#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PIK3CG	5294	broad.mit.edu	37	7	106509421	106509421	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr7:106509421G>A	ENST00000359195.3	+	2	1725	c.1415G>A	c.(1414-1416)cGt>cAt	p.R472H	PIK3CG_ENST00000440650.2_Missense_Mutation_p.R472H|PIK3CG_ENST00000496166.1_Missense_Mutation_p.R472H	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	472	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						ATAGACCACCGTTTCCTCCTG	0.532																																						ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(1414-1416)cGt>cAt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							115.0	109.0	111.0					7																	106509421		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106509421G>A		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.1415G>A	7.37:g.106509421G>A	ENSP00000352121:p.Arg472His					PIK3CG_ENST00000496166.1_Missense_Mutation_p.R472H|PIK3CG_ENST00000440650.2_Missense_Mutation_p.R472H	p.R472H	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			2	1725	+			472					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.1415G>A	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.522629	0.85600	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.78707	-1.2;-1.2;-1.2	6.02	6.02	0.97574	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.49916	D	0.000138	D	0.83594	0.5288	L	0.56769	1.78	0.80722	D	1	P	0.48503	0.911	P	0.52514	0.701	T	0.82924	-0.0216	10	0.54805	T	0.06	-27.1758	20.5407	0.99260	0.0:0.0:1.0:0.0	.	472	P48736	PK3CG_HUMAN	H	472	ENSP00000392258:R472H;ENSP00000419260:R472H;ENSP00000352121:R472H	ENSP00000352121:R472H	R	+	2	0	PIK3CG	106296657	1.000000	0.71417	0.971000	0.41717	0.996000	0.88848	9.807000	0.99171	2.865000	0.98341	0.655000	0.94253	CGT		0.532	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			6	87	0	0	0	1	0	6	87				
MUC4	4585	broad.mit.edu	37	3	195515449	195515449	+	Missense_Mutation	SNP	A	A	G	rs200672669	byFrequency	TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr3:195515449A>G	ENST00000463781.3	-	2	3461	c.3002T>C	c.(3001-3003)gTa>gCa	p.V1001A	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.V1001A|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	425	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.V1001A(1)|p.V1001E(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACCTGTGGATACTGAGGAAGC	0.587													.|||	123	0.0245607	0.0401	0.013	5008	,	,		21572	0.002		0.0199	False		,,,				2504	0.0399					ENST00000463781.3																			2	Substitution - Missense(2)	p.V1001A(1)|p.V1001E(1)	prostate(1)|endometrium(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(3001-3003)gTa>gCa		mucin 4, cell surface associated		A	,,ALA/VAL	193,4193		2,189,2002	45.0	36.0	39.0		,,3002	-2.5	0.0	3		39	152,8362		0,152,4105	no	intron,intron,missense	MUC4	NM_004532.5,NM_138297.4,NM_018406.6	,,64	2,341,6107	GG,GA,AA		1.7853,4.4004,2.6744	,,benign	,,1001/5413	195515449	345,12555	2193	4257	6450	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195515449A>G	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.3002T>C	3.37:g.195515449A>G	ENSP00000417498:p.Val1001Ala					MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.V1001A	p.V1001A	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	3461	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1006			Ser-rich.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.3002T>C	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	A	4.034	0.003800	0.07866	0.044004	0.017853	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.36699	1.25;1.24	1.24	-2.48	0.06423	.	.	.	.	.	T	0.03390	0.0098	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.20472	-1.0274	8	.	.	.	.	2.7997	0.05411	0.2821:0.0:0.4902:0.2277	.	1001	E7ESK3	.	A	1001	ENSP00000417498:V1001A;ENSP00000420243:V1001A	.	V	-	2	0	MUC4	196999844	.	.	0.000000	0.03702	0.127000	0.20565	.	.	-0.712000	0.04988	0.055000	0.15244	GTA		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	9	0	0	0	1	0	3	9				
RFTN2	130132	broad.mit.edu	37	2	198498532	198498532	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr2:198498532C>T	ENST00000295049.4	-	4	1164	c.628G>A	c.(628-630)Gga>Aga	p.G210R		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	210					dsRNA transport (GO:0033227)|response to exogenous dsRNA (GO:0043330)	plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						TCCTCAATTCCGCTTTCAGAT	0.413																																						ENST00000295049.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						c.(628-630)Gga>Aga		raftlin family member 2							240.0	215.0	224.0					2																	198498532		2203	4300	6503	SO:0001583	missense	130132					plasma membrane		g.chr2:198498532C>T	AK055136	CCDS2323.1	2q33.1	2008-02-05	2006-09-28	2006-09-28	ENSG00000162944	ENSG00000162944			26402	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 11"""	C2orf11			Standard	NM_144629		Approved	FLJ30574, Raftlin-2	uc002uuo.4	Q52LD8	OTTHUMG00000132746	ENST00000295049.4:c.628G>A	2.37:g.198498532C>T	ENSP00000295049:p.Gly210Arg						p.G210R	NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN			4	1164	-			210					Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	Missense_Mutation	SNP	ENST00000295049.4	37	c.628G>A	CCDS2323.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.754218	0.69648	.	.	ENSG00000162944	ENST00000295049	T	0.32515	1.45	5.27	3.43	0.39272	.	0.330020	0.31188	N	0.008095	T	0.47135	0.1429	L	0.57536	1.79	0.36159	D	0.847976	D	0.89917	1.0	D	0.81914	0.995	T	0.53549	-0.8423	10	0.48119	T	0.1	-16.1262	9.3954	0.38399	0.0:0.7796:0.1438:0.0767	.	210	Q52LD8	RFTN2_HUMAN	R	210	ENSP00000295049:G210R	ENSP00000295049:G210R	G	-	1	0	RFTN2	198206777	0.999000	0.42202	0.048000	0.18961	0.974000	0.67602	3.337000	0.52120	0.683000	0.31428	0.655000	0.94253	GGA		0.413	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256106.2	NM_144629		5	160	0	0	0	1	0	5	160				
WNK4	65266	broad.mit.edu	37	17	40937388	40937388	+	Missense_Mutation	SNP	T	T	C			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr17:40937388T>C	ENST00000246914.5	+	6	1385	c.1364T>C	c.(1363-1365)cTc>cCc	p.L455P	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	455					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GGCCTCAAGCTCTGGCTGCGC	0.711																																					Esophageal Squamous(6;201 374 4964 23855 42828)	ENST00000246914.5																			0				NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35						c.(1363-1365)cTc>cCc		WNK lysine deficient protein kinase 4							14.0	16.0	15.0					17																	40937388		2189	4278	6467	SO:0001583	missense	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40937388T>C	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.1364T>C	17.37:g.40937388T>C	ENSP00000246914:p.Leu455Pro					WNK4_ENST00000587705.1_3'UTR	p.L455P	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	6	1385	+		Breast(137;0.000143)	455					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	c.1364T>C	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.404947	0.83230	.	.	ENSG00000126562	ENST00000246914;ENST00000316085	T	0.60797	0.16	5.28	5.28	0.74379	Serine/threonine-protein kinase OSR1/WNK, CCT domain (1);	0.380663	0.18412	N	0.142038	T	0.66557	0.2801	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.99;0.997;0.997	T	0.69752	-0.5060	10	0.87932	D	0	-9.5774	14.8592	0.70366	0.0:0.0:0.0:1.0	.	455;455;455	Q96J92-3;B0LPI0;Q96J92	.;.;WNK4_HUMAN	P	455;227	ENSP00000246914:L455P	ENSP00000246914:L455P	L	+	2	0	WNK4	38190914	1.000000	0.71417	1.000000	0.80357	0.509000	0.34042	8.037000	0.88933	1.994000	0.58287	0.454000	0.30748	CTC		0.711	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			5	11	0	0	0	1	0	5	11				
MTMR3	8897	broad.mit.edu	37	22	30398881	30398881	+	Missense_Mutation	SNP	C	C	G			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr22:30398881C>G	ENST00000401950.2	+	9	912	c.570C>G	c.(568-570)agC>agG	p.S190R	MTMR3_ENST00000406629.1_Missense_Mutation_p.S190R|MTMR3_ENST00000333027.3_Missense_Mutation_p.S190R|MTMR3_ENST00000351488.3_Missense_Mutation_p.S190R|MTMR3_ENST00000323630.5_Missense_Mutation_p.S54R	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	190	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TATGTGGTAGCTATCCTCAAG	0.488																																						ENST00000333027.3																			0				breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17						c.(568-570)agC>agG		myotubularin related protein 3							102.0	91.0	94.0					22																	30398881		2203	4300	6503	SO:0001583	missense	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30398881C>G	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.570C>G	22.37:g.30398881C>G	ENSP00000384651:p.Ser190Arg					MTMR3_ENST00000323630.5_Missense_Mutation_p.S54R|MTMR3_ENST00000406629.1_Missense_Mutation_p.S190R|MTMR3_ENST00000401950.2_Missense_Mutation_p.S190R|MTMR3_ENST00000351488.3_Missense_Mutation_p.S190R	p.S190R	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		9	898	+			190			Myotubularin phosphatase.		A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	ENST00000401950.2	37	c.570C>G	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.740829	0.69304	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	D;D;D;D;D	0.94723	-3.5;-3.5;-3.5;-3.5;-3.5	5.7	-0.175	0.13315	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.072065	0.85682	D	0.000000	D	0.97056	0.9038	M	0.91038	3.17	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.80764	0.994;0.993;0.994	D	0.96076	0.9050	10	0.87932	D	0	.	10.5685	0.45186	0.0:0.4847:0.0:0.5153	.	190;190;190	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	R	190;190;54;190;190	ENSP00000384651:S190R;ENSP00000331649:S190R;ENSP00000318070:S54R;ENSP00000307271:S190R;ENSP00000384077:S190R	ENSP00000318070:S54R	S	+	3	2	MTMR3	28728881	0.993000	0.37304	0.998000	0.56505	0.990000	0.78478	0.371000	0.20450	0.035000	0.15519	0.467000	0.42956	AGC		0.488	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		3	43	0	0	0	1	0	3	43				
DOCK2	1794	broad.mit.edu	37	5	169504824	169504824	+	Missense_Mutation	SNP	C	C	A			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr5:169504824C>A	ENST00000256935.8	+	48	5057	c.4977C>A	c.(4975-4977)agC>agA	p.S1659R	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.S1151R|DOCK2_ENST00000540750.1_Missense_Mutation_p.S720R	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1659					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCACCCCCAGCAAGCCTACCT	0.602																																						ENST00000256935.8																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(4975-4977)agC>agA		dedicator of cytokinesis 2							97.0	87.0	90.0					5																	169504824		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169504824C>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4977C>A	5.37:g.169504824C>A	ENSP00000256935:p.Ser1659Arg					DOCK2_ENST00000520908.1_Missense_Mutation_p.S1151R|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.S720R	p.S1659R	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		48	5057	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1659					Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.4977C>A	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560169	0.45590	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.09817	3.57;3.23;2.94	5.08	5.08	0.68730	.	0.417781	0.28521	N	0.015049	T	0.08358	0.0208	N	0.24115	0.695	0.41678	D	0.989274	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.08055	0.001;0.003;0.0	T	0.11767	-1.0574	10	0.56958	D	0.05	.	10.908	0.47092	0.0:0.9125:0.0:0.0875	.	1151;215;1659	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	R	1659;1151;720	ENSP00000256935:S1659R;ENSP00000429283:S1151R;ENSP00000438827:S720R	ENSP00000256935:S1659R	S	+	3	2	DOCK2	169437402	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	3.740000	0.55082	2.387000	0.81309	0.558000	0.71614	AGC		0.602	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		3	29	1	0	1	1	1	3	29				
TAF13	6884	broad.mit.edu	37	1	109608797	109608797	+	Missense_Mutation	SNP	T	T	C			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr1:109608797T>C	ENST00000338366.5	-	3	218	c.164A>G	c.(163-165)gAt>gGt	p.D55G		NM_005645.3	NP_005636.1	Q15543	TAF13_HUMAN	TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 18kDa	55					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(1)	3		all_epithelial(167;0.000102)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0138)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.166)|all cancers(265;0.191)|LUSC - Lung squamous cell carcinoma(189;0.228)		TTCAAGAATATCCACTGACTC	0.318																																						ENST00000338366.5																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(163-165)gAt>gGt		TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 18kDa							98.0	92.0	94.0					1																	109608797		2203	4295	6498	SO:0001583	missense	6884				transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIID complex	protein C-terminus binding|sequence-specific DNA binding transcription factor activity	g.chr1:109608797T>C	XM_496381	CCDS30788.1	1p13.3	2010-04-22	2002-08-29	2001-12-07	ENSG00000197780	ENSG00000197780			11546	protein-coding gene	gene with protein product		600774	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, K, 18kD"""	TAF2K		7729427	Standard	NM_005645		Approved	TAFII18	uc001dwm.1	Q15543	OTTHUMG00000042363	ENST00000338366.5:c.164A>G	1.37:g.109608797T>C	ENSP00000355051:p.Asp55Gly						p.D55G	NM_005645.3	NP_005636.1	Q15543	TAF13_HUMAN		Colorectal(144;0.0138)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.166)|all cancers(265;0.191)|LUSC - Lung squamous cell carcinoma(189;0.228)	3	218	-		all_epithelial(167;0.000102)|all_lung(203;0.000321)|Lung NSC(277;0.000626)	55					B2R5E5|Q5TYV6	Missense_Mutation	SNP	ENST00000338366.5	37	c.164A>G	CCDS30788.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.800812	0.90538	.	.	ENSG00000197780	ENST00000338366	.	.	.	5.65	5.65	0.86999	Histone-fold (2);	0.000000	0.85682	D	0.000000	T	0.64627	0.2615	M	0.78637	2.42	0.80722	D	1	P	0.47191	0.891	P	0.49922	0.626	T	0.70824	-0.4767	9	0.62326	D	0.03	.	13.8738	0.63638	0.0:0.0:0.0:1.0	.	55	Q15543	TAF13_HUMAN	G	55	.	ENSP00000355051:D55G	D	-	2	0	TAF13	109410320	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.260000	0.78391	2.371000	0.80710	0.533000	0.62120	GAT		0.318	TAF13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100609.2	NM_005645		8	102	0	0	0	1	0	8	102				
SUCO	51430	broad.mit.edu	37	1	172555033	172555033	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr1:172555033G>A	ENST00000263688.3	+	17	1822	c.1603G>A	c.(1603-1605)Gct>Act	p.A535T	SUCO_ENST00000610051.1_Missense_Mutation_p.A498T|SUCO_ENST00000608151.1_Missense_Mutation_p.A687T|SUCO_ENST00000367723.4_Missense_Mutation_p.A686T	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	535					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											CACTGCCACAGCTGCACCTAA	0.333																																						ENST00000367723.3																			0											c.(2059-2061)Gct>Act		SUN domain containing ossification factor							159.0	176.0	170.0					1																	172555033		2203	4300	6503	SO:0001583	missense	51430							g.chr1:172555033G>A	AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.1603G>A	1.37:g.172555033G>A	ENSP00000263688:p.Ala535Thr					SUCO_ENST00000263688.3_Missense_Mutation_p.A535T	p.A687T	NM_016227.2	NP_057311.2					16	2183	+								B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	ENST00000263688.3	37	c.2059G>A	CCDS1303.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.489336	0.26686	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	4.96	-9.91	0.00458	.	0.787465	0.12313	N	0.480015	T	0.07188	0.0182	L	0.29908	0.895	0.20196	N	0.99993	B;B;B;B	0.10296	0.0;0.0;0.003;0.0	B;B;B;B	0.08055	0.0;0.001;0.003;0.001	T	0.28170	-1.0052	9	0.09590	T	0.72	0.162	12.4263	0.55548	0.6573:0.0873:0.2553:0.0	.	498;535;687;535	B4DYM4;B4DZJ3;Q5H945;Q9UBS9	.;.;.;OSPT_HUMAN	T	687;535	.	ENSP00000263688:A535T	A	+	1	0	C1orf9	170821656	0.929000	0.31497	0.148000	0.22405	0.934000	0.57294	-0.117000	0.10708	-2.562000	0.00473	-1.224000	0.01588	GCT		0.333	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227		5	127	0	0	0	1	0	5	127				
TNS3	64759	broad.mit.edu	37	7	47408548	47408548	+	Silent	SNP	G	G	A			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr7:47408548G>A	ENST00000398879.1	-	17	2061	c.1695C>T	c.(1693-1695)ccC>ccT	p.P565P	TNS3_ENST00000311160.9_Silent_p.P565P|TNS3_ENST00000355730.3_Silent_p.P325P			Q68CZ2	TENS3_HUMAN	tensin 3	565					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TTCTCAGCAGGGGCTGGGGCT	0.647																																						ENST00000398879.1																			0				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						c.(1693-1695)ccC>ccT		tensin 3							40.0	44.0	43.0					7																	47408548		2057	4201	6258	SO:0001819	synonymous_variant	64759					focal adhesion	protein binding	g.chr7:47408548G>A	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.1695C>T	7.37:g.47408548G>A						TNS3_ENST00000355730.3_Silent_p.P325P|TNS3_ENST00000311160.9_Silent_p.P565P	p.P565P			Q68CZ2	TENS3_HUMAN			17	2061	-			565					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Silent	SNP	ENST00000398879.1	37	c.1695C>T	CCDS5506.2																																																																																				0.647	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		5	75	0	0	0	1	0	5	75				
CYP7A1	1581	broad.mit.edu	37	8	59412637	59412637	+	Silent	SNP	A	A	T			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr8:59412637A>T	ENST00000301645.3	-	1	158	c.21T>A	c.(19-21)atT>atA	p.I7I		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	7					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CAATCCCCCAAATCAAAGATG	0.378									Neonatal Giant Cell Hepatitis																													ENST00000301645.3																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34						c.(19-21)atT>atA		cytochrome P450, family 7, subfamily A, polypeptide 1							120.0	119.0	119.0					8																	59412637		2203	4300	6503	SO:0001819	synonymous_variant	1581	Neonatal Giant Cell Hepatitis	Familial Cancer Database	Neonatal Hemochromatosis	bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	g.chr8:59412637A>T	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"""Cytochrome P450s"""	2651	protein-coding gene	gene with protein product	"""cholesterol 7 alpha-monooxygenase"""	118455	"""cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"""	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.21T>A	8.37:g.59412637A>T							p.I7I	NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN			1	158	-		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	7					P78454|Q3MIL8|Q7KZ19	Silent	SNP	ENST00000301645.3	37	c.21T>A	CCDS6171.1																																																																																				0.378	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	NM_000780		7	104	0	0	0	1	0	7	104				
IGKV1-5	28299	broad.mit.edu	37	2	89247114	89247114	+	RNA	SNP	C	C	A	rs548645420		TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr2:89247114C>A	ENST00000496168.1	-	0	236							P01602	KV110_HUMAN	immunoglobulin kappa variable 1-5						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										ACATTTGGCACCTGAGATTGG	0.453																																						ENST00000496168.1																			0																				110.0	106.0	107.0					2																	89247114		1932	4135	6067			0							g.chr2:89247114C>A	Z00001		2p11.2	2012-02-08			ENSG00000243466	ENSG00000243466		"""Immunoglobulins / IGK locus"""	5741	other	immunoglobulin gene							Standard	NG_000834		Approved			P01602	OTTHUMG00000151560		2.37:g.89247114C>A														0	236	-									RNA	SNP	ENST00000496168.1	37																																																																																						0.453	IGKV1-5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323135.1	NG_000834		9	138	1	0	0.0581538	1	0.0610615	9	138				
ASPM	259266	broad.mit.edu	37	1	197056095	197056095	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr1:197056095C>T	ENST00000367409.4	-	27	10425	c.10169G>A	c.(10168-10170)cGa>cAa	p.R3390Q	ASPM_ENST00000367408.1_Missense_Mutation_p.R1055Q|ASPM_ENST00000294732.7_Missense_Mutation_p.R1805Q	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3390					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GGACCTACTTCGTACATCCTA	0.274																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(10168-10170)cGa>cAa		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							55.0	55.0	55.0					1																	197056095		2201	4297	6498	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197056095C>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.10169G>A	1.37:g.197056095C>T	ENSP00000356379:p.Arg3390Gln					ASPM_ENST00000294732.7_Missense_Mutation_p.R1805Q|ASPM_ENST00000367408.1_Missense_Mutation_p.R1055Q	p.R3390Q	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			27	10425	-			3390					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.10169G>A	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.751615	0.31046	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.58358	0.34;1.67;1.36	5.76	1.85	0.25348	.	0.234998	0.34200	N	0.004166	T	0.30293	0.0760	N	0.21583	0.68	0.19945	N	0.99994	P;P	0.46277	0.553;0.875	B;B	0.35312	0.022;0.2	T	0.15607	-1.0431	10	0.28530	T	0.3	.	9.7572	0.40510	0.0:0.7179:0.0:0.2821	.	1805;3390	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	Q	3390;1805;1055	ENSP00000356379:R3390Q;ENSP00000294732:R1805Q;ENSP00000356378:R1055Q	ENSP00000294732:R1805Q	R	-	2	0	ASPM	195322718	0.771000	0.28555	0.997000	0.53966	0.601000	0.36947	0.332000	0.19751	0.085000	0.17107	-0.768000	0.03414	CGA		0.274	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		4	80	0	0	0	1	0	4	80				
MFHAS1	9258	broad.mit.edu	37	8	8748158	8748158	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr8:8748158C>T	ENST00000276282.6	-	1	2997	c.2411G>A	c.(2410-2412)cGg>cAg	p.R804Q		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	804										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		AAGCAGCAACCGAATGACATG	0.582																																					Melanoma(103;1201 2045 17515 28966)	ENST00000276282.6																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21						c.(2410-2412)cGg>cAg		malignant fibrous histiocytoma amplified sequence 1							67.0	66.0	67.0					8																	8748158		2203	4300	6503	SO:0001583	missense	9258							g.chr8:8748158C>T	AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"""leucine rich repeat containing 65"", ""malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"""	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.2411G>A	8.37:g.8748158C>T	ENSP00000276282:p.Arg804Gln						p.R804Q	NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN		COAD - Colon adenocarcinoma(149;0.124)	1	2997	-		Hepatocellular(245;0.217)	804					Q96CI0	Missense_Mutation	SNP	ENST00000276282.6	37	c.2411G>A	CCDS34844.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.780870	0.70222	.	.	ENSG00000147324	ENST00000276282	T	0.36157	1.27	5.14	5.14	0.70334	.	0.151751	0.42420	N	0.000714	T	0.48187	0.1486	L	0.51422	1.61	0.58432	D	0.999997	D	0.76494	0.999	P	0.55545	0.778	T	0.28299	-1.0048	10	0.33940	T	0.23	.	17.7729	0.88499	0.0:1.0:0.0:0.0	.	804	Q9Y4C4	MFHA1_HUMAN	Q	804	ENSP00000276282:R804Q	ENSP00000276282:R804Q	R	-	2	0	MFHAS1	8785568	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.598000	0.67585	2.679000	0.91253	0.655000	0.94253	CGG		0.582	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	NM_004225		5	51	0	0	0	1	0	5	51				
PREX2	80243	broad.mit.edu	37	8	68992720	68992720	+	Missense_Mutation	SNP	G	G	A	rs182978151		TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr8:68992720G>A	ENST00000288368.4	+	16	1962	c.1685G>A	c.(1684-1686)cGt>cAt	p.R562H	RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	562	DEP 2. {ECO:0000255|PROSITE- ProRule:PRU00066}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CTACTTTTCCGTTTTTTTTCG	0.328																																						ENST00000288368.4																			0				NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(1684-1686)cGt>cAt		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2							87.0	87.0	87.0					8																	68992720		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:68992720G>A	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.1685G>A	8.37:g.68992720G>A	ENSP00000288368:p.Arg562His					PREX2_ENST00000529398.1_3'UTR	p.R562H	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			16	1962	+			562			DEP 2.		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.1685G>A	CCDS6201.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	33	5.218974	0.95104	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.27402	1.67	5.59	5.59	0.84812	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.059455	0.64402	D	0.000002	T	0.63710	0.2534	M	0.87328	2.875	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.992;0.993;0.983	T	0.69566	-0.5111	10	0.87932	D	0	.	19.5815	0.95469	0.0:0.0:1.0:0.0	.	562;562;562	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	H	562	ENSP00000288368:R562H	ENSP00000288368:R562H	R	+	2	0	PREX2	69155274	1.000000	0.71417	0.986000	0.45419	0.951000	0.60555	9.429000	0.97481	2.626000	0.88956	0.650000	0.86243	CGT		0.328	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		3	41	0	0	0	1	0	3	41				
AXDND1	126859	broad.mit.edu	37	1	179347852	179347852	+	Missense_Mutation	SNP	G	G	A	rs199947499		TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr1:179347852G>A	ENST00000367618.3	+	5	842	c.455G>A	c.(454-456)cGt>cAt	p.R152H	AXDND1_ENST00000457238.2_Missense_Mutation_p.R152H|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	152										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						CATTTGGCCCGTTCATTACAG	0.363													G|||	1	0.000199681	0.0	0.0	5008	,	,		14137	0.001		0.0	False		,,,				2504	0.0					ENST00000367618.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						c.(454-456)cGt>cAt		axonemal dynein light chain domain containing 1		G	HIS/ARG	0,4406		0,0,2203	120.0	98.0	105.0		455	-3.7	0.0	1		105	1,8599	1.2+/-3.3	0,1,4299	no	missense	AXDND1	NM_144696.4	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	152/1013	179347852	1,13005	2203	4300	6503	SO:0001583	missense	126859							g.chr1:179347852G>A	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.455G>A	1.37:g.179347852G>A	ENSP00000356590:p.Arg152His					AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Missense_Mutation_p.R152H	p.R152H	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN			5	842	+			152					Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	c.455G>A	CCDS30948.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	7.451	0.642732	0.14451	0.0	1.16E-4	ENSG00000162779	ENST00000509175;ENST00000367618;ENST00000360322;ENST00000457238;ENST00000511889;ENST00000434088	T;T;T	0.49139	2.1;0.79;2.11	3.17	-3.71	0.04424	.	1.360170	0.04593	N	0.397158	T	0.25082	0.0609	N	0.04018	-0.295	0.09310	N	1	B;B	0.12630	0.0;0.006	B;B	0.04013	0.0;0.001	T	0.23190	-1.0195	10	0.44086	T	0.13	6.7635	9.1407	0.36901	0.3905:0.0:0.6095:0.0	.	110;152	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	H	110;152;110;152;110;86	ENSP00000356590:R152H;ENSP00000416712:R152H;ENSP00000391716:R86H	ENSP00000353471:R110H	R	+	2	0	AXDND1	177614475	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.603000	0.02077	-0.852000	0.04141	-0.362000	0.07510	CGT		0.363	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696		7	79	0	0	0	1	0	7	79				
NDST3	9348	broad.mit.edu	37	4	118975397	118975397	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr4:118975397C>T	ENST00000296499.5	+	2	735	c.332C>T	c.(331-333)gCc>gTc	p.A111V	NDST3_ENST00000433996.2_Missense_Mutation_p.A111V	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	111	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.A111V(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						ATTGAAATTGCCCCTGGAAAG	0.353																																						ENST00000296499.5																			1	Substitution - Missense(1)	p.A111V(1)	large_intestine(1)	NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						c.(331-333)gCc>gTc		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3							42.0	43.0	43.0					4																	118975397		2203	4298	6501	SO:0001583	missense	9348					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:118975397C>T	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.332C>T	4.37:g.118975397C>T	ENSP00000296499:p.Ala111Val					NDST3_ENST00000433996.2_Missense_Mutation_p.A111V	p.A111V	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN			2	735	+			111			Heparan sulfate N-deacetylase 3.		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	ENST00000296499.5	37	c.332C>T	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.446995	0.43429	.	.	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.47177	1.16;0.85	5.53	4.68	0.58851	.	0.049760	0.85682	D	0.000000	T	0.46964	0.1420	L	0.58969	1.84	0.48185	D	0.999607	B;B;B	0.19583	0.001;0.021;0.037	B;B;B	0.30029	0.006;0.11;0.041	T	0.39418	-0.9615	10	0.32370	T	0.25	.	13.7625	0.62975	0.0:0.9264:0.0:0.0736	.	111;111;111	B4DI67;O95803;O95803-2	.;NDST3_HUMAN;.	V	111	ENSP00000296499:A111V;ENSP00000396625:A111V	ENSP00000296499:A111V	A	+	2	0	NDST3	119194845	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	4.929000	0.63455	2.577000	0.86979	0.650000	0.86243	GCC		0.353	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784		3	58	0	0	0	1	0	3	58				
MCAT	27349	broad.mit.edu	37	22	43529100	43529100	+	Silent	SNP	C	C	T			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr22:43529100C>T	ENST00000290429.6	-	4	1167	c.1122G>A	c.(1120-1122)gtG>gtA	p.V374V	MCAT_ENST00000327555.5_3'UTR	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)	374					fatty acid biosynthetic process (GO:0006633)|metabolic process (GO:0008152)	mitochondrion (GO:0005739)	[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				GGGTCTGCAGCACATCCACGG	0.612																																						ENST00000290429.5																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(1120-1122)gtG>gtA		malonyl CoA:ACP acyltransferase (mitochondrial)							108.0	108.0	108.0					22																	43529100		2203	4300	6503	SO:0001819	synonymous_variant	27349				fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding	g.chr22:43529100C>T	AL359401	CCDS14045.1, CCDS33660.1	22q13.2	2010-04-27			ENSG00000100294	ENSG00000100294	2.3.1.39		29622	protein-coding gene	gene with protein product		614479				12882974	Standard	NM_173467		Approved	MT, MCT, fabD, FASN2C, NET62	uc003bdl.1	Q8IVS2	OTTHUMG00000150704	ENST00000290429.6:c.1122G>A	22.37:g.43529100C>T						MCAT_ENST00000327555.5_3'UTR	p.V374V	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN			4	1167	-		Ovarian(80;0.0694)	374					B0QY72|O95510|O95511	Silent	SNP	ENST00000290429.6	37	c.1122G>A	CCDS33660.1																																																																																				0.612	MCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319677.2	NM_173467		14	199	0	0	0	1	0	14	199				
R3HCC1L	27291	broad.mit.edu	37	10	99968462	99968462	+	Silent	SNP	A	A	G			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr10:99968462A>G	ENST00000298999.3	+	5	894	c.591A>G	c.(589-591)gcA>gcG	p.A197A	R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370584.3_Silent_p.A197A	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	197							nucleotide binding (GO:0000166)										ATGGGGAAGCATTTGAAGACA	0.408																																						ENST00000298999.3																			0											c.(589-591)gcA>gcG		R3H domain and coiled-coil containing 1-like							69.0	69.0	69.0					10																	99968462		2203	4300	6503	SO:0001819	synonymous_variant	27291							g.chr10:99968462A>G	AF525304	CCDS31267.1, CCDS58093.1, CCDS73178.1	10q24.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166024	ENSG00000166024			23512	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 28"""	C10orf28			Standard	NM_014472		Approved	GIDRP86, PSORT	uc001kox.4	Q7Z5L2	OTTHUMG00000018873	ENST00000298999.3:c.591A>G	10.37:g.99968462A>G						R3HCC1L_ENST00000370584.3_Silent_p.A197A|R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370586.2_Intron	p.A197A	NM_014472.4	NP_055287.4					5	894	+								O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Silent	SNP	ENST00000298999.3	37	c.591A>G	CCDS31267.1																																																																																				0.408	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049764.1	NM_014472		8	81	0	0	0	1	0	8	81				
TP53	7157	broad.mit.edu	37	17	7578413	7578413	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr17:7578413C>T	ENST00000269305.4	-	5	706	c.517G>A	c.(517-519)Gtg>Atg	p.V173M	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.V173M|TP53_ENST00000445888.2_Missense_Mutation_p.V173M|TP53_ENST00000455263.2_Missense_Mutation_p.V173M|TP53_ENST00000420246.2_Missense_Mutation_p.V173M|TP53_ENST00000359597.4_Missense_Mutation_p.V173M	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	173	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(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)	CAGCGCCTCACAACCTCCGTC	0.662		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		159	Substitution - Missense(133)|Deletion - Frameshift(12)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(1)	p.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)	upper_aerodigestive_tract(29)|large_intestine(25)|lung(17)|stomach(16)|ovary(14)|breast(11)|oesophagus(9)|central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(6)|skin(6)|bone(5)|liver(4)|vulva(3)|soft_tissue(2)|kidney(1)|biliary_tract(1)|urinary_tract(1)|pancreas(1)|autonomic_ganglia(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	GRCh37	CM070299	TP53	M		c.(517-519)Gtg>Atg	Other conserved DNA damage response genes	tumor protein p53							51.0	51.0	51.0					17																	7578413		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578413C>T	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.517G>A	17.37:g.7578413C>T	ENSP00000269305:p.Val173Met	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)				TP53_ENST00000445888.2_Missense_Mutation_p.V173M|TP53_ENST00000269305.4_Missense_Mutation_p.V173M|TP53_ENST00000413465.2_Missense_Mutation_p.V173M|TP53_ENST00000359597.4_Missense_Mutation_p.V173M|TP53_ENST00000455263.2_Missense_Mutation_p.V173M|TP53_ENST00000574684.1_5'UTR	p.V173M	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	649	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	173		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	ENST00000269305.4	37	c.517G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408040	0.83340	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99860	-7.25;-7.25;-7.25;-7.25;-7.25;-7.25;-7.25;-7.25	5.59	5.59	0.84812	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	0.99891	0.9948	M	0.92459	3.31	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;0.997;0.999;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.988;0.999;1.0;0.978;0.99;1.0	D	0.96586	0.9434	10	0.87932	D	0	-25.5548	17.4784	0.87667	0.0:1.0:0.0:0.0	.	134;173;173;80;173;173;173	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	M	173;173;173;173;173;173;162;80;41;80;41	ENSP00000410739:V173M;ENSP00000352610:V173M;ENSP00000269305:V173M;ENSP00000398846:V173M;ENSP00000391127:V173M;ENSP00000391478:V173M;ENSP00000425104:V41M;ENSP00000423862:V80M	ENSP00000269305:V173M	V	-	1	0	TP53	7519138	1.000000	0.71417	0.150000	0.22450	0.458000	0.32498	7.775000	0.85489	2.804000	0.96469	0.655000	0.94253	GTG		0.662	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		4	84	0	0	0	1	0	4	84				
USF2	7392	broad.mit.edu	37	19	35761491	35761491	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr19:35761491C>T	ENST00000222305.3	+	5	608	c.571C>T	c.(571-573)Cag>Tag	p.Q191*	USF2_ENST00000594064.1_Nonsense_Mutation_p.Q189*|USF2_ENST00000343550.5_Nonsense_Mutation_p.Q124*|USF2_ENST00000379134.3_Intron|USF2_ENST00000595068.1_Nonsense_Mutation_p.Q191*	NM_003367.2	NP_003358.1	Q15853	USF2_HUMAN	upstream transcription factor 2, c-fos interacting	191					lactation (GO:0007595)|late viral transcription (GO:0019086)|lipid homeostasis (GO:0055088)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|regulation of transcription from RNA polymerase II promoter by glucose (GO:0000430)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|double-stranded DNA binding (GO:0003690)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|urinary_tract(1)	13	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCAGAGCTTGCAGGCTGGAGG	0.627																																					NSCLC(103;173 2832 8890)	ENST00000222305.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|urinary_tract(1)	13						c.(571-573)Cag>Tag		upstream transcription factor 2, c-fos interacting							72.0	70.0	70.0					19																	35761491		2203	4300	6503	SO:0001587	stop_gained	7392				lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose	nucleus	bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:35761491C>T	AY007087	CCDS12452.1, CCDS12453.1	19q13	2013-05-21				ENSG00000105698		"""Basic helix-loop-helix proteins"""	12594	protein-coding gene	gene with protein product		600390				8954795	Standard	NM_003367		Approved	FIP, bHLHb12	uc002nyq.1	Q15853		ENST00000222305.3:c.571C>T	19.37:g.35761491C>T	ENSP00000222305:p.Gln191*					USF2_ENST00000379134.3_Intron|USF2_ENST00000595068.1_Nonsense_Mutation_p.Q191*|USF2_ENST00000594064.1_Nonsense_Mutation_p.Q189*|USF2_ENST00000343550.5_Nonsense_Mutation_p.Q124*	p.Q191*	NM_003367.2	NP_003358.1	Q15853	USF2_HUMAN	Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		5	608	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		191					O00671|O00709|Q05750|Q07952|Q15851|Q15852|Q6FI33|Q6YI47	Nonsense_Mutation	SNP	ENST00000222305.3	37	c.571C>T	CCDS12452.1	.	.	.	.	.	.	.	.	.	.	C	37	6.140102	0.97320	.	.	ENSG00000105698	ENST00000222305;ENST00000343550	.	.	.	3.63	3.63	0.41609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	13.1763	0.59629	0.0:1.0:0.0:0.0	.	.	.	.	X	191;124	.	ENSP00000222305:Q191X	Q	+	1	0	USF2	40453331	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.535000	0.73838	2.025000	0.59659	0.555000	0.69702	CAG		0.627	USF2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466056.1	NM_003367		12	68	0	0	0	1	0	12	68				
BCLAF1	9774	broad.mit.edu	37	6	136599066	136599066	+	Missense_Mutation	SNP	C	C	T	rs373341748		TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr6:136599066C>T	ENST00000531224.1	-	4	1205	c.953G>A	c.(952-954)cGt>cAt	p.R318H	BCLAF1_ENST00000527536.1_Missense_Mutation_p.R318H|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R316H|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R318H|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R316H|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R316H	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	318					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AAACGAGGAACGGCCCCTAGA	0.408																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(952-954)cGt>cAt		BCL2-associated transcription factor 1		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4404		0,0,2202	93.0	93.0	93.0		953,953,947	5.5	1.0	6		93	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	BCLAF1	NM_014739.2,NM_001077441.1,NM_001077440.1	29,29,29	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	318/921,318/748,316/870	136599066	1,13003	2202	4300	6502	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136599066C>T	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.953G>A	6.37:g.136599066C>T	ENSP00000435210:p.Arg318His					BCLAF1_ENST00000527536.1_Missense_Mutation_p.R318H|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R318H|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R316H|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R316H|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R316H	p.R318H	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	4	1205	-	Colorectal(23;0.24)		318					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.953G>A	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345284	0.41498	0.0	1.16E-4	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19;2.19;2.19	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000002	T	0.04998	0.0134	N	0.14661	0.345	0.80722	D	1	B;B;B;B	0.24882	0.059;0.113;0.059;0.059	B;B;B;B	0.19391	0.008;0.025;0.008;0.008	T	0.27905	-1.0060	10	0.13108	T	0.6	-2.9258	13.0779	0.59097	0.0:0.9262:0.0:0.0738	.	316;316;318;318	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	H	318;316;318;318;316;316;318	ENSP00000435210:R318H;ENSP00000229446:R316H;ENSP00000435441:R318H;ENSP00000436501:R318H;ENSP00000434826:R316H;ENSP00000376159:R316H;ENSP00000431734:R318H	ENSP00000229446:R316H	R	-	2	0	BCLAF1	136640759	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	3.665000	0.54532	2.754000	0.94517	0.650000	0.86243	CGT		0.408	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		4	159	0	0	0	1	0	4	159				
HTRA2	27429	broad.mit.edu	37	2	74757848	74757848	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr2:74757848G>A	ENST00000258080.3	+	2	1241	c.611G>A	c.(610-612)cGc>cAc	p.R204H	HTRA2_ENST00000467961.1_3'UTR|HTRA2_ENST00000352222.3_Missense_Mutation_p.R204H|AUP1_ENST00000377526.3_5'Flank	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	204	Serine protease.				adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						GCTGATCGGCGCAGAGTCCGT	0.602																																						ENST00000258080.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(610-612)cGc>cAc		HtrA serine peptidase 2							59.0	61.0	61.0					2																	74757848		2203	4300	6503	SO:0001583	missense	27429				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding	g.chr2:74757848G>A		CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"""Serine peptidases / Serine peptidases"", ""Parkinson disease"""	14348	protein-coding gene	gene with protein product		606441	"""protease, serine, 25"""	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.611G>A	2.37:g.74757848G>A	ENSP00000258080:p.Arg204His					HTRA2_ENST00000352222.3_Missense_Mutation_p.R204H|HTRA2_ENST00000467961.1_3'UTR	p.R204H	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN			2	1241	+			204			Serine protease.		Q9HBZ4|Q9P0Y3|Q9P0Y4	Missense_Mutation	SNP	ENST00000258080.3	37	c.611G>A	CCDS1951.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.702439	0.68501	.	.	ENSG00000115317	ENST00000258080;ENST00000352222;ENST00000437202	D;D;D	0.88586	-2.4;-2.4;-2.4	4.94	4.94	0.65067	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (2);	0.109678	0.64402	D	0.000009	D	0.88570	0.6472	L	0.27975	0.815	0.27912	N	0.938579	D;D;D;D	0.89917	0.985;1.0;0.999;0.985	P;D;D;P	0.70016	0.607;0.967;0.956;0.607	T	0.80852	-0.1197	10	0.35671	T	0.21	-7.3943	9.1348	0.36868	0.0967:0.0:0.9033:0.0	.	204;204;204;204	A8K7G2;O43464-3;O43464-2;O43464	.;.;.;HTRA2_HUMAN	H	204;204;191	ENSP00000258080:R204H;ENSP00000312893:R204H;ENSP00000399166:R191H	ENSP00000258080:R204H	R	+	2	0	HTRA2	74611356	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.747000	0.85070	2.584000	0.87258	0.462000	0.41574	CGC		0.602	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252219.2	NM_013247		3	48	0	0	0	1	0	3	48				
CHD7	55636	broad.mit.edu	37	8	61655594	61655594	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr8:61655594C>T	ENST00000423902.2	+	2	2082	c.1603C>T	c.(1603-1605)Cag>Tag	p.Q535*	CHD7_ENST00000524602.1_Nonsense_Mutation_p.Q535*|CHD7_ENST00000525508.1_Nonsense_Mutation_p.Q535*	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	535	Pro-rich.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CCCTCATCACCAGCCTTGGGC	0.587																																						ENST00000423902.2																			0				NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(1603-1605)Cag>Tag		chromodomain helicase DNA binding protein 7							81.0	94.0	90.0					8																	61655594		2129	4236	6365	SO:0001587	stop_gained	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61655594C>T	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.1603C>T	8.37:g.61655594C>T	ENSP00000392028:p.Gln535*					CHD7_ENST00000525508.1_Nonsense_Mutation_p.Q535*|CHD7_ENST00000524602.1_Nonsense_Mutation_p.Q535*	p.Q535*	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		2	2082	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	535			Pro-rich.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Nonsense_Mutation	SNP	ENST00000423902.2	37	c.1603C>T	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	C	46	12.656384	0.99686	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000524602;ENST00000525508	.	.	.	5.67	5.67	0.87782	.	0.000000	0.38326	N	0.001737	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.1617	19.7706	0.96363	0.0:1.0:0.0:0.0	.	.	.	.	X	535	.	ENSP00000307304:Q535X	Q	+	1	0	CHD7	61818148	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.351000	0.73022	2.697000	0.92050	0.655000	0.94253	CAG		0.587	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		6	24	0	0	0	1	0	6	24				
ZNF709	163051	broad.mit.edu	37	19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr19:12575498G>A	ENST00000397732.3	-	4	1409	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T413I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			2	Substitution - Missense(2)	p.T413I(2)	kidney(1)|skin(1)	large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1237-1239)aCt>aTt		zinc finger protein 709							106.0	111.0	109.0					19																	12575498		2202	4299	6501	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575498G>A	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1238C>T	19.37:g.12575498G>A	ENSP00000380840:p.Thr413Ile					CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I	p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	1409	-			413					A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.1238C>T	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.333208	0.01298	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.06142	3.34;3.34	3.05	-3.79	0.04320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35067	N	0.003471	T	0.01976	0.0062	N	0.11000	0.08	0.09310	N	1	B	0.28258	0.205	B	0.25884	0.064	T	0.43814	-0.9368	10	0.02654	T	1	.	5.8441	0.18652	0.2644:0.3999:0.3357:0.0	.	413	Q8N972	ZN709_HUMAN	I	413	ENSP00000380840:T413I;ENSP00000404127:T413I	ENSP00000404127:T413I	T	-	2	0	ZNF709;CTD-2192J16.17	12436498	0.000000	0.05858	0.002000	0.10522	0.972000	0.66771	-2.485000	0.00979	-0.610000	0.05716	0.591000	0.81541	ACT		0.418	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		5	171	0	0	0	1	0	5	171				
GTF2H3	2967	broad.mit.edu	37	12	124118414	124118414	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr12:124118414C>T	ENST00000543341.2	+	1	39	c.8C>T	c.(7-9)tCa>tTa	p.S3L	EIF2B1_ENST00000539951.1_5'Flank|GTF2H3_ENST00000228955.7_5'UTR|EIF2B1_ENST00000424014.2_5'Flank|EIF2B1_ENST00000537073.1_5'Flank|EIF2B1_ENST00000543940.1_5'Flank	NM_001271867.1|NM_001516.3	NP_001258796.1|NP_001507.2	Q13889	TF2H3_HUMAN	general transcription factor IIH, polypeptide 3, 34kDa	3					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|translation (GO:0006412)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		GCCATGGTTTCAGACGGTGAG	0.637								Nucleotide excision repair (NER)																													Melanoma(176;111 2022 3038 14733 36962)	ENST00000543341.2																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10						c.(7-9)tCa>tTa	Nucleotide excision repair (NER)	general transcription factor IIH, polypeptide 3, 34kDa							78.0	73.0	75.0					12																	124118414		2203	4300	6503	SO:0001583	missense	2967				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	core TFIIH complex|holo TFIIH complex	damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding	g.chr12:124118414C>T	Z30093	CCDS9252.1, CCDS61275.1, CCDS73544.1	12q24.31	2012-11-05	2002-08-29		ENSG00000111358	ENSG00000111358		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4657	protein-coding gene	gene with protein product		601750	"""general transcription factor IIH, polypeptide 3 (34kD subunit)"""			8194529	Standard	NM_001516		Approved	BTF2, TFIIH, P34	uc001ufo.2	Q13889	OTTHUMG00000168697	ENST00000543341.2:c.8C>T	12.37:g.124118414C>T	ENSP00000445162:p.Ser3Leu					GTF2H3_ENST00000228955.7_5'UTR	p.S3L	NM_001271867.1|NM_001516.3	NP_001258796.1|NP_001507.2	Q13889	TF2H3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)	1	39	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		3					B2R819|B4DNZ6|Q7L0G0|Q96AT7	Missense_Mutation	SNP	ENST00000543341.2	37	c.8C>T	CCDS9252.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.247493	0.39697	.	.	ENSG00000111358	ENST00000539994;ENST00000538845;ENST00000543341;ENST00000536375	.	.	.	3.73	3.73	0.42828	.	1.560230	0.03792	N	0.263056	T	0.28267	0.0698	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05937	-1.0855	9	0.33940	T	0.23	.	11.3332	0.49487	0.0:1.0:0.0:0.0	.	3	Q13889	TF2H3_HUMAN	L	3	.	ENSP00000441894:S3L	S	+	2	0	GTF2H3	122684367	0.117000	0.22190	0.127000	0.21898	0.021000	0.10359	2.897000	0.48664	2.371000	0.80710	0.563000	0.77884	TCA		0.637	GTF2H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400641.2	NM_001516		8	90	0	0	0	1	0	8	90				
ANKRD20A5P	440482	broad.mit.edu	37	18	14183714	14183714	+	RNA	SNP	A	A	G			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr18:14183714A>G	ENST00000581935.1	+	0	565							A0PJZ0	A20A5_HUMAN	ankyrin repeat domain 20 family, member A5, pseudogene											lung(3)	3						TGGTTAACAGAAAATGCCAGA	0.398																																						ENST00000581935.1																			0				lung(3)	3															129.0	127.0	128.0					18																	14183714		2203	4300	6503			0							g.chr18:14183714A>G	BC022023		18p11.21	2011-06-01	2011-06-01	2011-06-01	ENSG00000186481	ENSG00000186481			33833	pseudogene	pseudogene			"""ankyrin repeat domain 20 family, member A5"""	ANKRD20A5			Standard	NR_040113		Approved	MGC26718	uc010xag.2	A0PJZ0	OTTHUMG00000157172		18.37:g.14183714A>G														0	565	+								Q4G1B6	RNA	SNP	ENST00000581935.1	37																																																																																						0.398	ANKRD20A5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000442833.1			12	278	0	0	0	1	0	12	278				
SUSD4	55061	broad.mit.edu	37	1	223465960	223465960	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr1:223465960C>T	ENST00000343846.3	-	2	815	c.182G>A	c.(181-183)gGc>gAc	p.G61D	SUSD4_ENST00000366878.4_Missense_Mutation_p.G61D|SUSD4_ENST00000494793.2_Missense_Mutation_p.G61D|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000344029.6_Missense_Mutation_p.G61D|SUSD4_ENST00000484758.2_Intron			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	61	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.G61D(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		CTCGGGAATGCCGGGGTCAGC	0.522																																						ENST00000343846.3																			2	Substitution - Missense(2)	p.G61D(2)	lung(2)	cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17						c.(181-183)gGc>gAc		sushi domain containing 4							60.0	68.0	65.0					1																	223465960		2203	4300	6503	SO:0001583	missense	55061					integral to membrane		g.chr1:223465960C>T	AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.182G>A	1.37:g.223465960C>T	ENSP00000344219:p.Gly61Asp					SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000366878.4_Missense_Mutation_p.G61D|SUSD4_ENST00000344029.6_Missense_Mutation_p.G61D|SUSD4_ENST00000454695.2_5'UTR	p.G61D			Q5VX71	SUSD4_HUMAN		GBM - Glioblastoma multiforme(131;0.0611)	2	815	-			61			Sushi 1.		D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	ENST00000343846.3	37	c.182G>A	CCDS41471.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.738234	0.49045	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000271787;ENST00000344029	T;T;T	0.63417	-0.04;-0.04;-0.04	5.43	5.43	0.79202	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.48286	D	0.000196	T	0.78285	0.4259	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.70935	0.971;0.968	T	0.80462	-0.1372	10	0.62326	D	0.03	-29.6036	12.5651	0.56306	0.0:0.9238:0.0:0.0762	.	61;61	Q5VX71-3;Q5VX71	.;SUSD4_HUMAN	D	61	ENSP00000344219:G61D;ENSP00000355843:G61D;ENSP00000339926:G61D	ENSP00000271787:G61D	G	-	2	0	SUSD4	221532583	0.991000	0.36638	0.972000	0.41901	0.120000	0.20174	4.086000	0.57664	2.547000	0.85894	0.561000	0.74099	GGC		0.522	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		5	75	0	0	0	1	0	5	75				
POLE	5426	broad.mit.edu	37	12	133220026	133220026	+	Missense_Mutation	SNP	G	G	A	rs528264567		TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr12:133220026G>A	ENST00000320574.5	-	34	4454	c.4411C>T	c.(4411-4413)Cgc>Tgc	p.R1471C	POLE_ENST00000535270.1_Missense_Mutation_p.R1444C|POLE_ENST00000434528.3_5'Flank	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1471					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GCCAGAGAGCGCATCTCCAGG	0.587								DNA polymerases (catalytic subunits)					G|||	1	0.000199681	0.0	0.0	5008	,	,		19796	0.001		0.0	False		,,,				2504	0.0					ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(4411-4413)Cgc>Tgc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							138.0	132.0	134.0					12																	133220026		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133220026G>A		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4411C>T	12.37:g.133220026G>A	ENSP00000322570:p.Arg1471Cys					POLE_ENST00000535270.1_Missense_Mutation_p.R1444C	p.R1471C	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	34	4454	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1471					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.4411C>T	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059249	0.55325	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.02974	4.09;4.09;4.09	5.71	5.71	0.89125	.	0.042915	0.85682	D	0.000000	T	0.04952	0.0133	L	0.52126	1.63	0.80722	D	1	B;B	0.24721	0.085;0.11	B;B	0.20577	0.03;0.008	T	0.43015	-0.9417	10	0.38643	T	0.18	.	18.1027	0.89510	0.0:0.0:1.0:0.0	.	1444;1471	F5H1D6;Q07864	.;DPOE1_HUMAN	C	1471;1482;1444	ENSP00000322570:R1471C;ENSP00000406383:R1482C;ENSP00000445753:R1444C	ENSP00000322570:R1471C	R	-	1	0	POLE	131730099	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.972000	0.70448	2.716000	0.92895	0.650000	0.86243	CGC		0.587	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		5	138	0	0	0	1	0	5	138				
SLC25A28	81894	broad.mit.edu	37	10	101371082	101371082	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr10:101371082G>A	ENST00000370495.4	-	4	647	c.619C>T	c.(619-621)Cgg>Tgg	p.R207W	SLC25A28_ENST00000496035.1_5'UTR	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 28	207					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		TCTGTCACCCGGTGGTATGGT	0.547																																						ENST00000370495.4																			0				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11						c.(619-621)Cgg>Tgg		solute carrier family 25 (mitochondrial iron transporter), member 28							84.0	82.0	83.0					10																	101371082		2056	4186	6242	SO:0001583	missense	81894				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane		g.chr10:101371082G>A	AF327402	CCDS41559.1	10q24.2	2013-05-22	2012-03-29		ENSG00000155287	ENSG00000155287		"""Solute carriers"""	23472	protein-coding gene	gene with protein product	"""mitoferrin 2"""	609767	"""solute carrier family 25, member 28"""			11297739	Standard	NM_031212		Approved	MRS3/4, MRS4L	uc001kpx.2	Q96A46	OTTHUMG00000018886	ENST00000370495.4:c.619C>T	10.37:g.101371082G>A	ENSP00000359526:p.Arg207Trp					SLC25A28_ENST00000496035.1_5'UTR	p.R207W	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)	4	647	-		Colorectal(252;0.234)	207					Q4VBZ0|Q5T777|Q86VX5|Q969G8|Q9H2J3	Missense_Mutation	SNP	ENST00000370495.4	37	c.619C>T	CCDS41559.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.512922	0.64522	.	.	ENSG00000155287	ENST00000434701;ENST00000370495	T;T	0.78481	-1.18;-1.18	5.41	5.41	0.78517	Mitochondrial carrier domain (2);	0.248623	0.40818	N	0.001018	D	0.83403	0.5247	L	0.57536	1.79	0.39816	D	0.97277	D	0.69078	0.997	D	0.66979	0.948	D	0.84745	0.0753	10	0.87932	D	0	-41.1562	9.5395	0.39242	0.073:0.0:0.7851:0.1419	.	207	Q96A46	MFRN2_HUMAN	W	68;207	ENSP00000399102:R68W;ENSP00000359526:R207W	ENSP00000359526:R207W	R	-	1	2	SLC25A28	101361072	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.555000	0.45854	2.815000	0.96918	0.561000	0.74099	CGG		0.547	SLC25A28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049801.1	NM_031212		5	101	0	0	0	1	0	5	101				
HSPB1	3315	broad.mit.edu	37	7	75933153	75933153	+	Silent	SNP	C	C	T	rs140791936	byFrequency	TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr7:75933153C>T	ENST00000248553.6	+	2	568	c.399C>T	c.(397-399)taC>taT	p.Y133Y	HSPB1_ENST00000429938.1_5'UTR	NM_001540.3	NP_001531.1	P04792	HSPB1_HUMAN	heat shock 27kDa protein 1	133	Interaction with TGFB1I1. {ECO:0000250}.				cell death (GO:0008219)|cellular component movement (GO:0006928)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of protein kinase activity (GO:0006469)|platelet aggregation (GO:0070527)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of translational initiation (GO:0006446)|response to unfolded protein (GO:0006986)|response to virus (GO:0009615)|retina homeostasis (GO:0001895)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein kinase C inhibitor activity (GO:0008426)|ubiquitin binding (GO:0043130)			large_intestine(1)|lung(3)	4						AGCATGGCTACATCTCCCGGT	0.667													C|||	3	0.000599042	0.0	0.0	5008	,	,		12012	0.003		0.0	False		,,,				2504	0.0					ENST00000248553.6																			0				large_intestine(1)|lung(3)	4						c.(397-399)taC>taT		heat shock 27kDa protein 1							40.0	39.0	39.0					7																	75933153		2203	4299	6502	SO:0001819	synonymous_variant	3315				anti-apoptosis|cell death|cellular component movement|mRNA metabolic process|positive regulation of interleukin-1 beta production|positive regulation of tumor necrosis factor biosynthetic process|regulation of I-kappaB kinase/NF-kappaB cascade|regulation of translational initiation|response to heat|response to unfolded protein|response to virus	cell surface|cytosol|nucleus|proteasome complex|spindle	identical protein binding|protein kinase C delta binding|protein kinase C inhibitor activity|ubiquitin binding	g.chr7:75933153C>T	X54079	CCDS5583.1	7q11.23	2014-09-17	2002-08-29		ENSG00000106211	ENSG00000106211		"""Heat shock proteins / HSPB"""	5246	protein-coding gene	gene with protein product		602195	"""heat shock 27kD protein 1"""			2243808, 9344682	Standard	NM_001540		Approved	HSP27, HSP28, Hs.76067, Hsp25	uc003uew.3	P04792	OTTHUMG00000023228	ENST00000248553.6:c.399C>T	7.37:g.75933153C>T						HSPB1_ENST00000429938.1_5'UTR	p.Y133Y	NM_001540.3	NP_001531.1	P04792	HSPB1_HUMAN			2	568	+			133			Interaction with TGFB1I1 (By similarity).		B2R4N8|Q6FI47|Q96C20|Q96EI7|Q9UC31|Q9UC34|Q9UC35|Q9UC36	Silent	SNP	ENST00000248553.6	37	c.399C>T	CCDS5583.1																																																																																				0.667	HSPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252958.1			4	71	0	0	0	1	0	4	71				
ZNF208	7757	broad.mit.edu	37	19	22156313	22156313	+	Missense_Mutation	SNP	C	C	A	rs62110926		TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr19:22156313C>A	ENST00000397126.4	-	4	1671	c.1523G>T	c.(1522-1524)tGg>tTg	p.W508L	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	508					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTTTGAGGACCAGTTGAAAGC	0.393																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(1522-1524)tGg>tTg		zinc finger protein 208							17.0	16.0	16.0					19																	22156313		692	1589	2281	SO:0001583	missense	7757							g.chr19:22156313C>A	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1523G>T	19.37:g.22156313C>A	ENSP00000380315:p.Trp508Leu					ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	p.W508L	NM_007153.3	NP_009084.2					4	1671	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.1523G>T	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	1.357	-0.589692	0.03799	.	.	ENSG00000160321	ENST00000397126;ENST00000400646	T	0.28255	1.62	2.8	-4.32	0.03688	.	.	.	.	.	T	0.11239	0.0274	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30208	-0.9986	6	0.10636	T	0.68	.	4.7973	0.13279	0.1416:0.1941:0.0:0.6642	.	.	.	.	L	508;34	ENSP00000380315:W508L	ENSP00000380315:W508L	W	-	2	0	ZNF208	21948153	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.791000	0.04599	-1.835000	0.01191	-0.667000	0.03836	TGG		0.393	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		4	64	1	0	0.184627	1	0.18913	4	64				
NAGS	162417	broad.mit.edu	37	17	42084736	42084736	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr17:42084736G>A	ENST00000293404.3	+	5	1260	c.1142G>A	c.(1141-1143)cGc>cAc	p.R381H	PYY_ENST00000360085.2_5'Flank	NM_153006.2	NP_694551.1	Q8N159	NAGS_HUMAN	N-acetylglutamate synthase	381	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial matrix (GO:0005759)	acetyl-CoA:L-glutamate N-acetyltransferase activity (GO:0004042)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CTACGGGTGCGCAGCCTGGAC	0.672											OREG0024449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000293404.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(1141-1143)cGc>cAc		N-acetylglutamate synthase	L-Glutamic Acid(DB00142)						30.0	32.0	32.0					17																	42084736		2197	4300	6497	SO:0001583	missense	162417				arginine biosynthetic process|urea cycle	mitochondrial matrix	acetyl-CoA:L-glutamate N-acetyltransferase activity	g.chr17:42084736G>A	AY116537	CCDS11473.1	17q21.31	2008-02-05				ENSG00000161653			17996	protein-coding gene	gene with protein product		608300				15050968, 12459178	Standard	NM_153006		Approved	AGAS, ARGA, NAT7	uc002ies.3	Q8N159		ENST00000293404.3:c.1142G>A	17.37:g.42084736G>A	ENSP00000293404:p.Arg381His		OREG0024449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	906		p.R381H	NM_153006.2	NP_694551.1	Q8N159	NAGS_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	5	1260	+		Breast(137;0.00536)|Prostate(33;0.0724)	381			N-acetyltransferase.		B2RAZ9|Q8IWR4	Missense_Mutation	SNP	ENST00000293404.3	37	c.1142G>A	CCDS11473.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.607545	0.28623	.	.	ENSG00000161653	ENST00000541745;ENST00000293404	D	0.95238	-3.65	5.56	3.38	0.38709	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);Domain of unknown function DUF619 (1);	1.137020	0.06327	N	0.705475	D	0.87779	0.6263	N	0.11756	0.17	0.19300	N	0.999978	P;P	0.47350	0.894;0.894	B;B	0.40199	0.322;0.322	T	0.80652	-0.1287	10	0.36615	T	0.2	-7.3928	7.6713	0.28460	0.2454:0.0:0.7546:0.0	.	215;381	Q2NKP2;Q8N159	.;NAGS_HUMAN	H	215;381	ENSP00000293404:R381H	ENSP00000293404:R381H	R	+	2	0	NAGS	39440262	0.053000	0.20554	0.948000	0.38648	0.449000	0.32228	0.694000	0.25512	1.358000	0.45922	0.561000	0.74099	CGC		0.672	NAGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457660.1	NM_153006		3	37	0	0	0	1	0	3	37				
LRCH1	23143	broad.mit.edu	37	13	47315978	47315978	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr13:47315978G>A	ENST00000389798.3	+	19	2379	c.2182G>A	c.(2182-2184)Gca>Aca	p.A728T	LRCH1_ENST00000389797.3_Missense_Mutation_p.A763T|LRCH1_ENST00000311191.6_Intron	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	728										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		TGCTCTGTCCGCATAATGTCT	0.502																																						ENST00000389798.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(2182-2184)Gca>Aca		leucine-rich repeats and calponin homology (CH) domain containing 1							181.0	181.0	181.0					13																	47315978		2203	4300	6503	SO:0001583	missense	23143							g.chr13:47315978G>A	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.2182G>A	13.37:g.47315978G>A	ENSP00000374448:p.Ala728Thr					LRCH1_ENST00000389797.3_Missense_Mutation_p.A763T|LRCH1_ENST00000311191.6_Intron	p.A728T	NM_015116.2	NP_055931.1	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)	19	2379	+		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	728					B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	ENST00000389798.3	37	c.2182G>A	CCDS31972.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.716906	0.68844	.	.	ENSG00000136141	ENST00000389798;ENST00000389797	T;T	0.56611	0.52;0.45	5.62	0.916	0.19373	.	0.366355	0.23049	N	0.052519	T	0.27967	0.0689	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.18555	-1.0333	10	0.87932	D	0	-7.3087	6.6356	0.22881	0.2679:0.1182:0.6139:0.0	.	763;728	F8W6F0;Q9Y2L9	.;LRCH1_HUMAN	T	728;763	ENSP00000374448:A728T;ENSP00000374447:A763T	ENSP00000374447:A763T	A	+	1	0	LRCH1	46213979	0.006000	0.16342	0.000000	0.03702	0.900000	0.52787	0.371000	0.20450	-0.072000	0.12864	-0.145000	0.13849	GCA		0.502	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		5	185	0	0	0	1	0	5	185				
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796|rs79472512	byFrequency	TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1				espin pseudogene																		CAGCAGCAGCCAGCTGAGCACC	0.718														1500	0.299521	0.1188	0.3444	5008	,	,		24180	0.4177		0.3101	False		,,,				2504	0.3793					ENST00000492551.1																			0																																																			0							g.chr1:17034125_17034126insAGCT	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17034126_17034129dupAGCT								NR_026567.1						0	477_478	-									RNA	INS	ENST00000492551.1	37																																																																																						0.718	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			7	7						7	7	---	---	---	---
HSPD1P6	645548	broad.mit.edu	37	3	36810381	36810381	+	RNA	DEL	T	T	-			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr3:36810381delT	ENST00000424886.1	-	0	405									heat shock 60kDa protein 1 (chaperonin) pseudogene 6																		GAGTGAGGCCttttttttttt	0.542																																						ENST00000424886.1																			0																																																			0							g.chr3:36810381delT			3p22.3	2010-06-25	2002-08-29	2008-09-22	ENSG00000230067	ENSG00000230067			5267	pseudogene	pseudogene			"""heat shock 60kD protein 1 (chaperonin) pseudogene 6"""	HSPDP6			Standard	NG_008828		Approved	HSPD1-6P			OTTHUMG00000155803		3.37:g.36810381delT														0	405	-									RNA	DEL	ENST00000424886.1	37																																																																																						0.542	HSPD1P6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341724.1	XR_017400		4	8						4	8	---	---	---	---
ZNF717	100131827	broad.mit.edu	37	3	75790810	75790811	+	Frame_Shift_Ins	INS	-	-	T	rs199577560	byFrequency	TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr3:75790810_75790811insT	ENST00000477374.1	-	3	305_306	c.134_135insA	c.(133-135)accfs	p.T45fs	ZNF717_ENST00000422325.1_Frame_Shift_Ins_p.T45fs|ZNF717_ENST00000491507.1_5'UTR|ZNF717_ENST00000400845.3_Frame_Shift_Ins_p.T38fs|ZNF717_ENST00000478296.1_5'UTR			Q9BY31	ZN717_HUMAN	zinc finger protein 717	38	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						CCCTGTACAGGGTCCTCTGAGC	0.51																																						ENST00000422325.1																			0				autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						c.(133-135)actfs		zinc finger protein 717																																				SO:0001589	frameshift_variant	100131827				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr3:75790810_75790811insT	AF226994		3p12.3	2013-01-08			ENSG00000227124	ENSG00000227124		"""Zinc fingers, C2H2-type"", ""-"""	29448	protein-coding gene	gene with protein product			"""zinc finger protein 838"""	ZNF838			Standard	NM_001128223		Approved	X17	uc011bgi.2	Q9BY31	OTTHUMG00000158965	ENST00000477374.1:c.134_135insA	3.37:g.75790810_75790811insT	ENSP00000417902:p.Thr45fs					ZNF717_ENST00000400845.3_Frame_Shift_Ins_p.T38fs|ZNF717_ENST00000477374.1_Frame_Shift_Ins_p.T45fs|ZNF717_ENST00000491507.1_5'UTR|ZNF717_ENST00000478296.1_5'UTR	p.T45fs	NM_001128223.1	NP_001121695.1	C9JSV9	C9JSV9_HUMAN			3	456_457	-			45						Frame_Shift_Ins	INS	ENST00000477374.1	37	c.134_135insA																																																																																					0.510	ZNF717-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000352767.1	NM_001128223		3	4						3	4	---	---	---	---
MCC	4163	broad.mit.edu	37	5	112824048	112824049	+	In_Frame_Ins	INS	-	-	GCC	rs35336557|rs531679771|rs370593160	byFrequency	TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr5:112824048_112824049insGCC	ENST00000408903.3	-	1	478_479	c.63_64insGGC	c.(61-66)ggcagc>ggcGGCagc	p.21_22insG		NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ctgctgccgctgccgccgccgc	0.738														1663	0.332069	0.0227	0.3487	5008	,	,		8489	0.5208		0.3668	False		,,,				2504	0.5082					ENST00000408903.3																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(61-66)gggcgg>ggGGCgcgg		mutated in colorectal cancers																																				SO:0001652	inframe_insertion	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112824048_112824049insGCC		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000408903.3:c.61_63dupGGC	5.37:g.112824055_112824057dupGCC	ENSP00000386227:p.Gly22_Gly23dup						p.21_22GR>GAR	NM_001085377.1	NP_001078846.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	1	478_479	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	549					D3DT05|Q6ZR04	In_Frame_Ins	INS	ENST00000408903.3	37	c.63_64insGGC	CCDS43351.1																																																																																				0.738	MCC-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370839.1	NM_001085377		6	11						6	11	---	---	---	---
PTCRA	171558	broad.mit.edu	37	6	42893146	42893146	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr6:42893146delT	ENST00000304672.1	+	4	653	c.572delT	c.(571-573)ctcfs	p.L191fs	PTCRA_ENST00000446507.1_Frame_Shift_Del_p.L84fs|PTCRA_ENST00000441198.1_Frame_Shift_Del_p.L166fs	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	191					negative regulation of thymocyte apoptotic process (GO:0070244)	integral component of membrane (GO:0016021)				large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CTGCGAGCCCTCGGCTCCCAT	0.711																																						ENST00000304672.1																			0				large_intestine(2)|lung(4)|ovary(2)	8						c.(571-573)ccfs		pre T-cell antigen receptor alpha							10.0	8.0	9.0					6																	42893146		2100	4068	6168	SO:0001589	frameshift_variant	171558					integral to membrane	receptor activity	g.chr6:42893146delT	AF084941	CCDS4874.1, CCDS59019.1, CCDS59020.1, CCDS75457.1	6p21.3	2008-02-05			ENSG00000171611	ENSG00000171611			21290	protein-coding gene	gene with protein product		606817				8618853, 9842925	Standard	NM_138296		Approved	PTA, PT-ALPHA	uc021yzp.1	Q6ISU1	OTTHUMG00000014709	ENST00000304672.1:c.572delT	6.37:g.42893146delT	ENSP00000304447:p.Leu191fs					PTCRA_ENST00000441198.1_Frame_Shift_Del_p.L166fs|PTCRA_ENST00000446507.1_Frame_Shift_Del_p.L84fs	p.L191fs	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)		4	653	+	Colorectal(47;0.196)		191					Q5TFZ7	Frame_Shift_Del	DEL	ENST00000304672.1	37	c.572delT	CCDS4874.1																																																																																				0.711	PTCRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040565.2	NM_138296		2	4						2	4	---	---	---	---
CADM1	23705	broad.mit.edu	37	11	115080312	115080314	+	In_Frame_Del	DEL	TGG	TGG	-	rs370430583		TCGA-XJ-A9DI-01A-11D-A377-08	TCGA-XJ-A9DI-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	344706a8-f56a-4d3b-b7f9-97eb0aa3924d	0d12cfa6-26d0-40cd-9278-2fc8f1f81f08	g.chr11:115080312_115080314delTGG	ENST00000452722.3	-	8	1078_1080	c.1058_1060delCCA	c.(1057-1062)accatc>atc	p.T353del	CADM1_ENST00000537140.1_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000331581.6_In_Frame_Del_p.T353del|CADM1_ENST00000537058.1_In_Frame_Del_p.T353del|CADM1_ENST00000542447.2_Intron	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		atggtaaggatggtggtggtggt	0.429																																						ENST00000537058.1																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(1057-1062)atc>a		cell adhesion molecule 1																																				SO:0001651	inframe_deletion	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115080312_115080314delTGG	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1058_1060delCCA	11.37:g.115080321_115080323delTGG	ENSP00000395359:p.Thr353del					CADM1_ENST00000542447.2_Intron|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000331581.6_In_Frame_Del_p.TI353del|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000452722.2_In_Frame_Del_p.TI353del	p.TI353del			Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	8	1078_1080	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	353	PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).					In_Frame_Del	DEL	ENST00000452722.3	37	c.1058_1060delCCA	CCDS8373.1																																																																																				0.429	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		7	92						7	92	---	---	---	---
