#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TPTE2P6	374491	broad.mit.edu	37	13	25161457	25161457	+	RNA	SNP	G	G	A	rs1851732		TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr13:25161457G>A	ENST00000453498.1	+	0	981				TPTE2P6_ENST00000440905.1_RNA																							TTATTTATTCGATTCGTGGTA	0.378																																						ENST00000453498.1																			0																																																			0							g.chr13:25161457G>A																													13.37:g.25161457G>A														0	981	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.378	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			4	45	0	0	0	1	0	4	45				
ESYT1	23344	broad.mit.edu	37	12	56525276	56525276	+	Missense_Mutation	SNP	C	C	T			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr12:56525276C>T	ENST00000394048.5	+	6	994	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	RP11-603J24.5_ENST00000549438.1_RNA|ESYT1_ENST00000267113.4_Missense_Mutation_p.R244W|RP11-603J24.5_ENST00000550947.1_RNA|ESYT1_ENST00000541590.1_Missense_Mutation_p.R244W	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	244	Glycerophospholipid-binding barrel-like domain. {ECO:0000250}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TGGCGTTTTGCGGGTGATACT	0.517																																						ENST00000394048.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						c.(730-732)Cgg>Tgg		extended synaptotagmin-like protein 1							192.0	199.0	197.0					12																	56525276		2203	4300	6503	SO:0001583	missense	23344					integral to membrane		g.chr12:56525276C>T	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.730C>T	12.37:g.56525276C>T	ENSP00000377612:p.Arg244Trp					ESYT1_ENST00000267113.4_Missense_Mutation_p.R244W|ESYT1_ENST00000541590.1_Missense_Mutation_p.R244W	p.R244W	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN			6	994	+			244					A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	37	c.730C>T	CCDS8904.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.426900	0.62733	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	D;D;D	0.82619	-1.63;-1.63;-1.63	5.78	4.85	0.62838	.	0.113750	0.64402	D	0.000016	D	0.91630	0.7355	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.92360	0.5896	10	0.87932	D	0	-26.1118	15.8705	0.79117	0.1355:0.8644:0.0:0.0	.	244;244	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	W	244;198;244;244	ENSP00000377612:R244W;ENSP00000267113:R244W;ENSP00000445952:R244W	ENSP00000267113:R244W	R	+	1	2	ESYT1	54811543	1.000000	0.71417	1.000000	0.80357	0.092000	0.18411	2.663000	0.46774	2.906000	0.99361	0.655000	0.94253	CGG		0.517	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		4	180	0	0	0	1	0	4	180				
ZAN	7455	broad.mit.edu	37	7	100348461	100348461	+	RNA	SNP	G	G	A			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr7:100348461G>A	ENST00000348028.3	+	0	1628				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGGTCTCAGCGCCCTTACTGG	0.622																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							33.0	35.0	34.0					7																	100348461		1988	4137	6125			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100348461G>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100348461G>A						ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	1611	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	G	10.08	1.252330	0.22880	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.02032	4.49;4.49;4.49	4.52	2.46	0.29980	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.857514	0.09920	N	0.738573	T	0.02533	0.0077	L	0.39898	1.24	0.20196	N	0.999926	P;P	0.47604	0.876;0.898	B;B	0.39738	0.205;0.308	T	0.49790	-0.8902	10	0.46703	T	0.11	.	7.4567	0.27270	0.231:0.0:0.769:0.0	.	488;488	F5H0T8;Q9Y493	.;ZAN_HUMAN	H	488	ENSP00000445943:R488H;ENSP00000445091:R488H;ENSP00000444427:R488H	ENSP00000423579:R488H	R	+	2	0	ZAN	100186397	0.048000	0.20356	0.069000	0.20011	0.191000	0.23601	0.257000	0.18369	0.475000	0.27415	0.650000	0.86243	CGC		0.622	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		17	21	0	0	0	1	0	17	21				
FLG	2312	broad.mit.edu	37	1	152280155	152280155	+	Missense_Mutation	SNP	G	G	A	rs372607458		TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr1:152280155G>A	ENST00000368799.1	-	3	7242	c.7207C>T	c.(7207-7209)Cgg>Tgg	p.R2403W	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2403	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGCTGACCGGCCACGTGTG	0.597									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(7207-7209)Cgg>Tgg		filaggrin		G	TRP/ARG	0,4406		0,0,2203	92.0	93.0	92.0		7207	2.7	0.0	1		92	1,8593	1.2+/-3.3	0,1,4296	no	missense	FLG	NM_002016.1	101	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	2403/4062	152280155	1,12999	2203	4297	6500	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152280155G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7207C>T	1.37:g.152280155G>A	ENSP00000357789:p.Arg2403Trp					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.R2403W	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7242	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2403			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.7207C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.440669	0.25900	0.0	1.16E-4	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.01787	4.64	3.65	2.68	0.31781	.	.	.	.	.	T	0.01523	0.0049	M	0.68317	2.08	0.09310	N	1	D	0.71674	0.998	P	0.47864	0.559	T	0.47573	-0.9107	9	0.72032	D	0.01	.	8.1028	0.30868	0.0:0.0:0.7468:0.2532	.	2403	P20930	FILA_HUMAN	W	2403;313	ENSP00000357789:R2403W	ENSP00000271820:R313W	R	-	1	2	FLG	150546779	0.004000	0.15560	0.001000	0.08648	0.007000	0.05969	0.649000	0.24843	0.813000	0.34350	0.485000	0.47835	CGG		0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		131	89	0	0	0	1	0	131	89				
SPTBN4	57731	broad.mit.edu	37	19	41012265	41012265	+	Silent	SNP	C	C	T	rs367848757		TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr19:41012265C>T	ENST00000352632.3	+	13	1874	c.1788C>T	c.(1786-1788)gcC>gcT	p.A596A	SPTBN4_ENST00000344104.3_Silent_p.A596A|SPTBN4_ENST00000338932.3_Silent_p.A596A|SPTBN4_ENST00000595535.1_Silent_p.A596A|SPTBN4_ENST00000598249.1_Silent_p.A596A			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	596					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTCTCAATGCCGCTGCCCTGC	0.632																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(1786-1788)gcC>gcT		spectrin, beta, non-erythrocytic 4							54.0	52.0	53.0					19																	41012265		2203	4300	6503	SO:0001819	synonymous_variant	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41012265C>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.1788C>T	19.37:g.41012265C>T						SPTBN4_ENST00000598249.1_Silent_p.A596A|SPTBN4_ENST00000338932.3_Silent_p.A596A|SPTBN4_ENST00000344104.3_Silent_p.A596A|SPTBN4_ENST00000595535.1_Silent_p.A596A	p.A596A			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		13	1874	+			596					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	37	c.1788C>T	CCDS12559.1																																																																																				0.632	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			15	8	0	0	0	1	0	15	8				
EIF4A1	1973	broad.mit.edu	37	17	7481180	7481180	+	Missense_Mutation	SNP	T	T	G			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr17:7481180T>G	ENST00000293831.8	+	9	958	c.942T>G	c.(940-942)atT>atG	p.I314M	CD68_ENST00000380498.6_5'Flank|EIF4A1_ENST00000577269.1_Missense_Mutation_p.I314M|SNORA67_ENST00000384423.1_RNA|SNORD10_ENST00000459579.1_RNA|EIF4A1_ENST00000582746.1_Missense_Mutation_p.I314M|SENP3-EIF4A1_ENST00000579777.1_RNA|CD68_ENST00000250092.6_5'Flank|EIF4A1_ENST00000581808.1_3'UTR	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	314	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						GAGACGTGATTATGAGGGAGT	0.498																																					Melanoma(120;278 1668 15796 27423 46368)	ENST00000293831.8																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						c.(940-942)atT>atG		eukaryotic translation initiation factor 4A1							90.0	78.0	82.0					17																	7481180		2203	4300	6503	SO:0001583	missense	1973				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity	g.chr17:7481180T>G	D13748	CCDS11113.1, CCDS58511.1	17p13	2012-02-23	2010-02-10		ENSG00000161960	ENSG00000161960		"""DEAD-boxes"""	3282	protein-coding gene	gene with protein product		602641	"""eukaryotic translation initiation factor 4A, isoform 1"""	EIF4A		8493113, 9790779	Standard	NM_001416		Approved	DDX2A, EIF-4A		P60842	OTTHUMG00000108149	ENST00000293831.8:c.942T>G	17.37:g.7481180T>G	ENSP00000293831:p.Ile314Met					EIF4A1_ENST00000582746.1_Missense_Mutation_p.I314M|EIF4A1_ENST00000577269.1_Missense_Mutation_p.I314M|SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000581808.1_3'UTR	p.I314M	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN			9	958	+			314			Helicase C-terminal.		B2R6L8|D3DTP9|J3QLC4|P04765|Q5U018|Q61516	Missense_Mutation	SNP	ENST00000293831.8	37	c.942T>G	CCDS11113.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.292880	0.40594	.	.	ENSG00000161960	ENST00000293831;ENST00000396527	T	0.79653	-1.29	5.35	5.35	0.76521	Helicase, C-terminal (3);	0.046522	0.85682	D	0.000000	T	0.81240	0.4781	L	0.37800	1.135	0.80722	D	1	P;P;P	0.51933	0.949;0.847;0.818	P;P;P	0.58520	0.84;0.68;0.573	T	0.81961	-0.0693	10	0.87932	D	0	-12.6614	8.4474	0.32849	0.0:0.8245:0.0:0.1755	.	314;314;314	A8K7F6;A8K088;P60842	.;.;IF4A1_HUMAN	M	314;177	ENSP00000293831:I314M	ENSP00000293831:I314M	I	+	3	3	EIF4A1	7421904	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.072000	0.50049	1.282000	0.44496	-0.215000	0.12644	ATT		0.498	EIF4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226952.6	NM_001416		19	46	0	0	0	1	0	19	46				
ZBTB18	10472	broad.mit.edu	37	1	244218559	244218559	+	Missense_Mutation	SNP	C	C	T			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr1:244218559C>T	ENST00000358704.4	+	2	1632	c.1483C>T	c.(1483-1485)Cgc>Tgc	p.R495C		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	486					cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CAGACACATTCGCAAGTTCCA	0.577																																						ENST00000358704.4																			0											c.(1483-1485)Cgc>Tgc		zinc finger and BTB domain containing 18							81.0	80.0	80.0					1																	244218559		2203	4300	6503	SO:0001583	missense	10472							g.chr1:244218559C>T	U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13030	protein-coding gene	gene with protein product		608433	"""zinc finger protein 238"""	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.1483C>T	1.37:g.244218559C>T	ENSP00000351539:p.Arg495Cys						p.R495C	NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1					2	1632	+								A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Missense_Mutation	SNP	ENST00000358704.4	37	c.1483C>T	CCDS1622.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.66|16.66	3.185914|3.185914	0.57909|0.57909	.|.	.|.	ENSG00000179456|ENSG00000179456	ENST00000358704|ENST00000366538	T|.	0.11063|.	2.81|.	5.78|5.78	5.78|5.78	0.91487|0.91487	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.43010|0.43010	0.1228|0.1228	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.80764|.	0.985;0.994|.	T|T	0.48043|0.48043	-0.9069|-0.9069	10|6	0.87932|0.51188	D|T	0|0.08	.|.	14.8071|14.8071	0.69965|0.69965	0.144:0.856:0.0:0.0|0.144:0.856:0.0:0.0	.|.	486;495|.	Q99592;Q99592-2|.	ZN238_HUMAN;.|.	C|L	495|483	ENSP00000351539:R495C|.	ENSP00000351539:R495C|ENSP00000355496:S483L	R|S	+|+	1|2	0|0	ZNF238|ZNF238	242285182|242285182	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.725000|4.725000	0.61979|0.61979	2.749000|2.749000	0.94314|0.94314	0.655000|0.655000	0.94253|0.94253	CGC|TCG		0.577	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096513.2	NM_205768		22	41	0	0	0	1	0	22	41				
DYSF	8291	broad.mit.edu	37	2	71896841	71896841	+	Silent	SNP	C	C	T			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr2:71896841C>T	ENST00000258104.3	+	50	5909	c.5632C>T	c.(5632-5634)Ctg>Ttg	p.L1878L	DYSF_ENST00000409366.1_Silent_p.L1900L|DYSF_ENST00000394120.2_Silent_p.L1879L|DYSF_ENST00000409651.1_Silent_p.L1910L|DYSF_ENST00000410041.1_Silent_p.L1896L|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Silent_p.L1909L|DYSF_ENST00000409744.1_Silent_p.L1886L|DYSF_ENST00000409582.3_Silent_p.L1916L|DYSF_ENST00000409762.1_Silent_p.L1895L|DYSF_ENST00000410020.3_Silent_p.L1917L|DYSF_ENST00000429174.2_Silent_p.L1899L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1878	C2 7. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CTTCGACTACCTGCCAGCTGA	0.512																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(5632-5634)Ctg>Ttg		dysferlin							189.0	155.0	166.0					2																	71896841		2203	4300	6503	SO:0001819	synonymous_variant	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71896841C>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.5632C>T	2.37:g.71896841C>T						DYSF_ENST00000409762.1_Silent_p.L1895L|DYSF_ENST00000409651.1_Silent_p.L1910L|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409366.1_Silent_p.L1900L|DYSF_ENST00000394120.2_Silent_p.L1879L|DYSF_ENST00000413539.2_Silent_p.L1909L|DYSF_ENST00000410020.3_Silent_p.L1917L|DYSF_ENST00000409744.1_Silent_p.L1886L|DYSF_ENST00000409582.3_Silent_p.L1916L|DYSF_ENST00000410041.1_Silent_p.L1896L|DYSF_ENST00000429174.2_Silent_p.L1899L	p.L1878L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			50	5909	+			1878					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	37	c.5632C>T	CCDS1918.1																																																																																				0.512	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		25	50	0	0	0	1	0	25	50				
C2orf76	130355	broad.mit.edu	37	2	120078765	120078765	+	Missense_Mutation	SNP	G	G	C			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr2:120078765G>C	ENST00000409466.2	-	4	670	c.149C>G	c.(148-150)aCc>aGc	p.T50S	C2orf76_ENST00000409877.1_Missense_Mutation_p.T50S|C2orf76_ENST00000409523.1_Missense_Mutation_p.T50S|C2orf76_ENST00000334816.7_Missense_Mutation_p.T50S			Q3KRA6	CB076_HUMAN	chromosome 2 open reading frame 76	50										large_intestine(1)|lung(3)|pancreas(1)	5						TGGCAGGTTGGTCCTTAAAGG	0.269																																						ENST00000409466.2																			0				large_intestine(1)|lung(3)|pancreas(1)	5						c.(148-150)aCc>aGc		chromosome 2 open reading frame 76							78.0	75.0	76.0					2																	120078765		1788	4061	5849	SO:0001583	missense	130355							g.chr2:120078765G>C		CCDS42739.1	2q14.2	2011-05-09			ENSG00000186132	ENSG00000186132			27017	protein-coding gene	gene with protein product						12477932	Standard	NM_001017927		Approved	MGC104437, LOC130355, AIM29	uc002tls.2	Q3KRA6	OTTHUMG00000153298	ENST00000409466.2:c.149C>G	2.37:g.120078765G>C	ENSP00000386302:p.Thr50Ser					C2orf76_ENST00000409523.1_Missense_Mutation_p.T50S|C2orf76_ENST00000409877.1_Missense_Mutation_p.T50S|C2orf76_ENST00000334816.7_Missense_Mutation_p.T50S	p.T50S			Q3KRA6	CB076_HUMAN			4	670	-			50					B7ZLS8|Q4VC35	Missense_Mutation	SNP	ENST00000409466.2	37	c.149C>G	CCDS42739.1	.	.	.	.	.	.	.	.	.	.	G	7.989	0.752807	0.15778	.	.	ENSG00000186132	ENST00000409466;ENST00000334816;ENST00000409877;ENST00000409523;ENST00000414534	T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63	4.86	4.86	0.63082	.	0.402907	0.28736	N	0.014304	T	0.22244	0.0536	L	0.33137	0.985	0.30395	N	0.780637	B	0.09022	0.002	B	0.11329	0.006	T	0.08534	-1.0717	10	0.10902	T	0.67	-0.8526	13.6928	0.62556	0.0:0.0:1.0:0.0	.	50	Q3KRA6	CB076_HUMAN	S	50;50;50;50;79	ENSP00000386302:T50S;ENSP00000335041:T50S;ENSP00000387234:T50S;ENSP00000386714:T50S;ENSP00000388482:T79S	ENSP00000335041:T50S	T	-	2	0	C2orf76	119795235	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.368000	0.52357	2.679000	0.91253	0.650000	0.86243	ACC		0.269	C2orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330582.2	NM_001017927		17	27	0	0	0	1	0	17	27				
EDNRA	1909	broad.mit.edu	37	4	148407074	148407074	+	Missense_Mutation	SNP	T	T	G			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr4:148407074T>G	ENST00000324300.5	+	2	756	c.241T>G	c.(241-243)Tac>Gac	p.Y81D	EDNRA_ENST00000506066.1_Missense_Mutation_p.Y81D|EDNRA_ENST00000339690.5_Missense_Mutation_p.Y81D|EDNRA_ENST00000511804.1_Intron|EDNRA_ENST00000358556.4_Missense_Mutation_p.Y81D	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	81					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|glomerular filtration (GO:0003094)|glucose transport (GO:0015758)|head development (GO:0060322)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|maternal process involved in parturition (GO:0060137)|metabolic process (GO:0008152)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP biosynthetic process (GO:0030818)|neural crest cell development (GO:0014032)|patterning of blood vessels (GO:0001569)|penile erection (GO:0043084)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of kidney development (GO:0090184)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of odontogenesis (GO:0042482)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|smooth muscle cell proliferation (GO:0048659)|smooth muscle contraction (GO:0006939)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	endothelin receptor activity (GO:0004962)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Acetylsalicylic acid(DB00945)|Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	AGCTTTCAAATACATTAACAC	0.418																																						ENST00000324300.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17						c.(241-243)Tac>Gac		endothelin receptor type A	Bosentan(DB00559)						155.0	147.0	150.0					4																	148407074		2203	4300	6503	SO:0001583	missense	1909				activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity	g.chr4:148407074T>G	D90348	CCDS3769.1, CCDS54810.1, CCDS58927.1	4q31.22	2013-09-20			ENSG00000151617	ENSG00000151617		"""GPCR / Class A : Endothelin receptors"""	3179	protein-coding gene	gene with protein product		131243				1659806	Standard	NM_001957		Approved		uc003iky.3	P25101	OTTHUMG00000161354	ENST00000324300.5:c.241T>G	4.37:g.148407074T>G	ENSP00000315011:p.Tyr81Asp					EDNRA_ENST00000506066.1_Missense_Mutation_p.Y81D|EDNRA_ENST00000358556.4_Missense_Mutation_p.Y81D|EDNRA_ENST00000511804.1_Intron|EDNRA_ENST00000339690.5_Missense_Mutation_p.Y81D	p.Y81D	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN		GBM - Glioblastoma multiforme(119;0.154)	2	756	+	all_hematologic(180;0.151)		81					B2R723|B4E2V6|B7Z9G6|D3DP03|E7ER36|O43441|Q16432|Q16433|Q8TBH2	Missense_Mutation	SNP	ENST00000324300.5	37	c.241T>G	CCDS3769.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.357658	0.82243	.	.	ENSG00000151617	ENST00000358556;ENST00000339690;ENST00000394047;ENST00000324300;ENST00000506066	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.61048	0.2316	M	0.72479	2.2	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.997	T	0.63924	-0.6527	10	0.72032	D	0.01	-22.3923	16.4484	0.83959	0.0:0.0:0.0:1.0	.	81;81;81	P25101-4;P25101-2;P25101	.;.;EDNRA_HUMAN	D	81	ENSP00000351359:Y81D;ENSP00000341556:Y81D;ENSP00000315011:Y81D;ENSP00000425281:Y81D	ENSP00000315011:Y81D	Y	+	1	0	EDNRA	148626524	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.649000	0.83500	2.285000	0.76669	0.533000	0.62120	TAC		0.418	EDNRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364635.1			4	118	0	0	0	1	0	4	118				
DIS3L	115752	broad.mit.edu	37	15	66618626	66618626	+	Missense_Mutation	SNP	C	C	T			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr15:66618626C>T	ENST00000319212.4	+	12	2175	c.2125C>T	c.(2125-2127)Cac>Tac	p.H709Y	DIS3L_ENST00000319194.5_Missense_Mutation_p.H626Y|RP11-352G18.2_ENST00000565993.1_RNA	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	709					RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCTGCGCCAGCACCCTCCTCC	0.537																																						ENST00000319194.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1876-1878)Cac>Tac		DIS3 mitotic control homolog (S. cerevisiae)-like							59.0	62.0	61.0					15																	66618626		2201	4299	6500	SO:0001583	missense	115752				rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding	g.chr15:66618626C>T		CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"""DIS3 mitotic control homolog (S. cerevisiae)-like"""			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.2125C>T	15.37:g.66618626C>T	ENSP00000321711:p.His709Tyr					DIS3L_ENST00000319212.4_Missense_Mutation_p.H709Y|RP11-352G18.2_ENST00000565993.1_RNA	p.H626Y	NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN			12	2137	+			709					Q8N1N8|Q8WTU9|Q96CM7	Missense_Mutation	SNP	ENST00000319212.4	37	c.1876C>T	CCDS45286.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.032819	0.93575	.	.	ENSG00000166938	ENST00000319194;ENST00000319212	T;T	0.53206	0.63;0.63	5.69	5.69	0.88448	Ribonuclease II/R (2);	0.135414	0.64402	N	0.000002	T	0.81945	0.4930	H	0.98664	4.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.989;0.989	D	0.88787	0.3275	10	0.87932	D	0	-30.7845	18.7966	0.91997	0.0:1.0:0.0:0.0	.	709;575;709	Q8TF46;Q8TF46-2;Q8TF46-3	DI3L1_HUMAN;.;.	Y	626;709	ENSP00000321583:H626Y;ENSP00000321711:H709Y	ENSP00000321583:H626Y	H	+	1	0	DIS3L	64405680	1.000000	0.71417	0.948000	0.38648	0.993000	0.82548	7.708000	0.84633	2.687000	0.91594	0.462000	0.41574	CAC		0.537	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382792.2	NM_133375		8	64	0	0	0	1	0	8	64				
ANKRD20A8P	729171	broad.mit.edu	37	2	95494763	95494763	+	RNA	SNP	T	T	C			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr2:95494763T>C	ENST00000432432.2	-	0	1181					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		GCTCTCAATGTCTGTACATTC	0.323																																						ENST00000432432.2																			0																																																			0							g.chr2:95494763T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95494763T>C								NR_040113.1						0	1181	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.323	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			67	115	0	0	0	1	0	67	115				
MAN2B2	23324	broad.mit.edu	37	4	6596402	6596402	+	Missense_Mutation	SNP	G	G	A			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr4:6596402G>A	ENST00000285599.3	+	7	1036	c.1000G>A	c.(1000-1002)Gct>Act	p.A334T	MAN2B2_ENST00000504248.1_Missense_Mutation_p.A283T	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	334					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						TGCCCTGCACGCTCTCAATGT	0.622																																						ENST00000285599.3																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(1000-1002)Gct>Act		mannosidase, alpha, class 2B, member 2							108.0	83.0	92.0					4																	6596402		2203	4300	6503	SO:0001583	missense	23324				mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	g.chr4:6596402G>A	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"""core-specific lysosomal alpha-1,6-Mannosidase"""					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.1000G>A	4.37:g.6596402G>A	ENSP00000285599:p.Ala334Thr					MAN2B2_ENST00000504248.1_Missense_Mutation_p.A283T	p.A334T	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN			7	1036	+			334					Q66MP2|Q86T67	Missense_Mutation	SNP	ENST00000285599.3	37	c.1000G>A	CCDS33951.1	.	.	.	.	.	.	.	.	.	.	G	8.618	0.890837	0.17613	.	.	ENSG00000013288	ENST00000285599;ENST00000504248	T;T	0.23950	1.88;1.88	4.43	1.72	0.24424	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	1.019020	0.07795	N	0.955494	T	0.23330	0.0564	L	0.60904	1.88	0.09310	N	1	B;B;B	0.20988	0.024;0.024;0.05	B;B;B	0.14578	0.007;0.011;0.005	T	0.37776	-0.9691	10	0.15066	T	0.55	-0.0361	7.3384	0.26623	0.4922:0.0:0.5078:0.0	.	283;334;334	E9PCD7;Q9Y2E5;Q9Y2E5-2	.;MA2B2_HUMAN;.	T	334;283	ENSP00000285599:A334T;ENSP00000423129:A283T	ENSP00000285599:A334T	A	+	1	0	MAN2B2	6647303	0.000000	0.05858	0.001000	0.08648	0.961000	0.63080	0.251000	0.18257	0.020000	0.15106	0.472000	0.43445	GCT		0.622	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274		8	23	0	0	0	1	0	8	23				
HAX1	10456	broad.mit.edu	37	1	154246290	154246290	+	Silent	SNP	A	A	T			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr1:154246290A>T	ENST00000328703.7	+	3	570	c.357A>T	c.(355-357)ctA>ctT	p.L119L	HAX1_ENST00000483970.2_Silent_p.L127L|HAX1_ENST00000457918.2_Silent_p.L71L|HAX1_ENST00000532105.1_De_novo_Start_OutOfFrame	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	119	Involved in HCLS1 binding.				cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GTGAGAGACTACGGGAGGGAC	0.512									Kostmann syndrome																													ENST00000532105.1																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15								HCLS1 associated protein X-1							86.0	91.0	89.0					1																	154246290		2203	4300	6503	SO:0001819	synonymous_variant	10456	Kostmann syndrome	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis		actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding	g.chr1:154246290A>T	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"""HCLS1 (and PKD2) associated protein"""	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.357A>T	1.37:g.154246290A>T						HAX1_ENST00000457918.2_Silent_p.L71L|HAX1_ENST00000328703.7_Silent_p.L119L|HAX1_ENST00000483970.2_Silent_p.L127L				O00165	HAX1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		0	150	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)							A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	Translation_Start_Site	SNP	ENST00000328703.7	37		CCDS1064.1	.	.	.	.	.	.	.	.	.	.	A	10.46	1.357452	0.24598	.	.	ENSG00000143575	ENST00000435087	T	0.51071	0.72	5.88	-2.27	0.06846	.	.	.	.	.	T	0.03651	0.0104	.	.	.	0.21861	N	0.999503	.	.	.	.	.	.	T	0.30446	-0.9978	6	0.02654	T	1	-7.2944	1.3146	0.02104	0.3721:0.2471:0.2543:0.1266	.	.	.	.	F	98	ENSP00000394920:Y98F	ENSP00000394920:Y98F	Y	+	2	0	HAX1	152512914	0.009000	0.17119	0.063000	0.19743	0.985000	0.73830	-0.024000	0.12435	-0.353000	0.08224	-0.132000	0.14878	TAC		0.512	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087650.1	NM_006118		4	82	0	0	0	1	0	4	82				
TLK2	11011	broad.mit.edu	37	17	60650604	60650604	+	Missense_Mutation	SNP	G	G	A			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr17:60650604G>A	ENST00000326270.9	+	12	1265	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	TLK2_ENST00000582809.1_Missense_Mutation_p.E184K|TLK2_ENST00000346027.5_Missense_Mutation_p.E333K|TLK2_ENST00000343388.7_Missense_Mutation_p.E301K|TLK2_ENST00000542523.1_Missense_Mutation_p.E301K	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	333					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TTCACAGAGGGAAGAGATAGA	0.428																																						ENST00000582809.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						c.(550-552)Gaa>Aaa		tousled-like kinase 2							45.0	41.0	42.0					17																	60650604		2203	4300	6503	SO:0001583	missense	11011				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:60650604G>A	AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.997G>A	17.37:g.60650604G>A	ENSP00000316512:p.Glu333Lys					TLK2_ENST00000542523.1_Missense_Mutation_p.E301K|TLK2_ENST00000346027.5_Missense_Mutation_p.E333K|TLK2_ENST00000343388.7_Missense_Mutation_p.E301K|TLK2_ENST00000326270.9_Missense_Mutation_p.E333K	p.E184K			Q86UE8	TLK2_HUMAN			13	1253	+			333					D3DU07|Q9UKI7|Q9Y4F7	Missense_Mutation	SNP	ENST00000326270.9	37	c.550G>A		.	.	.	.	.	.	.	.	.	.	G	18.90	3.721308	0.68959	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	T;T;T;T	0.68025	-0.24;-0.27;-0.3;-0.27	6.08	6.08	0.98989	.	0.046577	0.85682	D	0.000000	T	0.80330	0.4603	L	0.58428	1.81	0.80722	D	1	D;B;B;P	0.71674	0.998;0.357;0.357;0.855	D;B;B;B	0.81914	0.995;0.32;0.219;0.348	T	0.77600	-0.2527	10	0.45353	T	0.12	.	19.6516	0.95815	0.0:0.0:1.0:0.0	.	333;301;333;333	Q86UE8;Q86UE8-3;Q86UE8-2;D3DU05	TLK2_HUMAN;.;.;.	K	333;301;333;301	ENSP00000275780:E333K;ENSP00000340800:E301K;ENSP00000316512:E333K;ENSP00000442311:E301K	ENSP00000316512:E333K	E	+	1	0	TLK2	58004336	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.787000	0.99055	2.894000	0.99253	0.655000	0.94253	GAA		0.428	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1	NM_006852		9	11	0	0	0	1	0	9	11				
OR5AS1	219447	broad.mit.edu	37	11	55797924	55797924	+	Silent	SNP	T	T	C			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr11:55797924T>C	ENST00000313555.1	+	1	30	c.30T>C	c.(28-30)acT>acC	p.T10T		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					CCATGCCAACTGAGTTCCTAT	0.383																																						ENST00000313555.1																			0				endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48						c.(28-30)acT>acC		olfactory receptor, family 5, subfamily AS, member 1							100.0	96.0	97.0					11																	55797924		2201	4296	6497	SO:0001819	synonymous_variant	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55797924T>C	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.30T>C	11.37:g.55797924T>C							p.T10T	NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN			1	30	+	Esophageal squamous(21;0.00693)		10					Q6IFB8	Silent	SNP	ENST00000313555.1	37	c.30T>C	CCDS31516.1																																																																																				0.383	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		18	47	0	0	0	1	0	18	47				
RP11-467N20.5	0	broad.mit.edu	37	15	23412171	23412171	+	Missense_Mutation	SNP	C	C	T			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr15:23412171C>T	ENST00000558241.1	-	2	376	c.286G>A	c.(286-288)Ggt>Agt	p.G96S																	endometrium(1)	1						TGGCAACCACCAGAAGTGGTT	0.532																																						ENST00000558241.1																			0				endometrium(1)	1						c.(286-288)Ggt>Agt																																						SO:0001583	missense	0							g.chr15:23412171C>T																												ENST00000558241.1:c.286G>A	15.37:g.23412171C>T	ENSP00000453436:p.Gly96Ser						p.G96S							2	376	-									Missense_Mutation	SNP	ENST00000558241.1	37	c.286G>A																																																																																					0.532	RP11-467N20.5-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000415942.1			29	30	0	0	0	1	0	29	30				
FAM207A	85395	broad.mit.edu	37	21	46363734	46363734	+	Missense_Mutation	SNP	G	G	A	rs140146705	byFrequency	TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr21:46363734G>A	ENST00000291634.6	+	2	313	c.265G>A	c.(265-267)Gtc>Atc	p.V89I	FAM207A_ENST00000397826.3_Intron	NM_058190.2	NP_478070.1	Q9NSI2	F207A_HUMAN	family with sequence similarity 207, member A	89																	TGCACGGAGCGTCCCTTCCAT	0.612													-|||	2	0.000399361	0.0015	0.0	5008	,	,		18294	0.0		0.0	False		,,,				2504	0.0					ENST00000291634.6																			0											c.(265-267)Gtc>Atc		family with sequence similarity 207, member A		-	ILE/VAL	5,4401	11.4+/-27.6	0,5,2198	80.0	61.0	67.0		265	-0.9	0.0	21	dbSNP_134	67	1,8599	1.2+/-3.3	0,1,4299	yes	missense	FAM207A	NM_058190.2	29	0,6,6497	AA,AG,GG		0.0116,0.1135,0.0461	benign	89/231	46363734	6,13000	2203	4300	6503	SO:0001583	missense	85395							g.chr21:46363734G>A		CCDS13718.1	21q22.3	2011-08-15	2011-08-15	2011-08-15	ENSG00000160256	ENSG00000160256			15811	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 70"""	C21orf70			Standard	NM_058190		Approved	PRED56	uc002zgl.3	Q9NSI2	OTTHUMG00000090293	ENST00000291634.6:c.265G>A	21.37:g.46363734G>A	ENSP00000291634:p.Val89Ile					FAM207A_ENST00000397826.3_Intron	p.V89I	NM_058190.2	NP_478070.1	Q9NSI2	CU070_HUMAN			2	313	+			89						Missense_Mutation	SNP	ENST00000291634.6	37	c.265G>A	CCDS13718.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	g	0.126	-1.119351	0.01785	0.001135	1.16E-4	ENSG00000160256	ENST00000291634	T	0.43688	0.94	0.448	-0.897	0.10553	.	.	.	.	.	T	0.09158	0.0226	N	0.02011	-0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.26467	-1.0102	8	0.11485	T	0.65	.	.	.	.	.	89	Q9NSI2	F207A_HUMAN	I	89	ENSP00000291634:V89I	ENSP00000291634:V89I	V	+	1	0	C21orf70	45188162	0.949000	0.32298	0.008000	0.14137	0.027000	0.11550	0.832000	0.27490	-0.455000	0.07054	0.074000	0.15403	GTC		0.612	FAM207A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206639.1	NM_058190		3	61	0	0	0	1	0	3	61				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		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)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		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)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	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						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		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.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			21	38	0	0	0	1	0	21	38				
ANKLE1	126549	broad.mit.edu	37	19	17396326	17396326	+	Missense_Mutation	SNP	G	G	A			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr19:17396326G>A	ENST00000394458.3	+	7	1739	c.1463G>A	c.(1462-1464)gGc>gAc	p.G488D	ANKLE1_ENST00000594072.1_Missense_Mutation_p.G451D|ANKLE1_ENST00000598347.1_Missense_Mutation_p.G462D|ANKLE1_ENST00000404085.1_Missense_Mutation_p.G484D|ANKLE1_ENST00000433424.2_3'UTR	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	488	GIY-YIG. {ECO:0000255|PROSITE- ProRule:PRU00977}.									large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						TTCTACGTGGGCAAAGGGACG	0.607																																						ENST00000394458.3																			0				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						c.(1462-1464)gGc>gAc		ankyrin repeat and LEM domain containing 1							102.0	111.0	108.0					19																	17396326		2203	4300	6503	SO:0001583	missense	126549					nuclear envelope		g.chr19:17396326G>A	AK096688	CCDS12354.2, CCDS12354.3	19p13.11	2013-01-10	2008-03-25	2008-03-25	ENSG00000160117	ENSG00000160117		"""Ankyrin repeat domain containing"""	26812	protein-coding gene	gene with protein product	"""LEM domain containing 6"""		"""ankyrin repeat domain 41"""	ANKRD41			Standard	NM_152363		Approved	FLJ39369, LEMD6	uc002nga.2	Q8NAG6	OTTHUMG00000150839	ENST00000394458.3:c.1463G>A	19.37:g.17396326G>A	ENSP00000377971:p.Gly488Asp					ANKLE1_ENST00000433424.2_3'UTR|ANKLE1_ENST00000598347.1_Missense_Mutation_p.G462D|ANKLE1_ENST00000594072.1_Missense_Mutation_p.G451D|ANKLE1_ENST00000404085.1_Missense_Mutation_p.G484D	p.G488D	NM_152363.4	NP_689576.4	Q8NAG6	ANKL1_HUMAN			7	1739	+			488					A8VU82|Q8N8J8	Missense_Mutation	SNP	ENST00000394458.3	37	c.1463G>A	CCDS12354.2	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204287	0.79127	.	.	ENSG00000160117	ENST00000404261;ENST00000404085;ENST00000394458;ENST00000438921	D	0.88431	-2.38	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	D	0.95652	0.8586	M	0.93283	3.4	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;0.999	D	0.96651	0.9481	10	0.87932	D	0	-12.0251	14.6247	0.68614	0.0:0.0:1.0:0.0	.	462;448;488;451	E7ETZ9;Q8NAG6-1;Q8NAG6;A0JLW0	.;.;ANKL1_HUMAN;.	D	488;484;451;462	ENSP00000384008:G484D	ENSP00000377971:G451D	G	+	2	0	ANKLE1	17257326	1.000000	0.71417	1.000000	0.80357	0.619000	0.37552	8.502000	0.90505	2.300000	0.77407	0.561000	0.74099	GGC		0.607	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325392.2	NM_152363		4	100	0	0	0	1	0	4	100				
RAB3GAP1	22930	broad.mit.edu	37	2	135911420	135911420	+	Missense_Mutation	SNP	T	T	C			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr2:135911420T>C	ENST00000264158.8	+	19	2306	c.2263T>C	c.(2263-2265)Ttt>Ctt	p.F755L	ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.F755L|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.F711L|RAB3GAP1_ENST00000487003.1_3'UTR	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	755					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		AAGGAGACTCTTTGATGATAC	0.418																																						ENST00000264158.8																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32						c.(2263-2265)Ttt>Ctt		RAB3 GTPase activating protein subunit 1 (catalytic)							99.0	94.0	96.0					2																	135911420		2203	4300	6503	SO:0001583	missense	22930					centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	g.chr2:135911420T>C	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.2263T>C	2.37:g.135911420T>C	ENSP00000264158:p.Phe755Leu					ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.F755L|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.F711L	p.F755L	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	19	2306	+			755					A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	ENST00000264158.8	37	c.2263T>C	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	T	34	5.308875	0.95629	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.68765	-0.34;-0.35;-0.35	5.55	5.55	0.83447	.	0.049558	0.85682	D	0.000000	T	0.81024	0.4737	M	0.73319	2.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.82829	-0.0264	10	0.62326	D	0.03	-17.2825	15.7075	0.77594	0.0:0.0:0.0:1.0	.	755;755	C9J837;Q15042	.;RB3GP_HUMAN	L	755;711;755	ENSP00000264158:F755L;ENSP00000444306:F711L;ENSP00000411418:F755L	ENSP00000264158:F755L	F	+	1	0	RAB3GAP1	135627890	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	7.999000	0.88496	2.117000	0.64856	0.533000	0.62120	TTT		0.418	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233		4	56	0	0	0	1	0	4	56				
SUGP1	57794	broad.mit.edu	37	19	19414811	19414811	+	Intron	SNP	A	A	C			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr19:19414811A>C	ENST00000247001.5	-	5	886				SUGP1_ENST00000585763.1_Intron|SUGP1_ENST00000334782.5_Missense_Mutation_p.W194G	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1						gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						ACAAAACACCATGACGAGGGG	0.587																																						ENST00000334782.5																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						c.(580-582)Tgg>Ggg		SURP and G patch domain containing 1							220.0	209.0	212.0					19																	19414811		876	1991	2867	SO:0001627	intron_variant	57794				nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding	g.chr19:19414811A>C	AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"""G patch domain containing"""	18643	protein-coding gene	gene with protein product		607992	"""splicing factor 4"""	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.539-155T>G	19.37:g.19414811A>C						SUGP1_ENST00000585763.1_Intron|SUGP1_ENST00000247001.5_Intron	p.W194G			Q8IWZ8	SUGP1_HUMAN			5	592	-			0					O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Missense_Mutation	SNP	ENST00000247001.5	37	c.580T>G	CCDS12399.1	.	.	.	.	.	.	.	.	.	.	A	10.70	1.424163	0.25639	.	.	ENSG00000105705	ENST00000334782	.	.	.	4.18	-3.02	0.05446	.	.	.	.	.	T	0.42291	0.1196	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.51787	-0.8661	5	0.87932	D	0	.	10.1395	0.42728	0.7779:0.0:0.2221:0.0	.	.	.	.	G	194	.	ENSP00000334032:W194G	W	-	1	0	SUGP1	19275811	0.002000	0.14202	0.000000	0.03702	0.083000	0.17756	0.485000	0.22324	-0.396000	0.07703	-0.912000	0.02778	TGG		0.587	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460128.4	NM_021164		72	94	0	0	0	1	0	72	94				
ARSJ	79642	broad.mit.edu	37	4	114899934	114899934	+	Silent	SNP	G	G	A			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr4:114899934G>A	ENST00000315366.7	-	1	923	c.57C>T	c.(55-57)gtC>gtT	p.V19V	ARSJ_ENST00000503013.2_5'UTR|ARSJ_ENST00000541197.1_Silent_p.V19V	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	19					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		TTCCAGGACAGACACAGGCCT	0.627																																						ENST00000315366.7																			0				endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21						c.(55-57)gtC>gtT		arylsulfatase family, member J							103.0	113.0	110.0					4																	114899934		1964	4125	6089	SO:0001819	synonymous_variant	79642					extracellular region	arylsulfatase activity|metal ion binding	g.chr4:114899934G>A		CCDS43264.1	4q26	2013-02-14	2006-03-07		ENSG00000180801	ENSG00000180801		"""Arylsulfatase family"""	26286	protein-coding gene	gene with protein product		610010	"""arylsulfatase J"""			12975309, 16174644	Standard	NM_024590		Approved	FLJ23548	uc003ibq.1	Q5FYB0	OTTHUMG00000161067	ENST00000315366.7:c.57C>T	4.37:g.114899934G>A						ARSJ_ENST00000541197.1_Silent_p.V19V|ARSJ_ENST00000503013.2_5'UTR	p.V19V	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00194)	1	923	-		Ovarian(17;0.0035)|Hepatocellular(203;0.217)	19					A2RUG0|B7ZM45|Q1HA39|Q5FWE4|Q6UWT9	Silent	SNP	ENST00000315366.7	37	c.57C>T	CCDS43264.1																																																																																				0.627	ARSJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363650.1	NM_024590		6	152	0	0	0	1	0	6	152				
BCOR	54880	broad.mit.edu	37	X	39911568	39911568	+	Nonsense_Mutation	SNP	C	C	A			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chrX:39911568C>A	ENST00000378444.4	-	15	5290	c.5062G>T	c.(5062-5064)Gaa>Taa	p.E1688*	BCOR_ENST00000397354.3_Nonsense_Mutation_p.E1654*|BCOR_ENST00000378455.4_Nonsense_Mutation_p.E1636*|BCOR_ENST00000342274.4_Nonsense_Mutation_p.E1654*|BCOR_ENST00000378463.1_Nonsense_Mutation_p.E531*	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1688	Necessary and sufficient for interaction with PCGF1.				heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GTGACAATTTCCACGTTTGGA	0.438			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"""F, N, S, T"""	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"""retinoblastoma, AML, APL(translocation)"""		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(4960-4962)Gaa>Taa		BCL6 corepressor							50.0	48.0	48.0					X																	39911568		2202	4300	6502	SO:0001587	stop_gained	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39911568C>A	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.5062G>T	X.37:g.39911568C>A	ENSP00000367705:p.Glu1688*					BCOR_ENST00000397354.3_Nonsense_Mutation_p.E1654*|BCOR_ENST00000378444.4_Nonsense_Mutation_p.E1688*|BCOR_ENST00000378463.1_Nonsense_Mutation_p.E531*|BCOR_ENST00000378455.4_Nonsense_Mutation_p.E1636*	p.E1654*	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			15	5322	-			1688					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Nonsense_Mutation	SNP	ENST00000378444.4	37	c.4960G>T	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	C	46	12.434530	0.99667	.	.	ENSG00000183337	ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-21.5745	18.3947	0.90494	0.0:1.0:0.0:0.0	.	.	.	.	X	558;531;1636;1654;1688;1654	.	ENSP00000345923:E1654X	E	-	1	0	BCOR	39796512	1.000000	0.71417	0.733000	0.30861	0.989000	0.77384	7.336000	0.79245	2.283000	0.76528	0.594000	0.82650	GAA		0.438	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		23	4	1	0	1.1804e-14	1	1.1804e-14	23	4				
APEX1	328	broad.mit.edu	37	14	20925577	20925577	+	Missense_Mutation	SNP	C	C	G	rs565835054		TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr14:20925577C>G	ENST00000216714.3	+	5	1135	c.867C>G	c.(865-867)caC>caG	p.H289Q	OSGEP_ENST00000556252.1_5'Flank|APEX1_ENST00000557054.1_3'UTR|OSGEP_ENST00000206542.4_5'Flank|APEX1_ENST00000398030.4_Missense_Mutation_p.H289Q|APEX1_ENST00000555414.1_Missense_Mutation_p.H289Q	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	289	Mitochondrial targeting sequence (MTS).				aging (GO:0007568)|base-excision repair (GO:0006284)|cell redox homeostasis (GO:0045454)|cellular response to cAMP (GO:0071320)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to peptide hormone stimulus (GO:0071375)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA demethylation (GO:0080111)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|negative regulation of smooth muscle cell migration (GO:0014912)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oxidation-reduction process (GO:0055114)|positive regulation of DNA repair (GO:0045739)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribosome (GO:0005840)|transcription factor complex (GO:0005667)	3'-5' exonuclease activity (GO:0008408)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|phosphodiesterase I activity (GO:0004528)|phosphoric diester hydrolase activity (GO:0008081)|poly(A) RNA binding (GO:0044822)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|uracil DNA N-glycosylase activity (GO:0004844)			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	TGTTGTCCCACTCTCTGTTAC	0.488								Other BER factors																														ENST00000216714.3																			0				breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9						c.(865-867)caC>caG	Other BER factors	APEX nuclease (multifunctional DNA repair enzyme) 1	Lucanthone(DB04967)						229.0	200.0	210.0					14																	20925577		2203	4300	6503	SO:0001583	missense	328				base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome	3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity	g.chr14:20925577C>G	X59764	CCDS9550.1	14q11.2	2008-02-05	2002-09-11	2002-09-13	ENSG00000100823	ENSG00000100823	4.2.99.18		587	protein-coding gene	gene with protein product		107748	"""APEX nuclease (multifunctional DNA repair enzyme)"""	APEX			Standard	NM_001641		Approved	APE, REF1, HAP1, APX, APEN, REF-1, APE-1	uc021rnr.1	P27695	OTTHUMG00000029544	ENST00000216714.3:c.867C>G	14.37:g.20925577C>G	ENSP00000216714:p.His289Gln					APEX1_ENST00000555414.1_Missense_Mutation_p.H289Q|APEX1_ENST00000398030.4_Missense_Mutation_p.H289Q|APEX1_ENST00000557054.1_3'UTR	p.H289Q	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	5	1135	+	all_cancers(95;0.00123)	all_lung(585;0.235)	289			Mitochondrial targeting sequence (MTS).		Q969L5|Q99775	Missense_Mutation	SNP	ENST00000216714.3	37	c.867C>G	CCDS9550.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.256855	0.22965	.	.	ENSG00000100823	ENST00000555414;ENST00000216714;ENST00000398030;ENST00000557054	T;T;T	0.62498	0.02;0.02;0.02	6.06	-3.59	0.04583	Endonuclease/exonuclease/phosphatase (2);	0.751719	0.13631	N	0.373688	T	0.23094	0.0558	N	0.01109	-1.01	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.17745	-1.0359	10	0.30854	T	0.27	.	4.0884	0.09958	0.0962:0.1593:0.4578:0.2866	.	289	P27695	APEX1_HUMAN	Q	289;289;289;20	ENSP00000451979:H289Q;ENSP00000216714:H289Q;ENSP00000381111:H289Q	ENSP00000216714:H289Q	H	+	3	2	APEX1	19995417	0.000000	0.05858	0.888000	0.34837	0.998000	0.95712	-1.348000	0.02629	-0.581000	0.05937	0.655000	0.94253	CAC		0.488	APEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073641.3	NM_001641		58	24	0	0	0	1	0	58	24				
PPRC1	23082	broad.mit.edu	37	10	103900609	103900609	+	Missense_Mutation	SNP	C	C	T			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr10:103900609C>T	ENST00000278070.2	+	5	2383	c.2344C>T	c.(2344-2346)Ctt>Ttt	p.L782F	PPRC1_ENST00000370012.1_5'Flank|PPRC1_ENST00000413464.2_Missense_Mutation_p.L782F	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	782	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GTGGCCTAGCCTTCCAGAGAC	0.582																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(2344-2346)Ctt>Ttt		peroxisome proliferator-activated receptor gamma, coactivator-related 1							88.0	95.0	92.0					10																	103900609		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103900609C>T	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.2344C>T	10.37:g.103900609C>T	ENSP00000278070:p.Leu782Phe					PPRC1_ENST00000413464.2_Missense_Mutation_p.L782F	p.L782F	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	5	2383	+		Colorectal(252;0.122)	782			Pro-rich.		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.2344C>T	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.115120	0.56505	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.35048	1.35;1.33	5.41	4.46	0.54185	.	0.197441	0.34088	N	0.004271	T	0.33265	0.0857	L	0.32530	0.975	0.35040	D	0.759678	D;D;D	0.56521	0.959;0.976;0.959	P;P;P	0.54060	0.556;0.741;0.556	T	0.29822	-0.9999	10	0.25106	T	0.35	.	5.7584	0.18186	0.2279:0.5831:0.1169:0.0722	.	782;662;782	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	F	782	ENSP00000278070:L782F;ENSP00000399743:L782F	ENSP00000278070:L782F	L	+	1	0	PPRC1	103890599	0.119000	0.22226	1.000000	0.80357	0.909000	0.53808	0.927000	0.28818	2.704000	0.92352	0.561000	0.74099	CTT		0.582	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		38	40	0	0	0	1	0	38	40				
FNDC1	84624	broad.mit.edu	37	6	159657261	159657261	+	Missense_Mutation	SNP	C	C	G			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr6:159657261C>G	ENST00000297267.9	+	12	4182	c.3982C>G	c.(3982-3984)Cca>Gca	p.P1328A	FNDC1_ENST00000340366.6_Missense_Mutation_p.P1265A	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1328					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TAATGGCAGACCAAATGTAGA	0.408																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(3982-3984)Cca>Gca		fibronectin type III domain containing 1							77.0	72.0	73.0					6																	159657261		1836	4081	5917	SO:0001583	missense	84624					extracellular region		g.chr6:159657261C>G	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.3982C>G	6.37:g.159657261C>G	ENSP00000297267:p.Pro1328Ala					FNDC1_ENST00000340366.6_Missense_Mutation_p.P1265A	p.P1328A	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	12	4182	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	1328					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.3982C>G	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.31|12.31	1.898346|1.898346	0.33535|0.33535	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.13657|.	2.57;3.4|.	5.09|5.09	4.21|4.21	0.49690|0.49690	.|.	0.061998|.	0.64402|.	N|.	0.000004|.	T|T	0.61961|0.61961	0.2389|0.2389	M|M	0.62723|0.62723	1.935|1.935	0.47441|0.47441	D|D	0.999423|0.999423	D;P|.	0.55605|.	0.972;0.618|.	P;B|.	0.47075|.	0.536;0.142|.	T|T	0.63269|0.63269	-0.6675|-0.6675	10|5	0.51188|.	T|.	0.08|.	-4.9301|-4.9301	16.0773|16.0773	0.80976|0.80976	0.0:0.8659:0.134:0.0|0.0:0.8659:0.134:0.0	.|.	1265;1328|.	Q4ZHG4-2;Q4ZHG4|.	.;FNDC1_HUMAN|.	A|S	1328;1265|1223	ENSP00000297267:P1328A;ENSP00000342460:P1265A|.	ENSP00000297267:P1328A|.	P|T	+|+	1|2	0|0	FNDC1|FNDC1	159577251|159577251	1.000000|1.000000	0.71417|0.71417	0.960000|0.960000	0.40013|0.40013	0.446000|0.446000	0.32137|0.32137	2.142000|2.142000	0.42177|0.42177	1.236000|1.236000	0.43740|0.43740	0.655000|0.655000	0.94253|0.94253	CCA|ACC		0.408	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		14	17	0	0	0	1	0	14	17				
TMPO	7112	broad.mit.edu	37	12	98927458	98927458	+	Intron	SNP	G	G	A			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr12:98927458G>A	ENST00000556029.1	+	3	921				TMPO_ENST00000343315.5_Intron|TMPO_ENST00000266732.4_Missense_Mutation_p.E475K|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000261210.5_Intron	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)	p.E475*(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CTTAGGTCTAGAAGTGGCTAA	0.388																																						ENST00000266732.4																			1	Substitution - Nonsense(1)	p.E475*(1)	large_intestine(1)	breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1423-1425)Gaa>Aaa		thymopoietin							139.0	120.0	126.0					12																	98927458		2203	4300	6503	SO:0001627	intron_variant	7112					integral to membrane|nuclear inner membrane	DNA binding|lamin binding	g.chr12:98927458G>A		CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"""LEM domain containing 4"""	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.565+1842G>A	12.37:g.98927458G>A						TMPO_ENST00000393053.2_Intron|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000556029.1_Intron|TMPO_ENST00000261210.5_Intron	p.E475K	NM_003276.2	NP_003267.1	P42167	LAP2B_HUMAN			4	1661	+			0					A2T926|Q14861	Missense_Mutation	SNP	ENST00000556029.1	37	c.1423G>A	CCDS31879.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.491919	0.26774	.	.	ENSG00000120802	ENST00000266732	T	0.61627	0.09	5.65	5.65	0.86999	.	0.215070	0.39274	N	0.001413	T	0.50582	0.1624	N	0.24115	0.695	0.80722	D	1	B	0.32010	0.351	B	0.38616	0.277	T	0.54323	-0.8311	10	0.72032	D	0.01	-16.9242	15.5961	0.76583	0.0:0.0:1.0:0.0	.	475	P42166	LAP2A_HUMAN	K	475	ENSP00000266732:E475K	ENSP00000266732:E475K	E	+	1	0	TMPO	97451589	1.000000	0.71417	0.979000	0.43373	0.082000	0.17680	4.431000	0.59915	2.827000	0.97445	0.650000	0.86243	GAA		0.388	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276		29	41	0	0	0	1	0	29	41				
CFHR2	3080	broad.mit.edu	37	1	196887466	196887466	+	Intron	SNP	C	C	T	rs576733857		TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr1:196887466C>T	ENST00000367421.3	+	2	135				CFHR4_ENST00000367416.2_Missense_Mutation_p.A555V|CFHR4_ENST00000367418.2_Missense_Mutation_p.A309V|CFHR4_ENST00000251424.4_Missense_Mutation_p.A309V|CFHR4_ENST00000608469.1_Missense_Mutation_p.A179V			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						GGATATAATGCGAATACATCA	0.338													C|||	1	0.000199681	0.0	0.0	5008	,	,		16016	0.0		0.0	False		,,,				2504	0.001					ENST00000367416.2																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						c.(1663-1665)gCg>gTg		complement factor H-related 4							182.0	189.0	186.0					1																	196887466		2202	4300	6502	SO:0001627	intron_variant	10877							g.chr1:196887466C>T	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-31119C>T	1.37:g.196887466C>T						CFHR4_ENST00000367418.1_Missense_Mutation_p.A309V|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Missense_Mutation_p.A309V	p.A555V	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1					10	1801	+								Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367421.3	37	c.1664C>T		.	.	.	.	.	.	.	.	.	.	C	6.489	0.458454	0.12342	.	.	ENSG00000134365	ENST00000367416;ENST00000367418;ENST00000251424;ENST00000538553	D;D;D	0.82619	-1.63;-1.63;-1.63	3.24	-0.726	0.11170	Complement control module (1);	.	.	.	.	T	0.79094	0.4388	L	0.43152	1.355	0.09310	N	1	D;D;P	0.63880	0.972;0.993;0.889	B;P;B	0.53490	0.214;0.727;0.17	T	0.67067	-0.5764	9	0.24483	T	0.36	.	5.054	0.14524	0.4163:0.3789:0.2047:0.0	.	555;556;309	C9J7J7;Q5DVJ7;Q92496	.;.;FHR4_HUMAN	V	555;309;309;309	ENSP00000356386:A555V;ENSP00000356388:A309V;ENSP00000251424:A309V	ENSP00000251424:A309V	A	+	2	0	CFHR4	195154089	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.230000	0.09083	-0.002000	0.14469	0.436000	0.28706	GCG		0.338	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		33	86	0	0	0	1	0	33	86				
TUBB8P7	197331	broad.mit.edu	37	16	90161902	90161902	+	RNA	SNP	A	A	G	rs6500471	byFrequency	TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr16:90161902A>G	ENST00000564451.1	+	0	1255				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.K213R(8)									ATATGTTCCAAGACCCTAAAA	0.537													.|||	3135	0.625998	0.9327	0.5014	5008	,	,		11498	0.7867		0.4702	False		,,,				2504	0.2945					ENST00000567960.1																			8	Substitution - Missense(8)	p.K213R(8)	kidney(4)|prostate(3)|urinary_tract(1)																																																0							g.chr16:90161902A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161902A>G						TUBB8P7_ENST00000564451.1_RNA								0	638	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		3	30	0	0	0	1	0	3	30				
SPRTN	83932	broad.mit.edu	37	1	231488995	231488995	+	Missense_Mutation	SNP	T	T	C			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr1:231488995T>C	ENST00000295050.7	+	5	1694	c.1358T>C	c.(1357-1359)aTg>aCg	p.M453T		NM_001010984.2|NM_032018.5	NP_001010984.1|NP_114407.3	Q9H040	SPRTN_HUMAN	SprT-like N-terminal domain	453					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of protein ubiquitination (GO:0031398)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|ubiquitin binding (GO:0043130)										CAGAGCAAAATGGTTAATTGC	0.398																																						ENST00000295050.7																			0											c.(1357-1359)aTg>aCg		SprT-like N-terminal domain							62.0	58.0	59.0					1																	231488995		2203	4300	6503	SO:0001583	missense	83932							g.chr1:231488995T>C	AL512744	CCDS1594.1, CCDS31054.1, CCDS58066.1	1q42.12-q43	2013-01-30	2012-06-18	2012-06-18	ENSG00000010072	ENSG00000010072			25356	protein-coding gene	gene with protein product	"""SprT-like domain at the N terminus"", ""DNA damage-targeting VCP (p97) adaptor"""		"""chromosome 1 open reading frame 124"""	C1orf124		22681887	Standard	NM_032018		Approved	DKFZP547N043, Spartan, DVC1	uc001hur.4	Q9H040	OTTHUMG00000038022	ENST00000295050.7:c.1358T>C	1.37:g.231488995T>C	ENSP00000295050:p.Met453Thr						p.M453T	NM_001010984.2|NM_032018.5	NP_001010984.1|NP_114407.3					5	1694	+								B1AKT0|B5MEF7|Q5TE78|Q6UWW6|Q96BC5|Q96KA0	Missense_Mutation	SNP	ENST00000295050.7	37	c.1358T>C	CCDS1594.1	.	.	.	.	.	.	.	.	.	.	T	1.675	-0.507931	0.04231	.	.	ENSG00000010072	ENST00000295050	T	0.38887	1.11	5.41	-4.43	0.03568	Zinc finger, Rad18-type putative (1);	1.524200	0.03360	N	0.197516	T	0.14700	0.0355	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10268	-1.0637	10	0.18276	T	0.48	0.0375	2.7087	0.05168	0.169:0.3088:0.356:0.1662	.	453	Q9H040	CA124_HUMAN	T	453	ENSP00000295050:M453T	ENSP00000295050:M453T	M	+	2	0	C1orf124	229555618	0.000000	0.05858	0.001000	0.08648	0.146000	0.21551	-1.272000	0.02826	-0.345000	0.08325	-0.307000	0.09154	ATG		0.398	SPRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092858.1	NM_032018		25	45	0	0	0	1	0	25	45				
ERICH6	131831	broad.mit.edu	37	3	150396333	150396333	+	Missense_Mutation	SNP	G	G	A	rs578028416		TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr3:150396333G>A	ENST00000295910.6	-	10	1172	c.1120C>T	c.(1120-1122)Cgc>Tgc	p.R374C	FAM194A_ENST00000491361.1_Missense_Mutation_p.R228C	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GTTTTTAAGCGCTTTGAATCT	0.269													G|||	1	0.000199681	0.0	0.0	5008	,	,		14614	0.001		0.0	False		,,,				2504	0.0					ENST00000295910.6																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1120-1122)Cgc>Tgc		family with sequence similarity 194, member A							52.0	51.0	51.0					3																	150396333		2200	4292	6492	SO:0001583	missense	131831							g.chr3:150396333G>A																												ENST00000295910.6:c.1120C>T	3.37:g.150396333G>A	ENSP00000295910:p.Arg374Cys					FAM194A_ENST00000491361.1_Missense_Mutation_p.R228C	p.R374C	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN			10	1172	-			374						Missense_Mutation	SNP	ENST00000295910.6	37	c.1120C>T	CCDS3151.2	.	.	.	.	.	.	.	.	.	.	G	14.53	2.563942	0.45694	.	.	ENSG00000163645	ENST00000295910;ENST00000491361;ENST00000313811	T;T	0.14640	2.7;2.49	3.85	2.94	0.34122	.	0.774358	0.11167	N	0.592406	T	0.12347	0.0300	N	0.22421	0.69	0.80722	D	1	D	0.56521	0.976	P	0.44696	0.458	T	0.11324	-1.0592	10	0.66056	D	0.02	-2.5408	11.6362	0.51204	0.0:0.0:0.8202:0.1798	.	374	Q7L0X2	F194A_HUMAN	C	374;228;332	ENSP00000295910:R374C;ENSP00000419366:R228C	ENSP00000295910:R374C	R	-	1	0	FAM194A	151879023	0.006000	0.16342	0.004000	0.12327	0.330000	0.28571	1.480000	0.35464	0.901000	0.36495	0.557000	0.71058	CGC		0.269	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			18	45	0	0	0	1	0	18	45				
NCOA3	8202	broad.mit.edu	37	20	46279833	46279833	+	Silent	SNP	G	G	A			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr20:46279833G>A	ENST00000371998.3	+	20	3950	c.3759G>A	c.(3757-3759)caG>caA	p.Q1253Q	NCOA3_ENST00000372004.3_Silent_p.Q1249Q|NCOA3_ENST00000371997.3_Silent_p.Q1244Q|NCOA3_ENST00000341724.6_Silent_p.Q1179Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagc	0.547																																						ENST00000372004.3																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3745-3747)caG>caA		nuclear receptor coactivator 3							46.0	53.0	50.0					20																	46279833		2202	4300	6502	SO:0001819	synonymous_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279833G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3759G>A	20.37:g.46279833G>A						NCOA3_ENST00000371997.3_Silent_p.Q1244Q|NCOA3_ENST00000371998.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1179Q	p.Q1249Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			20	3963	+			1253		Missing.	Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.3747G>A	CCDS13407.1																																																																																				0.547	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		3	41	0	0	0	1	0	3	41				
ANKS4B	257629	broad.mit.edu	37	16	21245084	21245084	+	Missense_Mutation	SNP	C	C	T			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr16:21245084C>T	ENST00000311620.5	+	1	99	c.26C>T	c.(25-27)gCt>gTt	p.A9V		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	9					response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		CACCAAGCTGCTAGTGATAGT	0.488																																						ENST00000311620.5																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20						c.(25-27)gCt>gTt		ankyrin repeat and sterile alpha motif domain containing 4B							208.0	199.0	202.0					16																	21245084		1960	4149	6109	SO:0001583	missense	257629							g.chr16:21245084C>T	AK096138	CCDS42130.1	16p12.2	2013-01-10				ENSG00000175311		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26795	protein-coding gene	gene with protein product		609901					Standard	NM_145865		Approved	FLJ38819, HARP	uc010bwp.1	Q8N8V4		ENST00000311620.5:c.26C>T	16.37:g.21245084C>T	ENSP00000308772:p.Ala9Val						p.A9V	NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN		GBM - Glioblastoma multiforme(48;0.0565)	1	99	+			9						Missense_Mutation	SNP	ENST00000311620.5	37	c.26C>T	CCDS42130.1	.	.	.	.	.	.	.	.	.	.	C	35	5.413671	0.96072	.	.	ENSG00000175311	ENST00000311620	T	0.72167	-0.63	5.22	5.22	0.72569	Ankyrin repeat-containing domain (1);	0.058505	0.64402	D	0.000003	T	0.81178	0.4768	M	0.67700	2.07	0.80722	D	1	D	0.71674	0.998	P	0.60236	0.871	T	0.82655	-0.0350	10	0.56958	D	0.05	-13.1952	17.7317	0.88379	0.0:1.0:0.0:0.0	.	9	Q8N8V4	ANS4B_HUMAN	V	9	ENSP00000308772:A9V	ENSP00000308772:A9V	A	+	2	0	ANKS4B	21152585	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.574000	0.82434	2.414000	0.81942	0.591000	0.81541	GCT		0.488	ANKS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436535.1	NM_145865		49	81	0	0	0	1	0	49	81				
RTP1	132112	broad.mit.edu	37	3	186917640	186917640	+	Missense_Mutation	SNP	G	G	A			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr3:186917640G>A	ENST00000312295.4	+	2	604	c.574G>A	c.(574-576)Gag>Aag	p.E192K	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	192					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		AGAGTTCTGCGAGGCCTGCCA	0.701																																						ENST00000312295.4																			0				breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22						c.(574-576)Gag>Aag		receptor (chemosensory) transporter protein 1							35.0	35.0	35.0					3																	186917640		2203	4300	6503	SO:0001583	missense	132112				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:186917640G>A	BC034744	CCDS3287.2	3q27.3	2014-02-20	2006-11-21		ENSG00000175077	ENSG00000175077		"""Receptor transporter proteins"""	28580	protein-coding gene	gene with protein product	"""receptor transporting protein 1"", ""zinc finger, 3CxxC-type 1"""	609137	"""receptor transporter protein 1"""			16271481, 15550249, 16720576	Standard	NM_153708		Approved	MGC35450, Z3CXXC1	uc003frg.3	P59025	OTTHUMG00000149886	ENST00000312295.4:c.574G>A	3.37:g.186917640G>A	ENSP00000311712:p.Glu192Lys					RP11-208N14.4_ENST00000356133.3_RNA	p.E192K	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	2	604	+	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		192						Missense_Mutation	SNP	ENST00000312295.4	37	c.574G>A	CCDS3287.2	.	.	.	.	.	.	.	.	.	.	G	29.0	4.972894	0.92919	.	.	ENSG00000175077	ENST00000312295	T	0.26957	1.7	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.51618	0.1685	M	0.81682	2.555	0.31330	N	0.684998	D	0.76494	0.999	D	0.63703	0.917	T	0.61778	-0.6993	10	0.87932	D	0	.	15.3379	0.74273	0.0:0.0:1.0:0.0	.	192	P59025	RTP1_HUMAN	K	192	ENSP00000311712:E192K	ENSP00000311712:E192K	E	+	1	0	RTP1	188400334	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.691000	0.68249	2.711000	0.92665	0.561000	0.74099	GAG		0.701	RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313731.2	NM_153708		27	16	0	0	0	1	0	27	16				
ANKLE1	126549	broad.mit.edu	37	19	17397249	17397249	+	Missense_Mutation	SNP	C	C	T			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr19:17397249C>T	ENST00000394458.3	+	9	2012	c.1736C>T	c.(1735-1737)cCa>cTa	p.P579L	ANKLE1_ENST00000594072.1_Missense_Mutation_p.P542L|ANKLE1_ENST00000598347.1_Missense_Mutation_p.H507Y|ANKLE1_ENST00000404085.1_Missense_Mutation_p.P575L|ANKLE1_ENST00000433424.2_3'UTR	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	579										large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						GCAGGCTGGCCACCTGCTCGT	0.637																																						ENST00000394458.3																			0				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						c.(1735-1737)cCa>cTa		ankyrin repeat and LEM domain containing 1							36.0	33.0	34.0					19																	17397249		2202	4298	6500	SO:0001583	missense	126549					nuclear envelope		g.chr19:17397249C>T	AK096688	CCDS12354.2, CCDS12354.3	19p13.11	2013-01-10	2008-03-25	2008-03-25	ENSG00000160117	ENSG00000160117		"""Ankyrin repeat domain containing"""	26812	protein-coding gene	gene with protein product	"""LEM domain containing 6"""		"""ankyrin repeat domain 41"""	ANKRD41			Standard	NM_152363		Approved	FLJ39369, LEMD6	uc002nga.2	Q8NAG6	OTTHUMG00000150839	ENST00000394458.3:c.1736C>T	19.37:g.17397249C>T	ENSP00000377971:p.Pro579Leu					ANKLE1_ENST00000433424.2_3'UTR|ANKLE1_ENST00000598347.1_Missense_Mutation_p.H507Y|ANKLE1_ENST00000594072.1_Missense_Mutation_p.P542L|ANKLE1_ENST00000404085.1_Missense_Mutation_p.P575L	p.P579L	NM_152363.4	NP_689576.4	Q8NAG6	ANKL1_HUMAN			9	2012	+			579					A8VU82|Q8N8J8	Missense_Mutation	SNP	ENST00000394458.3	37	c.1736C>T	CCDS12354.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.89|16.89	3.247692|3.247692	0.59103|0.59103	.|.	.|.	ENSG00000160117|ENSG00000160117	ENST00000438921|ENST00000404261;ENST00000404085;ENST00000394458	.|T	.|0.72051	.|-0.62	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	.|0.313257	.|0.31051	.|N	.|0.008347	T|T	0.63931|0.63931	0.2553|0.2553	L|L	0.46741|0.46741	1.465|1.465	0.80722|0.80722	D|D	1|1	P|B;P;P	0.50528|0.37441	0.936|0.447;0.595;0.595	B|B;B;B	0.38156|0.36030	0.266|0.216;0.123;0.123	T|T	0.67401|0.67401	-0.5680|-0.5680	8|10	0.72032|0.56958	D|D	0.01|0.05	.|.	12.4238|12.4238	0.55534|0.55534	0.0:0.8306:0.1694:0.0|0.0:0.8306:0.1694:0.0	.|.	507|539;579;542	E7ETZ9|Q8NAG6-1;Q8NAG6;A0JLW0	.|.;ANKL1_HUMAN;.	Y|L	507|579;575;542	.|ENSP00000384008:P575L	ENSP00000415429:H507Y|ENSP00000377971:P542L	H|P	+|+	1|2	0|0	ANKLE1|ANKLE1	17258249|17258249	0.915000|0.915000	0.31059|0.31059	0.921000|0.921000	0.36526|0.36526	0.970000|0.970000	0.65996|0.65996	3.298000|3.298000	0.51818|0.51818	2.540000|2.540000	0.85666|0.85666	0.491000|0.491000	0.48974|0.48974	CAC|CCA		0.637	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325392.2	NM_152363		16	21	0	0	0	1	0	16	21				
ESR1	2099	broad.mit.edu	37	6	152419955	152419955	+	Missense_Mutation	SNP	C	C	T	rs182943916		TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr6:152419955C>T	ENST00000206249.3	+	8	2004	c.1642C>T	c.(1642-1644)Cgc>Tgc	p.R548C	ESR1_ENST00000456483.2_Missense_Mutation_p.R436C|ESR1_ENST00000427531.2_Intron|ESR1_ENST00000338799.5_Missense_Mutation_p.R548C|ESR1_ENST00000406599.1_Missense_Mutation_p.R287C|ESR1_ENST00000443427.1_Missense_Mutation_p.R548C|ESR1_ENST00000440973.1_Missense_Mutation_p.R548C	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	548	Interaction with AKAP13.|Self-association.|Steroid-binding.|Transactivation AF-2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	GGACGCCCACCGCCTACATGC	0.577													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18085	0.0		0.0	False		,,,				2504	0.0					ENST00000440973.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49	GRCh37	CM057965	ESR1	M	rs182943916	c.(1642-1644)Cgc>Tgc		estrogen receptor 1	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)						84.0	74.0	78.0					6																	152419955		2203	4300	6503	SO:0001583	missense	2099				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr6:152419955C>T	X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.1642C>T	6.37:g.152419955C>T	ENSP00000206249:p.Arg548Cys					ESR1_ENST00000443427.1_Missense_Mutation_p.R548C|ESR1_ENST00000206249.3_Missense_Mutation_p.R548C|ESR1_ENST00000338799.5_Missense_Mutation_p.R548C|ESR1_ENST00000406599.1_Missense_Mutation_p.R287C|ESR1_ENST00000544394.1_Intron|ESR1_ENST00000456483.2_Missense_Mutation_p.R436C	p.R548C	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	10	2012	+		Ovarian(120;0.0448)	548			Interaction with AKAP13.|Steroid-binding.		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Missense_Mutation	SNP	ENST00000206249.3	37	c.1642C>T	CCDS5234.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	24.1	4.491337	0.84962	.	.	ENSG00000091831	ENST00000440973;ENST00000338799;ENST00000456483;ENST00000431219;ENST00000443427;ENST00000206249;ENST00000406599;ENST00000347491;ENST00000431590	D;D;D;D;D;T	0.93076	-3.16;-3.16;-2.62;-3.16;-3.16;-0.53	5.46	5.46	0.80206	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	D	0.96793	0.8953	M	0.82823	2.61	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.997;0.999;0.999	D;D;D;D;P;P;P	0.87578	0.998;0.912;0.917;0.963;0.653;0.812;0.653	D	0.96862	0.9633	10	0.66056	D	0.02	.	19.3216	0.94243	0.0:1.0:0.0:0.0	.	223;113;287;475;547;548;548	E7EVR3;B5LY05;Q9H2M1;B4E3R5;A8KAF4;G4XH65;P03372	.;.;.;.;.;.;ESR1_HUMAN	C	548;548;436;223;548;548;287;135;476	ENSP00000405330:R548C;ENSP00000342630:R548C;ENSP00000415934:R436C;ENSP00000387500:R548C;ENSP00000206249:R548C;ENSP00000384064:R287C	ENSP00000206249:R548C	R	+	1	0	ESR1	152461648	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.854000	0.55949	2.573000	0.86826	0.655000	0.94253	CGC		0.577	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1			12	17	0	0	0	1	0	12	17				
KRTAP10-9	386676	broad.mit.edu	37	21	46047639	46047639	+	Missense_Mutation	SNP	T	T	C			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr21:46047639T>C	ENST00000397911.3	+	1	600	c.551T>C	c.(550-552)gTg>gCg	p.V184A	TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	184	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						TCCTACTGTGTGCCTGTCTGC	0.597																																						ENST00000397911.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						c.(550-552)gTg>gCg		keratin associated protein 10-9							258.0	274.0	269.0					21																	46047639		2203	4300	6503	SO:0001583	missense	386676					keratin filament		g.chr21:46047639T>C	AJ566386	CCDS42961.1	21q22.3	2007-10-05			ENSG00000221837	ENSG00000221837		"""Keratin associated proteins"""	22971	protein-coding gene	gene with protein product				KRTAP18-9			Standard	NM_198690		Approved	KAP10.9, KAP18.9	uc002zfp.4	P60411	OTTHUMG00000057637	ENST00000397911.3:c.551T>C	21.37:g.46047639T>C	ENSP00000381009:p.Val184Ala					KRTAP10-9_ENST00000484861.1_Intron|TSPEAR_ENST00000323084.4_Intron	p.V184A	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN			1	600	+			184			25 X 5 AA repeats of C-C-X(3).		A2RRG1|A6NIR9|Q70LJ1	Missense_Mutation	SNP	ENST00000397911.3	37	c.551T>C	CCDS42961.1	.	.	.	.	.	.	.	.	.	.	t	0.014	-1.599901	0.00849	.	.	ENSG00000221837	ENST00000397911	T	0.01369	4.97	3.45	0.958	0.19619	.	.	.	.	.	T	0.04679	0.0127	H	0.96269	3.795	0.09310	N	1	B	0.22604	0.072	B	0.23018	0.043	T	0.14868	-1.0457	8	.	.	.	.	6.674	0.23083	0.0:0.2413:0.0:0.7587	.	184	P60411	KR109_HUMAN	A	184	ENSP00000381009:V184A	.	V	+	2	0	KRTAP10-9	44872067	0.000000	0.05858	0.003000	0.11579	0.006000	0.05464	-0.478000	0.06575	0.341000	0.23771	0.491000	0.48974	GTG		0.597	KRTAP10-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128040.1			143	215	0	0	0	1	0	143	215				
APOA4	337	broad.mit.edu	37	11	116692097	116692097	+	Missense_Mutation	SNP	T	T	C			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr11:116692097T>C	ENST00000357780.3	-	3	791	c.677A>G	c.(676-678)tAt>tGt	p.Y226C		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	226	13 X 22 AA approximate tandem repeats.				cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron assembly (GO:0034378)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle remodeling (GO:0034375)|hydrogen peroxide catabolic process (GO:0042744)|innate immune response in mucosa (GO:0002227)|leukocyte cell-cell adhesion (GO:0007159)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|multicellular organismal lipid catabolic process (GO:0044240)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|phosphatidylcholine metabolic process (GO:0046470)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|protein-lipid complex assembly (GO:0065005)|regulation of cholesterol transport (GO:0032374)|regulation of intestinal cholesterol absorption (GO:0030300)|removal of superoxide radicals (GO:0019430)|response to lipid hydroperoxide (GO:0006982)|response to stilbenoid (GO:0035634)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|cholesterol transporter activity (GO:0017127)|copper ion binding (GO:0005507)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GTCCTGAGCATAGGGAGCCAG	0.592																																						ENST00000357780.3																			0				cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(676-678)tAt>tGt		apolipoprotein A-IV							135.0	136.0	136.0					11																	116692097		2201	4292	6493	SO:0001583	missense	337							g.chr11:116692097T>C		CCDS31681.1	11q23.3	2013-01-24			ENSG00000110244	ENSG00000110244		"""Apolipoproteins"""	602	protein-coding gene	gene with protein product		107690					Standard	NM_000482		Approved		uc001pps.1	P06727	OTTHUMG00000046110	ENST00000357780.3:c.677A>G	11.37:g.116692097T>C	ENSP00000350425:p.Tyr226Cys						p.Y226C	NM_000482.3	NP_000473.2				BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)	3	791	-	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)						A8MSL6|Q14CW8|Q6Q787	Missense_Mutation	SNP	ENST00000357780.3	37	c.677A>G	CCDS31681.1	.	.	.	.	.	.	.	.	.	.	T	15.24	2.774021	0.49786	.	.	ENSG00000110244	ENST00000357780	T	0.77489	-1.1	4.96	-2.84	0.05751	Apolipoprotein/apolipophorin (1);	0.707352	0.12990	N	0.422589	D	0.86948	0.6056	M	0.86740	2.835	0.09310	N	1	D	0.89917	1.0	D	0.74348	0.983	T	0.80101	-0.1523	10	0.56958	D	0.05	-3.6747	12.5976	0.56478	0.6:0.0:0.0:0.4	.	226	P06727	APOA4_HUMAN	C	226	ENSP00000350425:Y226C	ENSP00000350425:Y226C	Y	-	2	0	APOA4	116197307	0.000000	0.05858	0.000000	0.03702	0.917000	0.54804	0.365000	0.20348	-0.214000	0.10078	0.460000	0.39030	TAT		0.592	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106279.2	NM_000482		7	164	0	0	0	1	0	7	164				
MRPL45	84311	broad.mit.edu	37	17	36453192	36453192	+	Missense_Mutation	SNP	T	T	G	rs139299251		TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr17:36453192T>G	ENST00000312513.5	+	1	204	c.43T>G	c.(43-45)Ttt>Gtt	p.F15V		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	15						mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTTATCGAGGTTTTTGGGCTG	0.582																																						ENST00000312513.5																			0				breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13						c.(43-45)Ttt>Gtt		mitochondrial ribosomal protein L45							75.0	94.0	88.0					17																	36453192		692	1591	2283	SO:0001583	missense	84311				intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome	g.chr17:36453192T>G	BC006235	CCDS11326.1, CCDS74047.1	17q21.2	2014-05-06			ENSG00000174100	ENSG00000278845		"""Mitochondrial ribosomal proteins / large subunits"""	16651	protein-coding gene	gene with protein product		611850				11551941, 12706105	Standard	XM_006725366		Approved	MGC11321	uc002hpy.3	Q9BRJ2	OTTHUMG00000188489	ENST00000312513.5:c.43T>G	17.37:g.36453192T>G	ENSP00000308901:p.Phe15Val						p.F15V	NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN			1	204	+	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	15					A1L436|Q6ZMJ5	Missense_Mutation	SNP	ENST00000312513.5	37	c.43T>G	CCDS11326.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.932710	0.00488	.	.	ENSG00000174100	ENST00000312513	T	0.27256	1.68	4.28	2.13	0.27403	.	.	.	.	.	T	0.06690	0.0171	N	0.00707	-1.245	0.09310	N	0.999992	B	0.02656	0.0	B	0.01281	0.0	T	0.32693	-0.9897	9	0.31617	T	0.26	.	3.1875	0.06606	0.249:0.0:0.5488:0.2022	.	15	Q9BRJ2	RM45_HUMAN	V	15	ENSP00000308901:F15V	ENSP00000308901:F15V	F	+	1	0	MRPL45	.	0.230000	0.23740	0.745000	0.31077	0.088000	0.18126	0.728000	0.26013	0.123000	0.18342	-1.308000	0.01314	TTT		0.582	MRPL45-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256792.3	NM_032351		3	50	0	0	0	1	0	3	50				
TAS2R7	50837	broad.mit.edu	37	12	10954500	10954500	+	Missense_Mutation	SNP	C	C	T			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr12:10954500C>T	ENST00000240687.2	-	1	726	c.670G>A	c.(670-672)Gac>Aac	p.D224N		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	224					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						GTGCTGGGGTCTCTGCACCCT	0.517																																						ENST00000240687.2																			0				kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						c.(670-672)Gac>Aac		taste receptor, type 2, member 7							85.0	88.0	87.0					12																	10954500		2203	4300	6503	SO:0001583	missense	50837				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10954500C>T	AF227133	CCDS8631.1	12p13	2012-08-22			ENSG00000121377	ENSG00000121377		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14913	protein-coding gene	gene with protein product		604793				10761934, 10766242	Standard	NM_023919		Approved	T2R7, TRB4	uc001qyv.3	Q9NYW3	OTTHUMG00000168505	ENST00000240687.2:c.670G>A	12.37:g.10954500C>T	ENSP00000240687:p.Asp224Asn						p.D224N	NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN			1	726	-			224					Q645Y1	Missense_Mutation	SNP	ENST00000240687.2	37	c.670G>A	CCDS8631.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.205664	0.58234	.	.	ENSG00000121377	ENST00000240687	T	0.36699	1.24	5.37	5.37	0.77165	GPCR, rhodopsin-like superfamily (1);	0.459060	0.20274	N	0.095616	T	0.58779	0.2146	M	0.78801	2.425	0.30985	N	0.722089	D	0.89917	1.0	D	0.91635	0.999	T	0.64385	-0.6420	10	0.87932	D	0	.	9.9291	0.41512	0.0:0.9099:0.0:0.0901	.	224	Q9NYW3	TA2R7_HUMAN	N	224	ENSP00000240687:D224N	ENSP00000240687:D224N	D	-	1	0	TAS2R7	10845767	0.006000	0.16342	0.694000	0.30210	0.322000	0.28314	0.453000	0.21811	2.793000	0.96121	0.650000	0.86243	GAC		0.517	TAS2R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399931.1			23	22	0	0	0	1	0	23	22				
COLGALT1	79709	broad.mit.edu	37	19	17688023	17688023	+	Silent	SNP	G	G	A			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr19:17688023G>A	ENST00000252599.4	+	7	1089	c.969G>A	c.(967-969)gaG>gaA	p.E323E		NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	323					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)										CGCCCGCAGAGCCCTCCCGCT	0.667																																						ENST00000252599.4																			0											c.(967-969)gaG>gaA		collagen beta(1-O)galactosyltransferase 1							41.0	41.0	41.0					19																	17688023		2203	4300	6503	SO:0001819	synonymous_variant	79709							g.chr19:17688023G>A	AK075541	CCDS12363.1	19p13.11	2013-02-27	2013-02-27	2013-02-27	ENSG00000130309	ENSG00000130309			26182	protein-coding gene	gene with protein product			"""glycosyltransferase 25 domain containing 1"""	GLT25D1		19075007	Standard	NM_024656		Approved	FLJ22329	uc002nhc.1	Q8NBJ5		ENST00000252599.4:c.969G>A	19.37:g.17688023G>A							p.E323E	NM_024656.2	NP_078932.2					7	1089	+								Q8NC64	Silent	SNP	ENST00000252599.4	37	c.969G>A	CCDS12363.1																																																																																				0.667	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464216.1	NM_024656		7	18	0	0	0	1	0	7	18				
RAD51AP2	729475	broad.mit.edu	37	2	17698690	17698690	+	Silent	SNP	G	G	A			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr2:17698690G>A	ENST00000399080.2	-	1	1016	c.993C>T	c.(991-993)taC>taT	p.Y331Y		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	331										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGAGTGATGGGTAGTCATTTT	0.343																																						ENST00000399080.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(991-993)taC>taT		RAD51 associated protein 2							84.0	76.0	78.0					2																	17698690		1806	4075	5881	SO:0001819	synonymous_variant	729475							g.chr2:17698690G>A	AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.993C>T	2.37:g.17698690G>A							p.Y331Y	NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN			1	1016	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		331						Silent	SNP	ENST00000399080.2	37	c.993C>T	CCDS42656.1																																																																																				0.343	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		6	81	0	0	0	1	0	6	81				
SNX27	81609	broad.mit.edu	37	1	151640951	151640951	+	Missense_Mutation	SNP	G	G	A			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr1:151640951G>A	ENST00000458013.2	+	7	1109	c.989G>A	c.(988-990)cGt>cAt	p.R330H	SNX27_ENST00000368843.3_Missense_Mutation_p.R330H|SNX27_ENST00000482791.1_3'UTR|SNX27_ENST00000368838.1_Missense_Mutation_p.R237H			Q96L92	SNX27_HUMAN	sorting nexin family member 27	330	FERM-like region F1.|Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCTTTAGTACGTAAATTGGCA	0.378																																					Colon(46;291 966 40145 41237 41888)	ENST00000368843.3																			0				central_nervous_system(1)|large_intestine(2)|ovary(2)	5						c.(988-990)cGt>cAt		sorting nexin family member 27							113.0	113.0	113.0					1																	151640951		2203	4300	6503	SO:0001583	missense	81609				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding	g.chr1:151640951G>A	AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"""Sorting nexins"""	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.989G>A	1.37:g.151640951G>A	ENSP00000400333:p.Arg330His					SNX27_ENST00000368838.1_Missense_Mutation_p.R237H|SNX27_ENST00000458013.2_Missense_Mutation_p.R330H|SNX27_ENST00000482791.1_3'UTR	p.R330H	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		7	1109	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		330			Ras-associating.		Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Missense_Mutation	SNP	ENST00000458013.2	37	c.989G>A		.	.	.	.	.	.	.	.	.	.	G	19.75	3.884903	0.72410	.	.	ENSG00000143376	ENST00000458013;ENST00000368843;ENST00000368838	D;D;D	0.82081	-1.57;-1.57;-1.57	5.1	5.1	0.69264	Ras-association (2);	0.000000	0.85682	D	0.000000	D	0.90714	0.7086	M	0.82193	2.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	D	0.91640	0.5326	10	0.87932	D	0	.	17.2485	0.87035	0.0:0.0:1.0:0.0	.	330;330	Q96L92;Q96L92-3	SNX27_HUMAN;.	H	330;330;237	ENSP00000400333:R330H;ENSP00000357836:R330H;ENSP00000357831:R237H	ENSP00000357831:R237H	R	+	2	0	SNX27	149907575	1.000000	0.71417	1.000000	0.80357	0.271000	0.26615	8.907000	0.92634	2.656000	0.90262	0.305000	0.20034	CGT		0.378	SNX27-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000036624.3	NM_030918		41	66	0	0	0	1	0	41	66				
AC073321.4	0	broad.mit.edu	37	2	217475010	217475010	+	lincRNA	DEL	G	G	-	rs370329361		TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr2:217475010delG	ENST00000441803.1	+	0	195																											ttttttttttGAAAGAAAGGC	0.393																																						ENST00000441803.1																			0																																																			0							g.chr2:217475010delG																													2.37:g.217475010delG														0	195	+									RNA	DEL	ENST00000441803.1	37																																																																																						0.393	AC073321.4-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000339548.2			2	4						2	4	---	---	---	---
DST	667	broad.mit.edu	37	6	56484991	56484994	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr6:56484991_56484994delTCTT	ENST00000370765.6	-	23	3945_3948	c.3838_3841delAAGA	c.(3838-3843)aagagafs	p.KR1280fs	DST_ENST00000370769.4_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	737					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCATTGTCTCTCTTTCTTCTTAAT	0.338																																						ENST00000370765.6																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(3838-3843)gafs		dystonin																																				SO:0001589	frameshift_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56484991_56484994delTCTT	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.3838_3841delAAGA	6.37:g.56484995_56484998delTCTT	ENSP00000359801:p.Lys1280fs					DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron	p.KR1280fs	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		23	3945_3948	-	Lung NSC(77;0.103)		4932					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Frame_Shift_Del	DEL	ENST00000370765.6	37	c.3838_3841delAAGA	CCDS4959.1																																																																																				0.338	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		32	49						32	49	---	---	---	---
ZNF733P	643955	broad.mit.edu	37	7	62752768	62752768	+	RNA	DEL	T	T	-			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr7:62752768delT	ENST00000331425.6	-	0	667					NR_003952.1				zinc finger protein 733, pseudogene																		GTATGAATTATTTTATGTGTA	0.383																																						ENST00000331425.6																			0																																																			0							g.chr7:62752768delT			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752768delT								NR_003952.1						0	667	-									RNA	DEL	ENST00000331425.6	37																																																																																						0.383	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			9	20						9	20	---	---	---	---
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs56831387|rs112413030|rs76614416	byFrequency	TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101									T cell receptor beta variable 29-1																		GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457														1983	0.395966	0.3812	0.5187	5008	,	,		21381	0.2222		0.5974	False		,,,				2504	0.3006					ENST00000422143.2																			0																	1374,2160		346,682,739						1.6	0.0		dbSNP_129	48	4141,3571		1278,1585,993	no	intergenic				1624,2267,1732	A1A1,A1R,RR		46.3045,38.8795,49.0397				5515,5731						0							g.chr7:142448200_142448207delGGTGGAAA	L36092		7q34	2012-02-07			ENSG00000232869	ENSG00000232869		"""T cell receptors / TRB locus"""	12210	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV291, TCRBV29S1, TCRBV4S1A1T			OTTHUMG00000158898		7.37:g.142448208_142448215delGGTGGAAA														0	101	+									RNA	DEL	ENST00000422143.2	37																																																																																						0.457	TRBV29-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352510.1	NG_001333		5	9						5	9	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139407856	139407856	+	Frame_Shift_Del	DEL	C	C	-			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr9:139407856delC	ENST00000277541.6	-	14	2416	c.2341delG	c.(2341-2343)gagfs	p.E781fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	781	EGF-like 20. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTGAAGCCCTCCCGGCAGGTG	0.607			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(2341-2343)agfs		notch 1							69.0	81.0	77.0					9																	139407856		2189	4279	6468	SO:0001589	frameshift_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139407856delC	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.2341delG	9.37:g.139407856delC	ENSP00000277541:p.Glu781fs	HNSCC(8;0.001)					p.E781fs	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	14	2416	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	781			EGF-like 20.		Q59ED8|Q5SXM3	Frame_Shift_Del	DEL	ENST00000277541.6	37	c.2341delG	CCDS43905.1																																																																																				0.607	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		10	18						10	18	---	---	---	---
IL9RP3	729486	broad.mit.edu	37	16	84036	84053	+	RNA	DEL	GGGAGCCTGGAAGCACAC	GGGAGCCTGGAAGCACAC	-	rs367849850|rs117781963|rs3743872	byFrequency	TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr16:84036_84053delGGGAGCCTGGAAGCACAC	ENST00000568710.1	-	0	349																											CTTGTCTCTGGGGAGCCTGGAAGCACACGGGCTGGCTA	0.633														75	0.014976	0.0015	0.0303	5008	,	,		24910	0.0		0.0467	False		,,,				2504	0.0051					ENST00000568710.1																			0																																																			0							g.chr16:84036_84053delGGGAGCCTGGAAGCACAC																													16.37:g.84036_84053delGGGAGCCTGGAAGCACAC														0	349	-									RNA	DEL	ENST00000568710.1	37																																																																																						0.633	Z84812.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000420570.1			6	13						6	13	---	---	---	---
STK11	6794	broad.mit.edu	37	19	1219351	1219351	+	Frame_Shift_Del	DEL	G	G	-	rs137853081		TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr19:1219351delG	ENST00000326873.7	+	3	1576	c.403delG	c.(403-405)ggcfs	p.G135fs	STK11_ENST00000585748.1_3'UTR	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	135	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		G -> R (in melanoma; sporadic malignant; somatic mutation). {ECO:0000269|PubMed:10201537}.		activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.?(2)|p.G135R(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCGTGTGTGGCATGCAGGA	0.682		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																												ENST00000326873.7		14	yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	"""D, Mis, N, F, S"""	serine/threonine kinase 11 gene (LKB1)			"""E, M, O"""		"""jejunal harmartoma, ovarian, testicular, pancreatic"""	"""NSCLC, pancreatic"""		23	Whole gene deletion(20)|Unknown(2)|Substitution - Missense(1)	p.0?(20)|p.?(2)|p.G135R(1)	cervix(15)|lung(3)|skin(1)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)	biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328						c.(403-405)gcfs		serine/threonine kinase 11							47.0	50.0	49.0					19																	1219351		2187	4289	6476	SO:0001589	frameshift_variant	6794	Peutz-Jeghers syndrome	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:1219351delG	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.403delG	19.37:g.1219351delG	ENSP00000324856:p.Gly135fs	TSP Lung(3;<1E-08)				STK11_ENST00000585748.1_3'UTR	p.G135fs	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)	3	1576	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)	135		G -> R (in melanoma; sporadic malignant; somatic mutation).	Protein kinase.		B2RBX7|E7EW76	Frame_Shift_Del	DEL	ENST00000326873.7	37	c.403delG	CCDS45896.1																																																																																				0.682	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455		2	4						2	4	---	---	---	---
