#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
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	G	G	A			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	G	G					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chrUnknown:0G>A								None (None upstream) : None (None downstream)																								0.0																																																0			MT																																								12184	SO:0001628	intergenic_variant	0																															Unknown.37:g.0G>A			12184		RNA	SNP	-	NULL		37	NULL		MT																																																																																			-	-	0	0					ENSG00000210176			G			12184	+1	no_errors	ENST00000387441	ensembl	human	novel	54_36p	rna	SNP	NULL	A
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	G	G	A			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	G	G					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chrUnknown:0G>A								None (None upstream) : None (None downstream)																								0.0																																																0			MT																																								13635	SO:0001628	intergenic_variant	4540																															Unknown.37:g.0G>A			13635		Missense_Mutation	SNP	HMMPfam_Oxidored_q1_N,HMMPfam_Oxidored_q1,HMMPfam_NADH5_C	p.G433D		37	c.1298		MT																																																																																			-	HMMPfam_NADH5_C	0	0					MT-ND5			G			13635	+1	no_errors	ENST00000361567	ensembl	human	known	54_36p	missense	SNP	NULL	A
DEFB125	245938	genome.wustl.edu	37	20	76821	76821	+	Missense_Mutation	SNP	A	A	G			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr20:76821A>G	ENST00000382410.2	+	2	234	c.234A>G	c.(232-234)atA>atG	p.I78M	DEFB125_ENST00000608838.1_3'UTR	NM_153325.2	NP_697020.2	Q8N687	DB125_HUMAN	defensin, beta 125	78					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			TAGAGGATATAACATTGGATT	0.358																																																0			20											188.0	178.0	181.0					20																	76821		2203	4300	6503	24821	SO:0001583	missense	245938			AA935636	CCDS12989.2	20p13	2008-07-17			ENSG00000178591	ENSG00000178591		"""Defensins, beta"""	18105	protein-coding gene	gene with protein product	"""beta defensin 25"""					11854508	Standard	NM_153325		Approved	DEFB-25	uc002wcw.3	Q8N687	OTTHUMG00000031614	ENST00000382410.2:c.234A>G	20.37:g.76821A>G	ENSP00000371847:p.Ile78Met		24821	A1A502|Q7Z7B9	Missense_Mutation	SNP	NULL	p.I78M	ENST00000382410.2	37	c.234	CCDS12989.2	20	.	.	.	.	.	.	.	.	.	.	.	9.903	1.207440	0.22205	.	.	ENSG00000178591	ENST00000382410	T	0.10763	2.84	3.49	-0.081	0.13704	.	1.887730	0.03245	N	0.181051	T	0.06234	0.0161	N	0.19112	0.55	0.09310	N	1	P	0.38827	0.649	B	0.33042	0.157	T	0.20338	-1.0278	10	0.62326	D	0.03	-0.7919	0.5421	0.00647	0.3947:0.2698:0.1347:0.2008	.	78	Q8N687	DB125_HUMAN	M	78	ENSP00000371847:I78M	ENSP00000371847:I78M	I	+	3	3	DEFB125	24821	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.240000	0.08952	-0.038000	0.13624	0.533000	0.62120	ATA	-	NULL		0.358	DEFB125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB125	protein_coding	OTTHUMT00000077426.2	A	NM_153325		24821	+1	no_errors	NM_153325	genbank	human	reviewed	54_36p	missense	SNP	0.000	G
NEURL4	84461	genome.wustl.edu	37	17	7220813	7220813	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr17:7220813G>A	ENST00000399464.2	-	27	4300	c.4285C>T	c.(4285-4287)Cgg>Tgg	p.R1429W	NEURL4_ENST00000570460.1_Missense_Mutation_p.R1405W|GPS2_ENST00000380728.2_5'Flank|NEURL4_ENST00000315614.7_Missense_Mutation_p.R1427W|GPS2_ENST00000391950.3_5'Flank|NEURL4_ENST00000574120.1_5'UTR|GPS2_ENST00000389167.5_5'Flank|RP11-542C16.2_ENST00000575474.1_Silent_p.Y242Y	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	1429						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGCACTCTCCGTACAGCGGCA	0.607																																																0			17											98.0	102.0	101.0					17																	7220813		2070	4209	6279	7161537	SO:0001583	missense	84461				CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.4285C>T	17.37:g.7220813G>A	ENSP00000382390:p.Arg1429Trp		7161537	Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	HMMPfam_Neuralized,HMMSmart_SM00588	p.R1429W	ENST00000399464.2	37	c.4285	CCDS42251.1	17	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181375	0.78677	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.39997	1.05;1.05	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.65260	0.2674	M	0.76002	2.32	0.40222	D	0.977744	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.985	T	0.70753	-0.4786	10	0.87932	D	0	-17.6933	16.8766	0.86053	0.0:0.0:1.0:0.0	.	1427;1429	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	W	1427;1429	ENSP00000319826:R1427W;ENSP00000382390:R1429W	ENSP00000319826:R1427W	R	-	1	2	NEURL4	7161537	1.000000	0.71417	0.990000	0.47175	0.768000	0.43524	2.777000	0.47717	2.499000	0.84300	0.462000	0.41574	CGG	-	NULL		0.607	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEURL4	protein_coding	OTTHUMT00000255434.2	G	NM_032442		7161537	-1	no_errors	NM_032442	genbank	human	validated	54_36p	missense	SNP	1.000	A
TP53	7157	genome.wustl.edu	37	17	7577124	7577124	+	Missense_Mutation	SNP	C	C	T	rs121912657		TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr17:7577124C>T	ENST00000269305.4	-	8	1003	c.814G>A	c.(814-816)Gtg>Atg	p.V272M	TP53_ENST00000445888.2_Missense_Mutation_p.V272M|TP53_ENST00000455263.2_Missense_Mutation_p.V272M|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.V272M|TP53_ENST00000420246.2_Missense_Mutation_p.V272M	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	272	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1737852}.|V -> M (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.V272M(82)|p.V272L(26)|p.0?(8)|p.V272fs*73(4)|p.?(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.V272fs*34(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.G266_E271delGRNSFE(1)|p.V272fs*74(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAAACACGCACCTCAAAGCTG	0.527		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"""	133	Substitution - Missense(108)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)	large_intestine(23)|ovary(16)|lung(14)|breast(14)|oesophagus(11)|upper_aerodigestive_tract(9)|haematopoietic_and_lymphoid_tissue(9)|central_nervous_system(7)|bone(5)|stomach(4)|pancreas(4)|liver(4)|kidney(3)|urinary_tract(3)|endometrium(2)|thyroid(1)|vulva(1)|soft_tissue(1)|testis(1)|skin(1)	17	GRCh37	CM920676	TP53	M	rs121912657						62.0	54.0	57.0					17																	7577124		2203	4300	6503	7517849	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.814G>A	17.37:g.7577124C>T	ENSP00000269305:p.Val272Met		7517849	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.V272M	ENST00000269305.4	37	c.814	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318455	0.81469	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99833	-7.03;-7.03;-7.03;-7.03;-7.03;-7.03	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.057604	0.64402	D	0.000002	D	0.99843	0.9928	M	0.90309	3.105	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.96721	0.9532	10	0.87932	D	0	-27.8222	16.1198	0.81342	0.0:1.0:0.0:0.0	.	272;272;272;272	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	M	272;272;272;272;272;261;140	ENSP00000352610:V272M;ENSP00000269305:V272M;ENSP00000398846:V272M;ENSP00000391127:V272M;ENSP00000391478:V272M;ENSP00000425104:V140M	ENSP00000269305:V272M	V	-	1	0	TP53	7517849	1.000000	0.71417	0.986000	0.45419	0.849000	0.48306	5.871000	0.69628	2.667000	0.90743	0.462000	0.41574	GTG	-	HMMPfam_P53,superfamily_p53-like transcription factors		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7517849	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	missense	SNP	0.999	T
ADCY2	108	genome.wustl.edu	37	5	7727290	7727290	+	Missense_Mutation	SNP	C	C	A			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr5:7727290C>A	ENST00000338316.4	+	14	1876	c.1787C>A	c.(1786-1788)gCa>gAa	p.A596E	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Missense_Mutation_p.A416E	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	596					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CGGGCCACGGCACTGCCAGCG	0.502																																																0			5											174.0	152.0	159.0					5																	7727290		2203	4300	6503	7780290	SO:0001583	missense	108			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1787C>A	5.37:g.7727290C>A	ENSP00000342952:p.Ala596Glu		7780290	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_Guanylate_cyc,PatternScan_GUANYLATE_CYCLASE_1,HMMPfam_DUF1053	p.A596E	ENST00000338316.4	37	c.1787	CCDS3872.2	5	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490325	0.44249	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;T	0.77229	-1.08;-1.08	5.21	5.21	0.72293	.	0.105782	0.64402	D	0.000005	T	0.64853	0.2636	N	0.08118	0	0.44995	D	0.998011	B;B	0.31859	0.343;0.001	B;B	0.43155	0.41;0.009	T	0.61202	-0.7110	10	0.05620	T	0.96	.	15.7101	0.77620	0.0:1.0:0.0:0.0	.	416;596	B7Z2C1;Q08462	.;ADCY2_HUMAN	E	596;429;416	ENSP00000342952:A596E;ENSP00000444803:A416E	ENSP00000342952:A596E	A	+	2	0	ADCY2	7780290	0.998000	0.40836	0.693000	0.30195	0.782000	0.44232	4.188000	0.58351	2.433000	0.82419	0.650000	0.86243	GCA	-	HMMPfam_DUF1053		0.502	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY2	protein_coding	OTTHUMT00000206930.2	C	NM_020546		7780290	+1	no_errors	NM_020546	genbank	human	reviewed	54_36p	missense	SNP	0.979	A
ZNF627	199692	genome.wustl.edu	37	19	11728201	11728201	+	Nonsense_Mutation	SNP	C	C	T			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr19:11728201C>T	ENST00000361113.5	+	4	1091	c.883C>T	c.(883-885)Cga>Tga	p.R295*	ZNF627_ENST00000588174.1_3'UTR	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	295					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						CAGTTCTGTTCGAAGTCACGA	0.443																																					Melanoma(112;173 1614 10731 17751 23322)											0			19											55.0	59.0	58.0					19																	11728201		2197	4297	6494	11589201	SO:0001587	stop_gained	199692			AK074846	CCDS42502.1	19p13.2	2013-01-08				ENSG00000198551		"""Zinc fingers, C2H2-type"", ""-"""	30570	protein-coding gene	gene with protein product		612248				12477932	Standard	NM_145295		Approved	FLJ90365	uc002msk.2	Q7L945		ENST00000361113.5:c.883C>T	19.37:g.11728201C>T	ENSP00000354414:p.Arg295*		11589201	O14846|Q4KMP9|Q6NT81|Q9BRG4	Nonsense_Mutation	SNP	superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,HMMSmart_ZnF_C2H2,superfamily_SSF57667,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.R295*	ENST00000361113.5	37	c.883	CCDS42502.1	19	.	.	.	.	.	.	.	.	.	.	c	17.51	3.408712	0.62399	.	.	ENSG00000198551	ENST00000361113	.	.	.	1.5	0.355	0.16069	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.4579	0.27276	0.0:0.7272:0.2728:0.0	.	.	.	.	X	295	.	ENSP00000354414:R295X	R	+	1	2	ZNF627	11589201	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	-0.316000	0.08071	0.191000	0.20236	-0.499000	0.04595	CGA	-	superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1		0.443	ZNF627-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF627	protein_coding	OTTHUMT00000458875.1	C	NM_145295		11589201	+1	no_errors	NM_145295	genbank	human	validated	54_36p	nonsense	SNP	0.003	T
MTMR7	9108	genome.wustl.edu	37	8	17159773	17159773	+	Missense_Mutation	SNP	A	A	T			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr8:17159773A>T	ENST00000180173.5	-	13	1544	c.1510T>A	c.(1510-1512)Tat>Aat	p.Y504N	MTMR7_ENST00000521857.1_Missense_Mutation_p.Y504N|MTMR7_ENST00000398099.3_Missense_Mutation_p.Y95N	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	504	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				inositol phosphate dephosphorylation (GO:0046855)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		AAGCGGTTATACATTCCACTC	0.448																																																0			8											117.0	105.0	109.0					8																	17159773		2203	4300	6503	17204144	SO:0001583	missense	9108			AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.1510T>A	8.37:g.17159773A>T	ENSP00000180173:p.Tyr504Asn		17204144	A1L4K9|B4DG87|Q68DX4	Missense_Mutation	SNP	superfamily_PH domain-like,superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_Myotub-related,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1	p.Y504N	ENST00000180173.5	37	c.1510	CCDS34851.1	8	.	.	.	.	.	.	.	.	.	.	A	25.8	4.678270	0.88542	.	.	ENSG00000003987	ENST00000180173;ENST00000398099;ENST00000521857	D;D;D	0.91631	-2.88;-2.88;-2.88	5.59	5.59	0.84812	Myotubularin phosphatase domain (1);	0.056924	0.64402	D	0.000001	D	0.96747	0.8938	M	0.90759	3.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.992;0.997	D	0.97541	1.0086	10	0.87932	D	0	.	16.0849	0.81038	1.0:0.0:0.0:0.0	.	504;504	Q9Y216-2;Q9Y216	.;MTMR7_HUMAN	N	504;95;504	ENSP00000180173:Y504N;ENSP00000381171:Y95N;ENSP00000429733:Y504N	ENSP00000180173:Y504N	Y	-	1	0	MTMR7	17204144	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.339000	0.96797	2.267000	0.75376	0.383000	0.25322	TAT	-	superfamily_(Phosphotyrosine protein) phosphatases II		0.448	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR7	protein_coding	OTTHUMT00000375311.1	A	NM_004686		17204144	-1	no_errors	NM_004686	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
ZNF962P	729501	genome.wustl.edu	37	13	19043911	19043911	+	IGR	SNP	C	C	A			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr13:19043911C>A								None (None upstream) : LINC00349 (70725 downstream)																							GTATTTTGCTCTGAGTAATTG	0.323																																																0			13																																								17941911	SO:0001628	intergenic_variant	0																															13.37:g.19043911C>A			17941911		Missense_Mutation	SNP	HMMPfam_KRAB,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.Q142H		37	c.426		13																																																																																			-	superfamily_C2H2 and C2HC zinc fingers	0	0.323					ENSG00000215604			C			17941911	-1	no_stop_codon	ENST00000342944	ensembl	human	known	54_36p	missense	SNP	0.740	A
GABPA	2551	genome.wustl.edu	37	21	27141407	27141407	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr21:27141407G>A	ENST00000354828.3	+	10	1756	c.1229G>A	c.(1228-1230)aGt>aAt	p.S410N	GABPA_ENST00000400075.3_Missense_Mutation_p.S410N	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	410					cell differentiation (GO:0030154)|in utero embryonic development (GO:0001701)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II 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 coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						ATTGGATACAGTGCAGCGGAG	0.423																																																0			21											94.0	97.0	96.0					21																	27141407		2203	4300	6503	26063278	SO:0001583	missense	2551				CCDS13575.1	21q21-q22.1	2008-07-31	2002-08-29		ENSG00000154727	ENSG00000154727			4071	protein-coding gene	gene with protein product	"""human nuclear respiratory factor-2 subunit alpha"", ""nuclear respiratory factor 2 alpha subunit"""	600609	"""GA-binding protein transcription factor, alpha subunit (60kD)"""			8441384	Standard	NM_002040		Approved	E4TF1A, NFT2, NRF2, E4TF1-60, NRF2A	uc002yly.4	Q06546	OTTHUMG00000078443	ENST00000354828.3:c.1229G>A	21.37:g.27141407G>A	ENSP00000346886:p.Ser410Asn		26063278	Q12939	Missense_Mutation	SNP	"superfamily_SAM/Pointed domain,HMMPfam_SAM_PNT,HMMSmart_SM00251,superfamily_""Winged helix"" DNA-binding domain,HMMPfam_Ets,HMMSmart_SM00413,PatternScan_ETS_DOMAIN_1,PatternScan_ETS_DOMAIN_2"	p.S410N	ENST00000354828.3	37	c.1229	CCDS13575.1	21	.	.	.	.	.	.	.	.	.	.	G	13.54	2.267098	0.40095	.	.	ENSG00000154727	ENST00000354828;ENST00000400075	T;T	0.13778	2.56;2.56	5.76	5.76	0.90799	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.091827	0.85682	D	0.000000	T	0.12263	0.0298	N	0.20986	0.625	0.80722	D	1	B	0.22146	0.065	B	0.12156	0.007	T	0.09729	-1.0661	10	0.36615	T	0.2	.	19.5484	0.95308	0.0:0.0:1.0:0.0	.	410	Q06546	GABPA_HUMAN	N	410	ENSP00000346886:S410N;ENSP00000382948:S410N	ENSP00000346886:S410N	S	+	2	0	GABPA	26063278	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.577000	0.82486	2.725000	0.93324	0.585000	0.79938	AGT	-	"superfamily_""Winged helix"" DNA-binding domain"		0.423	GABPA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GABPA	protein_coding	OTTHUMT00000171365.1	G	NM_002040		26063278	+1	no_errors	NM_002040	genbank	human	validated	54_36p	missense	SNP	1.000	A
NF1	4763	genome.wustl.edu	37	17	29592269	29592269	+	Nonsense_Mutation	SNP	G	G	T			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr17:29592269G>T	ENST00000358273.4	+	36	5130	c.4747G>T	c.(4747-4749)Gaa>Taa	p.E1583*	NF1_ENST00000356175.3_Nonsense_Mutation_p.E1562*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1583	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.|Lipid binding.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGAAAAAGAAGAATTCAAGGC	0.323			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	17											62.0	63.0	63.0					17																	29592269		2203	4298	6501	26616395	SO:0001587	stop_gained	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4747G>T	17.37:g.29592269G>T	ENSP00000351015:p.Glu1583*		26616395	O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	HMMSmart_SM00323,superfamily_GTPase activation domain GAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1,HMMSmart_SM00516	p.E1583*	ENST00000358273.4	37	c.4747	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	G	43	9.909801	0.99293	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	6.02	6.02	0.97574	.	0.053103	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	20.547	0.99278	0.0:0.0:1.0:0.0	.	.	.	.	X	1583;1562;1228	.	ENSP00000348498:E1562X	E	+	1	0	NF1	26616395	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.196000	0.94978	2.850000	0.98022	0.650000	0.86243	GAA	-	HMMSmart_SM00516		0.323	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	protein_coding	OTTHUMT00000256351.2	G	NM_000267		26616395	+1	no_errors	NM_001042492	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	T
PDZD2	23037	genome.wustl.edu	37	5	32087829	32087829	+	Silent	SNP	G	G	A	rs145909412	byFrequency	TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr5:32087829G>A	ENST00000438447.1	+	20	4663	c.4275G>A	c.(4273-4275)acG>acA	p.T1425T	PDZD2_ENST00000282493.3_Silent_p.T1425T			O15018	PDZD2_HUMAN	PDZ domain containing 2	1425			T -> M (in dbSNP:rs36097367).		cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GCCCTGTGACGGACATTGACA	0.607													G|||	2	0.000399361	0.0	0.0029	5008	,	,		18368	0.0		0.0	False		,,,				2504	0.0															0			5						G		2,4404	4.2+/-10.8	0,2,2201	39.0	41.0	40.0		4275	-8.0	0.5	5	dbSNP_134	40	15,8585	9.1+/-34.3	0,15,4285	no	coding-synonymous	PDZD2	NM_178140.2		0,17,6486	AA,AG,GG		0.1744,0.0454,0.1307		1425/2840	32087829	17,12989	2203	4300	6503	32123586	SO:0001819	synonymous_variant	23037			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.4275G>A	5.37:g.32087829G>A			32123586	Q9BXD4	Silent	SNP	superfamily_PDZ domain-like,HMMSmart_SM00228,HMMPfam_PDZ,PatternScan_PROTEIN_KINASE_ATP	p.T1425	ENST00000438447.1	37	c.4275	CCDS34137.1	5																																																																																			-	NULL		0.607	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	protein_coding	OTTHUMT00000366608.1	G			32123586	+1	no_errors	NM_178140	genbank	human	reviewed	54_36p	silent	SNP	0.686	A
BIRC6	57448	genome.wustl.edu	37	2	32640332	32640332	+	Missense_Mutation	SNP	A	A	T			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr2:32640332A>T	ENST00000421745.2	+	10	2107	c.1973A>T	c.(1972-1974)cAt>cTt	p.H658L		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	658					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AAAAGTTTGCATGATGATGGT	0.373																																					Pancreas(94;175 1509 16028 18060 45422)											0			2											79.0	77.0	78.0					2																	32640332		2203	4300	6503	32493836	SO:0001583	missense	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.1973A>T	2.37:g.32640332A>T	ENSP00000393596:p.His658Leu		32493836	Q9ULD1	Missense_Mutation	SNP	superfamily_Inhibitor of apoptosis (IAP) repeat,HMMSmart_SM00238,HMMPfam_BIR,superfamily_Galactose-binding domain-like,superfamily_UBC-like,HMMSmart_SM00212,HMMPfam_UQ_con	p.H658L	ENST00000421745.2	37	c.1973	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	A	16.88	3.244543	0.59103	.	.	ENSG00000115760	ENST00000421745	T	0.78364	-1.17	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.67702	0.2921	N	0.24115	0.695	0.58432	D	0.999998	P	0.47409	0.895	B	0.41236	0.351	T	0.71523	-0.4567	10	0.46703	T	0.11	.	16.0048	0.80354	1.0:0.0:0.0:0.0	.	658	Q9NR09	BIRC6_HUMAN	L	658	ENSP00000393596:H658L	ENSP00000393596:H658L	H	+	2	0	BIRC6	32493836	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.980000	0.76160	2.237000	0.73441	0.528000	0.53228	CAT	-	NULL		0.373	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	protein_coding	OTTHUMT00000318769.3	A	NM_016252		32493836	+1	no_errors	NM_016252	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
ZNF536	9745	genome.wustl.edu	37	19	31038892	31038892	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr19:31038892C>T	ENST00000355537.3	+	4	2513	c.2366C>T	c.(2365-2367)aCg>aTg	p.T789M		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	789					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.T789M(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TATGCCGGCACGCAGTCAGCA	0.502																																																1	Substitution - Missense(1)	NS(1)	19											66.0	70.0	69.0					19																	31038892		2203	4300	6503	35730732	SO:0001583	missense	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2366C>T	19.37:g.31038892C>T	ENSP00000347730:p.Thr789Met		35730732	A2RU18	Missense_Mutation	SNP	superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.T789M	ENST00000355537.3	37	c.2366	CCDS32984.1	19	.	.	.	.	.	.	.	.	.	.	C	19.04	3.749075	0.69533	.	.	ENSG00000198597	ENST00000355537	T	0.07444	3.19	6.08	6.08	0.98989	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.26557	0.0649	L	0.47016	1.485	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.00026	-1.2310	10	0.66056	D	0.02	-44.8988	20.6721	0.99693	0.0:1.0:0.0:0.0	.	789;789	A7E228;O15090	.;ZN536_HUMAN	M	789	ENSP00000347730:T789M	ENSP00000347730:T789M	T	+	2	0	ZNF536	35730732	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.481000	0.81124	2.894000	0.99253	0.591000	0.81541	ACG	-	superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2		0.502	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	protein_coding	OTTHUMT00000459667.2	C	NM_014717		35730732	+1	no_errors	NM_014717	genbank	human	provisional	54_36p	missense	SNP	1.000	T
CHD6	84181	genome.wustl.edu	37	20	40111972	40111972	+	Silent	SNP	T	T	C			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr20:40111972T>C	ENST00000373233.3	-	16	2622	c.2445A>G	c.(2443-2445)ctA>ctG	p.L815L	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	815	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GGTAATCTTCTAGGATGTCGA	0.433																																																0			20											89.0	81.0	84.0					20																	40111972		2203	4300	6503	39545386	SO:0001819	synonymous_variant	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.2445A>G	20.37:g.40111972T>C			39545386	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	superfamily_Chromo domain-like,HMMSmart_SM00298,HMMPfam_Chromo,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_SNF2_N,PatternScan_DEAH_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_BRK,HMMSmart_SM00592	p.L815	ENST00000373233.3	37	c.2445	CCDS13317.1	20																																																																																			-	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00490		0.433	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	protein_coding	OTTHUMT00000079270.1	T			39545386	-1	no_errors	NM_032221	genbank	human	reviewed	54_36p	silent	SNP	1.000	C
PTPRT	11122	genome.wustl.edu	37	20	40877326	40877326	+	Splice_Site	SNP	C	C	T			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr20:40877326C>T	ENST00000373187.1	-	14	2312		c.e14+1		PTPRT_ENST00000356100.2_Splice_Site|PTPRT_ENST00000373201.1_Splice_Site|PTPRT_ENST00000373193.3_Splice_Site|PTPRT_ENST00000373190.1_Splice_Site|PTPRT_ENST00000373184.1_Splice_Site|PTPRT_ENST00000373198.4_Splice_Site			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T						cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CAGAGACTCACCTCCTTTTGA	0.547																																																0			20											93.0	98.0	96.0					20																	40877326		2184	4278	6462	40310740	SO:0001630	splice_region_variant	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.2312+1G>A	20.37:g.40877326C>T			40310740	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Splice_Site	SNP	-	e15+1	ENST00000373187.1	37	c.2369+1	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	C	26.3	4.729149	0.89390	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	.	.	.	6.02	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3994	0.74827	0.0:0.9335:0.0:0.0665	.	.	.	.	.	-1	.	.	.	-	.	.	PTPRT	40310740	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.458000	0.80787	1.563000	0.49615	0.549000	0.68633	.	-	-		0.547	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	protein_coding	OTTHUMT00000080315.1	C		Intron	40310740	-1	no_errors	NM_133170	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	T
DGKK	139189	genome.wustl.edu	37	X	50213385	50213385	+	RNA	SNP	G	G	A			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chrX:50213385G>A	ENST00000376025.2	-	0	352							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					cggctctgtggcaggttctgg	0.652																																																0			X											65.0	80.0	75.0					X																	50213385		1820	4058	5878	50230125			139189			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50213385G>A			50230125	B2RP91	Missense_Mutation	SNP	superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,HMMPfam_DAGK_cat,HMMSmart_SM00046,HMMPfam_DAGK_acc,HMMSmart_SM00045	p.A98V	ENST00000376025.2	37	c.293		X																																																																																			-	NULL		0.652	DGKK-001	KNOWN	basic	processed_transcript	DGKK	processed_transcript	OTTHUMT00000368187.1	G	NM_001013742		50230125	-1	no_errors	ENST00000376025	ensembl	human	known	54_36p	missense	SNP	0.171	A
SPTBN1	6711	genome.wustl.edu	37	2	54857096	54857096	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr2:54857096C>T	ENST00000356805.4	+	15	3018	c.2737C>T	c.(2737-2739)Cgc>Tgc	p.R913C	SPTBN1_ENST00000333896.5_Missense_Mutation_p.R900C	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	913					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CCAGATTGCACGCCAGCTGAT	0.542																																																0			2											78.0	71.0	73.0					2																	54857096		2203	4300	6503	54710600	SO:0001583	missense	6711				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.2737C>T	2.37:g.54857096C>T	ENSP00000349259:p.Arg913Cys		54710600	B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233	p.R913C	ENST00000356805.4	37	c.2737	CCDS33198.1	2	.	.	.	.	.	.	.	.	.	.	C	18.03	3.533313	0.64972	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.36340	1.27;1.26	5.78	3.88	0.44766	.	0.000000	0.85682	D	0.000000	T	0.53546	0.1803	L	0.60455	1.87	0.58432	D	0.999997	D;D	0.71674	0.989;0.998	P;D	0.64877	0.827;0.93	T	0.59429	-0.7456	10	0.87932	D	0	.	14.6332	0.68671	0.4074:0.5925:0.0:0.0	.	900;913	Q01082-3;Q01082	.;SPTB2_HUMAN	C	913;900	ENSP00000349259:R913C;ENSP00000334156:R900C	ENSP00000334156:R900C	R	+	1	0	SPTBN1	54710600	0.122000	0.22280	0.911000	0.35937	0.996000	0.88848	0.639000	0.24690	1.411000	0.46957	0.655000	0.94253	CGC	-	superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150		0.542	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN1	protein_coding	OTTHUMT00000258115.3	C			54710600	+1	no_errors	NM_003128	genbank	human	reviewed	54_36p	missense	SNP	0.440	T
DHRS7	51635	genome.wustl.edu	37	14	60619865	60619865	+	Missense_Mutation	SNP	G	G	A			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr14:60619865G>A	ENST00000216500.5	-	5	880	c.425C>T	c.(424-426)tCc>tTc	p.S142F	PCNXL4_ENST00000553898.1_Intron|DHRS7_ENST00000553986.1_5'UTR|DHRS7_ENST00000557185.1_Missense_Mutation_p.S142F|PCNXL4_ENST00000406949.1_Intron|DHRS7_ENST00000536410.2_Missense_Mutation_p.S92F			Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	142						membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.121)		AGAACGCTGGGACATTCCACC	0.428																																																0			14											106.0	94.0	98.0					14																	60619865		2203	4300	6503	59689618	SO:0001583	missense	51635			AF151844	CCDS9743.1	14q23.1	2011-09-20			ENSG00000100612	ENSG00000100612		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	21524	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 4"", ""short chain dehydrogenase/reductase family 34C, member 1"""	612833				10800688, 10810093, 19027726	Standard	NM_016029		Approved	retDSR4, SDR34C1	uc001xes.3	Q9Y394	OTTHUMG00000140331	ENST00000216500.5:c.425C>T	14.37:g.60619865G>A	ENSP00000216500:p.Ser142Phe		59689618	B2R896|Q9UKU2	Missense_Mutation	SNP	superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_adh_short,PatternScan_ADH_SHORT	p.S142F	ENST00000216500.5	37	c.425	CCDS9743.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.76|13.76	2.333180|2.333180	0.41297|0.41297	.|.	.|.	ENSG00000100612|ENSG00000100612	ENST00000557751;ENST00000554101|ENST00000216500;ENST00000360557;ENST00000557185;ENST00000536410	.|D;D;D	.|0.87809	.|-2.3;-2.3;-2.3	5.95|5.95	0.319|0.319	0.15873|0.15873	.|NAD(P)-binding domain (1);	.|1.026110	.|0.07688	.|N	.|0.938206	D|D	0.92459|0.92459	0.7606|0.7606	L|L	0.55017|0.55017	1.72|1.72	0.18873|0.18873	N|N	0.999984|0.999984	.|D;D	.|0.76494	.|0.999;0.998	.|D;D	.|0.73380	.|0.98;0.978	D|D	0.85900|0.85900	0.1434|0.1434	5|10	.|0.66056	.|D	.|0.02	.|.	19.8376|19.8376	0.96663|0.96663	0.0:0.5311:0.4689:0.0|0.0:0.5311:0.4689:0.0	.|.	.|142;142	.|F8W9Q4;Q9Y394	.|.;DHRS7_HUMAN	S|F	10;137|142;142;142;92	.|ENSP00000216500:S142F;ENSP00000451882:S142F;ENSP00000442993:S92F	.|ENSP00000216500:S142F	P|S	-|-	1|2	0|0	DHRS7|DHRS7	59689618|59689618	0.533000|0.533000	0.26354|0.26354	0.005000|0.005000	0.12908|0.12908	0.333000|0.333000	0.28666|0.28666	0.978000|0.978000	0.29488|0.29488	0.370000|0.370000	0.24538|0.24538	0.563000|0.563000	0.77884|0.77884	CCC|TCC	-	superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_adh_short		0.428	DHRS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRS7	protein_coding	OTTHUMT00000276947.2	G	NM_016029		59689618	-1	no_errors	NM_016029	genbank	human	validated	54_36p	missense	SNP	0.084	A
ARID3B	10620	genome.wustl.edu	37	15	74883703	74883703	+	Missense_Mutation	SNP	C	C	T			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr15:74883703C>T	ENST00000346246.5	+	6	1324	c.1093C>T	c.(1093-1095)Ctt>Ttt	p.L365F		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	365	Interaction with RB1.					nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CTTTCCCATCCTTGGGCTTGG	0.622																																																0			15											59.0	67.0	64.0					15																	74883703		2197	4295	6492	72670756	SO:0001583	missense	10620				CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"""-"""	14350	protein-coding gene	gene with protein product		612457	"""AT rich interactive domain 3B (BRIGHT- like)"""				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.1093C>T	15.37:g.74883703C>T	ENSP00000343126:p.Leu365Phe		72670756	O95443|Q59HC9|Q6P9C9	Missense_Mutation	SNP	superfamily_ARID-like,HMMPfam_ARID,HMMSmart_SM00501	p.L365F	ENST00000346246.5	37	c.1093	CCDS10264.1	15	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277472	0.59758	.	.	ENSG00000179361	ENST00000382537;ENST00000346246;ENST00000395077	T	0.50548	0.74	5.42	2.51	0.30379	.	0.364248	0.24323	N	0.039526	T	0.47581	0.1453	L	0.61218	1.895	0.30965	N	0.72325	D;P;P	0.56521	0.976;0.808;0.935	P;B;P	0.53689	0.462;0.261;0.732	T	0.50311	-0.8843	10	0.30854	T	0.27	-7.3792	1.9389	0.03342	0.1604:0.4026:0.2731:0.1638	.	365;365;365	B4DXL8;Q8IVW6;Q8IVW6-4	.;ARI3B_HUMAN;.	F	365	ENSP00000343126:L365F	ENSP00000343126:L365F	L	+	1	0	ARID3B	72670756	0.978000	0.34361	0.956000	0.39512	0.997000	0.91878	0.862000	0.27899	0.665000	0.31066	0.655000	0.94253	CTT	-	NULL		0.622	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID3B	protein_coding	OTTHUMT00000280688.2	C	NM_006465		72670756	+1	no_errors	NM_006465	genbank	human	reviewed	54_36p	missense	SNP	0.878	T
FPGT-TNNI3K	100526835	genome.wustl.edu	37	1	74834947	74834947	+	Splice_Site	SNP	C	C	T	rs79936844		TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr1:74834947C>T	ENST00000370899.3	+	17	1811	c.1774C>T	c.(1774-1776)Cgt>Tgt	p.R592C	TNNI3K_ENST00000370891.2_Splice_Site_p.R592C|RP11-439H8.4_ENST00000415549.2_RNA|FPGT-TNNI3K_ENST00000370895.1_Splice_Site_p.R592C|TNNI3K_ENST00000326637.3_Splice_Site_p.R491C|FPGT-TNNI3K_ENST00000557284.2_Splice_Site_p.R605C	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		GGCTATAAAACGGTAAGCAAG	0.333																																																0			1											41.0	46.0	44.0					1																	74834947		2202	4298	6500	74607535	SO:0001630	splice_region_variant	51086					1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.1775+1C>T	1.37:g.74834947C>T			74607535		Missense_Mutation	SNP	superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,PatternScan_PROTEIN_KINASE_ATP	p.R491C	ENST00000370899.3	37	c.1471		1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048150	0.75846	.	.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637;ENST00000534020	T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27	5.51	4.6	0.57074	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.115441	0.64402	N	0.000020	T	0.37073	0.0990	L	0.42744	1.35	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.996	T	0.29852	-0.9998	10	0.52906	T	0.07	.	9.0364	0.36291	0.1468:0.7794:0.0:0.0738	.	491;592;592;592	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3	TNI3K_HUMAN;.;.;.	C	592;592;592;592;491;15	ENSP00000359936:R592C;ENSP00000359932:R592C;ENSP00000450895:R592C;ENSP00000359928:R592C;ENSP00000322251:R491C;ENSP00000434975:R15C	ENSP00000322251:R491C	R	+	1	0	RP11-653A5.2;AC093158.1	74607535	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.050000	0.41297	1.326000	0.45319	0.650000	0.86243	CGT	-	superfamily_Kinase_like,HMMPfam_Pkinase_Tyr		0.333	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	TNNI3K	protein_coding	OTTHUMT00000026438.3	C		Missense_Mutation	74607535	+1	no_errors	NM_015978	genbank	human	validated	54_36p	missense	SNP	1.000	T
ERICH3	127254	genome.wustl.edu	37	1	75037442	75037442	+	Missense_Mutation	SNP	C	C	G			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr1:75037442C>G	ENST00000326665.5	-	14	4170	c.3952G>C	c.(3952-3954)Ggg>Cgg	p.G1318R	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1318	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCCATGTCCCCGTCCCCTTCC	0.557																																																0			1											264.0	231.0	242.0					1																	75037442		2203	4300	6503	74810030	SO:0001583	missense	127254																														ENST00000326665.5:c.3952G>C	1.37:g.75037442C>G	ENSP00000322609:p.Gly1318Arg		74810030	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	NULL	p.G1318R	ENST00000326665.5	37	c.3952	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	C	3.236	-0.156481	0.06544	.	.	ENSG00000178965	ENST00000326665	T	0.24908	1.83	1.58	-3.16	0.05217	.	.	.	.	.	T	0.02342	0.0072	N	0.08118	0	0.09310	N	1	B	0.14805	0.011	B	0.08055	0.003	T	0.44620	-0.9316	9	0.13853	T	0.58	.	3.3929	0.07295	0.0:0.2397:0.2235:0.5369	.	1318	Q5RHP9	CA173_HUMAN	R	1318	ENSP00000322609:G1318R	ENSP00000322609:G1318R	G	-	1	0	C1orf173	74810030	0.000000	0.05858	0.007000	0.13788	0.008000	0.06430	-2.005000	0.01460	-0.449000	0.07117	-0.448000	0.05591	GGG	-	NULL		0.557	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	protein_coding	OTTHUMT00000026516.1	C			74810030	-1	no_errors	NM_001002912	genbank	human	predicted	54_36p	missense	SNP	0.010	G
GRIK2	2898	genome.wustl.edu	37	6	101847184	101847184	+	Missense_Mutation	SNP	C	C	G			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr6:101847184C>G	ENST00000421544.1	+	1	521	c.31C>G	c.(31-33)Cca>Gca	p.P11A	GRIK2_ENST00000358361.3_Missense_Mutation_p.P11A|GRIK2_ENST00000369137.3_Missense_Mutation_p.P11A|GRIK2_ENST00000318991.6_Missense_Mutation_p.P11A|GRIK2_ENST00000369138.1_Missense_Mutation_p.P11A|GRIK2_ENST00000413795.1_Missense_Mutation_p.P11A	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	11					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TCTAAGTAATCCAGTCTTCAG	0.478																																																0			6											165.0	149.0	154.0					6																	101847184		2203	4300	6503	101953905	SO:0001583	missense	2898				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.31C>G	6.37:g.101847184C>G	ENSP00000397026:p.Pro11Ala		101953905	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan	p.P11A	ENST00000421544.1	37	c.31	CCDS5048.1	6	.	.	.	.	.	.	.	.	.	.	C	0.618	-0.822128	0.02755	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000358361;ENST00000369137;ENST00000318991;ENST00000403289	T;T;T;T;T;T	0.21932	2.9;2.84;2.79;1.98;3.08;2.84	5.02	5.02	0.67125	.	0.341850	0.25344	N	0.031353	T	0.03915	0.0110	N	0.08118	0	0.80722	D	1	B;B;B	0.10296	0.0;0.003;0.003	B;B;B	0.09377	0.0;0.004;0.002	T	0.35968	-0.9767	10	0.14656	T	0.56	.	10.5223	0.44927	0.0:0.8502:0.0:0.1498	.	11;11;11	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	A	11	ENSP00000397026:P11A;ENSP00000405596:P11A;ENSP00000358134:P11A;ENSP00000351128:P11A;ENSP00000358133:P11A;ENSP00000313276:P11A	ENSP00000313276:P11A	P	+	1	0	GRIK2	101953905	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.194000	0.51005	2.767000	0.95098	0.655000	0.94253	CCA	-	NULL		0.478	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK2	protein_coding	OTTHUMT00000043718.1	C			101953905	+1	no_errors	NM_021956	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
SORCS1	114815	genome.wustl.edu	37	10	108589395	108589395	+	Missense_Mutation	SNP	A	A	C			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr10:108589395A>C	ENST00000263054.6	-	3	670	c.663T>G	c.(661-663)aaT>aaG	p.N221K	SORCS1_ENST00000344440.6_Missense_Mutation_p.N221K	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	221					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CAACTTTATCATTCAGCTTCT	0.363																																																0			10											171.0	155.0	160.0					10																	108589395		2203	4300	6503	108579385	SO:0001583	missense	114815			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.663T>G	10.37:g.108589395A>C	ENSP00000263054:p.Asn221Lys		108579385	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	superfamily_SSF110296,HMMSmart_VPS10,HMMSmart_PKD,superfamily_PKD,HMMPfam_PKD	p.N221K	ENST00000263054.6	37	c.663	CCDS7559.1	10	.	.	.	.	.	.	.	.	.	.	A	20.2	3.951591	0.73787	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.32023	1.47;1.47	5.45	5.45	0.79879	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.40372	0.1114	L	0.43152	1.355	0.43275	D	0.995233	D;D;D;D;D	0.58970	0.973;0.984;0.984;0.973;0.984	P;P;P;P;P	0.59703	0.663;0.862;0.862;0.731;0.862	T	0.12682	-1.0538	9	.	.	.	-20.8025	10.2117	0.43145	0.9259:0.0:0.0741:0.0	.	221;221;221;221;221	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	K	221	ENSP00000263054:N221K;ENSP00000345964:N221K	.	N	-	3	2	SORCS1	108579385	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.769000	0.47654	2.201000	0.70794	0.533000	0.62120	AAT	-	superfamily_SSF110296,HMMSmart_VPS10		0.363	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS1	protein_coding	OTTHUMT00000050232.4	A	NM_052918		108579385	-1	no_errors	NM_001013031	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
SEMA5B	54437	genome.wustl.edu	37	3	122634453	122634453	+	Silent	SNP	G	G	T	rs570697826	byFrequency	TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr3:122634453G>T	ENST00000357599.3	-	14	2208	c.1822C>A	c.(1822-1824)Cgg>Agg	p.R608R	SEMA5B_ENST00000451055.2_Silent_p.R662R|SEMA5B_ENST00000195173.4_Silent_p.R608R	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	608					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CCCCCATCCCGTGTCACATTC	0.552																																																0			3											58.0	57.0	58.0					3																	122634453		2203	4300	6503	124117143	SO:0001819	synonymous_variant	54437			AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.1822C>A	3.37:g.122634453G>T			124117143	A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Silent	SNP	superfamily_Sema domain,HMMPfam_Sema,HMMSmart_SM00630,HMMPfam_PSI,HMMSmart_SM00423,superfamily_Plexin repeat,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1	p.R608	ENST00000357599.3	37	c.1822	CCDS35491.1	3																																																																																			-	superfamily_Plexin repeat,superfamily_TSP-1 type 1 repeat		0.552	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	SEMA5B	protein_coding	OTTHUMT00000277165.1	G	NM_001031702		124117143	-1	no_errors	NM_001031702	genbank	human	validated	54_36p	silent	SNP	0.006	T
IGSF9B	22997	genome.wustl.edu	37	11	133791091	133791091	+	Silent	SNP	G	G	A			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr11:133791091G>A	ENST00000321016.8	-	18	2759	c.2529C>T	c.(2527-2529)gcC>gcT	p.A843A	IGSF9B_ENST00000533871.2_Silent_p.A843A			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	843					homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TGGGCGTGGTGGCCTCTGCCT	0.647																																																0			11											68.0	74.0	72.0					11																	133791091		2164	4254	6418	133296301	SO:0001819	synonymous_variant	22997			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.2529C>T	11.37:g.133791091G>A			133296301	G5EA26	Silent	SNP	superfamily_SSF48726,HMMPfam_V-set,HMMSmart_IG,HMMPfam_I-set,HMMSmart_IGc2,HMMSmart_FN3,superfamily_FN_III-like,HMMPfam_fn3	p.A843	ENST00000321016.8	37	c.2529		11																																																																																			-	NULL		0.647	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	IGSF9B	protein_coding		G	XM_290502		133296301	-1	no_errors	NM_014987	genbank	human	validated	54_36p	silent	SNP	1.000	A
Unknown	0	genome.wustl.edu	37	10	135491060	135491060	+	IGR	SNP	T	T	G			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr10:135491060T>G								AL845259.1 (17881 upstream) : None (None downstream)																							GCAGGCGGCCTGTGCAACGCG	0.736																																																0			10											36.0	48.0	44.0					10																	135491060		1233	2294	3527	135341050	SO:0001628	intergenic_variant	26584																															10.37:g.135491060T>G			135341050		Missense_Mutation	SNP	superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox	p.L163R		37	c.488		10																																																																																			-	NULL	0	0.736					DUX1			T			135341050	+1	no_stop_codon	NM_012146	genbank	human	provisional	54_36p	missense	SNP	0.998	G
TUFT1	7286	genome.wustl.edu	37	1	151530397	151530397	+	Intron	SNP	G	G	A			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr1:151530397G>A	ENST00000368849.3	+	2	122				TUFT1_ENST00000538902.1_Intron|TUFT1_ENST00000368848.2_Intron|TUFT1_ENST00000392712.3_Intron|RP11-74C1.4_ENST00000434112.1_RNA|TUFT1_ENST00000353024.3_Intron	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1						bone mineralization (GO:0030282)|odontogenesis (GO:0042476)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	structural constituent of tooth enamel (GO:0030345)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGTTGAGGATGTGGTCAGCCA	0.448																																																0			1																																								149797021	SO:0001627	intron_variant	729374			AF254260	CCDS1000.1, CCDS44223.1	1q21	2008-02-05			ENSG00000143367	ENSG00000143367			12422	protein-coding gene	gene with protein product		600087				7919663	Standard	NM_020127		Approved		uc001eyl.3	Q9NNX1	OTTHUMG00000012536	ENST00000368849.3:c.61-4170G>A	1.37:g.151530397G>A			149797021	B2RD57|D3DV21|D3DV22|Q5T384|Q5T385|Q9BU28|Q9H5L1	RNA	SNP	-	NULL	ENST00000368849.3	37	NULL	CCDS1000.1	1																																																																																			-	-		0.448	TUFT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC729374	protein_coding	OTTHUMT00000035022.1	G	NM_020127		149797021	+1	pseudogene	XR_015991	genbank	human	model	54_36p	rna	SNP	1.000	A
SH2D2A	9047	genome.wustl.edu	37	1	156779283	156779283	+	Splice_Site	SNP	C	C	T			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr1:156779283C>T	ENST00000368199.3	-	7	868		c.e7-1		SH2D2A_ENST00000368198.3_Splice_Site|SH2D2A_ENST00000392306.2_Splice_Site	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A						angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCTGGGAGGGCTGGGAGAGAA	0.672																																																0			1											40.0	46.0	44.0					1																	156779283		2200	4299	6499	155045907	SO:0001630	splice_region_variant	9047			AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"""SH2 domain containing"""	10821	protein-coding gene	gene with protein product	"""T lymphocyte specific adaptor protein"", ""T cell specific adapter protein TSAd"", ""T cell specific adpater protein TSAd"""	604514	"""SH2 domain protein 2A"""			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.715-1G>A	1.37:g.156779283C>T			155045907	O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Splice_Site	SNP	-	e7-1	ENST00000368199.3	37	c.715-1	CCDS1159.1	1	.	.	.	.	.	.	.	.	.	.	C	9.328	1.059758	0.19987	.	.	ENSG00000027869	ENST00000368199;ENST00000368198;ENST00000392306	.	.	.	3.7	1.58	0.23477	.	.	.	.	.	.	.	.	.	.	.	0.24698	N	0.993271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.5532	0.12124	0.0:0.6404:0.2298:0.1298	.	.	.	.	.	-1	.	.	.	-	.	.	SH2D2A	155045907	0.003000	0.15002	0.006000	0.13384	0.248000	0.25809	1.404000	0.34623	0.878000	0.35920	0.555000	0.69702	.	-	-		0.672	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SH2D2A	protein_coding	OTTHUMT00000098982.1	C	NM_003975	Intron	155045907	-1	no_errors	NM_003975	genbank	human	provisional	54_36p	splice_site	SNP	0.002	T
PIK3C2B	5287	genome.wustl.edu	37	1	204402976	204402976	+	Missense_Mutation	SNP	T	T	C			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr1:204402976T>C	ENST00000367187.3	-	26	4344	c.3788A>G	c.(3787-3789)cAa>cGa	p.Q1263R	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.Q1235R|RP11-739N20.2_ENST00000443515.1_RNA	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1263	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GTTGTAGGCTTGGCAGCAAAG	0.532																																																0			1											164.0	148.0	154.0					1																	204402976		2203	4300	6503	202669599	SO:0001583	missense	5287			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.3788A>G	1.37:g.204402976T>C	ENSP00000356155:p.Gln1263Arg		202669599	O95666|Q5SW99	Missense_Mutation	SNP	superfamily_Ubiquitin-like,HMMPfam_PI3K_rbd,HMMSmart_SM00144,HMMSmart_SM00142,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PI3K_C2,superfamily_ARM repeat,HMMSmart_SM00145,HMMPfam_PI3Ka,superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2,superfamily_PX domain,HMMPfam_PX,HMMSmart_SM00312,HMMSmart_SM00239,HMMPfam_C2	p.Q1263R	ENST00000367187.3	37	c.3788	CCDS1446.1	1	.	.	.	.	.	.	.	.	.	.	T	14.28	2.488813	0.44249	.	.	ENSG00000133056	ENST00000367187;ENST00000391949;ENST00000424712	T;T	0.75938	-0.98;-0.98	5.89	3.52	0.40303	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.122077	0.56097	D	0.000040	T	0.62841	0.2461	N	0.21240	0.645	0.30935	N	0.726475	B;P	0.43231	0.104;0.801	B;P	0.45829	0.09;0.494	T	0.61242	-0.7102	10	0.27785	T	0.31	.	9.0506	0.36374	0.1246:0.0:0.1309:0.7446	.	1235;1263	F5GWN5;O00750	.;P3C2B_HUMAN	R	1263;41;1235	ENSP00000356155:Q1263R;ENSP00000400561:Q1235R	ENSP00000356155:Q1263R	Q	-	2	0	PIK3C2B	202669599	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.950000	0.87804	0.449000	0.26747	-0.313000	0.08912	CAA	-	superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146		0.532	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2B	protein_coding	OTTHUMT00000087965.1	T	NM_002646		202669599	-1	no_errors	NM_002646	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
IDH1	3417	genome.wustl.edu	37	2	209116263	209116263	+	Missense_Mutation	SNP	T	T	C			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr2:209116263T>C	ENST00000415913.1	-	3	394	c.13A>G	c.(13-15)Atc>Gtc	p.I5V	IDH1_ENST00000446179.1_Missense_Mutation_p.I5V|IDH1_ENST00000345146.2_Missense_Mutation_p.I5V	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	5					2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		CCGCCACTGATTTTTTTGGAC	0.318			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	0			2											45.0	51.0	49.0					2																	209116263		2197	4297	6494	208824508	SO:0001583	missense	3417				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.13A>G	2.37:g.209116263T>C	ENSP00000390265:p.Ile5Val		208824508	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	superfamily_Isocitrate/Isopropylmalate dehydrogenase-like,HMMPfam_Iso_dh,PatternScan_IDH_IMDH	p.I5V	ENST00000415913.1	37	c.13	CCDS2381.1	2	.	.	.	.	.	.	.	.	.	.	T	9.811	1.183273	0.21870	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282;ENST00000417583;ENST00000451391	T;T;T;D	0.83335	-1.11;-1.11;-1.11;-1.71	5.48	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.79381	0.4436	L	0.58354	1.805	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.74899	-0.3507	10	0.62326	D	0.03	-6.1322	11.0263	0.47746	0.0:0.0728:0.0:0.9272	.	5	O75874	IDHC_HUMAN	V	5	ENSP00000260985:I5V;ENSP00000410513:I5V;ENSP00000390265:I5V;ENSP00000391075:I5V	ENSP00000260985:I5V	I	-	1	0	IDH1	208824508	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	7.561000	0.82288	0.922000	0.37019	0.528000	0.53228	ATC	-	superfamily_Isocitrate/Isopropylmalate dehydrogenase-like		0.318	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IDH1	protein_coding	OTTHUMT00000336672.1	T			208824508	-1	no_errors	NM_005896	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
CXCR1	3577	genome.wustl.edu	37	2	219029137	219029137	+	Silent	SNP	G	G	A			TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr2:219029137G>A	ENST00000295683.2	-	2	918	c.798C>T	c.(796-798)acC>acT	p.T266T		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	266					cell surface receptor signaling pathway (GO:0007166)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|receptor internalization (GO:0031623)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13					Ketoprofen(DB01009)	TCCTCATGAGGGTGTCTGCCA	0.592																																																0			2											88.0	82.0	84.0					2																	219029137		2203	4300	6503	218737382	SO:0001819	synonymous_variant	3577			U11870	CCDS2409.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000163464	ENSG00000163464		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6026	protein-coding gene	gene with protein product		146929	"""interleukin 8 receptor, alpha"""	CMKAR1, IL8RA		1303245, 1427896	Standard	NM_000634		Approved	CKR-1, CDw128a, CD181	uc002vhc.3	P25024	OTTHUMG00000133108	ENST00000295683.2:c.798C>T	2.37:g.219029137G>A			218737382	B2R6Q3|Q2YEF8|Q2YEG4|Q2YEG5|Q2YEG7|Q2YEG8|Q53R18|Q6IN95|Q8N6T6|Q9P2T8|Q9P2T9|Q9P2U0|Q9P2U1|Q9P2U2	Silent	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.T266	ENST00000295683.2	37	c.798	CCDS2409.1	2																																																																																			-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.592	CXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL8RA	protein_coding	OTTHUMT00000256773.2	G	NM_000634		218737382	-1	no_errors	NM_000634	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
OR2T6	254879	genome.wustl.edu	37	1	248551111	248551111	+	Missense_Mutation	SNP	G	G	A	rs182818153		TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr1:248551111G>A	ENST00000355728.2	+	1	202	c.202G>A	c.(202-204)Gtc>Atc	p.V68I		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCACCTCTCCGTCATTGACAC	0.498																																																0			1											207.0	160.0	176.0					1																	248551111		2203	4300	6503	246617734	SO:0001583	missense	254879			AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.202G>A	1.37:g.248551111G>A	ENSP00000347965:p.Val68Ile		246617734	A6NE36	Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.V68I	ENST00000355728.2	37	c.202	CCDS31114.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.609	-0.825809	0.02734	.	.	ENSG00000198104	ENST00000355728	T	0.00551	6.65	4.38	-8.75	0.00834	GPCR, rhodopsin-like superfamily (1);	0.807607	0.10778	N	0.635167	T	0.00300	0.0009	N	0.11927	0.2	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42816	-0.9429	10	0.38643	T	0.18	.	7.4264	0.27102	0.0849:0.4788:0.2599:0.1764	.	68	Q8NHC8	OR2T6_HUMAN	I	68	ENSP00000347965:V68I	ENSP00000347965:V68I	V	+	1	0	OR2T6	246617734	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-1.413000	0.02473	-3.461000	0.00159	-2.248000	0.00284	GTC	-	superfamily_SSF81321,HMMPfam_7tm_1		0.498	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T6	protein_coding	OTTHUMT00000097344.1	G	NM_001005471		246617734	+1	no_errors	NM_001005471	genbank	human	provisional	54_36p	missense	SNP	0.000	A
GNRH2	2797	genome.wustl.edu	37	20	3026345	3026346	+	Frame_Shift_Ins	INS	-	-	GCCCC	rs544846287|rs67749149|rs16996832|rs377041343	byFrequency	TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr20:3026345_3026346insGCCCC	ENST00000245983.2	+	4	377_378	c.326_327insGCCCC	c.(325-330)gagcccfs	p.-111fs	GNRH2_ENST00000359987.1_Frame_Shift_Ins_p.-103fs|GNRH2_ENST00000380347.2_Frame_Shift_Ins_p.-104fs|GNRH2_ENST00000359100.2_Frame_Shift_Ins_p.-104fs|MRPS26_ENST00000380325.3_5'Flank|GNRH2_ENST00000380346.2_Frame_Shift_Ins_p.-103fs	NM_001501.1	NP_001492.1	O43555	GON2_HUMAN	gonadotropin-releasing hormone 2						multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			ovary(1)|upper_aerodigestive_tract(1)	2						GCAGCCCGAGAGCCCCGCCCCG	0.634														729	0.145567	0.0295	0.1571	5008	,	,		10164	0.2391		0.1014	False		,,,				2504	0.2434															0			20																																								2974346	SO:0001589	frameshift_variant	2797			AF036329	CCDS13040.1, CCDS13041.1, CCDS13042.1	20p13	2013-02-26			ENSG00000125787	ENSG00000125787		"""Endogenous ligands"""	4420	protein-coding gene	gene with protein product		602352				9419371, 12447356	Standard	NM_178331		Approved		uc002whr.1	O43555	OTTHUMG00000031723	ENST00000245983.2:c.337_341dupGCCCC	20.37:g.3026351_3026355dupGCCCC	ENSP00000245983:p.Arg111fs		2974345	Q14C68|Q14C69|Q9BYN9|Q9BYP0	Frame_Shift_Ins	INS	HMMPfam_GnRH,PatternScan_GNRH	p.P113fs	ENST00000245983.2	37	c.326_327	CCDS13040.1	20																																																																																			-	NULL		0.634	GNRH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GNRH2	protein_coding	OTTHUMT00000077694.2	-	NM_001501		2974346	+1	no_errors	NM_001501	genbank	human	reviewed	54_36p	frame_shift_ins	INS	0.000:0.001	GCCCC
ELF3	1999	genome.wustl.edu	37	1	201984365	201984376	+	In_Frame_Del	DEL	CGGGTGGATGGC	CGGGTGGATGGC	-	rs377240972|rs568626371		TCGA-09-1670-01A-01W-0633-09	TCGA-09-1670-10A-01W-0633-09	CGGGTGGATGGC	CGGGTGGATGGC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ef89d6bf-9785-41e0-bb9f-511a74c1e98d	b3416895-f1b5-4617-891b-8525835ed9f1	g.chr1:201984365_201984376delCGGGTGGATGGC	ENST00000359651.3	+	8	4222_4233	c.1030_1041delCGGGTGGATGGC	c.(1030-1041)cgggtggatggcdel	p.RVDG344del	ELF3_ENST00000367284.5_In_Frame_Del_p.RVDG344del|ELF3_ENST00000367283.3_In_Frame_Del_p.RVDG344del|RP11-510N19.5_ENST00000504773.1_RNA					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GATCCTGGAACGGGTGGATGGCCGGCGACTCG	0.575																																																0			1																																								200250999	SO:0001651	inframe_deletion	1999			AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.1030_1041delCGGGTGGATGGC	1.37:g.201984365_201984376delCGGGTGGATGGC	ENSP00000352673:p.Arg344_Gly347del		200250988		In_Frame_Del	DEL	"superfamily_SAM/Pointed domain,HMMPfam_SAM_PNT,HMMSmart_SM00251,superfamily_""Winged helix"" DNA-binding domain,HMMPfam_Ets,HMMSmart_SM00413"	p.VDGR345in_frame_del	ENST00000359651.3	37	c.1030_1041	CCDS1419.1	1																																																																																			(deletion:cds_exon[200250960,200251074])	"superfamily_""Winged helix"" DNA-binding domain,HMMPfam_Ets,HMMSmart_SM00413"		0.575	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ELF3	protein_coding	OTTHUMT00000087360.1	CGGGTGGATGGC	NM_004433		200250999	+1	no_errors	NM_004433	genbank	human	validated	54_36p	in_frame_del	DEL	1.000:1.000:0.872:1.000:1.000:0.997:1.000:1.000:0.997:1.000:1.000:1.000	-
