#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ADAMTSL1	92949	genome.wustl.edu	37	9	18892387	18892387	+	Splice_Site	SNP	G	G	T			TCGA-D8-A1JM-01A-11D-A13L-09	TCGA-D8-A1JM-10A-01D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f66d4178-34f3-4f5d-aa0a-7fdd03801033	cc160618-dacb-4809-92d6-78503671cd60	g.chr9:18892387G>T	ENST00000380548.4	+	26	4983	c.4644G>T	c.(4642-4644)cgG>cgT	p.R1548R	ADAMTSL1_ENST00000380545.5_Splice_Site_p.R249R	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1548	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CTCTCCCCAGGTGGATGGTGA	0.597																																						dbGAP											0													26.0	28.0	27.0					9																	18892387		1912	4120	6032	-	-	-	SO:0001630	splice_region_variant	0			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.4644-1G>T	9.37:g.18892387G>T			A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.R249	ENST00000380548.4	37	c.747	CCDS47954.1	9																																																																																			ADAMTSL1	-	superfamily_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000178031		0.597	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1	42	0.00	0	G		Silent	18892387	18892387	+1	no_errors	ENST00000380545	ensembl	human	putative	69_37n	silent	13	23.53	4	SNP	1.000	T
APOBR	55911	genome.wustl.edu	37	16	28506485	28506485	+	Silent	SNP	G	G	A	rs371901468		TCGA-D8-A1JM-01A-11D-A13L-09	TCGA-D8-A1JM-10A-01D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f66d4178-34f3-4f5d-aa0a-7fdd03801033	cc160618-dacb-4809-92d6-78503671cd60	g.chr16:28506485G>A	ENST00000431282.1	+	2	133	c.123G>A	c.(121-123)gcG>gcA	p.A41A	CLN3_ENST00000569430.1_Intron|CLN3_ENST00000567160.1_5'UTR|CLN3_ENST00000360019.2_5'Flank|APOBR_ENST00000328423.5_Silent_p.A41A|APOBR_ENST00000564831.1_Silent_p.A41A			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	41					cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						AGCGGGAGGCGCAGGCGGCTG	0.592																																						dbGAP											0													12.0	16.0	15.0					16																	28506485		1959	4146	6105	-	-	-	SO:0001819	synonymous_variant	0			AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.123G>A	16.37:g.28506485G>A			H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Silent	SNP	NULL	p.A41	ENST00000431282.1	37	c.123		16																																																																																			APOBR	-	NULL	ENSG00000184730		0.592	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	APOBR	HGNC	protein_coding		74	0.00	0	G	NM_182804		28506485	28506485	+1	no_errors	ENST00000564831	ensembl	human	known	69_37n	silent	82	26.13	29	SNP	0.000	A
BCAP31	10134	genome.wustl.edu	37	X	152986328	152986328	+	Splice_Site	SNP	G	G	A			TCGA-D8-A1JM-01A-11D-A13L-09	TCGA-D8-A1JM-10A-01D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f66d4178-34f3-4f5d-aa0a-7fdd03801033	cc160618-dacb-4809-92d6-78503671cd60	g.chrX:152986328G>A	ENST00000345046.6	-	3	599	c.192C>T	c.(190-192)atC>atT	p.I64I	BCAP31_ENST00000458587.2_Splice_Site_p.I131I|BCAP31_ENST00000441714.1_Splice_Site_p.I64I|BCAP31_ENST00000468947.1_5'UTR	NM_001256447.1	NP_001243376.1	P51572	BAP31_HUMAN	B-cell receptor-associated protein 31	64					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein localization to endoplasmic reticulum exit site (GO:0070973)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lipid particle (GO:0005811)|membrane (GO:0016020)				endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCACTCACCGATGACCAACA	0.502													G|||	10	0.00264901	0.0	0.0	3775	,	,		15265	0.0		0.0	False		,,,				2504	0.0102					dbGAP											0													165.0	117.0	133.0					X																	152986328		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			X81109	CCDS14727.1, CCDS48191.1	Xq28	2005-10-11			ENSG00000185825	ENSG00000185825			16695	protein-coding gene	gene with protein product		300398					Standard	NM_001139441		Approved	DXS1357E, BAP31, 6C6-Ag, CDM	uc011mza.1	P51572	OTTHUMG00000024218	ENST00000345046.6:c.193+1C>T	X.37:g.152986328G>A			B3KQ79|D3DWV5|Q13836|Q96CF0	Silent	SNP	pfam_Bap31	p.I131	ENST00000345046.6	37	c.393	CCDS14727.1	X																																																																																			BCAP31	-	pfam_Bap31	ENSG00000185825		0.502	BCAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAP31	HGNC	protein_coding	OTTHUMT00000061071.1	77	0.00	0	G	NM_005745	Silent	152986328	152986328	-1	no_errors	ENST00000458587	ensembl	human	known	69_37n	silent	78	34.45	41	SNP	0.222	A
CA4	762	genome.wustl.edu	37	17	58235472	58235472	+	Silent	SNP	T	T	C			TCGA-D8-A1JM-01A-11D-A13L-09	TCGA-D8-A1JM-10A-01D-A188-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f66d4178-34f3-4f5d-aa0a-7fdd03801033	cc160618-dacb-4809-92d6-78503671cd60	g.chr17:58235472T>C	ENST00000300900.4	+	6	663	c.564T>C	c.(562-564)tcT>tcC	p.S188S		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	188					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|organ development (GO:0048513)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	AGGCACTGTCTAATATCCCCA	0.617																																						dbGAP											0													33.0	34.0	34.0					17																	58235472		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L10955	CCDS11624.1	17q23.1	2012-08-21			ENSG00000167434	ENSG00000167434	4.2.1.1	"""Carbonic anhydrases"""	1375	protein-coding gene	gene with protein product		114760	"""retinitis pigmentosa 17 (autosomal dominant)"""	RP17		8325641	Standard	NM_000717		Approved	CAIV, Car4	uc002iym.4	P22748		ENST00000300900.4:c.564T>C	17.37:g.58235472T>C			B4DQA4|Q6FHI7	Nonstop_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.*107Q	ENST00000300900.4	37	c.319	CCDS11624.1	17																																																																																			CA4	-	NULL	ENSG00000167434		0.617	CA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA4	HGNC	protein_coding	OTTHUMT00000449189.1	41	0.00	0	T	NM_000717		58235472	58235472	+1	no_errors	ENST00000586876	ensembl	human	known	69_37n	nonstop	4	55.56	5	SNP	0.000	C
CD99L2	83692	genome.wustl.edu	37	X	149999738	149999738	+	Silent	SNP	C	C	T			TCGA-D8-A1JM-01A-11D-A13L-09	TCGA-D8-A1JM-10A-01D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f66d4178-34f3-4f5d-aa0a-7fdd03801033	cc160618-dacb-4809-92d6-78503671cd60	g.chrX:149999738C>T	ENST00000370377.3	-	2	213	c.96G>A	c.(94-96)ctG>ctA	p.L32L	CD99L2_ENST00000466436.1_Silent_p.L32L|CD99L2_ENST00000320893.6_Silent_p.L32L|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_Silent_p.L32L|CD99L2_ENST00000355149.3_Silent_p.L32L	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	32					cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCATCCTCCAGGTTAAAAT	0.294																																						dbGAP											0													95.0	88.0	90.0					X																	149999738		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"""MIC2 like 1"", ""CD99 antigen-like 2"""	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.96G>A	X.37:g.149999738C>T			A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	Silent	SNP	pfam_CD99L2	p.L32	ENST00000370377.3	37	c.96	CCDS35427.1	X																																																																																			CD99L2	-	NULL	ENSG00000102181		0.294	CD99L2-001	KNOWN	basic|CCDS	protein_coding	CD99L2	HGNC	protein_coding	OTTHUMT00000061199.1	112	0.00	0	C	NM_031462		149999738	149999738	-1	no_errors	ENST00000370377	ensembl	human	known	69_37n	silent	106	37.28	63	SNP	0.918	T
CHD7	55636	genome.wustl.edu	37	8	61777880	61777880	+	Silent	SNP	T	T	A			TCGA-D8-A1JM-01A-11D-A13L-09	TCGA-D8-A1JM-10A-01D-A188-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f66d4178-34f3-4f5d-aa0a-7fdd03801033	cc160618-dacb-4809-92d6-78503671cd60	g.chr8:61777880T>A	ENST00000423902.2	+	38	8861	c.8382T>A	c.(8380-8382)gcT>gcA	p.A2794A	CHD7_ENST00000524602.1_Silent_p.A745A	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2794					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)			ACCCTGCTGCTGTGCTGCCCC	0.622																																						dbGAP											0													29.0	30.0	29.0					8																	61777880		2022	4188	6210	-	-	-	SO:0001819	synonymous_variant	0			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.8382T>A	8.37:g.61777880T>A			D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.A2794	ENST00000423902.2	37	c.8382	CCDS47865.1	8																																																																																			CHD7	-	NULL	ENSG00000171316		0.622	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	60	0.00	0	T	XM_098762		61777880	61777880	+1	no_errors	ENST00000307121	ensembl	human	known	69_37n	silent	35	47.76	32	SNP	1.000	A
CHMP4C	92421	genome.wustl.edu	37	8	82670443	82670443	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JM-01A-11D-A13L-09	TCGA-D8-A1JM-10A-01D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f66d4178-34f3-4f5d-aa0a-7fdd03801033	cc160618-dacb-4809-92d6-78503671cd60	g.chr8:82670443C>T	ENST00000297265.4	+	4	743	c.550C>T	c.(550-552)Cgc>Tgc	p.R184C		NM_152284.3	NP_689497.1	Q96CF2	CHM4C_HUMAN	charged multivesicular body protein 4C	184	Intramolecular interaction with N- terminus. {ECO:0000250}.				abscission (GO:0009838)|cytokinesis checkpoint (GO:0031565)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|negative regulation of cytokinesis (GO:0032466)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|membrane (GO:0016020)|midbody (GO:0030496)	protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						GACAAATATCCGCCTTCCAAA	0.458																																						dbGAP											0													112.0	107.0	109.0					8																	82670443		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000049	CCDS6233.1	8q21.13	2011-09-21	2011-09-21		ENSG00000164695	ENSG00000164695		"""Charged multivesicular body proteins"""	30599	protein-coding gene	gene with protein product	"""Snf7 homologue associated with Alix 3"""	610899	"""chromatin modifying protein 4C"""			12860994 , 14678797	Standard	NM_152284		Approved	MGC22825, Shax3, VPS32C	uc003ycl.3	Q96CF2	OTTHUMG00000164726	ENST00000297265.4:c.550C>T	8.37:g.82670443C>T	ENSP00000297265:p.Arg184Cys		B2RBZ1	Missense_Mutation	SNP	pfam_Snf7	p.R184C	ENST00000297265.4	37	c.550	CCDS6233.1	8	.	.	.	.	.	.	.	.	.	.	C	13.19	2.162451	0.38217	.	.	ENSG00000164695	ENST00000297265	T	0.72282	-0.64	6.17	2.02	0.26589	.	0.285343	0.39615	N	0.001304	T	0.69593	0.3128	L	0.38175	1.15	0.09310	N	0.999991	P	0.50272	0.933	P	0.58970	0.849	T	0.58381	-0.7646	10	0.59425	D	0.04	-3.627	6.9154	0.24357	0.2059:0.6323:0.09:0.0718	.	184	Q96CF2	CHM4C_HUMAN	C	184	ENSP00000297265:R184C	ENSP00000297265:R184C	R	+	1	0	CHMP4C	82832998	0.000000	0.05858	0.017000	0.16124	0.239000	0.25481	0.186000	0.16978	0.920000	0.36970	-0.126000	0.14955	CGC	CHMP4C	-	pfam_Snf7	ENSG00000164695		0.458	CHMP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHMP4C	HGNC	protein_coding	OTTHUMT00000379927.1	103	0.00	0	C	NM_152284		82670443	82670443	+1	no_errors	ENST00000297265	ensembl	human	known	69_37n	missense	134	27.57	51	SNP	0.007	T
CLEC4C	170482	genome.wustl.edu	37	12	7894054	7894054	+	Silent	SNP	T	T	A			TCGA-D8-A1JM-01A-11D-A13L-09	TCGA-D8-A1JM-10A-01D-A188-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f66d4178-34f3-4f5d-aa0a-7fdd03801033	cc160618-dacb-4809-92d6-78503671cd60	g.chr12:7894054T>A	ENST00000542353.1	-	4	688	c.198A>T	c.(196-198)ccA>ccT	p.P66P	CLEC4C_ENST00000540085.1_Silent_p.P35P|CLEC4C_ENST00000354629.5_Silent_p.P35P|CLEC4C_ENST00000360345.3_Silent_p.P66P	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	66				P -> S (in Ref. 3; AAQ88590). {ECO:0000305}.	innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		AGGTCAGGCTTGGATGATACT	0.428																																						dbGAP											0													206.0	173.0	184.0					12																	7894054		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF325460	CCDS8583.1, CCDS8584.1	12p13.2-p12.3	2008-02-05	2004-02-13	2005-02-11	ENSG00000198178	ENSG00000198178		"""C-type lectin domain containing"", ""CD molecules"""	13258	protein-coding gene	gene with protein product		606677	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 7"""	CLECSF11, CLECSF7		11031109, 11536172	Standard	NM_130441		Approved	HECL, DLEC, BDCA2, CD303	uc001qth.1	Q8WTT0	OTTHUMG00000168441	ENST00000542353.1:c.198A>T	12.37:g.7894054T>A			D3DUU3|Q3T1C3|Q6UXS8|Q8WXX8	Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.P66	ENST00000542353.1	37	c.198	CCDS8583.1	12																																																																																			CLEC4C	-	NULL	ENSG00000198178		0.428	CLEC4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC4C	HGNC	protein_coding	OTTHUMT00000399750.1	136	0.00	0	T	NM_203503		7894054	7894054	-1	no_errors	ENST00000360345	ensembl	human	known	69_37n	silent	457	14.58	78	SNP	0.001	A
COASY	80347	genome.wustl.edu	37	17	40714971	40714971	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1JM-01A-11D-A13L-09	TCGA-D8-A1JM-10A-01D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f66d4178-34f3-4f5d-aa0a-7fdd03801033	cc160618-dacb-4809-92d6-78503671cd60	g.chr17:40714971C>A	ENST00000393818.2	+	1	787	c.331C>A	c.(331-333)Cca>Aca	p.P111T	RP11-400F19.8_ENST00000585572.1_RNA|COASY_ENST00000449624.1_5'UTR|COASY_ENST00000421097.2_Missense_Mutation_p.P111T|COASY_ENST00000590958.1_Missense_Mutation_p.P140T|COASY_ENST00000420359.1_Missense_Mutation_p.P111T	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	111					cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)|pantetheine-phosphate adenylyltransferase activity (GO:0004595)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CGCCCACCCGCCAGAAGTCGT	0.557																																						dbGAP											0													145.0	144.0	144.0					17																	40714971		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	"""Coenzyme A synthase"""			11923312, 11980892	Standard	NM_025233		Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.331C>A	17.37:g.40714971C>A	ENSP00000377406:p.Pro111Thr		B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	Missense_Mutation	SNP	pfam_Depp_CoAkinase,pfam_Cytidylyltransf,tigrfam_Depp_CoAkinase	p.P140T	ENST00000393818.2	37	c.418	CCDS11429.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.3|21.3	4.130075|4.130075	0.77549|0.77549	.|.	.|.	ENSG00000068120|ENSG00000068120	ENST00000426807|ENST00000421097;ENST00000420359;ENST00000393818	.|T;T	.|0.30981	.|1.51;1.51	5.59|5.59	4.6|4.6	0.57074|0.57074	.|.	.|0.054531	.|0.85682	.|N	.|0.000000	T|T	0.42404|0.42404	0.1201|0.1201	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.965	.|D;P	.|0.74023	.|0.982;0.549	T|T	0.18209|0.18209	-1.0344|-1.0344	6|10	0.87932|0.35671	D|T	0|0.21	-19.8012|-19.8012	13.5045|13.5045	0.61477|0.61477	0.1576:0.8424:0.0:0.0|0.1576:0.8424:0.0:0.0	.|.	.|140;111	.|Q13057-2;Q13057	.|.;COASY_HUMAN	D|T	86|140;111;111	.|ENSP00000413338:P111T;ENSP00000377406:P111T	ENSP00000390306:A86D|ENSP00000377406:P111T	A|P	+|+	2|1	0|0	COASY|COASY	37968497|37968497	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.988000|0.988000	0.76386|0.76386	7.122000|7.122000	0.77169|0.77169	1.338000|1.338000	0.45544|0.45544	0.561000|0.561000	0.74099|0.74099	GCC|CCA	COASY	-	NULL	ENSG00000068120		0.557	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	COASY	HGNC	protein_coding	OTTHUMT00000450409.1	50	0.00	0	C	NM_025233		40714971	40714971	+1	no_errors	ENST00000590958	ensembl	human	known	69_37n	missense	8	80.95	34	SNP	1.000	A
CNTNAP1	8506	genome.wustl.edu	37	17	40847798	40847799	+	Missense_Mutation	DNP	CT	CT	GG			TCGA-D8-A1JM-01A-11D-A13L-09	TCGA-D8-A1JM-10A-01D-A188-09	C|T	C|T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f66d4178-34f3-4f5d-aa0a-7fdd03801033	cc160618-dacb-4809-92d6-78503671cd60	g.chr17:40847798_40847799CT>GG	ENST00000264638.4	+	19	3469_3470	c.3252_3253CT>GG	c.(3250-3255)gtCTcc>gtGGcc	p.S1085A	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1085					axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GAGAGGAGGTCTCCTTCAGCTT	0.614																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		Exception_encountered	17.37:g.40847798_40847799delinsGG	ENSP00000264638:p.Ser1085Ala			Silent|Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.V1084|p.S1085A	ENST00000264638.4	37	c.3252|c.3253	CCDS11436.1	17																																																																																			CNTNAP1	-	superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000108797		0.614	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP1	HGNC	protein_coding	OTTHUMT00000452342.1	94	0.00	0	C|T	NM_003632		40847798|40847799	40847798|40847799	+1	no_errors	ENST00000264638	ensembl	human	known	69_37n	silent|missense	16	65.22	30	SNP	0.988|0.992	G
COL4A3	1285	genome.wustl.edu	37	2	228163516	228163516	+	Silent	SNP	A	A	G			TCGA-D8-A1JM-01A-11D-A13L-09	TCGA-D8-A1JM-10A-01D-A188-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f66d4178-34f3-4f5d-aa0a-7fdd03801033	cc160618-dacb-4809-92d6-78503671cd60	g.chr2:228163516A>G	ENST00000396578.3	+	43	4032	c.3870A>G	c.(3868-3870)ccA>ccG	p.P1290P	COL4A3_ENST00000468753.1_3'UTR|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1290	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		ACATGGGACCACCAGGTCGTC	0.393																																						dbGAP											0													53.0	54.0	54.0					2																	228163516		1853	4095	5948	-	-	-	SO:0001819	synonymous_variant	0				CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.3870A>G	2.37:g.228163516A>G			Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.P1290	ENST00000396578.3	37	c.3870	CCDS42829.1	2																																																																																			COL4A3	-	pfam_Collagen	ENSG00000169031		0.393	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3	HGNC	protein_coding	OTTHUMT00000331409.2	26	0.00	0	A	NM_000091		228163516	228163516	+1	no_errors	ENST00000396578	ensembl	human	known	69_37n	silent	24	38.46	15	SNP	0.968	G
DACT2	168002	genome.wustl.edu	37	6	168709386	168709386	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JM-01A-11D-A13L-09	TCGA-D8-A1JM-10A-01D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f66d4178-34f3-4f5d-aa0a-7fdd03801033	cc160618-dacb-4809-92d6-78503671cd60	g.chr6:168709386C>T	ENST00000366795.3	-	4	1139	c.1051G>A	c.(1051-1053)Gag>Aag	p.E351K	DACT2_ENST00000610183.1_Missense_Mutation_p.E181K|DACT2_ENST00000607983.1_Intron|DACT2_ENST00000366796.3_Intron	NM_214462.3	NP_999627.2	Q5SW24	DACT2_HUMAN	dishevelled-binding antagonist of beta-catenin 2	351			E -> G (in dbSNP:rs6925614).		epithelial cell morphogenesis (GO:0003382)|hematopoietic progenitor cell differentiation (GO:0002244)|inner medullary collecting duct development (GO:0072061)|negative regulation of cell adhesion (GO:0007162)|negative regulation of nodal signaling pathway (GO:1900108)|skin development (GO:0043588)	mitochondrion (GO:0005739)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)|transcription factor binding (GO:0008134)			endometrium(1)	1		Breast(66;1.46e-05)|Ovarian(120;0.0728)		OV - Ovarian serous cystadenocarcinoma(33;5.33e-21)|BRCA - Breast invasive adenocarcinoma(81;1.18e-06)|GBM - Glioblastoma multiforme(31;0.000957)		TGTTCTCCCTCGCTACCCTTT	0.657																																						dbGAP											0													39.0	37.0	37.0					6																	168709386		692	1591	2283	-	-	-	SO:0001583	missense	0			AF318336	CCDS47519.1, CCDS69241.1, CCDS75554.1	6q27	2013-05-15	2013-05-15	2003-09-17	ENSG00000164488	ENSG00000164488			21231	protein-coding gene	gene with protein product		608966	"""chromosome 6 open reading frame 116"", ""dapper homolog 2, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 2 (Xenopus laevis)"""	C6orf116			Standard	NM_001286351		Approved	bA503C24.7, DAPPER2	uc003qwq.3	Q5SW24	OTTHUMG00000016046	ENST00000366795.3:c.1051G>A	6.37:g.168709386C>T	ENSP00000355760:p.Glu351Lys		Q2NKJ2|Q569G0|Q8WYW2	Missense_Mutation	SNP	NULL	p.E351K	ENST00000366795.3	37	c.1051	CCDS47519.1	6	.	.	.	.	.	.	.	.	.	.	C	10.70	1.425238	0.25639	.	.	ENSG00000164488	ENST00000366795	T	0.41400	1.0	4.24	3.34	0.38264	.	0.728918	0.12437	U	0.469055	T	0.13543	0.0328	N	0.22421	0.69	0.19775	N	0.999953	B	0.12013	0.005	B	0.13407	0.009	T	0.27434	-1.0074	10	0.49607	T	0.09	-3.1909	10.6817	0.45819	0.1912:0.8087:0.0:0.0	.	351	Q5SW24	DACT2_HUMAN	K	351	ENSP00000355760:E351K	ENSP00000355760:E351K	E	-	1	0	DACT2	168452235	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.141000	0.16076	0.952000	0.37798	0.650000	0.86243	GAG	DACT2	-	NULL	ENSG00000164488		0.657	DACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DACT2	HGNC	protein_coding	OTTHUMT00000043193.1	22	0.00	0	C			168709386	168709386	-1	no_errors	ENST00000366795	ensembl	human	known	69_37n	missense	12	36.84	7	SNP	0.003	T
EXOC6	54536	genome.wustl.edu	37	10	94679793	94679793	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1JM-01A-11D-A13L-09	TCGA-D8-A1JM-10A-01D-A188-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f66d4178-34f3-4f5d-aa0a-7fdd03801033	cc160618-dacb-4809-92d6-78503671cd60	g.chr10:94679793A>G	ENST00000260762.6	+	8	888	c.874A>G	c.(874-876)Att>Gtt	p.I292V	EXOC6_ENST00000371547.4_Missense_Mutation_p.I308V|EXOC6_ENST00000371552.4_Missense_Mutation_p.I287V|EXOC6_ENST00000443748.2_Intron	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	292					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				ATGTTTGCACATTTATTCTGT	0.249																																						dbGAP											0													132.0	119.0	124.0					10																	94679793		2200	4293	6493	-	-	-	SO:0001583	missense	0			BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"""SEC15-like 1 (S. cerevisiae)"""	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.874A>G	10.37:g.94679793A>G	ENSP00000260762:p.Ile292Val		E9PHI3|Q5VXH8|Q9NZ24	Missense_Mutation	SNP	pfam_Sec15,pirsf_Sec15	p.I308V	ENST00000260762.6	37	c.922	CCDS7424.2	10	.	.	.	.	.	.	.	.	.	.	A	17.14	3.312787	0.60414	.	.	ENSG00000138190	ENST00000371547;ENST00000371552;ENST00000260762	T;T;T	0.31247	1.5;1.5;1.5	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.41789	0.1174	M	0.84433	2.695	0.80722	D	1	P;P;P;P	0.39847	0.685;0.691;0.494;0.494	B;B;B;B	0.37888	0.26;0.259;0.125;0.226	T	0.52124	-0.8617	10	0.66056	D	0.02	-18.0203	15.441	0.75181	1.0:0.0:0.0:0.0	.	308;284;292;287	F2Z2Q3;B4DEZ1;Q8TAG9;E9PHI3	.;.;EXOC6_HUMAN;.	V	308;287;292	ENSP00000360602:I308V;ENSP00000360607:I287V;ENSP00000260762:I292V	ENSP00000260762:I292V	I	+	1	0	EXOC6	94669773	1.000000	0.71417	0.998000	0.56505	0.740000	0.42216	7.576000	0.82467	2.195000	0.70347	0.477000	0.44152	ATT	EXOC6	-	pirsf_Sec15	ENSG00000138190		0.249	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6	HGNC	protein_coding	OTTHUMT00000049410.2	284	0.00	0	A	NM_019053		94679793	94679793	+1	no_errors	ENST00000371547	ensembl	human	known	69_37n	missense	213	37.06	126	SNP	1.000	G
FRMD1	79981	genome.wustl.edu	37	6	168462600	168462600	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JM-01A-11D-A13L-09	TCGA-D8-A1JM-10A-01D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f66d4178-34f3-4f5d-aa0a-7fdd03801033	cc160618-dacb-4809-92d6-78503671cd60	g.chr6:168462600G>A	ENST00000283309.6	-	8	996	c.932C>T	c.(931-933)aCg>aTg	p.T311M	FRMD1_ENST00000537786.1_Missense_Mutation_p.T82M|FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000440994.2_Missense_Mutation_p.T243M	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	311	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GGTGCACCCCGTGTAGTAAAC	0.647																																					GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)	dbGAP											0													28.0	30.0	30.0					6																	168462600		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS5306.1, CCDS47518.1	6q27	2008-10-23			ENSG00000153303	ENSG00000153303			21240	protein-coding gene	gene with protein product							Standard	NM_001122841		Approved	FLJ00181, DKFZp434O0117, FLJ40260, FLJ22615, bA164L23.1	uc003qwo.4	Q8N878	OTTHUMG00000016037	ENST00000283309.6:c.932C>T	6.37:g.168462600G>A	ENSP00000283309:p.Thr311Met		B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	Missense_Mutation	SNP	pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	p.T311M	ENST00000283309.6	37	c.932	CCDS5306.1	6	.	.	.	.	.	.	.	.	.	.	G	12.29	1.892890	0.33442	.	.	ENSG00000153303	ENST00000283309;ENST00000440994;ENST00000537786	D;D;D	0.82893	-1.66;-1.66;-1.66	2.37	1.45	0.22620	FERM domain (1);	0.000000	0.64402	U	0.000009	D	0.86543	0.5958	M	0.81802	2.56	0.42393	D	0.992535	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.996;0.997;0.999	D	0.86530	0.1821	10	0.87932	D	0	.	9.5375	0.39231	0.0:0.215:0.785:0.0	.	246;311;243;206	B7Z8G9;Q8N878;Q8N878-2;Q5SZU5	.;FRMD1_HUMAN;.;.	M	311;243;82	ENSP00000283309:T311M;ENSP00000414115:T243M;ENSP00000440078:T82M	ENSP00000283309:T311M	T	-	2	0	FRMD1	168205449	1.000000	0.71417	0.302000	0.25058	0.151000	0.21798	6.189000	0.72051	0.307000	0.22880	0.313000	0.20887	ACG	FRMD1	-	pfscan_FERM_domain	ENSG00000153303		0.647	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD1	HGNC	protein_coding	OTTHUMT00000362513.2	45	0.00	0	G	NM_024919		168462600	168462600	-1	no_errors	ENST00000283309	ensembl	human	known	69_37n	missense	24	38.10	16	SNP	0.996	A
FRMD4A	55691	genome.wustl.edu	37	10	13699219	13699219	+	Silent	SNP	C	C	T			TCGA-D8-A1JM-01A-11D-A13L-09	TCGA-D8-A1JM-10A-01D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f66d4178-34f3-4f5d-aa0a-7fdd03801033	cc160618-dacb-4809-92d6-78503671cd60	g.chr10:13699219C>T	ENST00000357447.2	-	22	2738	c.2370G>A	c.(2368-2370)gcG>gcA	p.A790A	FRMD4A_ENST00000378503.1_Silent_p.A790A|FRMD4A_ENST00000358621.4_Silent_p.A775A	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	790					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CCAGTGCGCCCGCCGCCCGCT	0.751																																						dbGAP											0													11.0	12.0	12.0					10																	13699219		2148	4138	6286	-	-	-	SO:0001819	synonymous_variant	0			AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.2370G>A	10.37:g.13699219C>T			A7E2Y3|Q5T377	Silent	SNP	pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	p.A790	ENST00000357447.2	37	c.2370	CCDS7101.1	10																																																																																			FRMD4A	-	NULL	ENSG00000151474		0.751	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRMD4A	HGNC	protein_coding	OTTHUMT00000046889.1	14	0.00	0	C	NM_018027		13699219	13699219	-1	no_errors	ENST00000357447	ensembl	human	known	69_37n	silent	4	60.00	6	SNP	0.131	T
HDAC1	3065	genome.wustl.edu	37	1	32796496	32796496	+	Silent	SNP	G	G	T	rs367710446		TCGA-D8-A1JM-01A-11D-A13L-09	TCGA-D8-A1JM-10A-01D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f66d4178-34f3-4f5d-aa0a-7fdd03801033	cc160618-dacb-4809-92d6-78503671cd60	g.chr1:32796496G>T	ENST00000373548.3	+	9	1050	c.966G>T	c.(964-966)acG>acT	p.T322T	HDAC1_ENST00000490081.1_3'UTR|HDAC1_ENST00000373541.2_Silent_p.T129T	NM_004964.2	NP_004955.2	Q13547	HDAC1_HUMAN	histone deacetylase 1	322					ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|mitotic cell cycle (GO:0000278)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deacetylation (GO:0006476)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	CCCTGGATACGGAGATCCCTA	0.557																																						dbGAP											0													100.0	81.0	87.0					1																	32796496		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D50405	CCDS360.1	1p34	2008-02-05			ENSG00000116478	ENSG00000116478			4852	protein-coding gene	gene with protein product		601241		RPD3L1		8602529	Standard	NM_004964		Approved	HD1, GON-10	uc001bvb.1	Q13547	OTTHUMG00000007529	ENST00000373548.3:c.966G>T	1.37:g.32796496G>T			Q92534	Silent	SNP	pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse	p.T322	ENST00000373548.3	37	c.966	CCDS360.1	1																																																																																			HDAC1	-	pirsf_His_deacetylse_1	ENSG00000116478		0.557	HDAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC1	HGNC	protein_coding	OTTHUMT00000019815.3	84	0.00	0	G	NM_004964		32796496	32796496	+1	no_errors	ENST00000373548	ensembl	human	known	69_37n	silent	77	31.58	36	SNP	0.529	T
KIF2B	84643	genome.wustl.edu	37	17	51900535	51900535	+	Silent	SNP	G	G	A			TCGA-D8-A1JM-01A-11D-A13L-09	TCGA-D8-A1JM-10A-01D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f66d4178-34f3-4f5d-aa0a-7fdd03801033	cc160618-dacb-4809-92d6-78503671cd60	g.chr17:51900535G>A	ENST00000268919.4	+	1	297	c.141G>A	c.(139-141)acG>acA	p.T47T		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	47					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.T47T(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTGTGGTCACGGAGATCAACA	0.527																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											151.0	124.0	133.0					17																	51900535		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.141G>A	17.37:g.51900535G>A			Q96MA2|Q9BXG6	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.T47	ENST00000268919.4	37	c.141	CCDS32685.1	17																																																																																			KIF2B	-	NULL	ENSG00000141200		0.527	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2B	HGNC	protein_coding	OTTHUMT00000438854.1	70	0.00	0	G	NM_032559		51900535	51900535	+1	no_errors	ENST00000268919	ensembl	human	known	69_37n	silent	11	76.60	36	SNP	0.072	A
KRT81	3887	genome.wustl.edu	37	12	52682214	52682215	+	Frame_Shift_Ins	INS	-	-	T	rs141008448	byFrequency	TCGA-D8-A1JM-01A-11D-A13L-09	TCGA-D8-A1JM-10A-01D-A188-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f66d4178-34f3-4f5d-aa0a-7fdd03801033	cc160618-dacb-4809-92d6-78503671cd60	g.chr12:52682214_52682215insT	ENST00000327741.5	-	4	733_734	c.665_666insA	c.(664-666)aagfs	p.K222fs	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	222	Coil 1B.|Rod.					extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCAGGTCTGACTTGCGGAGGTA	0.619																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X81420	CCDS31805.1	12q13	2013-01-16	2006-07-17	2006-07-17	ENSG00000205426	ENSG00000205426		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6458	protein-coding gene	gene with protein product	"""hard keratin type II 1"""	602153	"""keratin, hair, basic, 1"""	KRTHB1		7556444, 16831889	Standard	NM_002281		Approved	Hb-1	uc001sab.3	Q14533	OTTHUMG00000167574	ENST00000327741.5:c.666dupA	12.37:g.52682216_52682216dupT	ENSP00000369349:p.Lys222fs		Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Frame_Shift_Ins	INS	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.S223fs	ENST00000327741.5	37	c.666_665	CCDS31805.1	12																																																																																			KRT81	-	pfam_F	ENSG00000205426		0.619	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT81	HGNC	protein_coding	OTTHUMT00000395128.2	114	0.00	0	-	NM_002281		52682214	52682215	-1	no_errors	ENST00000327741	ensembl	human	known	69_37n	frame_shift_ins	87	35.07	47	INS	0.668:0.994	T
LAMA5	3911	genome.wustl.edu	37	20	60886769	60886769	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1JM-01A-11D-A13L-09	TCGA-D8-A1JM-10A-01D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f66d4178-34f3-4f5d-aa0a-7fdd03801033	cc160618-dacb-4809-92d6-78503671cd60	g.chr20:60886769G>T	ENST00000252999.3	-	71	9773	c.9707C>A	c.(9706-9708)cCg>cAg	p.P3236Q	LAMA5_ENST00000492698.1_5'Flank	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3236	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CTCAGGCTGCGGCTGGAGCTC	0.667																																						dbGAP											0													5.0	6.0	6.0					20																	60886769		2119	4186	6305	-	-	-	SO:0001583	missense	0			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.9707C>A	20.37:g.60886769G>T	ENSP00000252999:p.Pro3236Gln		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.P3236Q	ENST00000252999.3	37	c.9707	CCDS33502.1	20	.	.	.	.	.	.	.	.	.	.	g	10.66	1.413751	0.25465	.	.	ENSG00000130702	ENST00000252999	T	0.44083	0.93	4.24	2.24	0.28232	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.686063	0.13471	N	0.385455	T	0.26159	0.0638	N	0.12182	0.205	0.09310	N	0.999991	P	0.49696	0.927	P	0.48488	0.579	T	0.08554	-1.0716	10	0.13470	T	0.59	.	5.8334	0.18593	0.2005:0.2124:0.5871:0.0	.	3236	O15230	LAMA5_HUMAN	Q	3236	ENSP00000252999:P3236Q	ENSP00000252999:P3236Q	P	-	2	0	LAMA5	60320164	0.000000	0.05858	0.006000	0.13384	0.437000	0.31866	0.206000	0.17375	0.242000	0.21303	0.486000	0.48141	CCG	LAMA5	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000130702		0.667	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2	24	0.00	0	G	NM_005560		60886769	60886769	-1	no_errors	ENST00000252999	ensembl	human	known	69_37n	missense	5	54.55	6	SNP	0.003	T
LPAR2	9170	genome.wustl.edu	37	19	19735340	19735340	+	Silent	SNP	G	G	A			TCGA-D8-A1JM-01A-11D-A13L-09	TCGA-D8-A1JM-10A-01D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f66d4178-34f3-4f5d-aa0a-7fdd03801033	cc160618-dacb-4809-92d6-78503671cd60	g.chr19:19735340G>A	ENST00000542587.1	-	6	1683	c.781C>T	c.(781-783)Ctg>Ttg	p.L261L	LPAR2_ENST00000407877.3_Silent_p.L261L|LPAR2_ENST00000586703.1_Silent_p.L261L			Q9HBW0	LPAR2_HUMAN	lysophosphatidic acid receptor 2	261					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of Rho protein signal transduction (GO:0035025)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						TCCAGGAGCAGTACCACCTGG	0.592																																						dbGAP											0													71.0	67.0	68.0					19																	19735340		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF011466	CCDS12407.1	19p12	2012-08-08	2008-04-11	2008-04-11		ENSG00000064547		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	3168	protein-coding gene	gene with protein product		605110	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 4"""	EDG4		9525886, 9804623	Standard	NM_004720		Approved	EDG-4, LPA2	uc002nnb.4	Q9HBW0		ENST00000542587.1:c.781C>T	19.37:g.19735340G>A			O00543|O43431	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_LPA_rcpt_EDG4,prints_7TM_GPCR_Rhodpsn,prints_LPA_rcpt,prints_LPA_rcpt_EDG2,prints_Melcrt_ACTH_rcpt,prints_S1P_rcpt	p.L261	ENST00000542587.1	37	c.781	CCDS12407.1	19																																																																																			LPAR2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000064547		0.592	LPAR2-003	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	LPAR2	HGNC	protein_coding	OTTHUMT00000460544.1	32	0.00	0	G	NM_004720		19735340	19735340	-1	no_errors	ENST00000407877	ensembl	human	known	69_37n	silent	32	43.86	25	SNP	0.999	A
MUC12	10071	genome.wustl.edu	37	7	100637242	100637242	+	Missense_Mutation	SNP	G	G	A	rs10248292	byFrequency	TCGA-D8-A1JM-01A-11D-A13L-09	TCGA-D8-A1JM-10A-01D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f66d4178-34f3-4f5d-aa0a-7fdd03801033	cc160618-dacb-4809-92d6-78503671cd60	g.chr7:100637242G>A	ENST00000379442.3	+	5	3827	c.3827G>A	c.(3826-3828)cGt>cAt	p.R1276H	MUC12_ENST00000536621.1_Missense_Mutation_p.R1133H			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	1276	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						ACCACCTCCCGTAGCCAACCA	0.587													-|||	129	0.0257588	0.028	0.0202	5008	,	,		20431	0.0069		0.008	False		,,,				2504	0.0644					dbGAP											0													47.0	47.0	47.0					7																	100637242		561	1280	1841	-	-	-	SO:0001583	missense	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.3827G>A	7.37:g.100637242G>A	ENSP00000368755:p.Arg1276His		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.R1276H	ENST00000379442.3	37	c.3827		7	.	.	.	.	.	.	.	.	.	.	-	0.675	-0.800370	0.02841	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.13657	2.57;2.57	0.713	-1.43	0.08884	.	.	.	.	.	T	0.04952	0.0133	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.32824	-0.9892	6	0.34782	T	0.22	.	.	.	.	rs10248292	.	.	.	H	1276;1133	ENSP00000368755:R1276H;ENSP00000441929:R1133H	ENSP00000368755:R1276H	R	+	2	0	MUC12	100423962	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-0.395000	0.07287	-1.562000	0.01682	-1.109000	0.02080	CGT	MUC12	-	NULL	ENSG00000205277		0.587	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	27	0.00	0	G	XM_379904		100637242	100637242	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	missense	65	19.75	16	SNP	0.001	A
C7orf55-LUC7L2	100996928	genome.wustl.edu	37	7	139094326	139094326	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1JM-01A-11D-A13L-09	TCGA-D8-A1JM-10A-01D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f66d4178-34f3-4f5d-aa0a-7fdd03801033	cc160618-dacb-4809-92d6-78503671cd60	g.chr7:139094326G>C	ENST00000354926.4	+	7	1059	c.705G>C	c.(703-705)aaG>aaC	p.K235N	C7orf55-LUC7L2_ENST00000541170.3_Missense_Mutation_p.K232N|LUC7L2_ENST00000541515.3_Missense_Mutation_p.K301N|C7orf55-LUC7L2_ENST00000263545.6_Missense_Mutation_p.K234N	NM_001270643.1|NM_016019.4	NP_001257572.1|NP_057103.2			C7orf55-LUC7L2 readthrough																		TAGCTGAGAAGCAGGAGAAAA	0.388																																						dbGAP											0													42.0	40.0	40.0					7																	139094326		1843	4089	5932	-	-	-	SO:0001583	missense	0				CCDS59084.1	7q34	2013-02-14			ENSG00000146963	ENSG00000146963			44671	other	readthrough							Standard	NM_001244584		Approved		uc011kqt.3		OTTHUMG00000151717	ENST00000354926.4:c.705G>C	7.37:g.139094326G>C	ENSP00000347005:p.Lys235Asn			Missense_Mutation	SNP	pfam_LUC7-rel	p.K301N	ENST00000354926.4	37	c.903	CCDS43656.1	7	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377418	0.61735	.	.	ENSG00000146963	ENST00000541170;ENST00000541515;ENST00000545899;ENST00000354926;ENST00000263545	T;T;T;T	0.50277	1.61;1.61;1.61;0.75	4.89	2.98	0.34508	.	0.144834	0.64402	D	0.000013	T	0.53190	0.1781	L	0.39514	1.22	0.58432	D	0.999990	D;D;D;D	0.62365	0.991;0.991;0.968;0.991	D;D;D;D	0.76071	0.987;0.987;0.978;0.987	T	0.61272	-0.7096	9	0.40728	T	0.16	-16.5026	7.1728	0.25728	0.3646:0.0:0.6354:0.0	.	301;232;234;235	B7Z4Q3;B7Z500;Q9Y383-2;Q9Y383	.;.;.;LC7L2_HUMAN	N	232;301;235;235;234	ENSP00000441604:K232N;ENSP00000440222:K301N;ENSP00000347005:K235N;ENSP00000263545:K234N	ENSP00000263545:K234N	K	+	3	2	LUC7L2	138744866	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.487000	0.45268	1.100000	0.41517	0.544000	0.68410	AAG	LUC7L2	-	pfam_LUC7-rel	ENSG00000146963		0.388	C7orf55-LUC7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LUC7L2	HGNC	protein_coding	OTTHUMT00000323618.2	79	0.00	0	G			139094326	139094326	+1	no_errors	ENST00000541515	ensembl	human	known	69_37n	missense	56	44.55	45	SNP	1.000	C
MYH1	4619	genome.wustl.edu	37	17	10419585	10419585	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1JM-01A-11D-A13L-09	TCGA-D8-A1JM-10A-01D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f66d4178-34f3-4f5d-aa0a-7fdd03801033	cc160618-dacb-4809-92d6-78503671cd60	g.chr17:10419585C>A	ENST00000226207.5	-	4	373	c.279G>T	c.(277-279)atG>atT	p.M93I	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	93	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GATGAGTCATCATGGCCATGT	0.493																																						dbGAP											0													288.0	254.0	266.0					17																	10419585		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.279G>T	17.37:g.10419585C>A	ENSP00000226207:p.Met93Ile		Q14CA4|Q9Y622	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.M93I	ENST00000226207.5	37	c.279	CCDS11155.1	17	.	.	.	.	.	.	.	.	.	.	C	20.9	4.058789	0.76074	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	D	0.87412	-2.25	5.39	5.39	0.77823	Myosin head, motor domain (2);	0.000000	0.52532	U	0.000072	D	0.91673	0.7368	M	0.93808	3.46	0.80722	D	1	B	0.16396	0.017	B	0.24848	0.056	D	0.89701	0.3905	10	0.62326	D	0.03	.	19.3405	0.94339	0.0:1.0:0.0:0.0	.	93	P12882	MYH1_HUMAN	I	93	ENSP00000226207:M93I	ENSP00000226207:M93I	M	-	3	0	MYH1	10360310	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.641000	0.83368	2.791000	0.96007	0.655000	0.94253	ATG	MYH1	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000109061		0.493	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1	333	0.00	0	C	NM_005963		10419585	10419585	-1	no_errors	ENST00000226207	ensembl	human	known	69_37n	missense	310	39.22	200	SNP	1.000	A
MYT1	4661	genome.wustl.edu	37	20	62863610	62863612	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-D8-A1JM-01A-11D-A13L-09	TCGA-D8-A1JM-10A-01D-A188-09	GCA	GCA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f66d4178-34f3-4f5d-aa0a-7fdd03801033	cc160618-dacb-4809-92d6-78503671cd60	g.chr20:62863610_62863612delGCA	ENST00000328439.1	+	19	3133_3135	c.2769_2771delGCA	c.(2767-2772)aggcag>agg	p.Q924del	MYT1_ENST00000536311.1_In_Frame_Del_p.Q951del	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CCGCCCGCAGGCAGAAGGAAGGG	0.65																																					GBM(59;481 1041 20555 21139 33705)	dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.2769_2771delGCA	20.37:g.62863610_62863612delGCA	ENSP00000327465:p.Gln924del		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	In_Frame_Del	DEL	pfam_Myelin_TF,pfam_Znf_C2HC	p.Q951in_frame_del	ENST00000328439.1	37	c.2850_2852	CCDS13558.1	20																																																																																			MYT1	-	NULL	ENSG00000196132		0.650	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYT1	HGNC	protein_coding	OTTHUMT00000080297.1	61	0.00	0	GCA	NM_004535		62863610	62863612	+1	no_errors	ENST00000536311	ensembl	human	known	69_37n	in_frame_del	5	71.43	15	DEL	1.000:1.000:1.000	-
NEUROD4	58158	genome.wustl.edu	37	12	55420713	55420713	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A1JM-01A-11D-A13L-09	TCGA-D8-A1JM-10A-01D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f66d4178-34f3-4f5d-aa0a-7fdd03801033	cc160618-dacb-4809-92d6-78503671cd60	g.chr12:55420713C>T	ENST00000242994.3	+	2	868	c.490C>T	c.(490-492)Cag>Tag	p.Q164*		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	164					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						AGGGCTCTCTCAGCCCACAAG	0.522																																						dbGAP											0													53.0	56.0	55.0					12																	55420713		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"""Basic helix-loop-helix proteins"""	13802	protein-coding gene	gene with protein product		611635	"""neurogenic differentiation 4"""				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.490C>T	12.37:g.55420713C>T	ENSP00000242994:p.Gln164*		B2RAC9	Nonsense_Mutation	SNP	pfam_Neurogenic_DUF,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pirsf_TF_bHLH_NeuroD,pfscan_HLH_DNA-bd	p.Q164*	ENST00000242994.3	37	c.490	CCDS8886.1	12	.	.	.	.	.	.	.	.	.	.	C	39	7.690740	0.98434	.	.	ENSG00000123307	ENST00000242994	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	0.0035	17.4011	0.87459	0.0:1.0:0.0:0.0	.	.	.	.	X	164	.	ENSP00000242994:Q164X	Q	+	1	0	NEUROD4	53706980	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.774000	0.95407	0.655000	0.94253	CAG	NEUROD4	-	pfam_Neurogenic_DUF,superfamily_HLH_DNA-bd,pirsf_TF_bHLH_NeuroD	ENSG00000123307		0.522	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROD4	HGNC	protein_coding	OTTHUMT00000406104.1	44	0.00	0	C			55420713	55420713	+1	no_errors	ENST00000242994	ensembl	human	known	69_37n	nonsense	28	39.13	18	SNP	1.000	T
NFX1	4799	genome.wustl.edu	37	9	33364082	33364082	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1JM-01A-11D-A13L-09	TCGA-D8-A1JM-10A-01D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f66d4178-34f3-4f5d-aa0a-7fdd03801033	cc160618-dacb-4809-92d6-78503671cd60	g.chr9:33364082G>T	ENST00000379540.3	+	20	3010	c.2948G>T	c.(2947-2949)aGt>aTt	p.S983I	NFX1_ENST00000379521.4_Missense_Mutation_p.S983I	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	983					inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		TCAAAATTCAGTGATAGTTTG	0.378																																						dbGAP											0													156.0	140.0	145.0					9																	33364082		2203	4300	6503	-	-	-	SO:0001583	missense	0			U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.2948G>T	9.37:g.33364082G>T	ENSP00000368856:p.Ser983Ile		A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Missense_Mutation	SNP	pfam_Znf_NFX1,pfam_R3H_ss-bd,smart_Znf_RING,smart_Znf_NFX1,smart_R3H_ss-bd,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_R3H_ss-bd	p.S983I	ENST00000379540.3	37	c.2948	CCDS6538.1	9	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247704	0.80024	.	.	ENSG00000086102	ENST00000379540;ENST00000379521	T;T	0.49720	0.77;1.59	6.08	6.08	0.98989	Single-stranded nucleic acid binding R3H (1);	0.129865	0.64402	D	0.000001	T	0.69788	0.3150	M	0.84585	2.705	0.80722	D	1	P;D	0.71674	0.633;0.998	B;D	0.65010	0.184;0.931	T	0.73802	-0.3868	10	0.87932	D	0	-6.3213	13.7135	0.62682	0.0:0.1541:0.8458:0.0	.	983;983	Q12986;Q12986-2	NFX1_HUMAN;.	I	983	ENSP00000368856:S983I;ENSP00000368836:S983I	ENSP00000368836:S983I	S	+	2	0	NFX1	33354082	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.804000	0.62554	2.894000	0.99253	0.591000	0.81541	AGT	NFX1	-	smart_R3H_ss-bd	ENSG00000086102		0.378	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFX1	HGNC	protein_coding	OTTHUMT00000052069.1	144	0.00	0	G			33364082	33364082	+1	no_errors	ENST00000379540	ensembl	human	known	69_37n	missense	33	77.24	112	SNP	1.000	T
NLGN1	22871	genome.wustl.edu	37	3	173322406	173322406	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D8-A1JM-01A-11D-A13L-09	TCGA-D8-A1JM-10A-01D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f66d4178-34f3-4f5d-aa0a-7fdd03801033	cc160618-dacb-4809-92d6-78503671cd60	g.chr3:173322406C>A	ENST00000457714.1	+	3	447	c.18C>A	c.(16-18)tgC>tgA	p.C6*	NLGN1_ENST00000361589.4_Nonsense_Mutation_p.C6*|NLGN1_ENST00000401917.3_Nonsense_Mutation_p.C6*|NLGN1_ENST00000545397.1_Nonsense_Mutation_p.C6*	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	6					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TGCCCAGATGCACGTGGCCAA	0.473																																						dbGAP											0													240.0	225.0	230.0					3																	173322406		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.18C>A	3.37:g.173322406C>A	ENSP00000392500:p.Cys6*		Q9UPT2	Nonsense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.C6*	ENST00000457714.1	37	c.18	CCDS3222.1	3	.	.	.	.	.	.	.	.	.	.	C	38	6.647036	0.97730	.	.	ENSG00000169760	ENST00000423427;ENST00000413821;ENST00000457714;ENST00000361589;ENST00000415045;ENST00000545397;ENST00000401917	.	.	.	5.62	5.62	0.85841	.	0.104145	0.42964	D	0.000639	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	14.8154	0.70031	0.144:0.856:0.0:0.0	.	.	.	.	X	6	.	ENSP00000354541:C6X	C	+	3	2	NLGN1	174805100	1.000000	0.71417	0.998000	0.56505	0.491000	0.33493	3.829000	0.55760	2.809000	0.96659	0.467000	0.42956	TGC	NLGN1	-	NULL	ENSG00000169760		0.473	NLGN1-001	KNOWN	basic|CCDS	protein_coding	NLGN1	HGNC	protein_coding	OTTHUMT00000347054.3	136	0.00	0	C	NM_014932		173322406	173322406	+1	no_errors	ENST00000401917	ensembl	human	known	69_37n	nonsense	78	62.32	129	SNP	1.000	A
NOS3	4846	genome.wustl.edu	37	7	150697610	150697610	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1JM-01A-11D-A13L-09	TCGA-D8-A1JM-10A-01D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f66d4178-34f3-4f5d-aa0a-7fdd03801033	cc160618-dacb-4809-92d6-78503671cd60	g.chr7:150697610G>T	ENST00000484524.1	+	9	1156	c.1156G>T	c.(1156-1158)Gat>Tat	p.D386Y	NOS3_ENST00000461406.1_Missense_Mutation_p.D180Y|NOS3_ENST00000297494.3_Missense_Mutation_p.D386Y|NOS3_ENST00000467517.1_Missense_Mutation_p.D386Y	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATGGACCTGGATACCCGGAC	0.602																																						dbGAP											0													120.0	91.0	101.0					7																	150697610		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1156G>T	7.37:g.150697610G>T	ENSP00000420215:p.Asp386Tyr		Q495E5	Missense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.D386Y	ENST00000484524.1	37	c.1156	CCDS55182.1	7	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656515	0.88154	.	.	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	T;T;T;T	0.27720	1.65;1.65;1.65;1.65	5.35	5.35	0.76521	Nitric oxide synthase, oxygenase domain (2);	0.000000	0.64402	D	0.000015	T	0.67439	0.2893	H	0.94462	3.54	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.993;1.0	D;D;D;D;D	0.85130	0.997;0.995;0.994;0.948;0.995	T	0.77613	-0.2522	10	0.87932	D	0	-18.6549	16.5858	0.84727	0.0:0.0:1.0:0.0	.	386;386;386;180;386	A0S0A6;E9PFR2;A0S0A8;E7ESA7;P29474	.;.;.;.;NOS3_HUMAN	Y	386;180;386;386	ENSP00000297494:D386Y;ENSP00000417143:D180Y;ENSP00000420215:D386Y;ENSP00000420551:D386Y	ENSP00000297494:D386Y	D	+	1	0	NOS3	150328543	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.741000	0.98843	2.503000	0.84419	0.655000	0.94253	GAT	NOS3	-	pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_met	ENSG00000164867		0.602	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS3	HGNC	protein_coding	OTTHUMT00000351550.1	61	0.00	0	G	NM_000603		150697610	150697610	+1	no_errors	ENST00000297494	ensembl	human	known	69_37n	missense	60	37.50	36	SNP	1.000	T
OR2T10	127069	genome.wustl.edu	37	1	248756685	248756685	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1JM-01A-11D-A13L-09	TCGA-D8-A1JM-10A-01D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f66d4178-34f3-4f5d-aa0a-7fdd03801033	cc160618-dacb-4809-92d6-78503671cd60	g.chr1:248756685G>T	ENST00000330500.2	-	1	415	c.385C>A	c.(385-387)Cct>Act	p.P129T	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TAACGGAGAGGATGGCAGATA	0.562																																						dbGAP											0													102.0	107.0	106.0					1																	248756685		2047	4237	6284	-	-	-	SO:0001583	missense	0				CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"""GPCR / Class A : Olfactory receptors"""	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.385C>A	1.37:g.248756685G>T	ENSP00000329210:p.Pro129Thr		B2RNK7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.P129T	ENST00000330500.2	37	c.385	CCDS31121.1	1	.	.	.	.	.	.	.	.	.	.	.	12.46	1.945281	0.34283	.	.	ENSG00000184022	ENST00000330500	T	0.01887	4.58	2.35	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.21631	0.0521	H	0.98682	4.3	0.33292	D	0.563646	D	0.89917	1.0	D	0.97110	1.0	T	0.53201	-0.8472	9	0.87932	D	0	.	11.4637	0.50225	0.0:0.0:1.0:0.0	.	129	Q8NGZ9	O2T10_HUMAN	T	129	ENSP00000329210:P129T	ENSP00000329210:P129T	P	-	1	0	OR2T10	246823308	1.000000	0.71417	0.388000	0.26195	0.055000	0.15305	7.313000	0.78978	1.123000	0.41961	0.447000	0.29281	CCT	OR2T10	-	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000184022		0.562	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T10	HGNC	protein_coding	OTTHUMT00000097139.1	102	0.00	0	G	NM_001004693		248756685	248756685	-1	no_errors	ENST00000330500	ensembl	human	known	69_37n	missense	173	22.32	50	SNP	0.996	T
PIWIL3	440822	genome.wustl.edu	37	22	25131779	25131779	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1JM-01A-11D-A13L-09	TCGA-D8-A1JM-10A-01D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f66d4178-34f3-4f5d-aa0a-7fdd03801033	cc160618-dacb-4809-92d6-78503671cd60	g.chr22:25131779C>A	ENST00000332271.5	-	13	1946	c.1530G>T	c.(1528-1530)tgG>tgT	p.W510C	PIWIL3_ENST00000533313.1_Missense_Mutation_p.W401C|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.W401C	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	510					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AGAGTATGAGCCAACTATGTA	0.428																																						dbGAP											0													213.0	207.0	209.0					22																	25131779		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.1530G>T	22.37:g.25131779C>A	ENSP00000330031:p.Trp510Cys			Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.W510C	ENST00000332271.5	37	c.1530	CCDS33623.1	22	.	.	.	.	.	.	.	.	.	.	C	13.56	2.272310	0.40194	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.07800	3.16;3.16;3.16	1.85	1.85	0.25348	Ribonuclease H-like (1);	0.000000	0.85682	U	0.000000	T	0.20941	0.0504	L	0.60067	1.865	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.978;0.999	T	0.01232	-1.1411	10	0.87932	D	0	-9.4452	9.6929	0.40139	0.0:1.0:0.0:0.0	.	401;510;510	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	C	510;401;401	ENSP00000330031:W510C;ENSP00000431843:W401C;ENSP00000435718:W401C	ENSP00000330031:W510C	W	-	3	0	PIWIL3	23461779	0.999000	0.42202	0.019000	0.16419	0.050000	0.14768	5.260000	0.65490	1.338000	0.45544	0.313000	0.20887	TGG	PIWIL3	-	superfamily_RNaseH-like_dom	ENSG00000184571		0.428	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL3	HGNC	protein_coding	OTTHUMT00000320084.2	160	0.00	0	C	NM_001008496		25131779	25131779	-1	no_errors	ENST00000332271	ensembl	human	known	69_37n	missense	33	65.62	63	SNP	0.944	A
RALGAPB	57148	genome.wustl.edu	37	20	37177429	37177429	+	Silent	SNP	A	A	T			TCGA-D8-A1JM-01A-11D-A13L-09	TCGA-D8-A1JM-10A-01D-A188-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f66d4178-34f3-4f5d-aa0a-7fdd03801033	cc160618-dacb-4809-92d6-78503671cd60	g.chr20:37177429A>T	ENST00000262879.6	+	20	3284	c.3000A>T	c.(2998-3000)gcA>gcT	p.A1000A	RALGAPB_ENST00000397042.3_Silent_p.A996A|RALGAPB_ENST00000397038.1_Silent_p.A778A|RALGAPB_ENST00000397040.1_Silent_p.A1000A			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1000					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GAGCAAAAGCAAATCAGAAGG	0.408																																						dbGAP											0													87.0	87.0	87.0					20																	37177429		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.3000A>T	20.37:g.37177429A>T			A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Silent	SNP	superfamily_ARM-type_fold,pfscan_Rap_GAP	p.A1000	ENST00000262879.6	37	c.3000	CCDS13305.1	20																																																																																			RALGAPB	-	NULL	ENSG00000170471		0.408	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	RALGAPB	HGNC	protein_coding	OTTHUMT00000079191.1	100	0.00	0	A	NM_020336		37177429	37177429	+1	no_errors	ENST00000262879	ensembl	human	known	69_37n	silent	87	39.58	57	SNP	0.996	T
SLC5A11	115584	genome.wustl.edu	37	16	24921651	24921651	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JM-01A-11D-A13L-09	TCGA-D8-A1JM-10A-01D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f66d4178-34f3-4f5d-aa0a-7fdd03801033	cc160618-dacb-4809-92d6-78503671cd60	g.chr16:24921651C>T	ENST00000347898.3	+	15	2297	c.1675C>T	c.(1675-1677)Cgt>Tgt	p.R559C	SLC5A11_ENST00000539472.1_Missense_Mutation_p.R495C|SLC5A11_ENST00000424767.2_Missense_Mutation_p.R524C|SLC5A11_ENST00000568579.1_Missense_Mutation_p.R489C|SLC5A11_ENST00000545376.1_Missense_Mutation_p.R489C|SLC5A11_ENST00000567758.1_Missense_Mutation_p.R524C|SLC5A11_ENST00000565769.1_Missense_Mutation_p.R495C|SLC5A11_ENST00000569071.1_Missense_Mutation_p.R403C|SLC5A11_ENST00000449109.2_Missense_Mutation_p.R403C	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CTGGTTTACTCGTCACGACCC	0.582																																						dbGAP											0													152.0	128.0	136.0					16																	24921651		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.1675C>T	16.37:g.24921651C>T	ENSP00000289932:p.Arg559Cys			Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.R559C	ENST00000347898.3	37	c.1675	CCDS10625.1	16	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463900	0.63513	.	.	ENSG00000158865	ENST00000347898;ENST00000449109;ENST00000424767;ENST00000545376;ENST00000539472	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	5.5	4.55	0.56014	.	0.098617	0.64402	D	0.000002	T	0.73369	0.3578	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.89917	0.998;0.999;0.998;1.0	P;P;P;D	0.64506	0.817;0.885;0.77;0.926	T	0.75657	-0.3242	10	0.87932	D	0	.	9.2544	0.37575	0.0:0.9044:0.0:0.0956	.	489;524;559;403	B7Z329;Q8WWX8-2;Q8WWX8;Q05BF1	.;.;SC5AB_HUMAN;.	C	559;403;524;489;495	ENSP00000289932:R559C;ENSP00000389606:R403C;ENSP00000416782:R524C;ENSP00000441384:R489C;ENSP00000441018:R495C	ENSP00000289932:R559C	R	+	1	0	SLC5A11	24829152	0.984000	0.35163	0.998000	0.56505	0.517000	0.34286	1.708000	0.37899	2.580000	0.87095	0.514000	0.50259	CGT	SLC5A11	-	NULL	ENSG00000158865		0.582	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A11	HGNC	protein_coding	OTTHUMT00000214091.3	79	0.00	0	C	NM_052944		24921651	24921651	+1	no_errors	ENST00000347898	ensembl	human	known	69_37n	missense	118	32.95	58	SNP	0.996	T
STK11	6794	genome.wustl.edu	37	19	1218492	1218492	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A1JM-01A-11D-A13L-09	TCGA-D8-A1JM-10A-01D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f66d4178-34f3-4f5d-aa0a-7fdd03801033	cc160618-dacb-4809-92d6-78503671cd60	g.chr19:1218492C>T	ENST00000326873.7	+	2	1540	c.367C>T	c.(367-369)Cag>Tag	p.Q123*	STK11_ENST00000585748.1_3'UTR	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	123	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		Q -> R (in sporadic cancer; somatic mutation; no effect on kinase activity nor in heterotrimeric complex assembly with STRADA and CAB39).		activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.?(3)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CGAAGAGAAGCAGAAAATATA	0.577		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																												dbGAP	yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		"""E, M, O"""	23	Whole gene deletion(20)|Unknown(2)|Deletion - Frameshift(1)	cervix(15)|lung(4)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)	GRCh37	CM041078	STK11	M							154.0	156.0	155.0					19																	1218492		1925	4135	6060	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.367C>T	19.37:g.1218492C>T	ENSP00000324856:p.Gln123*		B2RBX7|E7EW76	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q123*	ENST00000326873.7	37	c.367	CCDS45896.1	19	.	.	.	.	.	.	.	.	.	.	C	47	13.792840	0.99763	.	.	ENSG00000118046	ENST00000326873;ENST00000405031	.	.	.	4.1	4.1	0.47936	.	0.134049	0.52532	D	0.000079	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-33.9956	15.3205	0.74117	0.0:1.0:0.0:0.0	.	.	.	.	X	123	.	ENSP00000324856:Q123X	Q	+	1	0	STK11	1169492	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.621000	0.83083	1.846000	0.53633	0.491000	0.48974	CAG	STK11	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000118046		0.577	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	STK11	HGNC	protein_coding	OTTHUMT00000449839.3	91	0.00	0	C	NM_000455		1218492	1218492	+1	no_errors	ENST00000326873	ensembl	human	known	69_37n	nonsense	12	76.92	40	SNP	1.000	T
TP53	7157	genome.wustl.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-D8-A1JM-01A-11D-A13L-09	TCGA-D8-A1JM-10A-01D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f66d4178-34f3-4f5d-aa0a-7fdd03801033	cc160618-dacb-4809-92d6-78503671cd60	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576						67.0	58.0	61.0					17																	7577120		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R273H	ENST00000269305.4	37	c.818	CCDS11118.1	17	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	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	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	102	0.00	0	C	NM_000546		7577120	7577120	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	30	65.56	59	SNP	0.864	T
TRDN	10345	genome.wustl.edu	37	6	123892166	123892166	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1JM-01A-11D-A13L-09	TCGA-D8-A1JM-10A-01D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f66d4178-34f3-4f5d-aa0a-7fdd03801033	cc160618-dacb-4809-92d6-78503671cd60	g.chr6:123892166C>T	ENST00000398178.3	-	2	155	c.134G>A	c.(133-135)aGc>aAc	p.S45N	TRDN_ENST00000334268.4_Missense_Mutation_p.S45N|TRDN_ENST00000542443.1_Missense_Mutation_p.S45N|TRDN_ENST00000546248.1_Missense_Mutation_p.S45N	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	45					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TGCAGGGGAGCTGAACGTCGT	0.468																																						dbGAP											0													111.0	116.0	114.0					6																	123892166		2049	4199	6248	-	-	-	SO:0001583	missense	0			U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.134G>A	6.37:g.123892166C>T	ENSP00000381240:p.Ser45Asn		A5D6W5|F5H2W7|Q6NSB8	Missense_Mutation	SNP	pfam_Asp-B-hydro/Triadin_dom	p.S45N	ENST00000398178.3	37	c.134	CCDS55053.1	6	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316916	0.60524	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268;ENST00000542014;ENST00000543022;ENST00000546248;ENST00000542443	T;T;T;T	0.72051	1.39;1.39;1.31;-0.62	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.81206	0.4774	M	0.81239	2.535	0.35951	D	0.833909	D;D;D;D;D	0.89917	0.996;0.996;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.986;0.986;0.998;0.998;0.998	D	0.84283	0.0495	10	0.72032	D	0.01	-5.1293	13.3189	0.60423	0.0:0.9279:0.0:0.0721	.	45;45;45;45;45	F5H6E3;F5H2W7;Q5SWK9;Q8IVK2;Q13061	.;.;.;.;TRDN_HUMAN	N	45	ENSP00000381240:S45N;ENSP00000333984:S45N;ENSP00000439281:S45N;ENSP00000437684:S45N	ENSP00000333984:S45N	S	-	2	0	TRDN	123933865	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	2.475000	0.45162	2.753000	0.94483	0.557000	0.71058	AGC	TRDN	-	NULL	ENSG00000186439		0.468	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRDN	HGNC	protein_coding		55	0.00	0	C			123892166	123892166	-1	no_errors	ENST00000398178	ensembl	human	known	69_37n	missense	73	34.82	39	SNP	1.000	T
USP25	29761	genome.wustl.edu	37	21	17242407	17242407	+	Silent	SNP	G	G	A			TCGA-D8-A1JM-01A-11D-A13L-09	TCGA-D8-A1JM-10A-01D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f66d4178-34f3-4f5d-aa0a-7fdd03801033	cc160618-dacb-4809-92d6-78503671cd60	g.chr21:17242407G>A	ENST00000285679.6	+	21	2985	c.2616G>A	c.(2614-2616)agG>agA	p.R872R	USP25_ENST00000351097.5_Silent_p.R267R|USP25_ENST00000400183.2_Silent_p.R942R|USP25_ENST00000285681.2_Silent_p.R904R	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	872					cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		AGGATTATAGGAAATTCAGGG	0.308																																						dbGAP											0													87.0	98.0	95.0					21																	17242407		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0			AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.2616G>A	21.37:g.17242407G>A			C0LSZ0|Q6DHZ9|Q9H9W1	Missense_Mutation	SNP	NULL	p.G171E	ENST00000285679.6	37	c.512	CCDS33515.1	21	.	.	.	.	.	.	.	.	.	.	G	9.761	1.169960	0.21621	.	.	ENSG00000155313	ENST00000449491	.	.	.	5.71	-0.577	0.11727	.	.	.	.	.	T	0.58337	0.2115	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52147	-0.8614	4	.	.	.	.	11.2709	0.49138	0.6251:0.0:0.3749:0.0	.	.	.	.	E	171	.	.	G	+	2	0	USP25	16164278	0.993000	0.37304	0.944000	0.38274	0.997000	0.91878	0.317000	0.19487	-0.427000	0.07350	0.591000	0.81541	GGA	USP25	-	NULL	ENSG00000155313		0.308	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USP25	HGNC	protein_coding	OTTHUMT00000157964.1	65	0.00	0	G			17242407	17242407	+1	no_start_codon:pseudogene:no_stop_codon	ENST00000449491	ensembl	human	putative	69_37n	missense	39	30.36	17	SNP	0.924	A
WDR27	253769	genome.wustl.edu	37	6	170070709	170070709	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1JM-01A-11D-A13L-09	TCGA-D8-A1JM-10A-01D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f66d4178-34f3-4f5d-aa0a-7fdd03801033	cc160618-dacb-4809-92d6-78503671cd60	g.chr6:170070709C>A	ENST00000448612.1	-	4	521	c.412G>T	c.(412-414)Gtt>Ttt	p.V138F	WDR27_ENST00000333572.6_Missense_Mutation_p.V138F|WDR27_ENST00000423258.1_Intron|WDR27_ENST00000420344.2_Missense_Mutation_p.V138F	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	138						nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CACACGGCAACAACATGATCA	0.483																																						dbGAP											0													120.0	120.0	120.0					6																	170070709		1948	4155	6103	-	-	-	SO:0001583	missense	0			AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"""WD repeat domain containing"""	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.412G>T	6.37:g.170070709C>A	ENSP00000416289:p.Val138Phe		A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V138F	ENST00000448612.1	37	c.412	CCDS47520.2	6	.	.	.	.	.	.	.	.	.	.	C	15.40	2.823750	0.50739	.	.	ENSG00000184465	ENST00000448612;ENST00000333572;ENST00000420344	T;T;T	0.70282	0.88;1.15;-0.47	5.52	-1.9	0.07665	.	0.250343	0.31438	N	0.007649	T	0.53270	0.1786	M	0.66939	2.045	0.09310	N	1	P;P	0.49783	0.808;0.928	B;P	0.48921	0.216;0.595	T	0.57225	-0.7848	10	0.51188	T	0.08	-4.2822	7.2193	0.25977	0.0:0.5047:0.1046:0.3907	.	138;138	F2Z2U5;C9JGV0	.;.	F	138	ENSP00000416289:V138F;ENSP00000330265:V138F;ENSP00000406114:V138F	ENSP00000330265:V138F	V	-	1	0	WDR27	169812634	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.075000	0.11431	-0.456000	0.07043	-0.424000	0.05967	GTT	WDR27	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000184465		0.483	WDR27-010	KNOWN	basic|CCDS	protein_coding	WDR27	HGNC	protein_coding	OTTHUMT00000407334.1	63	0.00	0	C	NM_182552		170070709	170070709	-1	no_errors	ENST00000448612	ensembl	human	known	69_37n	missense	78	42.65	58	SNP	0.000	A
XAB2	56949	genome.wustl.edu	37	19	7688749	7688749	+	Silent	SNP	C	C	G			TCGA-D8-A1JM-01A-11D-A13L-09	TCGA-D8-A1JM-10A-01D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f66d4178-34f3-4f5d-aa0a-7fdd03801033	cc160618-dacb-4809-92d6-78503671cd60	g.chr19:7688749C>G	ENST00000358368.4	-	8	1024	c.987G>C	c.(985-987)ctG>ctC	p.L329L	XAB2_ENST00000534844.1_Silent_p.L326L	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	329					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						GGGCCAGGCGCAGCTCCAGGT	0.662								Direct reversal of damage;Nucleotide excision repair (NER)																														dbGAP											0													25.0	25.0	25.0					19																	7688749		2196	4290	6486	-	-	-	SO:0001819	synonymous_variant	0			AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.987G>C	19.37:g.7688749C>G			Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Silent	SNP	smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L329	ENST00000358368.4	37	c.987	CCDS32892.1	19																																																																																			XAB2	-	NULL	ENSG00000076924		0.662	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XAB2	HGNC	protein_coding	OTTHUMT00000461021.1	37	0.00	0	C	NM_020196		7688749	7688749	-1	no_errors	ENST00000358368	ensembl	human	known	69_37n	silent	17	39.29	11	SNP	0.997	G
YY1AP1	55249	genome.wustl.edu	37	1	155630341	155630341	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1JM-01A-11D-A13L-09	TCGA-D8-A1JM-10A-01D-A188-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f66d4178-34f3-4f5d-aa0a-7fdd03801033	cc160618-dacb-4809-92d6-78503671cd60	g.chr1:155630341T>C	ENST00000295566.4	-	11	1521	c.1498A>G	c.(1498-1500)Ata>Gta	p.I500V	MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000311573.5_Missense_Mutation_p.I423V|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000368340.5_Missense_Mutation_p.I572V|YY1AP1_ENST00000404643.1_Missense_Mutation_p.I434V|YY1AP1_ENST00000359205.5_Missense_Mutation_p.I443V|YY1AP1_ENST00000535662.1_Missense_Mutation_p.I300V|YY1AP1_ENST00000368330.2_Missense_Mutation_p.I454V|YY1AP1_ENST00000368339.5_Missense_Mutation_p.I592V|YY1AP1_ENST00000355499.4_Missense_Mutation_p.I454V|YY1AP1_ENST00000407221.1_Missense_Mutation_p.I423V|YY1AP1_ENST00000347088.5_Missense_Mutation_p.I454V|YY1AP1_ENST00000361831.5_Missense_Mutation_p.I443V	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	500					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GCTGGCTGTATTGGGTGAGGA	0.562																																						dbGAP											0													41.0	49.0	46.0					1																	155630341		2203	4297	6500	-	-	-	SO:0001583	missense	0			BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.1498A>G	1.37:g.155630341T>C	ENSP00000295566:p.Ile500Val		B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	NULL	p.I592V	ENST00000295566.4	37	c.1774	CCDS1115.1	1	.	.	.	.	.	.	.	.	.	.	c	4.521	0.096688	0.08681	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000535662	T;T;T;T;T;T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69	2.53	1.35	0.21983	.	0.077465	0.52532	D	0.000066	T	0.35393	0.0930	L	0.42245	1.32	0.58432	D	0.999998	B;P;B;P;D	0.56968	0.025;0.948;0.103;0.763;0.978	B;D;B;P;P	0.67103	0.032;0.949;0.271;0.58;0.697	T	0.21793	-1.0235	10	0.20519	T	0.43	.	5.7224	0.17995	0.0:0.24:0.0:0.76	.	592;434;500;454;572	B4DMP2;Q9H869-4;Q9H869;Q9H869-2;Q5VYZ1	.;.;YYAP1_HUMAN;.;.	V	443;454;423;454;443;572;500;454;423;434;592;300	ENSP00000352134:I443V;ENSP00000347686:I454V;ENSP00000311138:I423V;ENSP00000316079:I454V;ENSP00000355298:I443V;ENSP00000357324:I572V;ENSP00000295566:I500V;ENSP00000357314:I454V;ENSP00000385791:I423V;ENSP00000385390:I434V;ENSP00000357323:I592V;ENSP00000437926:I300V	ENSP00000295566:I500V	I	-	1	0	YY1AP1	153896965	0.558000	0.26554	0.169000	0.22859	0.019000	0.09904	0.664000	0.25068	0.222000	0.20900	-0.850000	0.03035	ATA	YY1AP1	-	NULL	ENSG00000163374		0.562	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	YY1AP1	HGNC	protein_coding	OTTHUMT00000086027.1	100	0.00	0	T	NM_139118		155630341	155630341	-1	no_errors	ENST00000368339	ensembl	human	known	69_37n	missense	114	27.39	43	SNP	0.784	C
ZC3H12B	340554	genome.wustl.edu	37	X	64721696	64721696	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1JM-01A-11D-A13L-09	TCGA-D8-A1JM-10A-01D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f66d4178-34f3-4f5d-aa0a-7fdd03801033	cc160618-dacb-4809-92d6-78503671cd60	g.chrX:64721696G>A	ENST00000338957.4	+	5	1185	c.1118G>A	c.(1117-1119)tGc>tAc	p.C373Y	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.C362Y	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	373							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGCCACAAGTGCAAATACTAC	0.493																																						dbGAP											0													19.0	19.0	19.0					X																	64721696		1931	4108	6039	-	-	-	SO:0001583	missense	0			BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.1118G>A	X.37:g.64721696G>A	ENSP00000340839:p.Cys373Tyr		B2RTQ3|E9PAJ6|Q5H9C0	Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.C373Y	ENST00000338957.4	37	c.1118	CCDS48131.2	X	.	.	.	.	.	.	.	.	.	.	G	16.74	3.206524	0.58343	.	.	ENSG00000102053	ENST00000338957;ENST00000423889;ENST00000218172	T;T	0.72942	-0.7;-0.67	5.0	5.0	0.66597	Zinc finger, CCCH-type (1);	0.000000	0.85682	D	0.000000	D	0.86389	0.5921	M	0.88906	2.99	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.89379	0.3680	10	0.87932	D	0	-26.8557	15.8636	0.79043	0.0:0.0:1.0:0.0	.	362	Q5HYM0	ZC12B_HUMAN	Y	373;362;309	ENSP00000340839:C373Y;ENSP00000408077:C362Y	ENSP00000218172:C309Y	C	+	2	0	ZC3H12B	64638421	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.760000	0.98935	2.047000	0.60756	0.513000	0.50165	TGC	ZC3H12B	-	NULL	ENSG00000102053		0.493	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H12B	HGNC	protein_coding	OTTHUMT00000378734.2	15	0.00	0	G	XM_293334		64721696	64721696	+1	no_errors	ENST00000338957	ensembl	human	known	69_37n	missense	17	22.73	5	SNP	1.000	A
ZMYND10	51364	genome.wustl.edu	37	3	50379059	50379059	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1JM-01A-11D-A13L-09	TCGA-D8-A1JM-10A-01D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f66d4178-34f3-4f5d-aa0a-7fdd03801033	cc160618-dacb-4809-92d6-78503671cd60	g.chr3:50379059C>G	ENST00000231749.3	-	11	2465	c.1193G>C	c.(1192-1194)aGt>aCt	p.S398T	ZMYND10-AS1_ENST00000440013.1_RNA|RASSF1_ENST00000488024.1_5'Flank|ZMYND10_ENST00000490675.1_5'UTR|ZMYND10_ENST00000360165.3_Missense_Mutation_p.S393T|RASSF1_ENST00000359365.4_5'Flank|RASSF1_ENST00000357043.2_5'Flank	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	398	Interaction with LRRC6.				inner dynein arm assembly (GO:0036159)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)	centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AGCCTCTGCACTGCAGTAAGC	0.577										TSP Lung(30;0.18)																												dbGAP											0													92.0	90.0	90.0					3																	50379059		2203	4300	6503	-	-	-	SO:0001583	missense	0			U70824	CCDS2825.1	3p21.3	2014-02-03			ENSG00000004838	ENSG00000004838		"""Zinc fingers, MYND-type"""	19412	protein-coding gene	gene with protein product		607070				12629521, 23891469	Standard	NM_015896		Approved	BLU, CILD22	uc003dag.1	O75800	OTTHUMG00000156874	ENST00000231749.3:c.1193G>C	3.37:g.50379059C>G	ENSP00000231749:p.Ser398Thr		A6NK41|B3KU54|O14570|O75801|Q53FE6|Q8N4R6|Q8NDN6	Missense_Mutation	SNP	pfam_Znf_MYND,pirsf_UCP037948_Znf-MYND,pfscan_Znf_MYND	p.S398T	ENST00000231749.3	37	c.1193	CCDS2825.1	3	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999230	0.35226	.	.	ENSG00000004838	ENST00000231749;ENST00000360165	.	.	.	5.57	-2.37	0.06643	Zinc finger, MYND-type (3);	0.379646	0.34362	N	0.004025	T	0.24122	0.0584	N	0.17278	0.47	0.09310	N	1	B;B	0.27679	0.185;0.101	B;B	0.24701	0.055;0.053	T	0.23190	-1.0195	9	0.72032	D	0.01	-0.0356	12.6842	0.56938	0.0:0.5838:0.0:0.4162	.	393;398	O75800-2;O75800	.;ZMY10_HUMAN	T	398;393	.	ENSP00000231749:S398T	S	-	2	0	ZMYND10	50354063	0.306000	0.24490	0.005000	0.12908	0.608000	0.37181	1.236000	0.32683	-0.310000	0.08766	-0.150000	0.13652	AGT	ZMYND10	-	pfam_Znf_MYND,pirsf_UCP037948_Znf-MYND,pfscan_Znf_MYND	ENSG00000004838		0.577	ZMYND10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZMYND10	HGNC	protein_coding	OTTHUMT00000346376.1	97	0.00	0	C	NM_015896		50379059	50379059	-1	no_errors	ENST00000231749	ensembl	human	known	69_37n	missense	22	71.79	56	SNP	0.079	G
