n	missense	43	32.81	21	SNP	0.000	T
GTSE1	51512	genome.wustl.edu	37	22	46712235	46712235	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr22:46712235A>T	ENST00000454366.1	+	7	1570	c.1358A>T	c.(1357-1359)gAt>gTt	p.D453V		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	434					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)		p.D453V(1)|p.D434V(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		AGACGGCGAGATTCCTGTCTA	0.413																																					GBM(153;542 1915 12487 29016 50495)	dbGAP											2	Substitution - Missense(2)	breast(2)											88.0	103.0	98.0					22																	46712235		2191	4295	6486	-	-	-	SO:0001583	missense	0			AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.1358A>T	22.37:g.46712235A>T	ENSP00000415430:p.Asp453Val		B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	NULL	p.D453V	ENST00000454366.1	37	c.1358	CCDS14074.2	22	.	.	.	.	.	.	.	.	.	.	A	20.5	3.993926	0.74703	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.08008	3.14	4.98	1.14	0.20703	.	1.019950	0.07767	N	0.951022	T	0.22205	0.0535	M	0.67953	2.075	0.19575	N	0.999968	D;D	0.76494	0.999;0.999	D;D	0.74023	0.956;0.982	T	0.13282	-1.0515	10	0.72032	D	0.01	-13.8501	3.9127	0.09210	0.3361:0.3981:0.2658:0.0	.	434;413	Q9NYZ3;B4DZT6	GTSE1_HUMAN;.	V	453;413	ENSP00000415430:D453V	ENSP00000354634:D413V	D	+	2	0	GTSE1	45090899	0.000000	0.05858	0.070000	0.20053	0.895000	0.52256	-0.064000	0.11636	0.318000	0.23185	0.455000	0.32223	GAT	GTSE1	-	NULL	ENSG00000075218		0.413	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTSE1	HGNC	protein_coding	OTTHUMT00000318360.2	44	0.00	0	A	NM_016426		46712235	46712235	+1	no_errors	ENST00000454366	ensembl	human	known	69_37n	missense	28	31.71	13	SNP	0.000	T
GTSE1	51512	genome.wustl.edu	37	22	46712235	46712235	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr22:46712235A>T	ENST00000454366.1	+	7	1570	c.1358A>T	c.(1357-1359)gAt>gTt	p.D453V		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	434					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)		p.D453V(1)|p.D434V(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		AGACGGCGAGATTCCTGTCTA	0.413																																					GBM(153;542 1915 12487 29016 50495)	dbGAP											2	Substitution - Missense(2)	breast(2)											88.0	103.0	98.0					22																	46712235		2191	4295	6486	-	-	-	SO:0001583	missense	0			AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.1358A>T	22.37:g.46712235A>T	ENSP00000415430:p.Asp453Val		B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	NULL	p.D453V	ENST00000454366.1	37	c.1358	CCDS14074.2	22	.	.	.	.	.	.	.	.	.	.	A	20.5	3.993926	0.74703	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.08008	3.14	4.98	1.14	0.20703	.	1.019950	0.07767	N	0.951022	T	0.22205	0.0535	M	0.67953	2.075	0.19575	N	0.999968	D;D	0.76494	0.999;0.999	D;D	0.74023	0.956;0.982	T	0.13282	-1.0515	10	0.72032	D	0.01	-13.8501	3.9127	0.09210	0.3361:0.3981:0.2658:0.0	.	434;413	Q9NYZ3;B4DZT6	GTSE1_HUMAN;.	V	453;413	ENSP00000415430:D453V	ENSP00000354634:D413V	D	+	2	0	GTSE1	45090899	0.000000	0.05858	0.070000	0.20053	0.895000	0.52256	-0.064000	0.11636	0.318000	0.23185	0.455000	0.32223	GAT	GTSE1	-	NULL	ENSG00000075218		0.413	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTSE1	HGNC	protein_coding	OTTHUMT00000318360.2	45	0.00	0	A	NM_016426		46712235	46712235	+1	no_errors	ENST00000454366	ensembl	human	known	69_37n	missense	28	31.71	13	SNP	0.000	T
HKDC1	80201	genome.wustl.edu	37	10	71007230	71007230	+	Silent	SNP	G	G	T			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr10:71007230G>T	ENST00000354624.5	+	9	1279	c.1146G>T	c.(1144-1146)tcG>tcT	p.S382S	HKDC1_ENST00000395086.2_Silent_p.S382S	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	382	Hexokinase type-2 1.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)	p.S382S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CCTTCCGCTCGGCCAATCTCT	0.602																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											98.0	92.0	94.0					10																	71007230		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.1146G>T	10.37:g.71007230G>T			B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Silent	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.S382	ENST00000354624.5	37	c.1146	CCDS7288.1	10																																																																																			HKDC1	-	pfam_Hexokinase_C	ENSG00000156510		0.602	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HKDC1	HGNC	protein_coding	OTTHUMT00000048389.1	70	0.00	0	G	NM_025130		71007230	71007230	+1	no_errors	ENST00000354624	ensembl	human	known	69_37n	silent	32	11.11	4	SNP	0.000	T
HKDC1	80201	genome.wustl.edu	37	10	71007230	71007230	+	Silent	SNP	G	G	T			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr10:71007230G>T	ENST00000354624.5	+	9	1279	c.1146G>T	c.(1144-1146)tcG>tcT	p.S382S	HKDC1_ENST00000395086.2_Silent_p.S382S	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	382	Hexokinase type-2 1.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)	p.S382S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CCTTCCGCTCGGCCAATCTCT	0.602																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											98.0	92.0	94.0					10																	71007230		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.1146G>T	10.37:g.71007230G>T			B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Silent	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.S382	ENST00000354624.5	37	c.1146	CCDS7288.1	10																																																																																			HKDC1	-	pfam_Hexokinase_C	ENSG00000156510		0.602	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HKDC1	HGNC	protein_coding	OTTHUMT00000048389.1	72	0.00	0	G	NM_025130		71007230	71007230	+1	no_errors	ENST00000354624	ensembl	human	known	69_37n	silent	32	11.11	4	SNP	0.000	T
HKDC1	80201	genome.wustl.edu	37	10	71007230	71007230	+	Silent	SNP	G	G	T			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr10:71007230G>T	ENST00000354624.5	+	9	1279	c.1146G>T	c.(1144-1146)tcG>tcT	p.S382S	HKDC1_ENST00000395086.2_Silent_p.S382S	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	382	Hexokinase type-2 1.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)	p.S382S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CCTTCCGCTCGGCCAATCTCT	0.602																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											98.0	92.0	94.0					10																	71007230		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.1146G>T	10.37:g.71007230G>T			B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Silent	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.S382	ENST00000354624.5	37	c.1146	CCDS7288.1	10																																																																																			HKDC1	-	pfam_Hexokinase_C	ENSG00000156510		0.602	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HKDC1	HGNC	protein_coding	OTTHUMT00000048389.1	70	0.00	0	G	NM_025130		71007230	71007230	+1	no_errors	ENST00000354624	ensembl	human	known	69_37n	silent	23	14.81	4	SNP	0.000	T
HKDC1	80201	genome.wustl.edu	37	10	71007230	71007230	+	Silent	SNP	G	G	T			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr10:71007230G>T	ENST00000354624.5	+	9	1279	c.1146G>T	c.(1144-1146)tcG>tcT	p.S382S	HKDC1_ENST00000395086.2_Silent_p.S382S	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	382	Hexokinase type-2 1.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)	p.S382S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CCTTCCGCTCGGCCAATCTCT	0.602																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											98.0	92.0	94.0					10																	71007230		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.1146G>T	10.37:g.71007230G>T			B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Silent	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.S382	ENST00000354624.5	37	c.1146	CCDS7288.1	10																																																																																			HKDC1	-	pfam_Hexokinase_C	ENSG00000156510		0.602	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HKDC1	HGNC	protein_coding	OTTHUMT00000048389.1	72	0.00	0	G	NM_025130		71007230	71007230	+1	no_errors	ENST00000354624	ensembl	human	known	69_37n	silent	23	14.81	4	SNP	0.000	T
HMGXB4	10042	genome.wustl.edu	37	22	35661544	35661544	+	Frame_Shift_Del	DEL	A	A	-	rs76572304		TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr22:35661544delA	ENST00000216106.5	+	5	1291	c.1163delA	c.(1162-1164)gaafs	p.E388fs	HMGXB4_ENST00000444518.2_Frame_Shift_Del_p.E279fs	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	388					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGGCATAGTGAaaaaaaaaag	0.493																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"""High mobility group / Non-canonical"""	5003	protein-coding gene	gene with protein product		604702	"""high-mobility group protein 2-like 1"""	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.1163delA	22.37:g.35661544delA	ENSP00000216106:p.Glu388fs		O75672|O75673|Q9UMT5	Frame_Shift_Del	DEL	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.K391fs	ENST00000216106.5	37	c.1163	CCDS33641.1	22																																																																																			HMGXB4	-	superfamily_HMG_superfamily	ENSG00000100281		0.493	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HMGXB4	HGNC	protein_coding	OTTHUMT00000318104.2	50	0.00	0	A	NM_005487		35661544	35661544	+1	no_errors	ENST00000216106	ensembl	human	known	69_37n	frame_shift_del	34	10.53	4	DEL	1.000	-
LYZL6	57151	genome.wustl.edu	37	17	34264775	34264775	+	Silent	SNP	G	G	A			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr17:34264775G>A	ENST00000585556.1	-	3	619	c.285C>T	c.(283-285)caC>caT	p.H95H	LYZL6_ENST00000492340.2_5'UTR|LYZL6_ENST00000394523.3_Silent_p.H95H|LYZL6_ENST00000293274.4_Silent_p.H95H			O75951	LYZL6_HUMAN	lysozyme-like 6	95					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)	p.H95H(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GACAGTCTACGTGGCAAAGGT	0.512																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											104.0	95.0	98.0					17																	34264775		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF088219, AY742214	CCDS11302.1	17q11.2	2014-04-10			ENSG00000161572	ENSG00000275722			29614	protein-coding gene	gene with protein product		612751				10213461	Standard	NM_020426		Approved	LYC1, PRO1485, TKAL754	uc002hkj.2	O75951	OTTHUMG00000188400	ENST00000585556.1:c.285C>T	17.37:g.34264775G>A			Q6UW30	Missense_Mutation	SNP	pfam_Glyco_hydro_22,pfam_Lytic_TGlycosylase-like_cat,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22	p.T64M	ENST00000585556.1	37	c.191	CCDS11302.1	17																																																																																			LYZL6	-	pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22	ENSG00000161572		0.512	LYZL6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LYZL6	HGNC	protein_coding	OTTHUMT00000256578.2	126	0.00	0	G	NM_020426		34264775	34264775	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000492340	ensembl	human	known	69_37n	missense	52	42.86	39	SNP	0.078	A
LYZL6	57151	genome.wustl.edu	37	17	34264775	34264775	+	Silent	SNP	G	G	A			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr17:34264775G>A	ENST00000585556.1	-	3	619	c.285C>T	c.(283-285)caC>caT	p.H95H	LYZL6_ENST00000492340.2_5'UTR|LYZL6_ENST00000394523.3_Silent_p.H95H|LYZL6_ENST00000293274.4_Silent_p.H95H			O75951	LYZL6_HUMAN	lysozyme-like 6	95					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)	p.H95H(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GACAGTCTACGTGGCAAAGGT	0.512																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											104.0	95.0	98.0					17																	34264775		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF088219, AY742214	CCDS11302.1	17q11.2	2014-04-10			ENSG00000161572	ENSG00000275722			29614	protein-coding gene	gene with protein product		612751				10213461	Standard	NM_020426		Approved	LYC1, PRO1485, TKAL754	uc002hkj.2	O75951	OTTHUMG00000188400	ENST00000585556.1:c.285C>T	17.37:g.34264775G>A			Q6UW30	Missense_Mutation	SNP	pfam_Glyco_hydro_22,pfam_Lytic_TGlycosylase-like_cat,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22	p.T64M	ENST00000585556.1	37	c.191	CCDS11302.1	17																																																																																			LYZL6	-	pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22	ENSG00000161572		0.512	LYZL6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LYZL6	HGNC	protein_coding	OTTHUMT00000256578.2	155	0.00	0	G	NM_020426		34264775	34264775	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000492340	ensembl	human	known	69_37n	missense	52	42.86	39	SNP	0.078	A
LYZL6	57151	genome.wustl.edu	37	17	34264775	34264775	+	Silent	SNP	G	G	A			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr17:34264775G>A	ENST00000585556.1	-	3	619	c.285C>T	c.(283-285)caC>caT	p.H95H	LYZL6_ENST00000492340.2_5'UTR|LYZL6_ENST00000394523.3_Silent_p.H95H|LYZL6_ENST00000293274.4_Silent_p.H95H			O75951	LYZL6_HUMAN	lysozyme-like 6	95					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)	p.H95H(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GACAGTCTACGTGGCAAAGGT	0.512																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											104.0	95.0	98.0					17																	34264775		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF088219, AY742214	CCDS11302.1	17q11.2	2014-04-10			ENSG00000161572	ENSG00000275722			29614	protein-coding gene	gene with protein product		612751				10213461	Standard	NM_020426		Approved	LYC1, PRO1485, TKAL754	uc002hkj.2	O75951	OTTHUMG00000188400	ENST00000585556.1:c.285C>T	17.37:g.34264775G>A			Q6UW30	Missense_Mutation	SNP	pfam_Glyco_hydro_22,pfam_Lytic_TGlycosylase-like_cat,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22	p.T64M	ENST00000585556.1	37	c.191	CCDS11302.1	17																																																																																			LYZL6	-	pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22	ENSG00000161572		0.512	LYZL6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LYZL6	HGNC	protein_coding	OTTHUMT00000256578.2	126	0.00	0	G	NM_020426		34264775	34264775	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000492340	ensembl	human	known	69_37n	missense	36	42.86	27	SNP	0.078	A
LYZL6	57151	genome.wustl.edu	37	17	34264775	34264775	+	Silent	SNP	G	G	A			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr17:34264775G>A	ENST00000585556.1	-	3	619	c.285C>T	c.(283-285)caC>caT	p.H95H	LYZL6_ENST00000492340.2_5'UTR|LYZL6_ENST00000394523.3_Silent_p.H95H|LYZL6_ENST00000293274.4_Silent_p.H95H			O75951	LYZL6_HUMAN	lysozyme-like 6	95					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)	p.H95H(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GACAGTCTACGTGGCAAAGGT	0.512																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											104.0	95.0	98.0					17																	34264775		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF088219, AY742214	CCDS11302.1	17q11.2	2014-04-10			ENSG00000161572	ENSG00000275722			29614	protein-coding gene	gene with protein product		612751				10213461	Standard	NM_020426		Approved	LYC1, PRO1485, TKAL754	uc002hkj.2	O75951	OTTHUMG00000188400	ENST00000585556.1:c.285C>T	17.37:g.34264775G>A			Q6UW30	Missense_Mutation	SNP	pfam_Glyco_hydro_22,pfam_Lytic_TGlycosylase-like_cat,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22	p.T64M	ENST00000585556.1	37	c.191	CCDS11302.1	17																																																																																			LYZL6	-	pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22	ENSG00000161572		0.512	LYZL6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LYZL6	HGNC	protein_coding	OTTHUMT00000256578.2	155	0.00	0	G	NM_020426		34264775	34264775	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000492340	ensembl	human	known	69_37n	missense	36	42.86	27	SNP	0.078	A
MEF2C	4208	genome.wustl.edu	37	5	88018447	88018447	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr5:88018447G>A	ENST00000437473.2	-	11	1813	c.1396C>T	c.(1396-1398)Cga>Tga	p.R466*	MEF2C_ENST00000508569.1_Nonsense_Mutation_p.R426*|MEF2C_ENST00000539796.1_Nonsense_Mutation_p.R410*|MEF2C_ENST00000506554.1_3'UTR|CTC-467M3.1_ENST00000510274.1_RNA|MEF2C_ENST00000514028.1_Nonsense_Mutation_p.R466*|MEF2C_ENST00000424173.2_Nonsense_Mutation_p.R456*|MEF2C_ENST00000510942.1_Nonsense_Mutation_p.R458*|MEF2C_ENST00000504921.2_Nonsense_Mutation_p.R466*|MEF2C_ENST00000514015.1_Nonsense_Mutation_p.R434*|MEF2C_ENST00000340208.5_Nonsense_Mutation_p.R476*	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	466					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|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)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R466*(2)|p.R456*(1)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TCAGAAAGTCGCATGCGCTTG	0.498										HNSCC(66;0.2)																												dbGAP											3	Substitution - Nonsense(3)	breast(3)											164.0	168.0	166.0					5																	88018447		1944	4141	6085	-	-	-	SO:0001587	stop_gained	0			AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.1396C>T	5.37:g.88018447G>A	ENSP00000396219:p.Arg466*		C9JMZ0|D7F7N5|F8W7V7	Nonsense_Mutation	SNP	pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,prints_TF_MADSbox,pfscan_TF_MADSbox	p.R466*	ENST00000437473.2	37	c.1396	CCDS47245.1	5	.	.	.	.	.	.	.	.	.	.	G	40	8.460436	0.98820	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000508569;ENST00000514015;ENST00000539796	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.6879	19.3051	0.94158	0.0:0.0:1.0:0.0	.	.	.	.	X	476;456;466;466;466;458;426;434;410	.	ENSP00000340874:R476X	R	-	1	2	MEF2C	88054203	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.378000	0.97191	2.723000	0.93209	0.655000	0.94253	CGA	MEF2C	-	NULL	ENSG00000081189		0.498	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	MEF2C	HGNC	protein_coding	OTTHUMT00000369817.1	68	0.00	0	G	NM_002397		88018447	88018447	-1	no_errors	ENST00000437473	ensembl	human	known	69_37n	nonsense	37	32.73	18	SNP	1.000	A
MEF2C	4208	genome.wustl.edu	37	5	88018447	88018447	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr5:88018447G>A	ENST00000437473.2	-	11	1813	c.1396C>T	c.(1396-1398)Cga>Tga	p.R466*	MEF2C_ENST00000508569.1_Nonsense_Mutation_p.R426*|MEF2C_ENST00000539796.1_Nonsense_Mutation_p.R410*|MEF2C_ENST00000506554.1_3'UTR|CTC-467M3.1_ENST00000510274.1_RNA|MEF2C_ENST00000514028.1_Nonsense_Mutation_p.R466*|MEF2C_ENST00000424173.2_Nonsense_Mutation_p.R456*|MEF2C_ENST00000510942.1_Nonsense_Mutation_p.R458*|MEF2C_ENST00000504921.2_Nonsense_Mutation_p.R466*|MEF2C_ENST00000514015.1_Nonsense_Mutation_p.R434*|MEF2C_ENST00000340208.5_Nonsense_Mutation_p.R476*	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	466					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|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)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R466*(2)|p.R456*(1)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TCAGAAAGTCGCATGCGCTTG	0.498										HNSCC(66;0.2)																												dbGAP											3	Substitution - Nonsense(3)	breast(3)											164.0	168.0	166.0					5																	88018447		1944	4141	6085	-	-	-	SO:0001587	stop_gained	0			AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.1396C>T	5.37:g.88018447G>A	ENSP00000396219:p.Arg466*		C9JMZ0|D7F7N5|F8W7V7	Nonsense_Mutation	SNP	pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,prints_TF_MADSbox,pfscan_TF_MADSbox	p.R466*	ENST00000437473.2	37	c.1396	CCDS47245.1	5	.	.	.	.	.	.	.	.	.	.	G	40	8.460436	0.98820	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000508569;ENST00000514015;ENST00000539796	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.6879	19.3051	0.94158	0.0:0.0:1.0:0.0	.	.	.	.	X	476;456;466;466;466;458;426;434;410	.	ENSP00000340874:R476X	R	-	1	2	MEF2C	88054203	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.378000	0.97191	2.723000	0.93209	0.655000	0.94253	CGA	MEF2C	-	NULL	ENSG00000081189		0.498	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	MEF2C	HGNC	protein_coding	OTTHUMT00000369817.1	75	0.00	0	G	NM_002397		88018447	88018447	-1	no_errors	ENST00000437473	ensembl	human	known	69_37n	nonsense	37	32.73	18	SNP	1.000	A
MEF2C	4208	genome.wustl.edu	37	5	88018447	88018447	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr5:88018447G>A	ENST00000437473.2	-	11	1813	c.1396C>T	c.(1396-1398)Cga>Tga	p.R466*	MEF2C_ENST00000508569.1_Nonsense_Mutation_p.R426*|MEF2C_ENST00000539796.1_Nonsense_Mutation_p.R410*|MEF2C_ENST00000506554.1_3'UTR|CTC-467M3.1_ENST00000510274.1_RNA|MEF2C_ENST00000514028.1_Nonsense_Mutation_p.R466*|MEF2C_ENST00000424173.2_Nonsense_Mutation_p.R456*|MEF2C_ENST00000510942.1_Nonsense_Mutation_p.R458*|MEF2C_ENST00000504921.2_Nonsense_Mutation_p.R466*|MEF2C_ENST00000514015.1_Nonsense_Mutation_p.R434*|MEF2C_ENST00000340208.5_Nonsense_Mutation_p.R476*	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	466					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|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)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R466*(2)|p.R456*(1)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TCAGAAAGTCGCATGCGCTTG	0.498										HNSCC(66;0.2)																												dbGAP											3	Substitution - Nonsense(3)	breast(3)											164.0	168.0	166.0					5																	88018447		1944	4141	6085	-	-	-	SO:0001587	stop_gained	0			AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.1396C>T	5.37:g.88018447G>A	ENSP00000396219:p.Arg466*		C9JMZ0|D7F7N5|F8W7V7	Nonsense_Mutation	SNP	pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,prints_TF_MADSbox,pfscan_TF_MADSbox	p.R466*	ENST00000437473.2	37	c.1396	CCDS47245.1	5	.	.	.	.	.	.	.	.	.	.	G	40	8.460436	0.98820	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000508569;ENST00000514015;ENST00000539796	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.6879	19.3051	0.94158	0.0:0.0:1.0:0.0	.	.	.	.	X	476;456;466;466;466;458;426;434;410	.	ENSP00000340874:R476X	R	-	1	2	MEF2C	88054203	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.378000	0.97191	2.723000	0.93209	0.655000	0.94253	CGA	MEF2C	-	NULL	ENSG00000081189		0.498	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	MEF2C	HGNC	protein_coding	OTTHUMT00000369817.1	68	0.00	0	G	NM_002397		88018447	88018447	-1	no_errors	ENST00000437473	ensembl	human	known	69_37n	nonsense	26	23.53	8	SNP	1.000	A
MEF2C	4208	genome.wustl.edu	37	5	88018447	88018447	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr5:88018447G>A	ENST00000437473.2	-	11	1813	c.1396C>T	c.(1396-1398)Cga>Tga	p.R466*	MEF2C_ENST00000508569.1_Nonsense_Mutation_p.R426*|MEF2C_ENST00000539796.1_Nonsense_Mutation_p.R410*|MEF2C_ENST00000506554.1_3'UTR|CTC-467M3.1_ENST00000510274.1_RNA|MEF2C_ENST00000514028.1_Nonsense_Mutation_p.R466*|MEF2C_ENST00000424173.2_Nonsense_Mutation_p.R456*|MEF2C_ENST00000510942.1_Nonsense_Mutation_p.R458*|MEF2C_ENST00000504921.2_Nonsense_Mutation_p.R466*|MEF2C_ENST00000514015.1_Nonsense_Mutation_p.R434*|MEF2C_ENST00000340208.5_Nonsense_Mutation_p.R476*	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	466					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|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)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R466*(2)|p.R456*(1)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TCAGAAAGTCGCATGCGCTTG	0.498										HNSCC(66;0.2)																												dbGAP											3	Substitution - Nonsense(3)	breast(3)											164.0	168.0	166.0					5																	88018447		1944	4141	6085	-	-	-	SO:0001587	stop_gained	0			AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.1396C>T	5.37:g.88018447G>A	ENSP00000396219:p.Arg466*		C9JMZ0|D7F7N5|F8W7V7	Nonsense_Mutation	SNP	pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,prints_TF_MADSbox,pfscan_TF_MADSbox	p.R466*	ENST00000437473.2	37	c.1396	CCDS47245.1	5	.	.	.	.	.	.	.	.	.	.	G	40	8.460436	0.98820	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000508569;ENST00000514015;ENST00000539796	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.6879	19.3051	0.94158	0.0:0.0:1.0:0.0	.	.	.	.	X	476;456;466;466;466;458;426;434;410	.	ENSP00000340874:R476X	R	-	1	2	MEF2C	88054203	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.378000	0.97191	2.723000	0.93209	0.655000	0.94253	CGA	MEF2C	-	NULL	ENSG00000081189		0.498	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	MEF2C	HGNC	protein_coding	OTTHUMT00000369817.1	75	0.00	0	G	NM_002397		88018447	88018447	-1	no_errors	ENST00000437473	ensembl	human	known	69_37n	nonsense	26	23.53	8	SNP	1.000	A
MYO5A	4644	genome.wustl.edu	37	15	52620094	52620094	+	Silent	SNP	C	C	T			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr15:52620094C>T	ENST00000399231.3	-	35	4833	c.4590G>A	c.(4588-4590)agG>agA	p.R1530R	MYO5A_ENST00000553916.1_Silent_p.R1528R|MYO5A_ENST00000356338.6_Silent_p.R1503R|MYO5A_ENST00000399233.2_Silent_p.R1527R|MYO5A_ENST00000358212.6_Silent_p.R1555R	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1530					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)	p.R1530R(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TTAGCAACGACCTTACTTTCT	0.378																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											286.0	259.0	268.0					15																	52620094		1947	4158	6105	-	-	-	SO:0001819	synonymous_variant	0				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.4590G>A	15.37:g.52620094C>T			A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1555	ENST00000399231.3	37	c.4665	CCDS42037.1	15																																																																																			MYO5A	-	NULL	ENSG00000197535		0.378	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYO5A	HGNC	protein_coding	OTTHUMT00000268102.1	214	0.00	0	C	NM_000259		52620094	52620094	-1	no_errors	ENST00000358212	ensembl	human	known	69_37n	silent	258	24.12	82	SNP	1.000	T
MYO5A	4644	genome.wustl.edu	37	15	52620094	52620094	+	Silent	SNP	C	C	T			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr15:52620094C>T	ENST00000399231.3	-	35	4833	c.4590G>A	c.(4588-4590)agG>agA	p.R1530R	MYO5A_ENST00000553916.1_Silent_p.R1528R|MYO5A_ENST00000356338.6_Silent_p.R1503R|MYO5A_ENST00000399233.2_Silent_p.R1527R|MYO5A_ENST00000358212.6_Silent_p.R1555R	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1530					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)	p.R1530R(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TTAGCAACGACCTTACTTTCT	0.378																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											286.0	259.0	268.0					15																	52620094		1947	4158	6105	-	-	-	SO:0001819	synonymous_variant	0				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.4590G>A	15.37:g.52620094C>T			A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1555	ENST00000399231.3	37	c.4665	CCDS42037.1	15																																																																																			MYO5A	-	NULL	ENSG00000197535		0.378	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYO5A	HGNC	protein_coding	OTTHUMT00000268102.1	305	0.00	0	C	NM_000259		52620094	52620094	-1	no_errors	ENST00000358212	ensembl	human	known	69_37n	silent	258	24.12	82	SNP	1.000	T
MYO5A	4644	genome.wustl.edu	37	15	52620094	52620094	+	Silent	SNP	C	C	T			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr15:52620094C>T	ENST00000399231.3	-	35	4833	c.4590G>A	c.(4588-4590)agG>agA	p.R1530R	MYO5A_ENST00000553916.1_Silent_p.R1528R|MYO5A_ENST00000356338.6_Silent_p.R1503R|MYO5A_ENST00000399233.2_Silent_p.R1527R|MYO5A_ENST00000358212.6_Silent_p.R1555R	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1530					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)	p.R1530R(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TTAGCAACGACCTTACTTTCT	0.378																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											286.0	259.0	268.0					15																	52620094		1947	4158	6105	-	-	-	SO:0001819	synonymous_variant	0				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.4590G>A	15.37:g.52620094C>T			A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1555	ENST00000399231.3	37	c.4665	CCDS42037.1	15																																																																																			MYO5A	-	NULL	ENSG00000197535		0.378	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYO5A	HGNC	protein_coding	OTTHUMT00000268102.1	214	0.00	0	C	NM_000259		52620094	52620094	-1	no_errors	ENST00000358212	ensembl	human	known	69_37n	silent	173	24.45	56	SNP	1.000	T
MYO5A	4644	genome.wustl.edu	37	15	52620094	52620094	+	Silent	SNP	C	C	T			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr15:52620094C>T	ENST00000399231.3	-	35	4833	c.4590G>A	c.(4588-4590)agG>agA	p.R1530R	MYO5A_ENST00000553916.1_Silent_p.R1528R|MYO5A_ENST00000356338.6_Silent_p.R1503R|MYO5A_ENST00000399233.2_Silent_p.R1527R|MYO5A_ENST00000358212.6_Silent_p.R1555R	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1530					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)	p.R1530R(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TTAGCAACGACCTTACTTTCT	0.378																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											286.0	259.0	268.0					15																	52620094		1947	4158	6105	-	-	-	SO:0001819	synonymous_variant	0				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.4590G>A	15.37:g.52620094C>T			A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1555	ENST00000399231.3	37	c.4665	CCDS42037.1	15																																																																																			MYO5A	-	NULL	ENSG00000197535		0.378	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYO5A	HGNC	protein_coding	OTTHUMT00000268102.1	305	0.00	0	C	NM_000259		52620094	52620094	-1	no_errors	ENST00000358212	ensembl	human	known	69_37n	silent	173	24.45	56	SNP	1.000	T
PCDH7	5099	genome.wustl.edu	37	4	30725361	30725361	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr4:30725361G>A	ENST00000361762.2	+	1	3325	c.2317G>A	c.(2317-2319)Gat>Aat	p.D773N	PCDH7_ENST00000543491.1_Missense_Mutation_p.D773N	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	773	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D773N(1)|p.D726N(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						AGACAGTGATGATGGCATCAA	0.453																																						dbGAP											2	Substitution - Missense(2)	breast(2)											64.0	61.0	62.0					4																	30725361		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.2317G>A	4.37:g.30725361G>A	ENSP00000355243:p.Asp773Asn		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D773N	ENST00000361762.2	37	c.2317	CCDS33971.1	4	.	.	.	.	.	.	.	.	.	.	G	11.95	1.792631	0.31685	.	.	ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135	T;T	0.50277	0.75;0.75	5.16	4.23	0.50019	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.35364	0.0929	L	0.38649	1.16	0.36221	D	0.851967	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.002;0.002;0.004	T	0.40683	-0.9550	9	0.54805	T	0.06	.	7.2971	0.26399	0.218:0.0:0.782:0.0	.	773;726;773	F5GWJ1;O60245-3;O60245	.;.;PCDH7_HUMAN	N	773;773;726	ENSP00000355243:D773N;ENSP00000441802:D773N	ENSP00000330302:D726N	D	+	1	0	PCDH7	30334459	0.999000	0.42202	0.988000	0.46212	0.966000	0.64601	3.833000	0.55790	2.683000	0.91414	0.655000	0.94253	GAT	PCDH7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000169851		0.453	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCDH7	HGNC	protein_coding	OTTHUMT00000360366.1	41	0.00	0	G	NM_032457, NM_002589		30725361	30725361	+1	no_errors	ENST00000543491	ensembl	human	known	69_37n	missense	38	20.83	10	SNP	1.000	A
PCDH7	5099	genome.wustl.edu	37	4	30725361	30725361	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr4:30725361G>A	ENST00000361762.2	+	1	3325	c.2317G>A	c.(2317-2319)Gat>Aat	p.D773N	PCDH7_ENST00000543491.1_Missense_Mutation_p.D773N	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	773	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D773N(1)|p.D726N(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						AGACAGTGATGATGGCATCAA	0.453																																						dbGAP											2	Substitution - Missense(2)	breast(2)											64.0	61.0	62.0					4																	30725361		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.2317G>A	4.37:g.30725361G>A	ENSP00000355243:p.Asp773Asn		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D773N	ENST00000361762.2	37	c.2317	CCDS33971.1	4	.	.	.	.	.	.	.	.	.	.	G	11.95	1.792631	0.31685	.	.	ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135	T;T	0.50277	0.75;0.75	5.16	4.23	0.50019	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.35364	0.0929	L	0.38649	1.16	0.36221	D	0.851967	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.002;0.002;0.004	T	0.40683	-0.9550	9	0.54805	T	0.06	.	7.2971	0.26399	0.218:0.0:0.782:0.0	.	773;726;773	F5GWJ1;O60245-3;O60245	.;.;PCDH7_HUMAN	N	773;773;726	ENSP00000355243:D773N;ENSP00000441802:D773N	ENSP00000330302:D726N	D	+	1	0	PCDH7	30334459	0.999000	0.42202	0.988000	0.46212	0.966000	0.64601	3.833000	0.55790	2.683000	0.91414	0.655000	0.94253	GAT	PCDH7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000169851		0.453	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCDH7	HGNC	protein_coding	OTTHUMT00000360366.1	44	0.00	0	G	NM_032457, NM_002589		30725361	30725361	+1	no_errors	ENST00000543491	ensembl	human	known	69_37n	missense	38	20.83	10	SNP	1.000	A
PCDH7	5099	genome.wustl.edu	37	4	30725361	30725361	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr4:30725361G>A	ENST00000361762.2	+	1	3325	c.2317G>A	c.(2317-2319)Gat>Aat	p.D773N	PCDH7_ENST00000543491.1_Missense_Mutation_p.D773N	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	773	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D773N(1)|p.D726N(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						AGACAGTGATGATGGCATCAA	0.453																																						dbGAP											2	Substitution - Missense(2)	breast(2)											64.0	61.0	62.0					4																	30725361		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.2317G>A	4.37:g.30725361G>A	ENSP00000355243:p.Asp773Asn		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D773N	ENST00000361762.2	37	c.2317	CCDS33971.1	4	.	.	.	.	.	.	.	.	.	.	G	11.95	1.792631	0.31685	.	.	ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135	T;T	0.50277	0.75;0.75	5.16	4.23	0.50019	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.35364	0.0929	L	0.38649	1.16	0.36221	D	0.851967	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.002;0.002;0.004	T	0.40683	-0.9550	9	0.54805	T	0.06	.	7.2971	0.26399	0.218:0.0:0.782:0.0	.	773;726;773	F5GWJ1;O60245-3;O60245	.;.;PCDH7_HUMAN	N	773;773;726	ENSP00000355243:D773N;ENSP00000441802:D773N	ENSP00000330302:D726N	D	+	1	0	PCDH7	30334459	0.999000	0.42202	0.988000	0.46212	0.966000	0.64601	3.833000	0.55790	2.683000	0.91414	0.655000	0.94253	GAT	PCDH7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000169851		0.453	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCDH7	HGNC	protein_coding	OTTHUMT00000360366.1	41	0.00	0	G	NM_032457, NM_002589		30725361	30725361	+1	no_errors	ENST00000543491	ensembl	human	known	69_37n	missense	27	27.03	10	SNP	1.000	A
PCDH7	5099	genome.wustl.edu	37	4	30725361	30725361	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr4:30725361G>A	ENST00000361762.2	+	1	3325	c.2317G>A	c.(2317-2319)Gat>Aat	p.D773N	PCDH7_ENST00000543491.1_Missense_Mutation_p.D773N	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	773	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D773N(1)|p.D726N(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						AGACAGTGATGATGGCATCAA	0.453																																						dbGAP											2	Substitution - Missense(2)	breast(2)											64.0	61.0	62.0					4																	30725361		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.2317G>A	4.37:g.30725361G>A	ENSP00000355243:p.Asp773Asn		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D773N	ENST00000361762.2	37	c.2317	CCDS33971.1	4	.	.	.	.	.	.	.	.	.	.	G	11.95	1.792631	0.31685	.	.	ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135	T;T	0.50277	0.75;0.75	5.16	4.23	0.50019	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.35364	0.0929	L	0.38649	1.16	0.36221	D	0.851967	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.002;0.002;0.004	T	0.40683	-0.9550	9	0.54805	T	0.06	.	7.2971	0.26399	0.218:0.0:0.782:0.0	.	773;726;773	F5GWJ1;O60245-3;O60245	.;.;PCDH7_HUMAN	N	773;773;726	ENSP00000355243:D773N;ENSP00000441802:D773N	ENSP00000330302:D726N	D	+	1	0	PCDH7	30334459	0.999000	0.42202	0.988000	0.46212	0.966000	0.64601	3.833000	0.55790	2.683000	0.91414	0.655000	0.94253	GAT	PCDH7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000169851		0.453	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCDH7	HGNC	protein_coding	OTTHUMT00000360366.1	44	0.00	0	G	NM_032457, NM_002589		30725361	30725361	+1	no_errors	ENST00000543491	ensembl	human	known	69_37n	missense	27	27.03	10	SNP	1.000	A
PCDHGB1	56104	genome.wustl.edu	37	5	140731309	140731309	+	Silent	SNP	G	G	A			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr5:140731309G>A	ENST00000523390.1	+	1	1482	c.1482G>A	c.(1480-1482)ccG>ccA	p.P494P	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	494	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTGGAGCCGCGGGAGCTGT	0.652																																						dbGAP											0													35.0	41.0	39.0					5																	140731309		1976	4164	6140	-	-	-	SO:0001819	synonymous_variant	0			AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.1482G>A	5.37:g.140731309G>A			Q3SY75|Q9Y5C8	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P494	ENST00000523390.1	37	c.1482	CCDS54923.1	5																																																																																			PCDHGB1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000254221		0.652	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB1	HGNC	protein_coding	OTTHUMT00000374740.1	17	0.00	0	G	NM_018922		140731309	140731309	+1	no_errors	ENST00000523390	ensembl	human	known	69_37n	silent	6	45.45	5	SNP	0.000	A
PCDHGB1	56104	genome.wustl.edu	37	5	140731309	140731309	+	Silent	SNP	G	G	A			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr5:140731309G>A	ENST00000523390.1	+	1	1482	c.1482G>A	c.(1480-1482)ccG>ccA	p.P494P	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	494	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTGGAGCCGCGGGAGCTGT	0.652																																						dbGAP											0													35.0	41.0	39.0					5																	140731309		1976	4164	6140	-	-	-	SO:0001819	synonymous_variant	0			AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.1482G>A	5.37:g.140731309G>A			Q3SY75|Q9Y5C8	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P494	ENST00000523390.1	37	c.1482	CCDS54923.1	5																																																																																			PCDHGB1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000254221		0.652	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB1	HGNC	protein_coding	OTTHUMT00000374740.1	28	0.00	0	G	NM_018922		140731309	140731309	+1	no_errors	ENST00000523390	ensembl	human	known	69_37n	silent	6	45.45	5	SNP	0.000	A
PCDHGB1	56104	genome.wustl.edu	37	5	140731309	140731309	+	Silent	SNP	G	G	A			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr5:140731309G>A	ENST00000523390.1	+	1	1482	c.1482G>A	c.(1480-1482)ccG>ccA	p.P494P	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	494	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTGGAGCCGCGGGAGCTGT	0.652																																						dbGAP											0													35.0	41.0	39.0					5																	140731309		1976	4164	6140	-	-	-	SO:0001819	synonymous_variant	0			AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.1482G>A	5.37:g.140731309G>A			Q3SY75|Q9Y5C8	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P494	ENST00000523390.1	37	c.1482	CCDS54923.1	5																																																																																			PCDHGB1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000254221		0.652	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB1	HGNC	protein_coding	OTTHUMT00000374740.1	17	0.00	0	G	NM_018922		140731309	140731309	+1	no_errors	ENST00000523390	ensembl	human	known	69_37n	silent	6	40.00	4	SNP	0.000	A
PCDHGB1	56104	genome.wustl.edu	37	5	140731309	140731309	+	Silent	SNP	G	G	A			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr5:140731309G>A	ENST00000523390.1	+	1	1482	c.1482G>A	c.(1480-1482)ccG>ccA	p.P494P	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	494	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTGGAGCCGCGGGAGCTGT	0.652																																						dbGAP											0													35.0	41.0	39.0					5																	140731309		1976	4164	6140	-	-	-	SO:0001819	synonymous_variant	0			AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.1482G>A	5.37:g.140731309G>A			Q3SY75|Q9Y5C8	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P494	ENST00000523390.1	37	c.1482	CCDS54923.1	5																																																																																			PCDHGB1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000254221		0.652	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB1	HGNC	protein_coding	OTTHUMT00000374740.1	28	0.00	0	G	NM_018922		140731309	140731309	+1	no_errors	ENST00000523390	ensembl	human	known	69_37n	silent	6	40.00	4	SNP	0.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	T	rs121913279		TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr3:178952085A>T	ENST00000263967.3	+	21	3297	c.3140A>T	c.(3139-3141)cAt>cTt	p.H1047L	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>T	3.37:g.178952085A>T	ENSP00000263967:p.His1047Leu		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047L	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	4.518	0.096038	0.08681	.	.	ENSG00000121879	ENST00000263967	T	0.78126	-1.15	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	N	0.00611	-1.325	0.80722	D	1	B	0.14438	0.01	B	0.12156	0.007	T	0.58053	-0.7704	10	0.02654	T	1	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	L	1047	ENSP00000263967:H1047L	ENSP00000263967:H1047L	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	138	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	130	43.23	99	SNP	1.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	T	rs121913279		TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr3:178952085A>T	ENST00000263967.3	+	21	3297	c.3140A>T	c.(3139-3141)cAt>cTt	p.H1047L	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>T	3.37:g.178952085A>T	ENSP00000263967:p.His1047Leu		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047L	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	4.518	0.096038	0.08681	.	.	ENSG00000121879	ENST00000263967	T	0.78126	-1.15	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	N	0.00611	-1.325	0.80722	D	1	B	0.14438	0.01	B	0.12156	0.007	T	0.58053	-0.7704	10	0.02654	T	1	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	L	1047	ENSP00000263967:H1047L	ENSP00000263967:H1047L	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	143	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	130	43.23	99	SNP	1.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	T	rs121913279		TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr3:178952085A>T	ENST00000263967.3	+	21	3297	c.3140A>T	c.(3139-3141)cAt>cTt	p.H1047L	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>T	3.37:g.178952085A>T	ENSP00000263967:p.His1047Leu		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047L	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	4.518	0.096038	0.08681	.	.	ENSG00000121879	ENST00000263967	T	0.78126	-1.15	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	N	0.00611	-1.325	0.80722	D	1	B	0.14438	0.01	B	0.12156	0.007	T	0.58053	-0.7704	10	0.02654	T	1	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	L	1047	ENSP00000263967:H1047L	ENSP00000263967:H1047L	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	138	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	88	41.72	63	SNP	1.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	T	rs121913279		TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr3:178952085A>T	ENST00000263967.3	+	21	3297	c.3140A>T	c.(3139-3141)cAt>cTt	p.H1047L	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>T	3.37:g.178952085A>T	ENSP00000263967:p.His1047Leu		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047L	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	4.518	0.096038	0.08681	.	.	ENSG00000121879	ENST00000263967	T	0.78126	-1.15	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	N	0.00611	-1.325	0.80722	D	1	B	0.14438	0.01	B	0.12156	0.007	T	0.58053	-0.7704	10	0.02654	T	1	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	L	1047	ENSP00000263967:H1047L	ENSP00000263967:H1047L	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	143	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	88	41.72	63	SNP	1.000	T
PMEL	6490	genome.wustl.edu	37	12	56349111	56349111	+	Silent	SNP	G	G	A			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr12:56349111G>A	ENST00000548747.1	-	10	2459	c.1797C>T	c.(1795-1797)atC>atT	p.I599I	PMEL_ENST00000550464.1_Silent_p.I513I|PMEL_ENST00000360714.4_Silent_p.I606I|PMEL_ENST00000536427.1_Silent_p.I564I|PMEL_ENST00000548493.1_Silent_p.I599I|PMEL_ENST00000552882.1_Silent_p.I599I|PMEL_ENST00000550447.1_Silent_p.I228I|PMEL_ENST00000449260.2_Silent_p.I606I|PMEL_ENST00000539511.1_Silent_p.I513I|PMEL_ENST00000548689.1_5'Flank			P40967	PMEL_HUMAN	premelanosome protein	599					melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)		p.I599I(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGATGCCCACGATCAGCGGAA	0.532																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											215.0	187.0	197.0					12																	56349111		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"""silver (mouse homolog) like"", ""silver homolog (mouse)"""	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.1797C>T	12.37:g.56349111G>A			B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom	p.R452	ENST00000548747.1	37	c.1354	CCDS8897.1	12																																																																																			PMEL	-	NULL	ENSG00000185664		0.532	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMEL	HGNC	protein_coding	OTTHUMT00000409626.1	116	0.00	0	G	NM_006928		56349111	56349111	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000549404	ensembl	human	novel	69_37n	missense	45	23.73	14	SNP	0.192	A
PMEL	6490	genome.wustl.edu	37	12	56349111	56349111	+	Silent	SNP	G	G	A			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr12:56349111G>A	ENST00000548747.1	-	10	2459	c.1797C>T	c.(1795-1797)atC>atT	p.I599I	PMEL_ENST00000550464.1_Silent_p.I513I|PMEL_ENST00000360714.4_Silent_p.I606I|PMEL_ENST00000536427.1_Silent_p.I564I|PMEL_ENST00000548493.1_Silent_p.I599I|PMEL_ENST00000552882.1_Silent_p.I599I|PMEL_ENST00000550447.1_Silent_p.I228I|PMEL_ENST00000449260.2_Silent_p.I606I|PMEL_ENST00000539511.1_Silent_p.I513I|PMEL_ENST00000548689.1_5'Flank			P40967	PMEL_HUMAN	premelanosome protein	599					melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)		p.I599I(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGATGCCCACGATCAGCGGAA	0.532																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											215.0	187.0	197.0					12																	56349111		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"""silver (mouse homolog) like"", ""silver homolog (mouse)"""	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.1797C>T	12.37:g.56349111G>A			B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom	p.R452	ENST00000548747.1	37	c.1354	CCDS8897.1	12																																																																																			PMEL	-	NULL	ENSG00000185664		0.532	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMEL	HGNC	protein_coding	OTTHUMT00000409626.1	129	0.00	0	G	NM_006928		56349111	56349111	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000549404	ensembl	human	novel	69_37n	missense	45	23.73	14	SNP	0.192	A
PMEL	6490	genome.wustl.edu	37	12	56349111	56349111	+	Silent	SNP	G	G	A			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr12:56349111G>A	ENST00000548747.1	-	10	2459	c.1797C>T	c.(1795-1797)atC>atT	p.I599I	PMEL_ENST00000550464.1_Silent_p.I513I|PMEL_ENST00000360714.4_Silent_p.I606I|PMEL_ENST00000536427.1_Silent_p.I564I|PMEL_ENST00000548493.1_Silent_p.I599I|PMEL_ENST00000552882.1_Silent_p.I599I|PMEL_ENST00000550447.1_Silent_p.I228I|PMEL_ENST00000449260.2_Silent_p.I606I|PMEL_ENST00000539511.1_Silent_p.I513I|PMEL_ENST00000548689.1_5'Flank			P40967	PMEL_HUMAN	premelanosome protein	599					melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)		p.I599I(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGATGCCCACGATCAGCGGAA	0.532																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											215.0	187.0	197.0					12																	56349111		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"""silver (mouse homolog) like"", ""silver homolog (mouse)"""	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.1797C>T	12.37:g.56349111G>A			B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom	p.R452	ENST00000548747.1	37	c.1354	CCDS8897.1	12																																																																																			PMEL	-	NULL	ENSG00000185664		0.532	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMEL	HGNC	protein_coding	OTTHUMT00000409626.1	116	0.00	0	G	NM_006928		56349111	56349111	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000549404	ensembl	human	novel	69_37n	missense	32	20.00	8	SNP	0.192	A
PMEL	6490	genome.wustl.edu	37	12	56349111	56349111	+	Silent	SNP	G	G	A			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr12:56349111G>A	ENST00000548747.1	-	10	2459	c.1797C>T	c.(1795-1797)atC>atT	p.I599I	PMEL_ENST00000550464.1_Silent_p.I513I|PMEL_ENST00000360714.4_Silent_p.I606I|PMEL_ENST00000536427.1_Silent_p.I564I|PMEL_ENST00000548493.1_Silent_p.I599I|PMEL_ENST00000552882.1_Silent_p.I599I|PMEL_ENST00000550447.1_Silent_p.I228I|PMEL_ENST00000449260.2_Silent_p.I606I|PMEL_ENST00000539511.1_Silent_p.I513I|PMEL_ENST00000548689.1_5'Flank			P40967	PMEL_HUMAN	premelanosome protein	599					melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)		p.I599I(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGATGCCCACGATCAGCGGAA	0.532																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											215.0	187.0	197.0					12																	56349111		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"""silver (mouse homolog) like"", ""silver homolog (mouse)"""	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.1797C>T	12.37:g.56349111G>A			B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom	p.R452	ENST00000548747.1	37	c.1354	CCDS8897.1	12																																																																																			PMEL	-	NULL	ENSG00000185664		0.532	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMEL	HGNC	protein_coding	OTTHUMT00000409626.1	129	0.00	0	G	NM_006928		56349111	56349111	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000549404	ensembl	human	novel	69_37n	missense	32	20.00	8	SNP	0.192	A
SFPQ	6421	genome.wustl.edu	37	1	35656463	35656463	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr1:35656463T>C	ENST00000357214.5	-	3	1249	c.1151A>G	c.(1150-1152)aAt>aGt	p.N384S		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	384	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H3 deacetylation (GO:0070932)|mRNA processing (GO:0006397)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|histone deacetylase binding (GO:0042826)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.N384S(1)	SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CAACAGTTCATTGGAAACATA	0.443			T	TFE3	papillary renal cell																																	dbGAP		Dom	yes		1	1p34.3	6421	splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated)		E	1	Substitution - Missense(1)	breast(1)											99.0	94.0	95.0					1																	35656463		2203	4300	6503	-	-	-	SO:0001583	missense	0			X70944	CCDS388.1	1p34.3	2014-06-13	2010-05-04		ENSG00000116560	ENSG00000116560		"""RNA binding motif (RRM) containing"""	10774	protein-coding gene	gene with protein product	"""polypyrimidine tract binding protein associated"", ""protein phosphatase 1, regulatory subunit 140"""	605199	"""splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated)"""			8449401	Standard	NM_005066		Approved	PSF, PPP1R140	uc001bys.3	P23246	OTTHUMG00000004157	ENST00000357214.5:c.1151A>G	1.37:g.35656463T>C	ENSP00000349748:p.Asn384Ser		P30808|Q5SZ71	Missense_Mutation	SNP	pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom	p.N384S	ENST00000357214.5	37	c.1151	CCDS388.1	1	.	.	.	.	.	.	.	.	.	.	T	33	5.221316	0.95139	.	.	ENSG00000116560	ENST00000357214	T	0.15487	2.42	5.67	5.67	0.87782	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.30479	0.0766	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.06320	-1.0833	10	0.87932	D	0	-11.5527	15.9171	0.79527	0.0:0.0:0.0:1.0	.	384	P23246	SFPQ_HUMAN	S	384	ENSP00000349748:N384S	ENSP00000349748:N384S	N	-	2	0	SFPQ	35429050	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.991000	0.88244	2.152000	0.67230	0.455000	0.32223	AAT	SFPQ	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000116560		0.443	SFPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFPQ	HGNC	protein_coding	OTTHUMT00000011984.4	139	0.00	0	T	NM_005066		35656463	35656463	-1	no_errors	ENST00000357214	ensembl	human	known	69_37n	missense	120	28.57	48	SNP	1.000	C
SFPQ	6421	genome.wustl.edu	37	1	35656463	35656463	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr1:35656463T>C	ENST00000357214.5	-	3	1249	c.1151A>G	c.(1150-1152)aAt>aGt	p.N384S		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	384	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H3 deacetylation (GO:0070932)|mRNA processing (GO:0006397)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|histone deacetylase binding (GO:0042826)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.N384S(1)	SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CAACAGTTCATTGGAAACATA	0.443			T	TFE3	papillary renal cell																																	dbGAP		Dom	yes		1	1p34.3	6421	splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated)		E	1	Substitution - Missense(1)	breast(1)											99.0	94.0	95.0					1																	35656463		2203	4300	6503	-	-	-	SO:0001583	missense	0			X70944	CCDS388.1	1p34.3	2014-06-13	2010-05-04		ENSG00000116560	ENSG00000116560		"""RNA binding motif (RRM) containing"""	10774	protein-coding gene	gene with protein product	"""polypyrimidine tract binding protein associated"", ""protein phosphatase 1, regulatory subunit 140"""	605199	"""splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated)"""			8449401	Standard	NM_005066		Approved	PSF, PPP1R140	uc001bys.3	P23246	OTTHUMG00000004157	ENST00000357214.5:c.1151A>G	1.37:g.35656463T>C	ENSP00000349748:p.Asn384Ser		P30808|Q5SZ71	Missense_Mutation	SNP	pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom	p.N384S	ENST00000357214.5	37	c.1151	CCDS388.1	1	.	.	.	.	.	.	.	.	.	.	T	33	5.221316	0.95139	.	.	ENSG00000116560	ENST00000357214	T	0.15487	2.42	5.67	5.67	0.87782	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.30479	0.0766	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.06320	-1.0833	10	0.87932	D	0	-11.5527	15.9171	0.79527	0.0:0.0:0.0:1.0	.	384	P23246	SFPQ_HUMAN	S	384	ENSP00000349748:N384S	ENSP00000349748:N384S	N	-	2	0	SFPQ	35429050	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.991000	0.88244	2.152000	0.67230	0.455000	0.32223	AAT	SFPQ	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000116560		0.443	SFPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFPQ	HGNC	protein_coding	OTTHUMT00000011984.4	199	0.00	0	T	NM_005066		35656463	35656463	-1	no_errors	ENST00000357214	ensembl	human	known	69_37n	missense	120	28.57	48	SNP	1.000	C
SFPQ	6421	genome.wustl.edu	37	1	35656463	35656463	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr1:35656463T>C	ENST00000357214.5	-	3	1249	c.1151A>G	c.(1150-1152)aAt>aGt	p.N384S		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	384	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H3 deacetylation (GO:0070932)|mRNA processing (GO:0006397)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|histone deacetylase binding (GO:0042826)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.N384S(1)	SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CAACAGTTCATTGGAAACATA	0.443			T	TFE3	papillary renal cell																																	dbGAP		Dom	yes		1	1p34.3	6421	splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated)		E	1	Substitution - Missense(1)	breast(1)											99.0	94.0	95.0					1																	35656463		2203	4300	6503	-	-	-	SO:0001583	missense	0			X70944	CCDS388.1	1p34.3	2014-06-13	2010-05-04		ENSG00000116560	ENSG00000116560		"""RNA binding motif (RRM) containing"""	10774	protein-coding gene	gene with protein product	"""polypyrimidine tract binding protein associated"", ""protein phosphatase 1, regulatory subunit 140"""	605199	"""splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated)"""			8449401	Standard	NM_005066		Approved	PSF, PPP1R140	uc001bys.3	P23246	OTTHUMG00000004157	ENST00000357214.5:c.1151A>G	1.37:g.35656463T>C	ENSP00000349748:p.Asn384Ser		P30808|Q5SZ71	Missense_Mutation	SNP	pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom	p.N384S	ENST00000357214.5	37	c.1151	CCDS388.1	1	.	.	.	.	.	.	.	.	.	.	T	33	5.221316	0.95139	.	.	ENSG00000116560	ENST00000357214	T	0.15487	2.42	5.67	5.67	0.87782	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.30479	0.0766	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.06320	-1.0833	10	0.87932	D	0	-11.5527	15.9171	0.79527	0.0:0.0:0.0:1.0	.	384	P23246	SFPQ_HUMAN	S	384	ENSP00000349748:N384S	ENSP00000349748:N384S	N	-	2	0	SFPQ	35429050	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.991000	0.88244	2.152000	0.67230	0.455000	0.32223	AAT	SFPQ	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000116560		0.443	SFPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFPQ	HGNC	protein_coding	OTTHUMT00000011984.4	139	0.00	0	T	NM_005066		35656463	35656463	-1	no_errors	ENST00000357214	ensembl	human	known	69_37n	missense	84	26.32	30	SNP	1.000	C
SFPQ	6421	genome.wustl.edu	37	1	35656463	35656463	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr1:35656463T>C	ENST00000357214.5	-	3	1249	c.1151A>G	c.(1150-1152)aAt>aGt	p.N384S		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	384	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H3 deacetylation (GO:0070932)|mRNA processing (GO:0006397)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|histone deacetylase binding (GO:0042826)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.N384S(1)	SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CAACAGTTCATTGGAAACATA	0.443			T	TFE3	papillary renal cell																																	dbGAP		Dom	yes		1	1p34.3	6421	splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated)		E	1	Substitution - Missense(1)	breast(1)											99.0	94.0	95.0					1																	35656463		2203	4300	6503	-	-	-	SO:0001583	missense	0			X70944	CCDS388.1	1p34.3	2014-06-13	2010-05-04		ENSG00000116560	ENSG00000116560		"""RNA binding motif (RRM) containing"""	10774	protein-coding gene	gene with protein product	"""polypyrimidine tract binding protein associated"", ""protein phosphatase 1, regulatory subunit 140"""	605199	"""splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated)"""			8449401	Standard	NM_005066		Approved	PSF, PPP1R140	uc001bys.3	P23246	OTTHUMG00000004157	ENST00000357214.5:c.1151A>G	1.37:g.35656463T>C	ENSP00000349748:p.Asn384Ser		P30808|Q5SZ71	Missense_Mutation	SNP	pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom	p.N384S	ENST00000357214.5	37	c.1151	CCDS388.1	1	.	.	.	.	.	.	.	.	.	.	T	33	5.221316	0.95139	.	.	ENSG00000116560	ENST00000357214	T	0.15487	2.42	5.67	5.67	0.87782	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.30479	0.0766	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.06320	-1.0833	10	0.87932	D	0	-11.5527	15.9171	0.79527	0.0:0.0:0.0:1.0	.	384	P23246	SFPQ_HUMAN	S	384	ENSP00000349748:N384S	ENSP00000349748:N384S	N	-	2	0	SFPQ	35429050	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.991000	0.88244	2.152000	0.67230	0.455000	0.32223	AAT	SFPQ	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000116560		0.443	SFPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFPQ	HGNC	protein_coding	OTTHUMT00000011984.4	199	0.00	0	T	NM_005066		35656463	35656463	-1	no_errors	ENST00000357214	ensembl	human	known	69_37n	missense	84	26.32	30	SNP	1.000	C
SMYD1	150572	genome.wustl.edu	37	2	88390554	88390554	+	Silent	SNP	C	C	T			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr2:88390554C>T	ENST00000419482.2	+	4	637	c.552C>T	c.(550-552)ctC>ctT	p.L184L	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Silent_p.L184L	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	184	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.L184L(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GTTTTACTCTCAGTGATCAGA	0.488																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											168.0	167.0	167.0					2																	88390554		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.552C>T	2.37:g.88390554C>T			A0AV30|A6NE13	Silent	SNP	pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND	p.L184	ENST00000419482.2	37	c.552	CCDS33240.1	2																																																																																			SMYD1	-	pfam_SET_dom,smart_SET_dom	ENSG00000115593		0.488	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD1	HGNC	protein_coding	OTTHUMT00000338229.2	186	0.53	1	C	XM_097915		88390554	88390554	+1	no_errors	ENST00000419482	ensembl	human	known	69_37n	silent	137	31.84	64	SNP	1.000	T
SMYD1	150572	genome.wustl.edu	37	2	88390554	88390554	+	Silent	SNP	C	C	T			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr2:88390554C>T	ENST00000419482.2	+	4	637	c.552C>T	c.(550-552)ctC>ctT	p.L184L	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Silent_p.L184L	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	184	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.L184L(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GTTTTACTCTCAGTGATCAGA	0.488																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											168.0	167.0	167.0					2																	88390554		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.552C>T	2.37:g.88390554C>T			A0AV30|A6NE13	Silent	SNP	pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND	p.L184	ENST00000419482.2	37	c.552	CCDS33240.1	2																																																																																			SMYD1	-	pfam_SET_dom,smart_SET_dom	ENSG00000115593		0.488	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD1	HGNC	protein_coding	OTTHUMT00000338229.2	221	0.00	0	C	XM_097915		88390554	88390554	+1	no_errors	ENST00000419482	ensembl	human	known	69_37n	silent	137	31.84	64	SNP	1.000	T
SMYD1	150572	genome.wustl.edu	37	2	88390554	88390554	+	Silent	SNP	C	C	T			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr2:88390554C>T	ENST00000419482.2	+	4	637	c.552C>T	c.(550-552)ctC>ctT	p.L184L	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Silent_p.L184L	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	184	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.L184L(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GTTTTACTCTCAGTGATCAGA	0.488																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											168.0	167.0	167.0					2																	88390554		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.552C>T	2.37:g.88390554C>T			A0AV30|A6NE13	Silent	SNP	pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND	p.L184	ENST00000419482.2	37	c.552	CCDS33240.1	2																																																																																			SMYD1	-	pfam_SET_dom,smart_SET_dom	ENSG00000115593		0.488	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD1	HGNC	protein_coding	OTTHUMT00000338229.2	186	0.53	1	C	XM_097915		88390554	88390554	+1	no_errors	ENST00000419482	ensembl	human	known	69_37n	silent	102	31.54	47	SNP	1.000	T
SMYD1	150572	genome.wustl.edu	37	2	88390554	88390554	+	Silent	SNP	C	C	T			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr2:88390554C>T	ENST00000419482.2	+	4	637	c.552C>T	c.(550-552)ctC>ctT	p.L184L	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Silent_p.L184L	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	184	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.L184L(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GTTTTACTCTCAGTGATCAGA	0.488																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											168.0	167.0	167.0					2																	88390554		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.552C>T	2.37:g.88390554C>T			A0AV30|A6NE13	Silent	SNP	pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND	p.L184	ENST00000419482.2	37	c.552	CCDS33240.1	2																																																																																			SMYD1	-	pfam_SET_dom,smart_SET_dom	ENSG00000115593		0.488	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD1	HGNC	protein_coding	OTTHUMT00000338229.2	221	0.00	0	C	XM_097915		88390554	88390554	+1	no_errors	ENST00000419482	ensembl	human	known	69_37n	silent	102	31.54	47	SNP	1.000	T
SRRM4	84530	genome.wustl.edu	37	12	119583290	119583290	+	Silent	SNP	C	C	T			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr12:119583290C>T	ENST00000267260.4	+	9	1264	c.876C>T	c.(874-876)tcC>tcT	p.S292S		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	292	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)	p.S292S(2)|p.S389S(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						ATGACACGTCCTCGCCACCCT	0.637																																						dbGAP											3	Substitution - coding silent(3)	breast(3)											31.0	36.0	34.0					12																	119583290		2001	4157	6158	-	-	-	SO:0001819	synonymous_variant	0			AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.876C>T	12.37:g.119583290C>T			A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Silent	SNP	NULL	p.S292	ENST00000267260.4	37	c.876	CCDS44994.1	12																																																																																			SRRM4	-	NULL	ENSG00000139767		0.637	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM4	HGNC	protein_coding	OTTHUMT00000401640.2	50	0.00	0	C	NM_194286		119583290	119583290	+1	no_errors	ENST00000267260	ensembl	human	known	69_37n	silent	18	37.93	11	SNP	1.000	T
SRRM4	84530	genome.wustl.edu	37	12	119583290	119583290	+	Silent	SNP	C	C	T			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr12:119583290C>T	ENST00000267260.4	+	9	1264	c.876C>T	c.(874-876)tcC>tcT	p.S292S		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	292	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)	p.S292S(2)|p.S389S(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						ATGACACGTCCTCGCCACCCT	0.637																																						dbGAP											3	Substitution - coding silent(3)	breast(3)											31.0	36.0	34.0					12																	119583290		2001	4157	6158	-	-	-	SO:0001819	synonymous_variant	0			AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.876C>T	12.37:g.119583290C>T			A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Silent	SNP	NULL	p.S292	ENST00000267260.4	37	c.876	CCDS44994.1	12																																																																																			SRRM4	-	NULL	ENSG00000139767		0.637	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM4	HGNC	protein_coding	OTTHUMT00000401640.2	52	0.00	0	C	NM_194286		119583290	119583290	+1	no_errors	ENST00000267260	ensembl	human	known	69_37n	silent	18	37.93	11	SNP	1.000	T
SRRM4	84530	genome.wustl.edu	37	12	119583290	119583290	+	Silent	SNP	C	C	T			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr12:119583290C>T	ENST00000267260.4	+	9	1264	c.876C>T	c.(874-876)tcC>tcT	p.S292S		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	292	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)	p.S292S(2)|p.S389S(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						ATGACACGTCCTCGCCACCCT	0.637																																						dbGAP											3	Substitution - coding silent(3)	breast(3)											31.0	36.0	34.0					12																	119583290		2001	4157	6158	-	-	-	SO:0001819	synonymous_variant	0			AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.876C>T	12.37:g.119583290C>T			A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Silent	SNP	NULL	p.S292	ENST00000267260.4	37	c.876	CCDS44994.1	12																																																																																			SRRM4	-	NULL	ENSG00000139767		0.637	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM4	HGNC	protein_coding	OTTHUMT00000401640.2	50	0.00	0	C	NM_194286		119583290	119583290	+1	no_errors	ENST00000267260	ensembl	human	known	69_37n	silent	13	40.91	9	SNP	1.000	T
SRRM4	84530	genome.wustl.edu	37	12	119583290	119583290	+	Silent	SNP	C	C	T			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr12:119583290C>T	ENST00000267260.4	+	9	1264	c.876C>T	c.(874-876)tcC>tcT	p.S292S		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	292	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)	p.S292S(2)|p.S389S(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						ATGACACGTCCTCGCCACCCT	0.637																																						dbGAP											3	Substitution - coding silent(3)	breast(3)											31.0	36.0	34.0					12																	119583290		2001	4157	6158	-	-	-	SO:0001819	synonymous_variant	0			AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.876C>T	12.37:g.119583290C>T			A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Silent	SNP	NULL	p.S292	ENST00000267260.4	37	c.876	CCDS44994.1	12																																																																																			SRRM4	-	NULL	ENSG00000139767		0.637	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM4	HGNC	protein_coding	OTTHUMT00000401640.2	52	0.00	0	C	NM_194286		119583290	119583290	+1	no_errors	ENST00000267260	ensembl	human	known	69_37n	silent	13	40.91	9	SNP	1.000	T
STAG1	10274	genome.wustl.edu	37	3	136136813	136136813	+	Splice_Site	SNP	C	C	G			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr3:136136813C>G	ENST00000383202.2	-	21	2366	c.2110G>C	c.(2110-2112)Gca>Cca	p.A704P	STAG1_ENST00000236698.5_Splice_Site_p.A704P|STAG1_ENST00000434713.2_Splice_Site_p.A478P|STAG1_ENST00000536929.1_Splice_Site_p.A288P	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	704					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.A704P(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						AGATCATGTGCACTGAAATAA	0.343																																						dbGAP											1	Substitution - Missense(1)	breast(1)											108.0	98.0	102.0					3																	136136813		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.2109-1G>C	3.37:g.136136813C>G			O00539|Q6P275	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.A704P	ENST00000383202.2	37	c.2110	CCDS3090.1	3	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705900	0.89018	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	T;T;T;T	0.35048	1.76;1.78;1.83;1.33	4.83	4.83	0.62350	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63570	0.2522	M	0.84846	2.72	0.80722	D	1	P;D;P	0.67145	0.91;0.996;0.91	P;D;P	0.65874	0.786;0.939;0.707	T	0.68830	-0.5305	10	0.46703	T	0.11	.	17.9405	0.89025	0.0:1.0:0.0:0.0	.	721;704;704	Q4LE48;Q6P275;Q8WVM7	.;.;STAG1_HUMAN	P	704;704;478;288	ENSP00000372689:A704P;ENSP00000236698:A704P;ENSP00000404396:A478P;ENSP00000445787:A288P	ENSP00000236698:A704P	A	-	1	0	STAG1	137619503	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	7.732000	0.84908	2.204000	0.70986	0.555000	0.69702	GCA	STAG1	-	superfamily_ARM-type_fold	ENSG00000118007		0.343	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAG1	HGNC	protein_coding	OTTHUMT00000357366.1	199	0.00	0	C	NM_005862	Missense_Mutation	136136813	136136813	-1	no_errors	ENST00000383202	ensembl	human	known	69_37n	missense	228	24.25	73	SNP	1.000	G
STAG1	10274	genome.wustl.edu	37	3	136136813	136136813	+	Splice_Site	SNP	C	C	G			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr3:136136813C>G	ENST00000383202.2	-	21	2366	c.2110G>C	c.(2110-2112)Gca>Cca	p.A704P	STAG1_ENST00000236698.5_Splice_Site_p.A704P|STAG1_ENST00000434713.2_Splice_Site_p.A478P|STAG1_ENST00000536929.1_Splice_Site_p.A288P	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	704					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.A704P(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						AGATCATGTGCACTGAAATAA	0.343																																						dbGAP											1	Substitution - Missense(1)	breast(1)											108.0	98.0	102.0					3																	136136813		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.2109-1G>C	3.37:g.136136813C>G			O00539|Q6P275	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.A704P	ENST00000383202.2	37	c.2110	CCDS3090.1	3	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705900	0.89018	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	T;T;T;T	0.35048	1.76;1.78;1.83;1.33	4.83	4.83	0.62350	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63570	0.2522	M	0.84846	2.72	0.80722	D	1	P;D;P	0.67145	0.91;0.996;0.91	P;D;P	0.65874	0.786;0.939;0.707	T	0.68830	-0.5305	10	0.46703	T	0.11	.	17.9405	0.89025	0.0:1.0:0.0:0.0	.	721;704;704	Q4LE48;Q6P275;Q8WVM7	.;.;STAG1_HUMAN	P	704;704;478;288	ENSP00000372689:A704P;ENSP00000236698:A704P;ENSP00000404396:A478P;ENSP00000445787:A288P	ENSP00000236698:A704P	A	-	1	0	STAG1	137619503	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	7.732000	0.84908	2.204000	0.70986	0.555000	0.69702	GCA	STAG1	-	superfamily_ARM-type_fold	ENSG00000118007		0.343	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAG1	HGNC	protein_coding	OTTHUMT00000357366.1	221	0.00	0	C	NM_005862	Missense_Mutation	136136813	136136813	-1	no_errors	ENST00000383202	ensembl	human	known	69_37n	missense	228	24.25	73	SNP	1.000	G
STAG1	10274	genome.wustl.edu	37	3	136136813	136136813	+	Splice_Site	SNP	C	C	G			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr3:136136813C>G	ENST00000383202.2	-	21	2366	c.2110G>C	c.(2110-2112)Gca>Cca	p.A704P	STAG1_ENST00000236698.5_Splice_Site_p.A704P|STAG1_ENST00000434713.2_Splice_Site_p.A478P|STAG1_ENST00000536929.1_Splice_Site_p.A288P	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	704					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.A704P(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						AGATCATGTGCACTGAAATAA	0.343																																						dbGAP											1	Substitution - Missense(1)	breast(1)											108.0	98.0	102.0					3																	136136813		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.2109-1G>C	3.37:g.136136813C>G			O00539|Q6P275	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.A704P	ENST00000383202.2	37	c.2110	CCDS3090.1	3	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705900	0.89018	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	T;T;T;T	0.35048	1.76;1.78;1.83;1.33	4.83	4.83	0.62350	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63570	0.2522	M	0.84846	2.72	0.80722	D	1	P;D;P	0.67145	0.91;0.996;0.91	P;D;P	0.65874	0.786;0.939;0.707	T	0.68830	-0.5305	10	0.46703	T	0.11	.	17.9405	0.89025	0.0:1.0:0.0:0.0	.	721;704;704	Q4LE48;Q6P275;Q8WVM7	.;.;STAG1_HUMAN	P	704;704;478;288	ENSP00000372689:A704P;ENSP00000236698:A704P;ENSP00000404396:A478P;ENSP00000445787:A288P	ENSP00000236698:A704P	A	-	1	0	STAG1	137619503	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	7.732000	0.84908	2.204000	0.70986	0.555000	0.69702	GCA	STAG1	-	superfamily_ARM-type_fold	ENSG00000118007		0.343	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAG1	HGNC	protein_coding	OTTHUMT00000357366.1	199	0.00	0	C	NM_005862	Missense_Mutation	136136813	136136813	-1	no_errors	ENST00000383202	ensembl	human	known	69_37n	missense	159	25.00	53	SNP	1.000	G
STAG1	10274	genome.wustl.edu	37	3	136136813	136136813	+	Splice_Site	SNP	C	C	G			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr3:136136813C>G	ENST00000383202.2	-	21	2366	c.2110G>C	c.(2110-2112)Gca>Cca	p.A704P	STAG1_ENST00000236698.5_Splice_Site_p.A704P|STAG1_ENST00000434713.2_Splice_Site_p.A478P|STAG1_ENST00000536929.1_Splice_Site_p.A288P	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	704					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.A704P(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						AGATCATGTGCACTGAAATAA	0.343																																						dbGAP											1	Substitution - Missense(1)	breast(1)											108.0	98.0	102.0					3																	136136813		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.2109-1G>C	3.37:g.136136813C>G			O00539|Q6P275	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.A704P	ENST00000383202.2	37	c.2110	CCDS3090.1	3	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705900	0.89018	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	T;T;T;T	0.35048	1.76;1.78;1.83;1.33	4.83	4.83	0.62350	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63570	0.2522	M	0.84846	2.72	0.80722	D	1	P;D;P	0.67145	0.91;0.996;0.91	P;D;P	0.65874	0.786;0.939;0.707	T	0.68830	-0.5305	10	0.46703	T	0.11	.	17.9405	0.89025	0.0:1.0:0.0:0.0	.	721;704;704	Q4LE48;Q6P275;Q8WVM7	.;.;STAG1_HUMAN	P	704;704;478;288	ENSP00000372689:A704P;ENSP00000236698:A704P;ENSP00000404396:A478P;ENSP00000445787:A288P	ENSP00000236698:A704P	A	-	1	0	STAG1	137619503	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	7.732000	0.84908	2.204000	0.70986	0.555000	0.69702	GCA	STAG1	-	superfamily_ARM-type_fold	ENSG00000118007		0.343	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAG1	HGNC	protein_coding	OTTHUMT00000357366.1	221	0.00	0	C	NM_005862	Missense_Mutation	136136813	136136813	-1	no_errors	ENST00000383202	ensembl	human	known	69_37n	missense	159	25.00	53	SNP	1.000	G
TDRD6	221400	genome.wustl.edu	37	6	46657115	46657115	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr6:46657115A>G	ENST00000316081.6	+	1	1250	c.1250A>G	c.(1249-1251)cAt>cGt	p.H417R	TDRD6_ENST00000544460.1_Missense_Mutation_p.H417R|RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	417					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)		p.H417R(1)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TCCTTTGAGCATGTGTATTAT	0.488																																						dbGAP											1	Substitution - Missense(1)	breast(1)											98.0	98.0	98.0					6																	46657115		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.1250A>G	6.37:g.46657115A>G	ENSP00000346065:p.His417Arg		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.H417R	ENST00000316081.6	37	c.1250	CCDS34470.1	6	.	.	.	.	.	.	.	.	.	.	A	13.94	2.387180	0.42308	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.15139	2.45;2.45	5.36	5.36	0.76844	.	0.107182	0.64402	D	0.000005	T	0.22475	0.0542	L	0.56769	1.78	0.33688	D	0.612943	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.981	T	0.05649	-1.0872	10	0.12766	T	0.61	-21.4217	15.2009	0.73136	1.0:0.0:0.0:0.0	.	417;417	F5H5M3;O60522	.;TDRD6_HUMAN	R	417	ENSP00000443299:H417R;ENSP00000346065:H417R	ENSP00000346065:H417R	H	+	2	0	TDRD6	46765074	0.991000	0.36638	0.995000	0.50966	0.900000	0.52787	2.703000	0.47110	2.246000	0.74042	0.533000	0.62120	CAT	TDRD6	-	NULL	ENSG00000180113		0.488	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	HGNC	protein_coding	OTTHUMT00000040800.1	48	0.00	0	A	XM_166443		46657115	46657115	+1	no_errors	ENST00000316081	ensembl	human	known	69_37n	missense	34	23.91	11	SNP	0.982	G
TDRD6	221400	genome.wustl.edu	37	6	46657115	46657115	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr6:46657115A>G	ENST00000316081.6	+	1	1250	c.1250A>G	c.(1249-1251)cAt>cGt	p.H417R	TDRD6_ENST00000544460.1_Missense_Mutation_p.H417R|RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	417					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)		p.H417R(1)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TCCTTTGAGCATGTGTATTAT	0.488																																						dbGAP											1	Substitution - Missense(1)	breast(1)											98.0	98.0	98.0					6																	46657115		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.1250A>G	6.37:g.46657115A>G	ENSP00000346065:p.His417Arg		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.H417R	ENST00000316081.6	37	c.1250	CCDS34470.1	6	.	.	.	.	.	.	.	.	.	.	A	13.94	2.387180	0.42308	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.15139	2.45;2.45	5.36	5.36	0.76844	.	0.107182	0.64402	D	0.000005	T	0.22475	0.0542	L	0.56769	1.78	0.33688	D	0.612943	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.981	T	0.05649	-1.0872	10	0.12766	T	0.61	-21.4217	15.2009	0.73136	1.0:0.0:0.0:0.0	.	417;417	F5H5M3;O60522	.;TDRD6_HUMAN	R	417	ENSP00000443299:H417R;ENSP00000346065:H417R	ENSP00000346065:H417R	H	+	2	0	TDRD6	46765074	0.991000	0.36638	0.995000	0.50966	0.900000	0.52787	2.703000	0.47110	2.246000	0.74042	0.533000	0.62120	CAT	TDRD6	-	NULL	ENSG00000180113		0.488	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	HGNC	protein_coding	OTTHUMT00000040800.1	68	0.00	0	A	XM_166443		46657115	46657115	+1	no_errors	ENST00000316081	ensembl	human	known	69_37n	missense	34	23.91	11	SNP	0.982	G
TDRD6	221400	genome.wustl.edu	37	6	46657115	46657115	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr6:46657115A>G	ENST00000316081.6	+	1	1250	c.1250A>G	c.(1249-1251)cAt>cGt	p.H417R	TDRD6_ENST00000544460.1_Missense_Mutation_p.H417R|RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	417					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)		p.H417R(1)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TCCTTTGAGCATGTGTATTAT	0.488																																						dbGAP											1	Substitution - Missense(1)	breast(1)											98.0	98.0	98.0					6																	46657115		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.1250A>G	6.37:g.46657115A>G	ENSP00000346065:p.His417Arg		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.H417R	ENST00000316081.6	37	c.1250	CCDS34470.1	6	.	.	.	.	.	.	.	.	.	.	A	13.94	2.387180	0.42308	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.15139	2.45;2.45	5.36	5.36	0.76844	.	0.107182	0.64402	D	0.000005	T	0.22475	0.0542	L	0.56769	1.78	0.33688	D	0.612943	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.981	T	0.05649	-1.0872	10	0.12766	T	0.61	-21.4217	15.2009	0.73136	1.0:0.0:0.0:0.0	.	417;417	F5H5M3;O60522	.;TDRD6_HUMAN	R	417	ENSP00000443299:H417R;ENSP00000346065:H417R	ENSP00000346065:H417R	H	+	2	0	TDRD6	46765074	0.991000	0.36638	0.995000	0.50966	0.900000	0.52787	2.703000	0.47110	2.246000	0.74042	0.533000	0.62120	CAT	TDRD6	-	NULL	ENSG00000180113		0.488	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	HGNC	protein_coding	OTTHUMT00000040800.1	48	0.00	0	A	XM_166443		46657115	46657115	+1	no_errors	ENST00000316081	ensembl	human	known	69_37n	missense	20	25.93	7	SNP	0.982	G
TDRD6	221400	genome.wustl.edu	37	6	46657115	46657115	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr6:46657115A>G	ENST00000316081.6	+	1	1250	c.1250A>G	c.(1249-1251)cAt>cGt	p.H417R	TDRD6_ENST00000544460.1_Missense_Mutation_p.H417R|RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	417					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)		p.H417R(1)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TCCTTTGAGCATGTGTATTAT	0.488																																						dbGAP											1	Substitution - Missense(1)	breast(1)											98.0	98.0	98.0					6																	46657115		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.1250A>G	6.37:g.46657115A>G	ENSP00000346065:p.His417Arg		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.H417R	ENST00000316081.6	37	c.1250	CCDS34470.1	6	.	.	.	.	.	.	.	.	.	.	A	13.94	2.387180	0.42308	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.15139	2.45;2.45	5.36	5.36	0.76844	.	0.107182	0.64402	D	0.000005	T	0.22475	0.0542	L	0.56769	1.78	0.33688	D	0.612943	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.981	T	0.05649	-1.0872	10	0.12766	T	0.61	-21.4217	15.2009	0.73136	1.0:0.0:0.0:0.0	.	417;417	F5H5M3;O60522	.;TDRD6_HUMAN	R	417	ENSP00000443299:H417R;ENSP00000346065:H417R	ENSP00000346065:H417R	H	+	2	0	TDRD6	46765074	0.991000	0.36638	0.995000	0.50966	0.900000	0.52787	2.703000	0.47110	2.246000	0.74042	0.533000	0.62120	CAT	TDRD6	-	NULL	ENSG00000180113		0.488	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	HGNC	protein_coding	OTTHUMT00000040800.1	68	0.00	0	A	XM_166443		46657115	46657115	+1	no_errors	ENST00000316081	ensembl	human	known	69_37n	missense	20	25.93	7	SNP	0.982	G
TP53	7157	genome.wustl.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	GRCh37	CM010465|CM900211	TP53	M	rs121912651						151.0	112.0	125.0					17																	7577539		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R248W	ENST00000269305.4	37	c.742	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	116	0.00	0	G	NM_000546		7577539	7577539	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	20	37.50	12	SNP	1.000	A
TP53	7157	genome.wustl.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	GRCh37	CM010465|CM900211	TP53	M	rs121912651						151.0	112.0	125.0					17																	7577539		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R248W	ENST00000269305.4	37	c.742	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	139	0.00	0	G	NM_000546		7577539	7577539	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	20	37.50	12	SNP	1.000	A
TP53	7157	genome.wustl.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	GRCh37	CM010465|CM900211	TP53	M	rs121912651						151.0	112.0	125.0					17																	7577539		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R248W	ENST00000269305.4	37	c.742	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	116	0.00	0	G	NM_000546		7577539	7577539	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	14	41.67	10	SNP	1.000	A
TP53	7157	genome.wustl.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	GRCh37	CM010465|CM900211	TP53	M	rs121912651						151.0	112.0	125.0					17																	7577539		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R248W	ENST00000269305.4	37	c.742	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	139	0.00	0	G	NM_000546		7577539	7577539	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	14	41.67	10	SNP	1.000	A
UBR4	23352	genome.wustl.edu	37	1	19464532	19464532	+	Missense_Mutation	SNP	C	C	G	rs530578440	byFrequency	TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr1:19464532C>G	ENST00000375254.3	-	60	8902	c.8875G>C	c.(8875-8877)Gaa>Caa	p.E2959Q	UBR4_ENST00000375226.2_Missense_Mutation_p.E2935Q|UBR4_ENST00000375267.2_Missense_Mutation_p.E2959Q|UBR4_ENST00000375217.2_Missense_Mutation_p.E2952Q	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2959					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E2959Q(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ccttcagtttctccttctcct	0.532																																						dbGAP											1	Substitution - Missense(1)	breast(1)											95.0	95.0	95.0					1																	19464532		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.8875G>C	1.37:g.19464532C>G	ENSP00000364403:p.Glu2959Gln		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.E2959Q	ENST00000375254.3	37	c.8875	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.629079	0.87560	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.26957	1.74;1.74;1.7;1.71	5.65	5.65	0.86999	.	0.119957	0.56097	D	0.000038	T	0.34948	0.0915	N	0.14661	0.345	0.80722	D	1	D	0.57899	0.981	D	0.65140	0.932	T	0.27673	-1.0067	10	0.66056	D	0.02	.	18.5036	0.90890	0.0:1.0:0.0:0.0	.	2959	Q5T4S7	UBR4_HUMAN	Q	2959;2959;2952;2935;567;1645	ENSP00000364403:E2959Q;ENSP00000364416:E2959Q;ENSP00000364365:E2952Q;ENSP00000364374:E2935Q	ENSP00000364365:E2952Q	E	-	1	0	UBR4	19337119	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.909000	0.75735	2.668000	0.90789	0.655000	0.94253	GAA	UBR4	-	superfamily_ARM-type_fold	ENSG00000127481		0.532	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	102	0.00	0	C	NM_020765		19464532	19464532	-1	no_errors	ENST00000375267	ensembl	human	known	69_37n	missense	91	10.78	11	SNP	1.000	G
UBR4	23352	genome.wustl.edu	37	1	19464532	19464532	+	Missense_Mutation	SNP	C	C	G	rs530578440	byFrequency	TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr1:19464532C>G	ENST00000375254.3	-	60	8902	c.8875G>C	c.(8875-8877)Gaa>Caa	p.E2959Q	UBR4_ENST00000375226.2_Missense_Mutation_p.E2935Q|UBR4_ENST00000375267.2_Missense_Mutation_p.E2959Q|UBR4_ENST00000375217.2_Missense_Mutation_p.E2952Q	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2959					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E2959Q(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ccttcagtttctccttctcct	0.532																																						dbGAP											1	Substitution - Missense(1)	breast(1)											95.0	95.0	95.0					1																	19464532		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.8875G>C	1.37:g.19464532C>G	ENSP00000364403:p.Glu2959Gln		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.E2959Q	ENST00000375254.3	37	c.8875	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.629079	0.87560	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.26957	1.74;1.74;1.7;1.71	5.65	5.65	0.86999	.	0.119957	0.56097	D	0.000038	T	0.34948	0.0915	N	0.14661	0.345	0.80722	D	1	D	0.57899	0.981	D	0.65140	0.932	T	0.27673	-1.0067	10	0.66056	D	0.02	.	18.5036	0.90890	0.0:1.0:0.0:0.0	.	2959	Q5T4S7	UBR4_HUMAN	Q	2959;2959;2952;2935;567;1645	ENSP00000364403:E2959Q;ENSP00000364416:E2959Q;ENSP00000364365:E2952Q;ENSP00000364374:E2935Q	ENSP00000364365:E2952Q	E	-	1	0	UBR4	19337119	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.909000	0.75735	2.668000	0.90789	0.655000	0.94253	GAA	UBR4	-	superfamily_ARM-type_fold	ENSG00000127481		0.532	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	119	0.00	0	C	NM_020765		19464532	19464532	-1	no_errors	ENST00000375267	ensembl	human	known	69_37n	missense	91	10.78	11	SNP	1.000	G
UBR4	23352	genome.wustl.edu	37	1	19464532	19464532	+	Missense_Mutation	SNP	C	C	G	rs530578440	byFrequency	TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr1:19464532C>G	ENST00000375254.3	-	60	8902	c.8875G>C	c.(8875-8877)Gaa>Caa	p.E2959Q	UBR4_ENST00000375226.2_Missense_Mutation_p.E2935Q|UBR4_ENST00000375267.2_Missense_Mutation_p.E2959Q|UBR4_ENST00000375217.2_Missense_Mutation_p.E2952Q	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2959					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E2959Q(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ccttcagtttctccttctcct	0.532																																						dbGAP											1	Substitution - Missense(1)	breast(1)											95.0	95.0	95.0					1																	19464532		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.8875G>C	1.37:g.19464532C>G	ENSP00000364403:p.Glu2959Gln		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.E2959Q	ENST00000375254.3	37	c.8875	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.629079	0.87560	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.26957	1.74;1.74;1.7;1.71	5.65	5.65	0.86999	.	0.119957	0.56097	D	0.000038	T	0.34948	0.0915	N	0.14661	0.345	0.80722	D	1	D	0.57899	0.981	D	0.65140	0.932	T	0.27673	-1.0067	10	0.66056	D	0.02	.	18.5036	0.90890	0.0:1.0:0.0:0.0	.	2959	Q5T4S7	UBR4_HUMAN	Q	2959;2959;2952;2935;567;1645	ENSP00000364403:E2959Q;ENSP00000364416:E2959Q;ENSP00000364365:E2952Q;ENSP00000364374:E2935Q	ENSP00000364365:E2952Q	E	-	1	0	UBR4	19337119	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.909000	0.75735	2.668000	0.90789	0.655000	0.94253	GAA	UBR4	-	superfamily_ARM-type_fold	ENSG00000127481		0.532	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	102	0.00	0	C	NM_020765		19464532	19464532	-1	no_errors	ENST00000375267	ensembl	human	known	69_37n	missense	59	11.94	8	SNP	1.000	G
UBR4	23352	genome.wustl.edu	37	1	19464532	19464532	+	Missense_Mutation	SNP	C	C	G	rs530578440	byFrequency	TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr1:19464532C>G	ENST00000375254.3	-	60	8902	c.8875G>C	c.(8875-8877)Gaa>Caa	p.E2959Q	UBR4_ENST00000375226.2_Missense_Mutation_p.E2935Q|UBR4_ENST00000375267.2_Missense_Mutation_p.E2959Q|UBR4_ENST00000375217.2_Missense_Mutation_p.E2952Q	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2959					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E2959Q(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ccttcagtttctccttctcct	0.532																																						dbGAP											1	Substitution - Missense(1)	breast(1)											95.0	95.0	95.0					1																	19464532		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.8875G>C	1.37:g.19464532C>G	ENSP00000364403:p.Glu2959Gln		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.E2959Q	ENST00000375254.3	37	c.8875	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.629079	0.87560	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.26957	1.74;1.74;1.7;1.71	5.65	5.65	0.86999	.	0.119957	0.56097	D	0.000038	T	0.34948	0.0915	N	0.14661	0.345	0.80722	D	1	D	0.57899	0.981	D	0.65140	0.932	T	0.27673	-1.0067	10	0.66056	D	0.02	.	18.5036	0.90890	0.0:1.0:0.0:0.0	.	2959	Q5T4S7	UBR4_HUMAN	Q	2959;2959;2952;2935;567;1645	ENSP00000364403:E2959Q;ENSP00000364416:E2959Q;ENSP00000364365:E2952Q;ENSP00000364374:E2935Q	ENSP00000364365:E2952Q	E	-	1	0	UBR4	19337119	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.909000	0.75735	2.668000	0.90789	0.655000	0.94253	GAA	UBR4	-	superfamily_ARM-type_fold	ENSG00000127481		0.532	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	119	0.00	0	C	NM_020765		19464532	19464532	-1	no_errors	ENST00000375267	ensembl	human	known	69_37n	missense	59	11.94	8	SNP	1.000	G
UNC13C	440279	genome.wustl.edu	37	15	54556502	54556502	+	Silent	SNP	T	T	A			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr15:54556502T>A	ENST00000260323.11	+	8	3585	c.3585T>A	c.(3583-3585)atT>atA	p.I1195I	UNC13C_ENST00000537900.1_Silent_p.I1193I|UNC13C_ENST00000545554.1_Silent_p.I1195I	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1195					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.I1195I(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGTTTCAGATTTCTAAAGAAG	0.373																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											45.0	43.0	44.0					15																	54556502		1807	4056	5863	-	-	-	SO:0001819	synonymous_variant	0			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3585T>A	15.37:g.54556502T>A			Q0P613|Q8ND48|Q96NP3	Silent	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.I1195	ENST00000260323.11	37	c.3585	CCDS45264.1	15																																																																																			UNC13C	-	NULL	ENSG00000137766		0.373	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	107	0.00	0	T	NM_173166		54556502	54556502	+1	no_errors	ENST00000260323	ensembl	human	known	69_37n	silent	174	27.87	68	SNP	1.000	A
UNC13C	440279	genome.wustl.edu	37	15	54556502	54556502	+	Silent	SNP	T	T	A			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr15:54556502T>A	ENST00000260323.11	+	8	3585	c.3585T>A	c.(3583-3585)atT>atA	p.I1195I	UNC13C_ENST00000537900.1_Silent_p.I1193I|UNC13C_ENST00000545554.1_Silent_p.I1195I	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1195					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.I1195I(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGTTTCAGATTTCTAAAGAAG	0.373																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											45.0	43.0	44.0					15																	54556502		1807	4056	5863	-	-	-	SO:0001819	synonymous_variant	0			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3585T>A	15.37:g.54556502T>A			Q0P613|Q8ND48|Q96NP3	Silent	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.I1195	ENST00000260323.11	37	c.3585	CCDS45264.1	15																																																																																			UNC13C	-	NULL	ENSG00000137766		0.373	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	109	0.00	0	T	NM_173166		54556502	54556502	+1	no_errors	ENST00000260323	ensembl	human	known	69_37n	silent	174	27.87	68	SNP	1.000	A
UNC13C	440279	genome.wustl.edu	37	15	54556502	54556502	+	Silent	SNP	T	T	A			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr15:54556502T>A	ENST00000260323.11	+	8	3585	c.3585T>A	c.(3583-3585)atT>atA	p.I1195I	UNC13C_ENST00000537900.1_Silent_p.I1193I|UNC13C_ENST00000545554.1_Silent_p.I1195I	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1195					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.I1195I(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGTTTCAGATTTCTAAAGAAG	0.373																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											45.0	43.0	44.0					15																	54556502		1807	4056	5863	-	-	-	SO:0001819	synonymous_variant	0			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3585T>A	15.37:g.54556502T>A			Q0P613|Q8ND48|Q96NP3	Silent	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.I1195	ENST00000260323.11	37	c.3585	CCDS45264.1	15																																																																																			UNC13C	-	NULL	ENSG00000137766		0.373	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	107	0.00	0	T	NM_173166		54556502	54556502	+1	no_errors	ENST00000260323	ensembl	human	known	69_37n	silent	121	28.82	49	SNP	1.000	A
UNC13C	440279	genome.wustl.edu	37	15	54556502	54556502	+	Silent	SNP	T	T	A			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr15:54556502T>A	ENST00000260323.11	+	8	3585	c.3585T>A	c.(3583-3585)atT>atA	p.I1195I	UNC13C_ENST00000537900.1_Silent_p.I1193I|UNC13C_ENST00000545554.1_Silent_p.I1195I	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1195					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.I1195I(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGTTTCAGATTTCTAAAGAAG	0.373																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											45.0	43.0	44.0					15																	54556502		1807	4056	5863	-	-	-	SO:0001819	synonymous_variant	0			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3585T>A	15.37:g.54556502T>A			Q0P613|Q8ND48|Q96NP3	Silent	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.I1195	ENST00000260323.11	37	c.3585	CCDS45264.1	15																																																																																			UNC13C	-	NULL	ENSG00000137766		0.373	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	109	0.00	0	T	NM_173166		54556502	54556502	+1	no_errors	ENST00000260323	ensembl	human	known	69_37n	silent	121	28.82	49	SNP	1.000	A
WDR48	57599	genome.wustl.edu	37	3	39136217	39136217	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr3:39136217C>T	ENST00000302313.5	+	19	2045	c.2017C>T	c.(2017-2019)Cgt>Tgt	p.R673C	WDR48_ENST00000466405.1_3'UTR|WDR48_ENST00000544962.1_Missense_Mutation_p.R398C|WDR48_ENST00000418020.1_Missense_Mutation_p.R117C|WDR48_ENST00000396258.3_Missense_Mutation_p.R591C	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	673					double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)		p.R673C(1)		breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CCTCCATTACCGTCAGAAGTC	0.473																																						dbGAP											1	Substitution - Missense(1)	breast(1)											141.0	135.0	137.0					3																	39136217		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"""WD repeat domain containing"""	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.2017C>T	3.37:g.39136217C>T	ENSP00000307491:p.Arg673Cys		B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Missense_Mutation	SNP	pfam_DUF3337,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R673C	ENST00000302313.5	37	c.2017	CCDS33738.1	3	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657153	0.88154	.	.	ENSG00000114742	ENST00000302313;ENST00000544962;ENST00000396258;ENST00000418020	T;D;T	0.92805	0.45;-3.11;0.18	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.96396	0.8824	M	0.79926	2.475	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.76575	0.988;0.961;0.961;0.975	D	0.96282	0.9207	10	0.87932	D	0	-14.2076	20.1865	0.98220	0.0:1.0:0.0:0.0	.	398;591;664;673	Q8TAF3-5;Q8TAF3-4;Q8TAF3-3;Q8TAF3	.;.;.;WDR48_HUMAN	C	673;398;591;117	ENSP00000307491:R673C;ENSP00000445187:R398C;ENSP00000379557:R591C	ENSP00000307491:R673C	R	+	1	0	WDR48	39111221	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.617000	0.61204	2.775000	0.95449	0.655000	0.94253	CGT	WDR48	-	pfam_DUF3337	ENSG00000114742		0.473	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR48	HGNC	protein_coding	OTTHUMT00000342529.1	75	0.00	0	C	NM_020839		39136217	39136217	+1	no_errors	ENST00000302313	ensembl	human	known	69_37n	missense	62	25.88	22	SNP	1.000	T
WDR48	57599	genome.wustl.edu	37	3	39136217	39136217	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr3:39136217C>T	ENST00000302313.5	+	19	2045	c.2017C>T	c.(2017-2019)Cgt>Tgt	p.R673C	WDR48_ENST00000466405.1_3'UTR|WDR48_ENST00000544962.1_Missense_Mutation_p.R398C|WDR48_ENST00000418020.1_Missense_Mutation_p.R117C|WDR48_ENST00000396258.3_Missense_Mutation_p.R591C	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	673					double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)		p.R673C(1)		breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CCTCCATTACCGTCAGAAGTC	0.473																																						dbGAP											1	Substitution - Missense(1)	breast(1)											141.0	135.0	137.0					3																	39136217		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"""WD repeat domain containing"""	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.2017C>T	3.37:g.39136217C>T	ENSP00000307491:p.Arg673Cys		B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Missense_Mutation	SNP	pfam_DUF3337,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R673C	ENST00000302313.5	37	c.2017	CCDS33738.1	3	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657153	0.88154	.	.	ENSG00000114742	ENST00000302313;ENST00000544962;ENST00000396258;ENST00000418020	T;D;T	0.92805	0.45;-3.11;0.18	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.96396	0.8824	M	0.79926	2.475	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.76575	0.988;0.961;0.961;0.975	D	0.96282	0.9207	10	0.87932	D	0	-14.2076	20.1865	0.98220	0.0:1.0:0.0:0.0	.	398;591;664;673	Q8TAF3-5;Q8TAF3-4;Q8TAF3-3;Q8TAF3	.;.;.;WDR48_HUMAN	C	673;398;591;117	ENSP00000307491:R673C;ENSP00000445187:R398C;ENSP00000379557:R591C	ENSP00000307491:R673C	R	+	1	0	WDR48	39111221	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.617000	0.61204	2.775000	0.95449	0.655000	0.94253	CGT	WDR48	-	pfam_DUF3337	ENSG00000114742		0.473	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR48	HGNC	protein_coding	OTTHUMT00000342529.1	89	0.00	0	C	NM_020839		39136217	39136217	+1	no_errors	ENST00000302313	ensembl	human	known	69_37n	missense	62	25.88	22	SNP	1.000	T
WDR48	57599	genome.wustl.edu	37	3	39136217	39136217	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr3:39136217C>T	ENST00000302313.5	+	19	2045	c.2017C>T	c.(2017-2019)Cgt>Tgt	p.R673C	WDR48_ENST00000466405.1_3'UTR|WDR48_ENST00000544962.1_Missense_Mutation_p.R398C|WDR48_ENST00000418020.1_Missense_Mutation_p.R117C|WDR48_ENST00000396258.3_Missense_Mutation_p.R591C	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	673					double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)		p.R673C(1)		breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CCTCCATTACCGTCAGAAGTC	0.473																																						dbGAP											1	Substitution - Missense(1)	breast(1)											141.0	135.0	137.0					3																	39136217		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"""WD repeat domain containing"""	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.2017C>T	3.37:g.39136217C>T	ENSP00000307491:p.Arg673Cys		B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Missense_Mutation	SNP	pfam_DUF3337,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R673C	ENST00000302313.5	37	c.2017	CCDS33738.1	3	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657153	0.88154	.	.	ENSG00000114742	ENST00000302313;ENST00000544962;ENST00000396258;ENST00000418020	T;D;T	0.92805	0.45;-3.11;0.18	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.96396	0.8824	M	0.79926	2.475	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.76575	0.988;0.961;0.961;0.975	D	0.96282	0.9207	10	0.87932	D	0	-14.2076	20.1865	0.98220	0.0:1.0:0.0:0.0	.	398;591;664;673	Q8TAF3-5;Q8TAF3-4;Q8TAF3-3;Q8TAF3	.;.;.;WDR48_HUMAN	C	673;398;591;117	ENSP00000307491:R673C;ENSP00000445187:R398C;ENSP00000379557:R591C	ENSP00000307491:R673C	R	+	1	0	WDR48	39111221	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.617000	0.61204	2.775000	0.95449	0.655000	0.94253	CGT	WDR48	-	pfam_DUF3337	ENSG00000114742		0.473	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR48	HGNC	protein_coding	OTTHUMT00000342529.1	75	0.00	0	C	NM_020839		39136217	39136217	+1	no_errors	ENST00000302313	ensembl	human	known	69_37n	missense	43	27.87	17	SNP	1.000	T
WDR48	57599	genome.wustl.edu	37	3	39136217	39136217	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr3:39136217C>T	ENST00000302313.5	+	19	2045	c.2017C>T	c.(2017-2019)Cgt>Tgt	p.R673C	WDR48_ENST00000466405.1_3'UTR|WDR48_ENST00000544962.1_Missense_Mutation_p.R398C|WDR48_ENST00000418020.1_Missense_Mutation_p.R117C|WDR48_ENST00000396258.3_Missense_Mutation_p.R591C	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	673					double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)		p.R673C(1)		breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CCTCCATTACCGTCAGAAGTC	0.473																																						dbGAP											1	Substitution - Missense(1)	breast(1)											141.0	135.0	137.0					3																	39136217		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"""WD repeat domain containing"""	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.2017C>T	3.37:g.39136217C>T	ENSP00000307491:p.Arg673Cys		B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Missense_Mutation	SNP	pfam_DUF3337,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R673C	ENST00000302313.5	37	c.2017	CCDS33738.1	3	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657153	0.88154	.	.	ENSG00000114742	ENST00000302313;ENST00000544962;ENST00000396258;ENST00000418020	T;D;T	0.92805	0.45;-3.11;0.18	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.96396	0.8824	M	0.79926	2.475	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.76575	0.988;0.961;0.961;0.975	D	0.96282	0.9207	10	0.87932	D	0	-14.2076	20.1865	0.98220	0.0:1.0:0.0:0.0	.	398;591;664;673	Q8TAF3-5;Q8TAF3-4;Q8TAF3-3;Q8TAF3	.;.;.;WDR48_HUMAN	C	673;398;591;117	ENSP00000307491:R673C;ENSP00000445187:R398C;ENSP00000379557:R591C	ENSP00000307491:R673C	R	+	1	0	WDR48	39111221	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.617000	0.61204	2.775000	0.95449	0.655000	0.94253	CGT	WDR48	-	pfam_DUF3337	ENSG00000114742		0.473	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR48	HGNC	protein_coding	OTTHUMT00000342529.1	89	0.00	0	C	NM_020839		39136217	39136217	+1	no_errors	ENST00000302313	ensembl	human	known	69_37n	missense	43	27.87	17	SNP	1.000	T
ZFPM2	23414	genome.wustl.edu	37	8	106431410	106431410	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr8:106431410T>A	ENST00000407775.2	+	2	329	c.79T>A	c.(79-81)Tgt>Agt	p.C27S	ZFPM2_ENST00000520492.1_5'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	27					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.C27S(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GGAAGAAGAATGTCCATCAGA	0.418																																						dbGAP											1	Substitution - Missense(1)	breast(1)											87.0	81.0	83.0					8																	106431410		1844	4102	5946	-	-	-	SO:0001583	missense	0			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.79T>A	8.37:g.106431410T>A	ENSP00000384179:p.Cys27Ser		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C27S	ENST00000407775.2	37	c.79	CCDS47908.1	8	.	.	.	.	.	.	.	.	.	.	T	11.90	1.777647	0.31502	.	.	ENSG00000169946	ENST00000407775	T	0.18810	2.19	5.37	2.97	0.34412	.	0.170768	0.36409	N	0.002607	T	0.11665	0.0284	N	0.17474	0.49	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.10428	-1.0630	10	0.45353	T	0.12	.	6.9809	0.24702	0.1333:0.072:0.0:0.7947	.	27	Q8WW38	FOG2_HUMAN	S	27	ENSP00000384179:C27S	ENSP00000384179:C27S	C	+	1	0	ZFPM2	106500586	1.000000	0.71417	0.983000	0.44433	0.534000	0.34807	4.763000	0.62257	0.357000	0.24183	-0.468000	0.05107	TGT	ZFPM2	-	NULL	ENSG00000169946		0.418	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM2	HGNC	protein_coding	OTTHUMT00000380614.1	117	0.00	0	T			106431410	106431410	+1	no_errors	ENST00000407775	ensembl	human	known	69_37n	missense	97	36.18	55	SNP	1.000	A
ZFPM2	23414	genome.wustl.edu	37	8	106431410	106431410	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr8:106431410T>A	ENST00000407775.2	+	2	329	c.79T>A	c.(79-81)Tgt>Agt	p.C27S	ZFPM2_ENST00000520492.1_5'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	27					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.C27S(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GGAAGAAGAATGTCCATCAGA	0.418																																						dbGAP											1	Substitution - Missense(1)	breast(1)											87.0	81.0	83.0					8																	106431410		1844	4102	5946	-	-	-	SO:0001583	missense	0			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.79T>A	8.37:g.106431410T>A	ENSP00000384179:p.Cys27Ser		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C27S	ENST00000407775.2	37	c.79	CCDS47908.1	8	.	.	.	.	.	.	.	.	.	.	T	11.90	1.777647	0.31502	.	.	ENSG00000169946	ENST00000407775	T	0.18810	2.19	5.37	2.97	0.34412	.	0.170768	0.36409	N	0.002607	T	0.11665	0.0284	N	0.17474	0.49	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.10428	-1.0630	10	0.45353	T	0.12	.	6.9809	0.24702	0.1333:0.072:0.0:0.7947	.	27	Q8WW38	FOG2_HUMAN	S	27	ENSP00000384179:C27S	ENSP00000384179:C27S	C	+	1	0	ZFPM2	106500586	1.000000	0.71417	0.983000	0.44433	0.534000	0.34807	4.763000	0.62257	0.357000	0.24183	-0.468000	0.05107	TGT	ZFPM2	-	NULL	ENSG00000169946		0.418	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM2	HGNC	protein_coding	OTTHUMT00000380614.1	151	0.00	0	T			106431410	106431410	+1	no_errors	ENST00000407775	ensembl	human	known	69_37n	missense	97	36.18	55	SNP	1.000	A
ZFPM2	23414	genome.wustl.edu	37	8	106431410	106431410	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr8:106431410T>A	ENST00000407775.2	+	2	329	c.79T>A	c.(79-81)Tgt>Agt	p.C27S	ZFPM2_ENST00000520492.1_5'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	27					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.C27S(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GGAAGAAGAATGTCCATCAGA	0.418																																						dbGAP											1	Substitution - Missense(1)	breast(1)											87.0	81.0	83.0					8																	106431410		1844	4102	5946	-	-	-	SO:0001583	missense	0			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.79T>A	8.37:g.106431410T>A	ENSP00000384179:p.Cys27Ser		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C27S	ENST00000407775.2	37	c.79	CCDS47908.1	8	.	.	.	.	.	.	.	.	.	.	T	11.90	1.777647	0.31502	.	.	ENSG00000169946	ENST00000407775	T	0.18810	2.19	5.37	2.97	0.34412	.	0.170768	0.36409	N	0.002607	T	0.11665	0.0284	N	0.17474	0.49	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.10428	-1.0630	10	0.45353	T	0.12	.	6.9809	0.24702	0.1333:0.072:0.0:0.7947	.	27	Q8WW38	FOG2_HUMAN	S	27	ENSP00000384179:C27S	ENSP00000384179:C27S	C	+	1	0	ZFPM2	106500586	1.000000	0.71417	0.983000	0.44433	0.534000	0.34807	4.763000	0.62257	0.357000	0.24183	-0.468000	0.05107	TGT	ZFPM2	-	NULL	ENSG00000169946		0.418	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM2	HGNC	protein_coding	OTTHUMT00000380614.1	117	0.00	0	T			106431410	106431410	+1	no_errors	ENST00000407775	ensembl	human	known	69_37n	missense	64	41.82	46	SNP	1.000	A
ZFPM2	23414	genome.wustl.edu	37	8	106431410	106431410	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr8:106431410T>A	ENST00000407775.2	+	2	329	c.79T>A	c.(79-81)Tgt>Agt	p.C27S	ZFPM2_ENST00000520492.1_5'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	27					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.C27S(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GGAAGAAGAATGTCCATCAGA	0.418																																						dbGAP											1	Substitution - Missense(1)	breast(1)											87.0	81.0	83.0					8																	106431410		1844	4102	5946	-	-	-	SO:0001583	missense	0			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.79T>A	8.37:g.106431410T>A	ENSP00000384179:p.Cys27Ser		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C27S	ENST00000407775.2	37	c.79	CCDS47908.1	8	.	.	.	.	.	.	.	.	.	.	T	11.90	1.777647	0.31502	.	.	ENSG00000169946	ENST00000407775	T	0.18810	2.19	5.37	2.97	0.34412	.	0.170768	0.36409	N	0.002607	T	0.11665	0.0284	N	0.17474	0.49	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.10428	-1.0630	10	0.45353	T	0.12	.	6.9809	0.24702	0.1333:0.072:0.0:0.7947	.	27	Q8WW38	FOG2_HUMAN	S	27	ENSP00000384179:C27S	ENSP00000384179:C27S	C	+	1	0	ZFPM2	106500586	1.000000	0.71417	0.983000	0.44433	0.534000	0.34807	4.763000	0.62257	0.357000	0.24183	-0.468000	0.05107	TGT	ZFPM2	-	NULL	ENSG00000169946		0.418	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM2	HGNC	protein_coding	OTTHUMT00000380614.1	151	0.00	0	T			106431410	106431410	+1	no_errors	ENST00000407775	ensembl	human	known	69_37n	missense	64	41.82	46	SNP	1.000	A
ZNF37BP	100129482	genome.wustl.edu	37	10	43015259	43015259	+	RNA	SNP	G	G	A			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr10:43015259G>A	ENST00000452075.3	-	0	2335					NR_026777.1				zinc finger protein 37B, pseudogene																		TACATTCATAGGGTTTCTCCC	0.348																																						dbGAP											0																																										-	-	-			0			AK026980		10q11.21	2012-10-05	2010-08-03	2010-08-03	ENSG00000234420	ENSG00000234420			13103	pseudogene	pseudogene			"""zinc finger protein 37b (KOX 21)"", ""zinc finger protein 37B"", ""zinc finger protein 37B (pseudogene)"""	ZNF37B		2014798, 8464732	Standard	NR_026777		Approved	KOX21, FLJ23327	uc001jab.4		OTTHUMG00000018011		10.37:g.43015259G>A				RNA	SNP	-	NULL	ENST00000452075.3	37	NULL		10																																																																																			ZNF37BP	-	-	ENSG00000234420		0.348	ZNF37BP-002	KNOWN	basic	processed_transcript	ZNF37BP	HGNC	pseudogene	OTTHUMT00000047675.2	66	0.00	0	G	NR_026777		43015259	43015259	-1	no_errors	ENST00000452075	ensembl	human	known	69_37n	rna	102	23.31	31	SNP	0.862	A
ZNF37BP	100129482	genome.wustl.edu	37	10	43015259	43015259	+	RNA	SNP	G	G	A			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr10:43015259G>A	ENST00000452075.3	-	0	2335					NR_026777.1				zinc finger protein 37B, pseudogene																		TACATTCATAGGGTTTCTCCC	0.348																																						dbGAP											0																																										-	-	-			0			AK026980		10q11.21	2012-10-05	2010-08-03	2010-08-03	ENSG00000234420	ENSG00000234420			13103	pseudogene	pseudogene			"""zinc finger protein 37b (KOX 21)"", ""zinc finger protein 37B"", ""zinc finger protein 37B (pseudogene)"""	ZNF37B		2014798, 8464732	Standard	NR_026777		Approved	KOX21, FLJ23327	uc001jab.4		OTTHUMG00000018011		10.37:g.43015259G>A				RNA	SNP	-	NULL	ENST00000452075.3	37	NULL		10																																																																																			ZNF37BP	-	-	ENSG00000234420		0.348	ZNF37BP-002	KNOWN	basic	processed_transcript	ZNF37BP	HGNC	pseudogene	OTTHUMT00000047675.2	92	0.00	0	G	NR_026777		43015259	43015259	-1	no_errors	ENST00000452075	ensembl	human	known	69_37n	rna	102	23.31	31	SNP	0.862	A
ZNF37BP	100129482	genome.wustl.edu	37	10	43015259	43015259	+	RNA	SNP	G	G	A			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr10:43015259G>A	ENST00000452075.3	-	0	2335					NR_026777.1				zinc finger protein 37B, pseudogene																		TACATTCATAGGGTTTCTCCC	0.348																																						dbGAP											0																																										-	-	-			0			AK026980		10q11.21	2012-10-05	2010-08-03	2010-08-03	ENSG00000234420	ENSG00000234420			13103	pseudogene	pseudogene			"""zinc finger protein 37b (KOX 21)"", ""zinc finger protein 37B"", ""zinc finger protein 37B (pseudogene)"""	ZNF37B		2014798, 8464732	Standard	NR_026777		Approved	KOX21, FLJ23327	uc001jab.4		OTTHUMG00000018011		10.37:g.43015259G>A				RNA	SNP	-	NULL	ENST00000452075.3	37	NULL		10																																																																																			ZNF37BP	-	-	ENSG00000234420		0.348	ZNF37BP-002	KNOWN	basic	processed_transcript	ZNF37BP	HGNC	pseudogene	OTTHUMT00000047675.2	66	0.00	0	G	NR_026777		43015259	43015259	-1	no_errors	ENST00000452075	ensembl	human	known	69_37n	rna	65	21.69	18	SNP	0.862	A
ZNF37BP	100129482	genome.wustl.edu	37	10	43015259	43015259	+	RNA	SNP	G	G	A			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr10:43015259G>A	ENST00000452075.3	-	0	2335					NR_026777.1				zinc finger protein 37B, pseudogene																		TACATTCATAGGGTTTCTCCC	0.348																																						dbGAP											0																																										-	-	-			0			AK026980		10q11.21	2012-10-05	2010-08-03	2010-08-03	ENSG00000234420	ENSG00000234420			13103	pseudogene	pseudogene			"""zinc finger protein 37b (KOX 21)"", ""zinc finger protein 37B"", ""zinc finger protein 37B (pseudogene)"""	ZNF37B		2014798, 8464732	Standard	NR_026777		Approved	KOX21, FLJ23327	uc001jab.4		OTTHUMG00000018011		10.37:g.43015259G>A				RNA	SNP	-	NULL	ENST00000452075.3	37	NULL		10																																																																																			ZNF37BP	-	-	ENSG00000234420		0.348	ZNF37BP-002	KNOWN	basic	processed_transcript	ZNF37BP	HGNC	pseudogene	OTTHUMT00000047675.2	92	0.00	0	G	NR_026777		43015259	43015259	-1	no_errors	ENST00000452075	ensembl	human	known	69_37n	rna	65	21.69	18	SNP	0.862	A
ZNF415	55786	genome.wustl.edu	37	19	53612661	53612661	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr19:53612661C>A	ENST00000500065.4	-	4	970	c.637G>T	c.(637-639)Gaa>Taa	p.E213*	ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000421033.1_Nonsense_Mutation_p.E225*|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000440291.1_Nonsense_Mutation_p.E200*|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000601493.1_5'UTR|ZNF415_ENST00000455735.2_Nonsense_Mutation_p.E261*|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000448501.1_Nonsense_Mutation_p.E261*|ZNF415_ENST00000243643.4_Nonsense_Mutation_p.E213*	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	261					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E213*(1)		breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		TAAGGTTTTTCCCTAATGCAT	0.358																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											147.0	117.0	127.0					19																	53612661		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"""Zinc fingers, C2H2-type"", ""-"""	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.637G>T	19.37:g.53612661C>A	ENSP00000439435:p.Glu213*		F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2	p.E261*	ENST00000500065.4	37	c.781	CCDS54313.1	19	.	.	.	.	.	.	.	.	.	.	C	35	5.564000	0.96527	.	.	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	.	.	.	2.53	0.256	0.15567	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	7.1507	0.25608	0.0:0.7535:0.0:0.2465	.	.	.	.	X	213;213;261;225;261;200	.	ENSP00000243643:E213X	E	-	1	0	ZNF415	58304473	0.000000	0.05858	0.001000	0.08648	0.539000	0.34962	-0.611000	0.05622	0.014000	0.14944	0.313000	0.20887	GAA	ZNF415	-	NULL	ENSG00000170954		0.358	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF415	HGNC	protein_coding	OTTHUMT00000464043.1	129	0.00	0	C	NM_018355		53612661	53612661	-1	no_errors	ENST00000448501	ensembl	human	known	69_37n	nonsense	150	22.68	44	SNP	0.907	A
ZNF415	55786	genome.wustl.edu	37	19	53612661	53612661	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	b1d4c4f2-a008-4a03-9885-33058dd170e7	g.chr19:53612661C>A	ENST00000500065.4	-	4	970	c.637G>T	c.(637-639)Gaa>Taa	p.E213*	ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000421033.1_Nonsense_Mutation_p.E225*|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000440291.1_Nonsense_Mutation_p.E200*|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000601493.1_5'UTR|ZNF415_ENST00000455735.2_Nonsense_Mutation_p.E261*|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000448501.1_Nonsense_Mutation_p.E261*|ZNF415_ENST00000243643.4_Nonsense_Mutation_p.E213*	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	261					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E213*(1)		breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		TAAGGTTTTTCCCTAATGCAT	0.358																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											147.0	117.0	127.0					19																	53612661		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"""Zinc fingers, C2H2-type"", ""-"""	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.637G>T	19.37:g.53612661C>A	ENSP00000439435:p.Glu213*		F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2	p.E261*	ENST00000500065.4	37	c.781	CCDS54313.1	19	.	.	.	.	.	.	.	.	.	.	C	35	5.564000	0.96527	.	.	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	.	.	.	2.53	0.256	0.15567	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	7.1507	0.25608	0.0:0.7535:0.0:0.2465	.	.	.	.	X	213;213;261;225;261;200	.	ENSP00000243643:E213X	E	-	1	0	ZNF415	58304473	0.000000	0.05858	0.001000	0.08648	0.539000	0.34962	-0.611000	0.05622	0.014000	0.14944	0.313000	0.20887	GAA	ZNF415	-	NULL	ENSG00000170954		0.358	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF415	HGNC	protein_coding	OTTHUMT00000464043.1	142	0.00	0	C	NM_018355		53612661	53612661	-1	no_errors	ENST00000448501	ensembl	human	known	69_37n	nonsense	150	22.68	44	SNP	0.907	A
ZNF415	55786	genome.wustl.edu	37	19	53612661	53612661	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr19:53612661C>A	ENST00000500065.4	-	4	970	c.637G>T	c.(637-639)Gaa>Taa	p.E213*	ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000421033.1_Nonsense_Mutation_p.E225*|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000440291.1_Nonsense_Mutation_p.E200*|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000601493.1_5'UTR|ZNF415_ENST00000455735.2_Nonsense_Mutation_p.E261*|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000448501.1_Nonsense_Mutation_p.E261*|ZNF415_ENST00000243643.4_Nonsense_Mutation_p.E213*	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	261					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E213*(1)		breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		TAAGGTTTTTCCCTAATGCAT	0.358																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											147.0	117.0	127.0					19																	53612661		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"""Zinc fingers, C2H2-type"", ""-"""	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.637G>T	19.37:g.53612661C>A	ENSP00000439435:p.Glu213*		F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2	p.E261*	ENST00000500065.4	37	c.781	CCDS54313.1	19	.	.	.	.	.	.	.	.	.	.	C	35	5.564000	0.96527	.	.	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	.	.	.	2.53	0.256	0.15567	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	7.1507	0.25608	0.0:0.7535:0.0:0.2465	.	.	.	.	X	213;213;261;225;261;200	.	ENSP00000243643:E213X	E	-	1	0	ZNF415	58304473	0.000000	0.05858	0.001000	0.08648	0.539000	0.34962	-0.611000	0.05622	0.014000	0.14944	0.313000	0.20887	GAA	ZNF415	-	NULL	ENSG00000170954		0.358	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF415	HGNC	protein_coding	OTTHUMT00000464043.1	129	0.00	0	C	NM_018355		53612661	53612661	-1	no_errors	ENST00000448501	ensembl	human	known	69_37n	nonsense	109	24.31	35	SNP	0.907	A
ZNF415	55786	genome.wustl.edu	37	19	53612661	53612661	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BH-A0BC-01A-22D-A099-09	TCGA-BH-A0BC-11A-22D-A10E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	ca5a91e0-d201-487b-9ea8-bad7d3f9d2dc	05e9d24e-2e5c-47ab-9a0e-9691ab47d808	g.chr19:53612661C>A	ENST00000500065.4	-	4	970	c.637G>T	c.(637-639)Gaa>Taa	p.E213*	ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000421033.1_Nonsense_Mutation_p.E225*|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000440291.1_Nonsense_Mutation_p.E200*|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000601493.1_5'UTR|ZNF415_ENST00000455735.2_Nonsense_Mutation_p.E261*|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000448501.1_Nonsense_Mutation_p.E261*|ZNF415_ENST00000243643.4_Nonsense_Mutation_p.E213*	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	261					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E213*(1)		breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		TAAGGTTTTTCCCTAATGCAT	0.358																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											147.0	117.0	127.0					19																	53612661		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"""Zinc fingers, C2H2-type"", ""-"""	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.637G>T	19.37:g.53612661C>A	ENSP00000439435:p.Glu213*		F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2	p.E261*	ENST00000500065.4	37	c.781	CCDS54313.1	19	.	.	.	.	.	.	.	.	.	.	C	35	5.564000	0.96527	.	.	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	.	.	.	2.53	0.256	0.15567	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	7.1507	0.25608	0.0:0.7535:0.0:0.2465	.	.	.	.	X	213;213;261;225;261;200	.	ENSP00000243643:E213X	E	-	1	0	ZNF415	58304473	0.000000	0.05858	0.001000	0.08648	0.539000	0.34962	-0.611000	0.05622	0.014000	0.14944	0.313000	0.20887	GAA	ZNF415	-	NULL	ENSG00000170954		0.358	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF415	HGNC	protein_coding	OTTHUMT00000464043.1	142	0.00	0	C	NM_018355		53612661	53612661	-1	no_errors	ENST00000448501	ensembl	human	known	69_37n	nonsense	109	24.31	35	SNP	0.907	A
