#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_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_Chromosome_hg18	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_End_position_hg18	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_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	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	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ASMTL	8623	genome.wustl.edu	37	X	1546842	1546842	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chrX:1546842A>G	ENST00000381317.3	-	7	714	c.682T>C	c.(682-684)Tcc>Ccc	p.S228P	ASMTL_ENST00000534940.1_Missense_Mutation_p.S170P|ASMTL_ENST00000463763.1_5'UTR|ASMTL_ENST00000416733.2_Missense_Mutation_p.S152P|ASMTL_ENST00000381333.4_Missense_Mutation_p.S212P	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	228				S -> P (in Ref. 2; BAG63287). {ECO:0000305}.		cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCCGGGATGGAGTCGTGCTTG	0.667													a|||	457	0.091254	0.0643	0.0908	5008	,	,		15206	0.0972		0.164	False		,,,				2504	0.047															0			X						A	PRO/SER,PRO/SER,PRO/SER	266,3720		13,240,1740	46.0	55.0	52.0		508,634,682	-0.7	0.0	X	dbSNP_134	52	1340,6900		123,1094,2903	no	missense,missense,missense	ASMTL	NM_001173473.1,NM_001173474.1,NM_004192.3	74,74,74	136,1334,4643	GG,GA,AA		16.2621,6.6734,13.1359	benign,benign,benign	170/564,212/606,228/622	1546842	1606,10620	1993	4120	6113	1506842	SO:0001583	missense	8623			Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"""Pseudoautosomal regions / PAR1"""	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.682T>C	X.37:g.1546842A>G	ENSP00000370718:p.Ser228Pro		1506842	B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Missense_Mutation	SNP	"superfamily_Maf/Ham1,HMMPfam_Maf,superfamily_""Winged helix"" DNA-binding domain,HMMPfam_Methyltransf_2,superfamily_S-adenosyl-L-methionine-dependent methyltransferases"	p.S228P	ENST00000381317.3	37	c.682	CCDS43917.1	X	249	0.11401098901098901	44	0.08943089430894309	33	0.09116022099447514	64	0.11188811188811189	108	0.1424802110817942	a	9.813	1.183635	0.21870	0.066734	0.162621	ENSG00000169093	ENST00000416733;ENST00000534940;ENST00000381333;ENST00000381317	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	1.99	-0.697	0.11284	.	0.789628	0.11208	U	0.587967	T	0.00384	0.0012	L	0.55481	1.735	0.09310	N	1	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.73708	0.923;0.981;0.915	T	0.00931	-1.1510	10	0.41790	T	0.15	.	5.94	0.19187	0.7342:0.0:0.2658:0.0	.	152;212;228	E7ER97;O95671-2;O95671	.;.;ASML_HUMAN	P	152;170;212;228	ENSP00000410578:S152P;ENSP00000446410:S170P;ENSP00000370734:S212P;ENSP00000370718:S228P	ENSP00000370718:S228P	S	-	1	0	ASMTL	1506842	0.996000	0.38824	0.006000	0.13384	0.033000	0.12548	0.313000	0.19415	-0.139000	0.11414	0.230000	0.17803	TCC	-	HMMPfam_Maf		0.667	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ASMTL	protein_coding	OTTHUMT00000055595.1	A	NM_004192		1506842	-1	no_errors	NM_004192	genbank	human	validated	54_36p	missense	SNP	0.995	G
SSU72P7	390033	genome.wustl.edu	37	11	4359956	4359956	+	IGR	SNP	T	T	C	rs201892997	byFrequency	TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr11:4359956T>C								RP11-23F23.2 (136071 upstream) : OR52B4 (28536 downstream)																							ACAGCAGCTCTTCCAGATTGT	0.507													.|||	11	0.00219649	0.0053	0.0014	5008	,	,		26080	0.003		0.0	False		,,,				2504	0.0															0			11																																								4316532	SO:0001628	intergenic_variant	390033																															11.37:g.4359956T>C			4316532		Silent	SNP	HMMPfam_Ssu72	p.E173		37	c.519		11																																																																																			-	HMMPfam_Ssu72	0	0.507					LOC390033			T			4316532	-1	pseudogene	XM_372345	genbank	human	model	54_36p	silent	SNP	0.680	C
TP53	7157	genome.wustl.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C	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	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		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.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)	AGGCGGCTCATAGGGCACCAC	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	17	GRCh37	CM015378|CM951227	TP53	M	rs121912666						102.0	94.0	97.0					17																	7578190		2203	4300	6503	7518915	SO:0001583	missense	7157	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.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys		7518915	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	HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain	p.Y220C	ENST00000269305.4	37	c.659	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	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	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT	-	HMMPfam_P53,superfamily_p53-like transcription factors		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	T	NM_000546		7518915	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
MUC16	94025	genome.wustl.edu	37	19	9089322	9089322	+	Silent	SNP	C	C	T			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr19:9089322C>T	ENST00000397910.4	-	1	2696	c.2493G>A	c.(2491-2493)tcG>tcA	p.S831S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	831	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACTCTCTGACGATTCTGAAG	0.498																																																0			19											198.0	188.0	191.0					19																	9089322		2009	4174	6183	8950322	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.2493G>A	19.37:g.9089322C>T			8950322	Q6ZQW5|Q96RK2	Silent	SNP	PatternScan_ATPASE_ALPHA_BETA,superfamily_SEA domain,HMMSmart_SM00200,HMMPfam_SEA	p.S831	ENST00000397910.4	37	c.2493	CCDS54212.1	19																																																																																			-	NULL		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	C	NM_024690		8950322	-1	no_errors	NM_024690	genbank	human	validated	54_36p	silent	SNP	0.003	T
KLF1	10661	genome.wustl.edu	37	19	12995856	12995856	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr19:12995856C>T	ENST00000264834.4	-	3	972	c.932G>A	c.(931-933)tGc>tAc	p.C311Y	CTD-2265O21.7_ENST00000592400.1_RNA	NM_006563.3	NP_006554.1	Q13351	KLF1_HUMAN	Kruppel-like factor 1 (erythroid)	311					cellular response to peptide (GO:1901653)|chromatin remodeling (GO:0006338)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|large_intestine(1)|skin(1)	5		Hepatocellular(1079;0.137)		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCCCACGTGCAGGCGTATGG	0.657																																																0			19											29.0	32.0	31.0					19																	12995856		2203	4297	6500	12856856	SO:0001583	missense	10661			U37106	CCDS12285.1	19p13.2	2014-07-18			ENSG00000105610	ENSG00000105610		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6345	protein-coding gene	gene with protein product	"""erythroid Kruppel-like factor"""	600599				8924208, 9119377	Standard	NM_006563		Approved	EKLF	uc002mvo.3	Q13351	OTTHUMG00000180536	ENST00000264834.4:c.932G>A	19.37:g.12995856C>T	ENSP00000264834:p.Cys311Tyr		12856856	Q6PIJ5|Q92899	Missense_Mutation	SNP	superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.C311Y	ENST00000264834.4	37	c.932	CCDS12285.1	19	.	.	.	.	.	.	.	.	.	.	C	34	5.382599	0.95967	.	.	ENSG00000105610	ENST00000264834	D	0.85088	-1.94	4.8	4.8	0.61643	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43260	D	0.000587	D	0.95274	0.8467	H	0.97918	4.105	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.96835	0.9614	10	0.87932	D	0	.	15.3823	0.74669	0.0:1.0:0.0:0.0	.	311	Q13351	KLF1_HUMAN	Y	311	ENSP00000264834:C311Y	ENSP00000264834:C311Y	C	-	2	0	KLF1	12856856	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.590000	0.82653	2.500000	0.84329	0.561000	0.74099	TGC	-	superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1		0.657	KLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF1	protein_coding	OTTHUMT00000451794.1	C	NM_006563		12856856	-1	no_errors	NM_006563	genbank	human	validated	54_36p	missense	SNP	1.000	T
OR11H7	390441	genome.wustl.edu	37	14	20698190	20698190	+	RNA	SNP	C	C	A	rs143726998	byFrequency	TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr14:20698190C>A	ENST00000553765.1	+	0	630							Q8NGC8	O11H7_HUMAN	olfactory receptor, family 11, subfamily H, member 7 (gene/pseudogene)							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)										TCAACCTCACCATGGTGTACA	0.493													C|||	6	0.00119808	0.0	0.0	5008	,	,		23912	0.0		0.005	False		,,,				2504	0.001															0			14																																								19768030			0					14q11.2	2012-08-09	2008-06-11	2008-06-11	ENSG00000258806	ENSG00000258806		"""GPCR / Class A : Olfactory receptors"""	15350	protein-coding gene	gene with protein product			"""olfactory receptor, family 11, subfamily H, member 7 pseudogene"""	OR11H7P			Standard	NG_004354		Approved			Q8NGC8	OTTHUMG00000170851		14.37:g.20698190C>A			19768030		Silent	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.T210	ENST00000553765.1	37	c.630		14																																																																																			-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.493	OR11H7-001	KNOWN	basic	polymorphic_pseudogene	OR11H7	polymorphic_pseudogene	OTTHUMT00000410677.1	C			19768030	+1	no_errors	ENST00000315508	ensembl	human	known	54_36p	silent	SNP	0.007	A
MAS1L	116511	genome.wustl.edu	37	6	29454576	29454576	+	Silent	SNP	A	A	T			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr6:29454576A>T	ENST00000377127.3	-	1	1162	c.1104T>A	c.(1102-1104)ctT>ctA	p.L368L		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	368					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GCTCCCTGGGAAGAAGGTTCT	0.517																																					NSCLC(153;755 1987 3859 11251 32945)											0			6											151.0	146.0	148.0					6																	29454576		2203	4300	6503	29562555	SO:0001819	synonymous_variant	116511			S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.1104T>A	6.37:g.29454576A>T			29562555	Q5SUN5	Silent	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.L368	ENST00000377127.3	37	c.1104	CCDS4661.1	6																																																																																			-	NULL		0.517	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAS1L	protein_coding	OTTHUMT00000076126.2	A	NM_052967		29562555	-1	no_errors	NM_052967	genbank	human	provisional	54_36p	silent	SNP	0.000	T
TM9SF4	9777	genome.wustl.edu	37	20	30720912	30720912	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr20:30720912G>A	ENST00000398022.2	+	2	347	c.112G>A	c.(112-114)Gat>Aat	p.D38N	TM9SF4_ENST00000217315.5_Missense_Mutation_p.D21N	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	38						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCACCAGAACGATCCCGTAGA	0.522																																																0			20											131.0	108.0	116.0					20																	30720912		2203	4300	6503	30184573	SO:0001583	missense	9777			BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.112G>A	20.37:g.30720912G>A	ENSP00000381104:p.Asp38Asn		30184573	B0QYT7|Q9NUA3	Missense_Mutation	SNP	HMMPfam_EMP70	p.D21N	ENST00000398022.2	37	c.61	CCDS13196.2	20	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326924	0.60743	.	.	ENSG00000101337	ENST00000398022;ENST00000217315	T;T	0.50813	1.28;0.73	5.2	4.26	0.50523	.	0.244211	0.41001	D	0.000966	T	0.49064	0.1535	M	0.79805	2.47	0.44030	D	0.996758	P	0.36974	0.576	B	0.35073	0.195	T	0.56019	-0.8048	10	0.59425	D	0.04	-17.3597	10.9995	0.47596	0.1488:0.0:0.8512:0.0	.	38	Q92544	TM9S4_HUMAN	N	38;21	ENSP00000381104:D38N;ENSP00000217315:D21N	ENSP00000217315:D21N	D	+	1	0	TM9SF4	30184573	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.192000	0.58378	1.436000	0.47453	-0.136000	0.14681	GAT	-	NULL		0.522	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TM9SF4	protein_coding	OTTHUMT00000323568.1	G	NM_014742		30184573	+1	no_errors	NM_014742	genbank	human	validated	54_36p	missense	SNP	0.997	A
NCOA6	23054	genome.wustl.edu	37	20	33337695	33337695	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr20:33337695G>A	ENST00000374796.2	-	10	4873	c.2303C>T	c.(2302-2304)cCc>cTc	p.P768L	NCOA6_ENST00000359003.2_Missense_Mutation_p.P768L			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	768	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CCCTTGCTGGGGCAGCATCTG	0.567																																																0			20											83.0	70.0	74.0					20																	33337695		2203	4300	6503	32801356	SO:0001583	missense	23054			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.2303C>T	20.37:g.33337695G>A	ENSP00000363929:p.Pro768Leu		32801356	A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	NULL	p.P768L	ENST00000374796.2	37	c.2303	CCDS13241.1	20	.	.	.	.	.	.	.	.	.	.	G	15.38	2.817328	0.50633	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.26067	1.76;1.76	6.17	5.22	0.72569	.	0.193640	0.36482	N	0.002569	T	0.18509	0.0444	N	0.14661	0.345	0.58432	D	0.999998	B	0.24823	0.112	B	0.22386	0.039	T	0.03278	-1.1053	10	0.62326	D	0.03	-6.5749	16.2022	0.82088	0.0:0.1317:0.8683:0.0	.	768	Q14686	NCOA6_HUMAN	L	768	ENSP00000363929:P768L;ENSP00000351894:P768L	ENSP00000351894:P768L	P	-	2	0	NCOA6	32801356	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	4.615000	0.61190	1.601000	0.50113	0.655000	0.94253	CCC	-	NULL		0.567	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA6	protein_coding	OTTHUMT00000078811.2	G	NM_014071		32801356	-1	no_errors	NM_014071	genbank	human	reviewed	54_36p	missense	SNP	0.962	A
CACNB1	782	genome.wustl.edu	37	17	37340055	37340055	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr17:37340055G>C	ENST00000394303.3	-	11	1168	c.961C>G	c.(961-963)Ctg>Gtg	p.L321V	CACNB1_ENST00000582877.1_5'Flank|CACNB1_ENST00000344140.5_Missense_Mutation_p.L366V|CACNB1_ENST00000394310.3_Missense_Mutation_p.L321V	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	321					axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TCAGCATCCAGAGCGACCAAC	0.577																																					Esophageal Squamous(5;100 366 38393 41452 45827)											0			17											90.0	74.0	79.0					17																	37340055		2203	4300	6503	34593581	SO:0001583	missense	782				CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"""Calcium channel subunits"""	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.961C>G	17.37:g.37340055G>C	ENSP00000377840:p.Leu321Val		34593581	A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Missense_Mutation	SNP	superfamily_SH3-domain,HMMPfam_SH3_1,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Ca_channel_B,HMMSmart_SM00072	p.L321V	ENST00000394303.3	37	c.961	CCDS42311.1	17	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304414	0.60305	.	.	ENSG00000067191	ENST00000539338;ENST00000394303;ENST00000344140;ENST00000394310;ENST00000536613	T;T;T	0.72167	-0.63;-0.63;-0.63	5.35	1.03	0.20045	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.000000	0.64402	D	0.000001	T	0.81226	0.4778	M	0.86651	2.83	0.58432	D	0.999992	D;P;D	0.76494	0.999;0.798;0.996	D;B;D	0.85130	0.997;0.305;0.985	T	0.77300	-0.2639	10	0.87932	D	0	-11.5742	3.6858	0.08327	0.3857:0.0:0.4532:0.1611	.	366;321;321	Q02641-2;Q02641-3;Q02641	.;.;CACB1_HUMAN	V	271;321;366;321;272	ENSP00000377840:L321V;ENSP00000345461:L366V;ENSP00000377847:L321V	ENSP00000345461:L366V	L	-	1	2	CACNB1	34593581	0.827000	0.29292	0.473000	0.27253	0.983000	0.72400	1.173000	0.31920	0.228000	0.21019	-0.424000	0.05967	CTG	-	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Ca_channel_B,HMMSmart_SM00072		0.577	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CACNB1	protein_coding	OTTHUMT00000256945.3	G			34593581	-1	no_errors	NM_000723	genbank	human	reviewed	54_36p	missense	SNP	0.988	C
KRT14	3861	genome.wustl.edu	37	17	39738778	39738778	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr17:39738778G>A	ENST00000167586.6	-	8	1414	c.1328C>T	c.(1327-1329)tCc>tTc	p.S443F		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	443	Interaction with Type I keratins and keratin filaments.|Tail.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				GCGGCTGGAGGAGGTCACTGG	0.562																																																0			17											51.0	39.0	43.0					17																	39738778		2200	4290	6490	36992304	SO:0001583	missense	3861			BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.1328C>T	17.37:g.39738778G>A	ENSP00000167586:p.Ser443Phe		36992304	Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Missense_Mutation	SNP	HMMPfam_Filament,superfamily_Prefoldin,PatternScan_IF	p.S443F	ENST00000167586.6	37	c.1328	CCDS11400.1	17	.	.	.	.	.	.	.	.	.	.	G	16.71	3.198390	0.58126	.	.	ENSG00000186847	ENST00000167586	D	0.83837	-1.77	5.24	5.24	0.73138	.	0.000000	0.49916	D	0.000125	T	0.78304	0.4262	L	0.46157	1.445	0.41340	D	0.987292	P	0.46395	0.877	B	0.38264	0.269	T	0.82382	-0.0485	10	0.66056	D	0.02	.	16.1132	0.81278	0.0:0.0:1.0:0.0	.	443	P02533	K1C14_HUMAN	F	443	ENSP00000167586:S443F	ENSP00000167586:S443F	S	-	2	0	KRT14	36992304	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.821000	0.55700	2.620000	0.88729	0.561000	0.74099	TCC	-	NULL		0.562	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT14	protein_coding	OTTHUMT00000257289.1	G	NM_000526		36992304	-1	no_errors	NM_000526	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
WDR62	284403	genome.wustl.edu	37	19	36593926	36593926	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr19:36593926G>A	ENST00000270301.7	+	28	3397	c.3397G>A	c.(3397-3399)Gga>Aga	p.G1133R	WDR62_ENST00000401500.2_Missense_Mutation_p.G1138R			O43379	WDR62_HUMAN	WD repeat domain 62	1133					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGACCGAGGCGGAAGCCAGCC	0.652																																																0			19											47.0	48.0	47.0					19																	36593926		2203	4300	6503	41285766	SO:0001583	missense	284403			BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.3397G>A	19.37:g.36593926G>A	ENSP00000270301:p.Gly1133Arg		41285766	Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40	p.G1138R	ENST00000270301.7	37	c.3412	CCDS33001.1	19	.	.	.	.	.	.	.	.	.	.	G	10.45	1.352940	0.24512	.	.	ENSG00000075702	ENST00000401500;ENST00000270301	T;T	0.52754	0.74;0.65	5.08	1.74	0.24563	.	0.660443	0.14298	N	0.328472	T	0.40247	0.1109	M	0.65975	2.015	0.09310	N	0.999994	B;B	0.31459	0.324;0.217	B;B	0.28465	0.09;0.041	T	0.29610	-1.0006	10	0.42905	T	0.14	-12.5167	5.2271	0.15401	0.1736:0.0:0.6653:0.1611	.	1138;1133	O43379-4;O43379	.;WDR62_HUMAN	R	1138;1133	ENSP00000384792:G1138R;ENSP00000270301:G1133R	ENSP00000270301:G1133R	G	+	1	0	WDR62	41285766	0.004000	0.15560	0.002000	0.10522	0.003000	0.03518	0.734000	0.26101	0.263000	0.21812	-0.897000	0.02905	GGA	-	NULL		0.652	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	WDR62	protein_coding	OTTHUMT00000457436.1	G	NM_015671		41285766	+1	no_errors	NM_001083961	genbank	human	validated	54_36p	missense	SNP	0.002	A
MAST2	23139	genome.wustl.edu	37	1	46500212	46500212	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr1:46500212G>A	ENST00000361297.2	+	29	4154	c.3871G>A	c.(3871-3873)Gga>Aga	p.G1291R	MAST2_ENST00000372009.2_Intron	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GTACAAAGTGGGAGGGAATTC	0.582																																																0			1											35.0	40.0	38.0					1																	46500212		2089	4222	6311	46272799	SO:0001583	missense	23139			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.3871G>A	1.37:g.46500212G>A	ENSP00000354671:p.Gly1291Arg		46272799		Missense_Mutation	SNP	HMMPfam_DUF1908,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,HMMPfam_Pkinase_C,superfamily_PDZ domain-like,HMMSmart_SM00228,HMMPfam_PDZ	p.G1291R	ENST00000361297.2	37	c.3871	CCDS41326.1	1	.	.	.	.	.	.	.	.	.	.	g	17.11	3.305265	0.60305	.	.	ENSG00000086015	ENST00000361297	T	0.34667	1.35	4.22	3.3	0.37823	.	0.294871	0.36555	N	0.002527	T	0.33933	0.0880	L	0.43152	1.355	0.80722	D	1	P	0.45474	0.859	B	0.44044	0.439	T	0.14868	-1.0457	10	0.52906	T	0.07	-2.2056	12.1541	0.54066	0.0845:0.0:0.9155:0.0	.	1291	Q6P0Q8	MAST2_HUMAN	R	1291	ENSP00000354671:G1291R	ENSP00000354671:G1291R	G	+	1	0	MAST2	46272799	1.000000	0.71417	0.946000	0.38457	0.705000	0.40729	9.534000	0.98061	1.113000	0.41760	0.558000	0.71614	GGA	-	NULL		0.582	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST2	protein_coding	OTTHUMT00000021977.1	G	NM_015112		46272799	+1	no_errors	NM_015112	genbank	human	validated	54_36p	missense	SNP	1.000	A
KMT2D	8085	genome.wustl.edu	37	12	49427469	49427469	+	Silent	SNP	A	A	T			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr12:49427469A>T	ENST00000301067.7	-	39	11018	c.11019T>A	c.(11017-11019)ctT>ctA	p.L3673L	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3673	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GAGCTGTATTAAGGAAGGGGC	0.642																																																0			12											49.0	55.0	53.0					12																	49427469		2012	4176	6188	47713736	SO:0001819	synonymous_variant	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.11019T>A	12.37:g.49427469A>T			47713736	O14687	Silent	SNP	superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMSmart_SM00184,PatternScan_ZF_PHD_1,HMMPfam_PHD,PatternScan_RECOMBINASES_2,HMMSmart_SM00398,superfamily_HMG-box,HMMPfam_HMG_box,HMMPfam_FYRN,HMMSmart_SM00541,HMMPfam_FYRC,HMMSmart_SM00542,superfamily_SET domain,HMMPfam_SET,HMMSmart_SM00317,HMMSmart_SM00508	p.L3673	ENST00000301067.7	37	c.11019	CCDS44873.1	12																																																																																			-	NULL		0.642	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	protein_coding	OTTHUMT00000390183.2	A			47713736	-1	no_errors	NM_003482	genbank	human	validated	54_36p	silent	SNP	0.903	T
FOXP3	50943	genome.wustl.edu	37	X	49113429	49113429	+	Silent	SNP	C	C	T			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chrX:49113429C>T	ENST00000376207.4	-	5	682	c.495G>A	c.(493-495)ccG>ccA	p.P165P	FOXP3_ENST00000557224.1_Silent_p.P130P|FOXP3_ENST00000376199.2_Silent_p.P130P|FOXP3_ENST00000455775.2_Silent_p.P165P|FOXP3_ENST00000376197.1_Silent_p.P115P|FOXP3_ENST00000518685.1_Silent_p.P130P	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN	forkhead box P3	165					B cell homeostasis (GO:0001782)|CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|chromatin remodeling (GO:0006338)|cytokine production (GO:0001816)|myeloid cell homeostasis (GO:0002262)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chronic inflammatory response (GO:0002677)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of immune response (GO:0050777)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of histone acetylation (GO:0035066)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peripheral T cell tolerance induction (GO:0002851)|positive regulation of T cell anergy (GO:0002669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of isotype switching to IgG isotypes (GO:0048302)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell activation (GO:0042110)|T cell homeostasis (GO:0043029)|T cell mediated immunity (GO:0002456)|T cell receptor signaling pathway (GO:0050852)|tolerance induction to self antigen (GO:0002513)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|NFAT protein binding (GO:0051525)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					AGAGCAGTGCCGGCTCCCTGG	0.647													C|||	1	0.000264901	0.0008	0.0	3775	,	,		13075	0.0		0.0	False		,,,				2504	0.0				GBM(182;1432 2112 16160 23073 31774)											0			X											58.0	40.0	46.0					X																	49113429		2203	4300	6503	49000373	SO:0001819	synonymous_variant	50943				CCDS14323.1, CCDS48109.1	Xp11.23	2014-09-17		2002-09-20	ENSG00000049768	ENSG00000049768		"""Forkhead boxes"""	6106	protein-coding gene	gene with protein product		300292	"""immune dysregulation, polyendocrinopathy, enteropathy, X-linked"""	IPEX		10677306, 11138001	Standard	NM_014009		Approved	JM2, XPID, AIID, PIDX, DIETER, SCURFIN	uc004dnf.4	Q9BZS1	OTTHUMG00000024135	ENST00000376207.4:c.495G>A	X.37:g.49113429C>T			49000373	A5HJT1|B7ZLG0|B9UN80|O60827|Q14DD8|Q4ZH51	Silent	SNP	"PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00339,superfamily_""Winged helix"" DNA-binding domain,HMMPfam_Fork_head,PatternScan_FORK_HEAD_2"	p.P165	ENST00000376207.4	37	c.495	CCDS14323.1	X																																																																																			-	NULL		0.647	FOXP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXP3	protein_coding	OTTHUMT00000060814.1	C	NM_014009		49000373	-1	no_errors	NM_014009	genbank	human	reviewed	54_36p	silent	SNP	0.985	T
CLPTM1	1209	genome.wustl.edu	37	19	45493678	45493678	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr19:45493678G>C	ENST00000337392.5	+	10	1308	c.1158G>C	c.(1156-1158)caG>caC	p.Q386H	CLPTM1_ENST00000541297.2_Missense_Mutation_p.Q372H|CLPTM1_ENST00000546079.1_Missense_Mutation_p.Q284H	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	386					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		ACAGCCGGCAGTCCCTGGAGG	0.622																																																0			19											128.0	128.0	128.0					19																	45493678		2203	4300	6503	50185518	SO:0001583	missense	1209			AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.1158G>C	19.37:g.45493678G>C	ENSP00000336994:p.Gln386His		50185518	B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Missense_Mutation	SNP	HMMPfam_CLPTM1	p.Q386H	ENST00000337392.5	37	c.1158	CCDS12651.1	19	.	.	.	.	.	.	.	.	.	.	G	21.7	4.191132	0.78902	.	.	ENSG00000104853	ENST00000546079;ENST00000541297;ENST00000337392;ENST00000347493	.	.	.	4.8	4.8	0.61643	.	0.215920	0.41001	D	0.000980	T	0.64382	0.2593	L	0.55481	1.735	0.80722	D	1	B;P	0.35155	0.432;0.487	B;B	0.41894	0.253;0.369	T	0.69161	-0.5218	9	0.87932	D	0	-1.4936	15.4469	0.75238	0.0:0.0:1.0:0.0	.	372;386	F5H8J3;O96005	.;CLPT1_HUMAN	H	284;372;386;386	.	ENSP00000336994:Q386H	Q	+	3	2	CLPTM1	50185518	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.945000	0.70226	2.513000	0.84729	0.485000	0.47835	CAG	-	HMMPfam_CLPTM1		0.622	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPTM1	protein_coding	OTTHUMT00000453267.1	G	NM_001294		50185518	+1	no_errors	NM_001294	genbank	human	provisional	54_36p	missense	SNP	1.000	C
KRT5	3852	genome.wustl.edu	37	12	52913609	52913609	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr12:52913609C>T	ENST00000252242.4	-	1	862	c.472G>A	c.(472-474)Gac>Aac	p.D158N		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	158	Head.		D -> V (in WC-EBS; dbSNP:rs61222761). {ECO:0000269|PubMed:16882168}.		cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		ATGCTGGGGTCGATTTGCAGG	0.557																																																0			12											176.0	165.0	169.0					12																	52913609		2203	4300	6503	51199876	SO:0001583	missense	3852				CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.472G>A	12.37:g.52913609C>T	ENSP00000252242:p.Asp158Asn		51199876	Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP	HMMPfam_Filament,PatternScan_IF	p.D158N	ENST00000252242.4	37	c.472	CCDS8830.1	12	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983992	0.93044	.	.	ENSG00000186081	ENST00000252242;ENST00000456000;ENST00000549420;ENST00000551275	D;T;T	0.95756	-3.8;-1.17;-1.17	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000009	D	0.97907	0.9312	M	0.84156	2.68	0.58432	D	0.999998	D	0.89917	1.0	D	0.77004	0.989	D	0.98374	1.0555	10	0.87932	D	0	.	19.7439	0.96243	0.0:1.0:0.0:0.0	.	158	P13647	K2C5_HUMAN	N	158;123;48;123	ENSP00000252242:D158N;ENSP00000447209:D48N;ENSP00000448041:D123N	ENSP00000252242:D158N	D	-	1	0	KRT5	51199876	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	7.818000	0.86416	2.669000	0.90835	0.655000	0.94253	GAC	-	NULL		0.557	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	KRT5	protein_coding	OTTHUMT00000405312.1	C			51199876	-1	no_errors	NM_000424	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
KIT	3815	genome.wustl.edu	37	4	55594207	55594207	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr4:55594207T>A	ENST00000288135.5	+	13	2007	c.1910T>A	c.(1909-1911)cTc>cAc	p.L637H		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	637	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CGGGAAGCCCTCATGTCTGAA	0.453		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"""L, M, O, E"""	0			4											139.0	127.0	131.0					4																	55594207		2203	4300	6503	55288964	SO:0001583	missense	3815	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1910T>A	4.37:g.55594207T>A	ENSP00000288135:p.Leu637His		55288964	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig,HMMSmart_IG,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR	p.L637H	ENST00000288135.5	37	c.1910	CCDS3496.1	4	.	.	.	.	.	.	.	.	.	.	T	22.9	4.355326	0.82243	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.85339	-1.97;-1.97	6.06	6.06	0.98353	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.48767	D	0.000173	D	0.94062	0.8097	M	0.90977	3.165	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95100	0.8229	10	0.87932	D	0	.	16.6093	0.84858	0.0:0.0:0.0:1.0	.	144;633;637	D5MAV8;P10721-2;P10721	.;.;KIT_HUMAN	H	637;633	ENSP00000288135:L637H;ENSP00000390987:L633H	ENSP00000288135:L637H	L	+	2	0	KIT	55288964	1.000000	0.71417	0.983000	0.44433	0.651000	0.38670	7.963000	0.87922	2.324000	0.78689	0.533000	0.62120	CTC	-	superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc		0.453	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIT	protein_coding	OTTHUMT00000250618.1	T			55288964	+1	no_errors	NM_000222	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
MIER3	166968	genome.wustl.edu	37	5	56219626	56219626	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr5:56219626C>A	ENST00000381199.3	-	12	1097	c.1087G>T	c.(1087-1089)Gct>Tct	p.A363S	SETD9_ENST00000541720.1_Intron|MIER3_ENST00000381213.3_Missense_Mutation_p.A362S|MIER3_ENST00000409421.1_Missense_Mutation_p.A300S|MIER3_ENST00000381226.3_Missense_Mutation_p.A368S			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	363					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		CCACCCAAAGCTTCTGTTTCA	0.403																																																0			5											151.0	148.0	149.0					5																	56219626		2203	4300	6503	56255383	SO:0001583	missense	166968			BX537798	CCDS3973.2, CCDS75248.1	5q11.2	2009-03-19			ENSG00000155545	ENSG00000155545			26678	protein-coding gene	gene with protein product						12477932	Standard	XM_005248448		Approved	FLJ35954, DKFZp686L09111, DKFZp781I1119	uc003jra.1	Q7Z3K6	OTTHUMG00000059589	ENST00000381199.3:c.1087G>T	5.37:g.56219626C>A	ENSP00000370596:p.Ala363Ser		56255383	B4DRI9|B8ZZQ0|Q5CZI0|Q68CS3|Q6MZS7|Q86YG8|Q8NA13	Missense_Mutation	SNP	PatternScan_EF_HAND_1,HMMPfam_ELM2,superfamily_Homeodomain_like,HMMSmart_SANT,HMMPfam_Myb_DNA-binding	p.A362S	ENST00000381199.3	37	c.1084		5	.	.	.	.	.	.	.	.	.	.	C	13.91	2.378460	0.42207	.	.	ENSG00000155545	ENST00000381226;ENST00000381213;ENST00000381199;ENST00000409421	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	5.98	5.09	0.68999	.	0.318979	0.38272	N	0.001754	T	0.38639	0.1048	N	0.24115	0.695	0.30399	N	0.780167	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.10450	0.0;0.003;0.005	T	0.26224	-1.0109	10	0.15952	T	0.53	-8.8132	15.2037	0.73159	0.2627:0.7373:0.0:0.0	.	363;368;362	Q7Z3K6;Q7Z3K6-2;Q7Z3K6-3	MIER3_HUMAN;.;.	S	368;362;363;300	ENSP00000370624:A368S;ENSP00000370611:A362S;ENSP00000370596:A363S;ENSP00000386584:A300S	ENSP00000370596:A363S	A	-	1	0	MIER3	56255383	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.215000	0.42862	1.475000	0.48197	0.563000	0.77884	GCT	-	NULL		0.403	MIER3-004	KNOWN	basic|appris_candidate	protein_coding	MIER3	protein_coding	OTTHUMT00000132523.2	C	NM_152622		56255383	-1	no_errors	NM_152622	genbank	human	validated	54_36p	missense	SNP	1.000	A
SLC29A4P1	402509	genome.wustl.edu	37	7	57084396	57084396	+	IGR	SNP	G	G	C			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr7:57084396G>C								RN7SL816P (51182 upstream) : ZNF479 (102924 downstream)																							GCATGCCGCTGGGGTAGACGC	0.672																																																0			7																																								57088338	SO:0001628	intergenic_variant	402509																															7.37:g.57084396G>C			57088338		Silent	SNP	HMMPfam_Nucleoside_tran	p.P247		37	c.741		7																																																																																			-	HMMPfam_Nucleoside_tran	0	0.672					LOC402509			G			57088338	-1	no_errors	XM_379840	genbank	human	model	54_36p	silent	SNP	0.803	C
VPS13C	54832	genome.wustl.edu	37	15	62259576	62259576	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr15:62259576C>A	ENST00000261517.5	-	29	3055	c.2982G>T	c.(2980-2982)gaG>gaT	p.E994D	VPS13C_ENST00000395896.4_Missense_Mutation_p.E994D|VPS13C_ENST00000249837.3_Missense_Mutation_p.E951D|VPS13C_ENST00000395898.3_Missense_Mutation_p.E951D	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CCTTAATATACTCCACTTTCA	0.333																																																0			15											57.0	65.0	63.0					15																	62259576		2202	4290	6492	60046868	SO:0001583	missense	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.2982G>T	15.37:g.62259576C>A	ENSP00000261517:p.Glu994Asp		60046868		Missense_Mutation	SNP	HMMPfam_DUF1162	p.E994D	ENST00000261517.5	37	c.2982	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116409	0.37339	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.19938	2.11;2.11;2.11	5.2	-4.7	0.03288	.	0.000000	0.64402	D	0.000001	T	0.18923	0.0454	L	0.58969	1.84	0.40924	D	0.984339	B;B;B;B	0.12630	0.005;0.006;0.006;0.006	B;B;B;B	0.19946	0.017;0.023;0.023;0.027	T	0.06463	-1.0825	10	0.35671	T	0.21	.	14.6349	0.68682	0.0:0.5516:0.0:0.4484	.	951;994;951;994	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	D	951;994;994;994	ENSP00000249837:E951D;ENSP00000261517:E994D;ENSP00000379233:E994D	ENSP00000249837:E951D	E	-	3	2	VPS13C	60046868	0.562000	0.26586	0.952000	0.39060	0.760000	0.43138	-0.354000	0.07681	-0.812000	0.04363	-0.672000	0.03802	GAG	-	NULL		0.333	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	protein_coding	OTTHUMT00000415997.1	C	NM_017684		60046868	-1	no_errors	NM_020821	genbank	human	validated	54_36p	missense	SNP	0.996	A
ENAM	10117	genome.wustl.edu	37	4	71510465	71510465	+	Missense_Mutation	SNP	A	A	G	rs529369991		TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr4:71510465A>G	ENST00000396073.3	+	9	3603	c.3322A>G	c.(3322-3324)Ata>Gta	p.I1108V	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	1108					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ATTTAAGAGTATAAATGTAGA	0.413													A|||	1	0.000199681	0.0	0.0	5008	,	,		22937	0.0		0.0	False		,,,				2504	0.001															0			4											95.0	91.0	92.0					4																	71510465		2203	4300	6503	71729329	SO:0001583	missense	10117			AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.3322A>G	4.37:g.71510465A>G	ENSP00000379383:p.Ile1108Val		71729329	Q17RI5|Q9H3D1	Missense_Mutation	SNP	NULL	p.I1108V	ENST00000396073.3	37	c.3322	CCDS3544.2	4	.	.	.	.	.	.	.	.	.	.	A	0.024	-1.384769	0.01194	.	.	ENSG00000132464	ENST00000396073	T	0.30448	1.53	5.28	2.42	0.29668	.	0.636891	0.15661	N	0.250930	T	0.19565	0.0470	L	0.38649	1.16	0.09310	N	1	B	0.10296	0.003	B	0.17722	0.019	T	0.29671	-1.0004	10	0.12766	T	0.61	-1.2012	6.0248	0.19648	0.7488:0.0:0.2512:0.0	.	1108	Q9NRM1	ENAM_HUMAN	V	1108	ENSP00000379383:I1108V	ENSP00000379383:I1108V	I	+	1	0	ENAM	71729329	0.079000	0.21365	0.012000	0.15200	0.004000	0.04260	1.287000	0.33284	0.593000	0.29745	-0.256000	0.11100	ATA	-	NULL		0.413	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENAM	protein_coding	OTTHUMT00000252166.3	A	NM_031889		71729329	+1	no_errors	NM_031889	genbank	human	validated	54_36p	missense	SNP	0.001	G
SHROOM3	57619	genome.wustl.edu	37	4	77676262	77676262	+	Silent	SNP	C	C	T			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr4:77676262C>T	ENST00000296043.6	+	7	5579	c.4626C>T	c.(4624-4626)agC>agT	p.S1542S	RP11-359D14.2_ENST00000452412.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1542					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CGGTGTATAGCATGGATGACT	0.627																																																0			4											67.0	62.0	63.0					4																	77676262		2203	4300	6503	77895286	SO:0001819	synonymous_variant	57619			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.4626C>T	4.37:g.77676262C>T			77895286	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,HMMPfam_ASD1,HMMPfam_ASD2	p.S1541	ENST00000296043.6	37	c.4623	CCDS3579.2	4																																																																																			-	NULL		0.627	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM3	protein_coding	OTTHUMT00000252408.2	C	NM_020859		77895286	+1	no_errors	NM_020859	genbank	human	validated	54_36p	silent	SNP	0.000	T
SAMD9	54809	genome.wustl.edu	37	7	92734557	92734557	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr7:92734557C>T	ENST00000379958.2	-	3	1123	c.854G>A	c.(853-855)cGa>cAa	p.R285Q		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	285						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTTGGCTCTCGAATGCACTT	0.373																																																0			7											134.0	132.0	133.0					7																	92734557		2203	4300	6503	92572493	SO:0001583	missense	54809			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.854G>A	7.37:g.92734557C>T	ENSP00000369292:p.Arg285Gln		92572493	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	superfamily_SAM_homology,HMMSmart_SAM,HMMPfam_SAM_1	p.R285Q	ENST00000379958.2	37	c.854	CCDS34680.1	7	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750198	0.69533	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.15487	2.42;2.42	4.34	3.46	0.39613	.	0.246529	0.22679	U	0.056975	T	0.15478	0.0373	M	0.70595	2.14	0.21652	N	0.999601	P	0.47910	0.902	B	0.32677	0.15	T	0.28202	-1.0051	10	0.72032	D	0.01	-2.6704	8.7691	0.34722	0.0:0.8115:0.0:0.1885	.	285	Q5K651	SAMD9_HUMAN	Q	285	ENSP00000369292:R285Q;ENSP00000414529:R285Q	ENSP00000369292:R285Q	R	-	2	0	SAMD9	92572493	0.059000	0.20769	0.995000	0.50966	0.993000	0.82548	0.702000	0.25631	1.176000	0.42840	0.603000	0.83216	CGA	-	NULL		0.373	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9	protein_coding	OTTHUMT00000341761.1	C	NM_017654		92572493	-1	no_errors	NM_017654	genbank	human	validated	54_36p	missense	SNP	0.797	T
LOC407835	407835	genome.wustl.edu	37	7	128767568	128767568	+	RNA	SNP	C	C	T			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr7:128767568C>T	ENST00000471777.1	+	0	110																											TCCTAAGCTGCCCAACGGTGT	0.577																																																0			7																																								128554804			407835																															7.37:g.128767568C>T			128554804		RNA	SNP	-	NULL	ENST00000471777.1	37	NULL		7																																																																																			-	-		0.577	RP11-286H14.4-002	KNOWN	basic	processed_transcript	LOC407835	pseudogene	OTTHUMT00000350981.1	C			128554804	+1	pseudogene	NR_002144	genbank	human	provisional	54_36p	rna	SNP	1.000	T
TSC1	7248	genome.wustl.edu	37	9	135781378	135781378	+	Silent	SNP	G	G	A			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr9:135781378G>A	ENST00000298552.3	-	15	1808	c.1587C>T	c.(1585-1587)gcC>gcT	p.A529A	TSC1_ENST00000440111.2_Silent_p.A529A|TSC1_ENST00000545250.1_Silent_p.A478A	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	529					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GGTTCACGCTGGCGCCCTGAG	0.592			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"""E, O"""	1	Unknown(1)	bone(1)	9											67.0	66.0	66.0					9																	135781378		2203	4300	6503	134771199	SO:0001819	synonymous_variant	7248	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.1587C>T	9.37:g.135781378G>A			134771199	B7Z897|Q5VVN5	Silent	SNP	HMMPfam_Hamartin	p.A529	ENST00000298552.3	37	c.1587	CCDS6956.1	9																																																																																			-	HMMPfam_Hamartin		0.592	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSC1	protein_coding	OTTHUMT00000054799.1	G			134771199	-1	no_errors	NM_000368	genbank	human	validated	54_36p	silent	SNP	0.000	A
PCDHGA1	56114	genome.wustl.edu	37	5	140712449	140712449	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr5:140712449C>T	ENST00000517417.1	+	1	2198	c.2198C>T	c.(2197-2199)gCg>gTg	p.A733V	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.A733V	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	733					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGGCTTAGCGAGCATGCCC	0.647																																																0			5											68.0	72.0	71.0					5																	140712449		2203	4300	6503	140692633	SO:0001583	missense	56114			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2198C>T	5.37:g.140712449C>T	ENSP00000431083:p.Ala733Val		140692633	Q2M273|Q9Y5D6	Missense_Mutation	SNP	HMMPfam_Cadherin_2,superfamily_Cadherin-like,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin	p.A733V	ENST00000517417.1	37	c.2198	CCDS54922.1	5	.	.	.	.	.	.	.	.	.	.	C	4.115	0.019518	0.08006	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.48522	0.82;0.81	3.74	-0.658	0.11428	.	1.393690	0.05083	N	0.483953	T	0.32466	0.0830	L	0.38838	1.175	0.09310	N	1	B;B	0.12630	0.006;0.001	B;B	0.12837	0.008;0.006	T	0.20174	-1.0283	10	0.35671	T	0.21	.	0.1253	0.00068	0.2565:0.2693:0.1958:0.2784	.	733;733	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	V	733	ENSP00000431083:A733V;ENSP00000367345:A733V	ENSP00000367345:A733V	A	+	2	0	PCDHGA1	140692633	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.049000	0.03514	0.052000	0.16007	0.573000	0.79308	GCG	-	NULL		0.647	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHGA1	protein_coding	OTTHUMT00000374737.1	C	NM_018912		140692633	+1	no_errors	NM_018912	genbank	human	reviewed	54_36p	missense	SNP	0.000	T
SCAF8	22828	genome.wustl.edu	37	6	155139695	155139695	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr6:155139695G>T	ENST00000367178.3	+	14	2180	c.1604G>T	c.(1603-1605)gGa>gTa	p.G535V	SCAF8_ENST00000417268.1_Missense_Mutation_p.G535V|SCAF8_ENST00000367186.4_Missense_Mutation_p.G601V	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	535	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CTCAGTTCTGGATCATATAAA	0.408																																																0			6											82.0	82.0	82.0					6																	155139695		2203	4300	6503	155181387	SO:0001583	missense	22828			AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.1604G>T	6.37:g.155139695G>T	ENSP00000356146:p.Gly535Val		155181387	B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	superfamily_ENTH_VHS,HMMSmart_RPR,HMMPfam_DUF618,superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1	p.G535V	ENST00000367178.3	37	c.1604	CCDS5247.1	6	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504107	0.85176	.	.	ENSG00000213079	ENST00000367178;ENST00000417268;ENST00000367186	T;T;T	0.52057	0.7;0.7;0.68	4.56	4.56	0.56223	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.073447	0.53938	U	0.000043	T	0.44746	0.1308	N	0.21373	0.66	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.81914	0.986;0.995;0.993;0.995	T	0.28744	-1.0034	10	0.24483	T	0.36	.	17.8578	0.88771	0.0:0.0:1.0:0.0	.	580;601;613;535	B7Z876;B7Z888;B7Z3A4;Q9UPN6	.;.;.;SCAF8_HUMAN	V	535;535;601	ENSP00000356146:G535V;ENSP00000413098:G535V;ENSP00000356154:G601V	ENSP00000356146:G535V	G	+	2	0	SCAF8	155181387	1.000000	0.71417	0.982000	0.44146	0.963000	0.63663	7.648000	0.83479	2.512000	0.84698	0.491000	0.48974	GGA	-	superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1		0.408	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM16	protein_coding	OTTHUMT00000042798.1	G	NM_014892		155181387	+1	no_errors	NM_014892	genbank	human	validated	54_36p	missense	SNP	1.000	T
SDHC	6391	genome.wustl.edu	37	1	161284214	161284214	+	Splice_Site	SNP	A	A	C			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr1:161284214A>C	ENST00000367975.2	+	1	168	c.19A>C	c.(19-21)Aga>Cga	p.R7R	SDHC_ENST00000513009.1_Splice_Site_p.R7R|SDHC_ENST00000432287.2_Splice_Site_p.R7R|SDHC_ENST00000392169.2_Splice_Site_p.S7R|SDHC_ENST00000342751.4_Splice_Site_p.R7R	NM_003001.3	NP_002992.1	Q99643	C560_HUMAN	succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	7					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)|respiratory chain complex II (GO:0045273)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|succinate dehydrogenase activity (GO:0000104)			urinary_tract(1)	1	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	GCTGTTGCTGAGGTGACTTCA	0.657			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Carney-Stratakis syndrome																													yes	Rec		Familial paraganglioma	1	1q21	6391	"""succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa"""		O	0			1											58.0	52.0	54.0					1																	161284214		2203	4300	6503	159550838	SO:0001630	splice_region_variant	6391	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	D49737	CCDS1230.1, CCDS41431.1, CCDS41432.1, CCDS44263.1, CCDS60330.1	1q23.3	2014-09-17	2002-08-29		ENSG00000143252	ENSG00000143252		"""Mitochondrial respiratory chain complex / Complex II"""	10682	protein-coding gene	gene with protein product		602413	"""succinate dehydrogenase complex, subunit C, integral membrane protein, 15kD"""	PGL3		9533030, 12658451	Standard	NM_001278172		Approved		uc001gag.3	Q99643	OTTHUMG00000034468	ENST00000367975.2:c.20+1A>C	1.37:g.161284214A>C			159550838	O75609|Q3C259|Q3C2D8|Q3C2H4|Q5VTH3	Missense_Mutation	SNP	HMMPfam_Sdh_cyt,superfamily_SSF81343,PatternScan_SDH_CYT_2	p.S7R	ENST00000367975.2	37	c.19	CCDS1230.1	1	.	.	.	.	.	.	.	.	.	.	A	15.74	2.923264	0.52653	.	.	ENSG00000143252	ENST00000392169	D	0.95518	-3.73	5.23	5.23	0.72850	.	.	.	.	.	D	0.85745	0.5768	.	.	.	.	.	.	B	0.02656	0.0	B	0.06405	0.002	T	0.79478	-0.1787	6	.	.	.	.	11.5057	0.50466	1.0:0.0:0.0:0.0	.	7	Q99643-5	.	R	7	ENSP00000376009:S7R	.	S	+	1	0	SDHC	159550838	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	4.471000	0.60182	1.985000	0.57927	0.482000	0.46254	AGT	-	HMMPfam_Sdh_cyt		0.657	SDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDHC	protein_coding	OTTHUMT00000083316.2	A	NM_003001	Silent	159550838	+1	no_errors	NM_001035513	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
SCN1A	6323	genome.wustl.edu	37	2	166929996	166929996	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr2:166929996C>T	ENST00000303395.4	-	1	135	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.E46K|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.E46K|SCN1A_ENST00000409050.1_Missense_Mutation_p.E46K			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	46					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGGCCATTTTCGTCGTCATCT	0.448																																																0			2											275.0	262.0	267.0					2																	166929996		2203	4300	6503	166638242	SO:0001583	missense	6323			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.136G>A	2.37:g.166929996C>T	ENSP00000303540:p.Glu46Lys		166638242	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	superfamily_SSF81324,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,HMMSmart_IQ,HMMPfam_IQ,PatternScan_RIBONUCLEASE_P	p.E46K	ENST00000303395.4	37	c.136	CCDS54413.1	2	.	.	.	.	.	.	.	.	.	.	C	19.12	3.765400	0.69878	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.96685	-4.09;-4.09;-4.05;-4.02	5.1	5.1	0.69264	.	0.179052	0.39146	N	0.001451	D	0.95354	0.8492	M	0.76433	2.335	0.50171	D	0.999852	P	0.51057	0.941	B	0.38954	0.286	D	0.95931	0.8938	10	0.62326	D	0.03	.	18.0304	0.89282	0.0:1.0:0.0:0.0	.	46	P35498-2	.	K	46	ENSP00000407030:E46K;ENSP00000303540:E46K;ENSP00000364554:E46K;ENSP00000386312:E46K	ENSP00000303540:E46K	E	-	1	0	SCN1A	166638242	0.994000	0.37717	0.997000	0.53966	0.978000	0.69477	4.681000	0.61663	2.809000	0.96659	0.655000	0.94253	GAA	-	superfamily_SSF81324		0.448	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	protein_coding	OTTHUMT00000102661.1	C	NM_006920		166638242	-1	no_errors	NM_006920	genbank	human	validated	54_36p	missense	SNP	1.000	T
ERMARD	55780	genome.wustl.edu	37	6	170181486	170181486	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr6:170181486G>C	ENST00000366773.3	+	18	1947	c.1914G>C	c.(1912-1914)aaG>aaC	p.K638N	ERMARD_ENST00000588451.1_Missense_Mutation_p.K502N|ERMARD_ENST00000366772.2_Missense_Mutation_p.K591N|ERMARD_ENST00000392095.4_Missense_Mutation_p.K512N|ERMARD_ENST00000418781.3_Missense_Mutation_p.K565N	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	638					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											GTTACGAAAAGAACAAGTGGA	0.323																																																0			6											96.0	87.0	90.0					6																	170181486		2203	4300	6503	169923411	SO:0001583	missense	55780			AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"""chromosome 6 open reading frame 70"""	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.1914G>C	6.37:g.170181486G>C	ENSP00000355735:p.Lys638Asn		169923411	B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	NULL	p.K638N	ENST00000366773.3	37	c.1914	CCDS34576.1	6	.	.	.	.	.	.	.	.	.	.	G	14.04	2.417986	0.42918	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781;ENST00000392095;ENST00000366771	T;T	0.56444	0.46;0.47	5.3	2.4	0.29515	.	0.534882	0.16610	N	0.206959	T	0.38665	0.1049	L	0.29908	0.895	0.21290	N	0.99974	D;D;P	0.63046	0.992;0.961;0.935	P;P;P	0.59357	0.856;0.732;0.544	T	0.11060	-1.0603	10	0.87932	D	0	.	8.4837	0.33059	0.3027:0.0:0.6973:0.0	.	591;565;638	Q5T6L9-3;Q5T6L9-2;Q5T6L9	.;.;CF070_HUMAN	N	638;591;565;512;286	ENSP00000355735:K638N;ENSP00000375945:K512N	ENSP00000355733:K286N	K	+	3	2	C6orf70	169923411	0.997000	0.39634	0.880000	0.34516	0.803000	0.45373	0.665000	0.25083	1.156000	0.42514	0.561000	0.74099	AAG	-	NULL		0.323	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf70	protein_coding	OTTHUMT00000043238.2	G	NM_018341		169923411	+1	no_errors	NM_018341	genbank	human	validated	54_36p	missense	SNP	0.922	C
ALPI	248	genome.wustl.edu	37	2	233321706	233321706	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr2:233321706C>A	ENST00000295463.3	+	4	475	c.398C>A	c.(397-399)gCa>gAa	p.A133E		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	133					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GGCTTGAGTGCAGCCGCCCGC	0.622																																																0			2											65.0	50.0	55.0					2																	233321706		2203	4300	6503	233029950	SO:0001583	missense	248			M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.398C>A	2.37:g.233321706C>A	ENSP00000295463:p.Ala133Glu		233029950	B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Missense_Mutation	SNP	superfamily_Alkaline phosphatase-like,HMMPfam_Alk_phosphatase,HMMSmart_SM00098,PatternScan_ALKALINE_PHOSPHATASE	p.A133E	ENST00000295463.3	37	c.398	CCDS2492.1	2	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377827	0.61735	.	.	ENSG00000163295	ENST00000295463	D	0.96232	-3.95	5.35	5.35	0.76521	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.97964	0.9330	M	0.78223	2.4	0.80722	D	1	D	0.76494	0.999	D	0.70487	0.969	D	0.98476	1.0603	10	0.66056	D	0.02	.	18.4335	0.90634	0.0:1.0:0.0:0.0	.	133	P09923	PPBI_HUMAN	E	133	ENSP00000295463:A133E	ENSP00000295463:A133E	A	+	2	0	ALPI	233029950	0.993000	0.37304	0.446000	0.26920	0.016000	0.09150	3.057000	0.49931	2.677000	0.91161	0.561000	0.74099	GCA	-	superfamily_Alkaline phosphatase-like,HMMPfam_Alk_phosphatase,HMMSmart_SM00098		0.622	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPI	protein_coding	OTTHUMT00000257035.2	C	NM_001631		233029950	+1	no_errors	NM_001631	genbank	human	reviewed	54_36p	missense	SNP	0.995	A
POLG	5428	genome.wustl.edu	37	15	89876827	89876828	+	In_Frame_Ins	INS	-	-	TGC	rs527965158|rs369920352|rs41550117|rs587781118|rs59510277	byFrequency	TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr15:89876827_89876828insTGC	ENST00000268124.5	-	2	491_492	c.158_159insGCA	c.(157-159)caa>caGCAa	p.53_53Q>QQ	POLG_ENST00000442287.2_In_Frame_Ins_p.53_53Q>QQ|RP11-217B1.2_ENST00000562356.1_RNA|RP11-217B1.2_ENST00000569473.1_RNA|POLG_ENST00000525806.1_5'Flank	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	53	Poly-Gln.				aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			gaggctgctgttgctgctgctg	0.693								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)											0			15																																								87677832	SO:0001652	inframe_insertion	5428			X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.156_158dupGCA	15.37:g.89876834_89876836dupTGC	ENSP00000268124:p.Gln55dup		87677831	Q8NFM2|Q92515	In_Frame_Ins	INS	superfamily_SSF56672,HMMPfam_DNA_pol_A,HMMSmart_POLAc,PatternScan_DNA_POLYMERASE_A	p.56in_frame_insQ	ENST00000268124.5	37	c.159_158	CCDS10350.1	15																																																																																			-	NULL		0.693	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLG	protein_coding	OTTHUMT00000312854.2	-	NM_002693		87677832	-1	no_errors	NM_002693	genbank	human	reviewed	54_36p	in_frame_ins	INS	0.017:0.017	TGC
ZAN	7455	genome.wustl.edu	37	7	100385562	100385596	+	RNA	DEL	GCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT	GCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT	-	rs549519838|rs369526619|rs112538235|rs373952854|rs113714278|rs72364644|rs59541653	byFrequency	TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	GCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT	GCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr7:100385562_100385596delGCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT	ENST00000348028.3	+	0	7195_7229				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACATTTGACGGCTTCAGCTACCGCTTGCAAGGCCGCATGACCTATGTTCTGATCA	0.583														1187	0.237021	0.1029	0.2752	5008	,	,		26483	0.0327		0.5388	False		,,,				2504	0.2914															0			7							,	590,3208		88,414,1397					,	-3.1	0.0		dbSNP_130	52	3589,4247		975,1639,1304	no	frameshift,frameshift	ZAN	NM_173059.1,NM_003386.1	,	1063,2053,2701	A1A1,A1R,RR		45.8014,15.5345,35.9206	,	,		4179,7455				100223532			7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100385562_100385596delGCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT			100223498	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Frame_Shift_Del	DEL	HMMSmart_SM00137,HMMPfam_MAM,PatternScan_MAM_1,superfamily_Serine proterase inhibitors,HMMPfam_TIL,PatternScan_EGF_2,HMMSmart_SM00215,HMMPfam_TIL_assoc,HMMSmart_SM00216,HMMPfam_VWD,HMMPfam_C8,HMMSmart_SM00181,HMMSmart_SM00214,superfamily_EGF/Laminin,HMMPfam_EGF,PatternScan_EGF_1	p.F2344fs	ENST00000348028.3	37	c.7028_7062		7																																																																																			(deletion:cds_exon[100223447,100223694])	HMMSmart_SM00216,HMMPfam_VWD		0.583	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	polymorphic_pseudogene	OTTHUMT00000347214.1	GCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT	NM_003386		100223532	+1	no_errors	ENST00000349350	ensembl	human	known	54_36p	frame_shift_del	DEL	0.088:0.076:0.047:0.031:0.008:0.004:0.007:0.317:0.790:0.908:0.967:0.964:0.963:0.997:1.000:0.999:0.997:0.968:0.891:0.954:1.000:1.000:1.000:0.999:0.998:0.998:1.000:0.999:1.000:1.000:1.000:1.000:1.000:0.990:0.736	-
HSPA8	3312	genome.wustl.edu	37	11	122930293	122930303	+	Frame_Shift_Del	DEL	CAGGACAATAT	CAGGACAATAT	-	rs115882568|rs146503730	byFrequency	TCGA-04-1646-01A-01W-0639-09	TCGA-04-1646-11A-01W-0639-09	CAGGACAATAT	CAGGACAATAT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	85e723d0-83fa-4654-8c17-5fe4f2801487	813465a1-876e-41e3-aed3-456efa85637d	g.chr11:122930293_122930303delCAGGACAATAT	ENST00000532636.1	-	5	1117_1127	c.998_1008delATATTGTCCTG	c.(997-1008)gatattgtcctgfs	p.DIVL333fs	HSPA8_ENST00000534624.1_Frame_Shift_Del_p.DIVL333fs|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000453788.2_Frame_Shift_Del_p.DIVL333fs|HSPA8_ENST00000533540.1_Frame_Shift_Del_p.DIVL187fs|SNORD14E_ENST00000364009.1_RNA|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000526110.1_Frame_Shift_Del_p.DIVL314fs|HSPA8_ENST00000534319.1_Frame_Shift_Del_p.DIVL97fs|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000227378.3_Frame_Shift_Del_p.DIVL333fs			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	333	Interaction with BAG1.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AACCACCAACCAGGACAATATCATGAATCTG	0.464																																					Colon(21;486 594 5900 6733 14272)											0			11																																								122435513	SO:0001589	frameshift_variant	3312			Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.998_1008delATATTGTCCTG	11.37:g.122930293_122930303delCAGGACAATAT	ENSP00000437125:p.Asp333fs		122435503	Q9H3R6	Frame_Shift_Del	DEL	superfamily_Actin-like ATPase domain,HMMPfam_HSP70,PatternScan_HSP70_1,PatternScan_HSP70_2,PatternScan_HSP70_3,superfamily_Heat shock protein 70kD (HSP70) peptide-binding domain,superfamily_Heat shock protein 70kD (HSP70) C-terminal subdomain	p.D333fs	ENST00000532636.1	37	c.1008_998	CCDS8440.1	11																																																																																			(deletion:cds_exon[122435391,122435946])	HMMPfam_HSP70,superfamily_Actin-like ATPase domain		0.464	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	HSPA8	protein_coding	OTTHUMT00000387515.1	CAGGACAATAT			122435513	-1	no_errors	NM_006597	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1.000:1.000:0.970:0.994:1.000:1.000:1.000:1.000:1.000:0.940:1.000	-
