#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
USH2A	7399	broad.mit.edu	37	1	215972326	215972326	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr1:215972326C>G	ENST00000307340.3	-	50	10267	c.9881G>C	c.(9880-9882)tGc>tCc	p.C3294S	USH2A_ENST00000366943.2_Missense_Mutation_p.C3294S	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3294					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCTGCCACAGCACTTCTGGCC	0.527										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(9880-9882)tGc>tCc		Usher syndrome 2A (autosomal recessive, mild)							163.0	137.0	146.0					1																	215972326		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215972326C>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9881G>C	1.37:g.215972326C>G	ENSP00000305941:p.Cys3294Ser	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.C3294S	p.C3294S			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	50	10267	-			3294					Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.9881G>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.532168	0.85812	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.62941	-0.0;-0.01	5.81	4.9	0.64082	Fibronectin, type III (2);	0.000000	0.48286	D	0.000196	T	0.80099	0.4561	M	0.86420	2.815	0.53005	D	0.999964	D	0.76494	0.999	D	0.64144	0.922	D	0.84223	0.0462	10	0.87932	D	0	.	14.541	0.67995	0.0:0.9304:0.0:0.0696	.	3294	O75445	USH2A_HUMAN	S	3294	ENSP00000305941:C3294S;ENSP00000355910:C3294S	ENSP00000305941:C3294S	C	-	2	0	USH2A	214038949	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.248000	0.58760	1.454000	0.47793	0.655000	0.94253	TGC		0.527	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		9	113	0	0	0	1	0	9	113				
GREB1	9687	broad.mit.edu	37	2	11702615	11702615	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr2:11702615G>A	ENST00000381486.2	+	3	484	c.184G>A	c.(184-186)Gag>Aag	p.E62K	RNU2-13P_ENST00000515909.1_RNA|GREB1_ENST00000234142.5_Missense_Mutation_p.E62K|GREB1_ENST00000381483.2_Missense_Mutation_p.E62K|RNA5SP85_ENST00000365378.1_RNA|GREB1_ENST00000389825.3_5'UTR|GREB1_ENST00000263834.5_Missense_Mutation_p.E62K	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	62						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CAATGAGGAAGAGGAAGAAGA	0.582																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(184-186)Gag>Aag		growth regulation by estrogen in breast cancer 1							133.0	119.0	124.0					2																	11702615		2203	4300	6503	SO:0001583	missense	9687					integral to membrane		g.chr2:11702615G>A		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.184G>A	2.37:g.11702615G>A	ENSP00000370896:p.Glu62Lys					GREB1_ENST00000389825.3_5'UTR|GREB1_ENST00000263834.5_Missense_Mutation_p.E62K|GREB1_ENST00000234142.5_Missense_Mutation_p.E62K|GREB1_ENST00000381483.2_Missense_Mutation_p.E62K	p.E62K	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	3	484	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		62					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.184G>A	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068105	0.76301	.	.	ENSG00000196208	ENST00000381486;ENST00000263834;ENST00000381483;ENST00000234142	T;T;T;T	0.19105	3.13;2.17;2.18;3.13	5.21	5.21	0.72293	.	0.188875	0.45361	D	0.000379	T	0.41604	0.1166	L	0.59436	1.845	0.58432	D	0.999997	D;D;D	0.76494	0.999;0.998;0.993	D;D;P	0.83275	0.996;0.994;0.879	T	0.12041	-1.0563	10	0.12103	T	0.63	-42.1301	18.3449	0.90318	0.0:0.0:1.0:0.0	.	62;62;62	Q4ZG55-2;Q4ZG55-3;Q4ZG55	.;.;GREB1_HUMAN	K	62	ENSP00000370896:E62K;ENSP00000263834:E62K;ENSP00000370892:E62K;ENSP00000234142:E62K	ENSP00000234142:E62K	E	+	1	0	GREB1	11620066	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.941000	0.87700	2.443000	0.82685	0.555000	0.69702	GAG		0.582	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		10	188	0	0	0	1	0	10	188				
RPS6KB1	6198	broad.mit.edu	37	17	57990092	57990092	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr17:57990092A>G	ENST00000225577.4	+	3	260	c.239A>G	c.(238-240)aAc>aGc	p.N80S	RPS6KB1_ENST00000406116.3_Missense_Mutation_p.N80S|RPS6KB1_ENST00000443572.2_Missense_Mutation_p.N80S|RPS6KB1_ENST00000393021.3_Missense_Mutation_p.N27S	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	80					aging (GO:0007568)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell development (GO:0007281)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue growth (GO:0048633)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of glucose import (GO:0046324)|response to drug (GO:0042493)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to ethanol (GO:0045471)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to leucine (GO:0043201)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|response to tumor necrosis factor (GO:0034612)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			ACTAGTGTGAACAGAGGGCCA	0.368																																						ENST00000225577.4																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(238-240)aAc>aGc		ribosomal protein S6 kinase, 70kDa, polypeptide 1							127.0	127.0	127.0					17																	57990092		2203	4300	6503	SO:0001583	missense	6198				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity	g.chr17:57990092A>G	M60724	CCDS11621.1, CCDS62271.1, CCDS62272.1, CCDS62273.1	17q23.1	2011-04-05	2002-08-29		ENSG00000108443	ENSG00000108443			10436	protein-coding gene	gene with protein product		608938	"""ribosomal protein S6 kinase, 70kD, polypeptide 1"""	STK14A		1922062	Standard	NM_003161		Approved	S6K1, p70(S6K)-alpha, PS6K	uc002ixy.4	P23443	OTTHUMG00000150642	ENST00000225577.4:c.239A>G	17.37:g.57990092A>G	ENSP00000225577:p.Asn80Ser					RPS6KB1_ENST00000443572.2_Missense_Mutation_p.N80S|RPS6KB1_ENST00000406116.3_Missense_Mutation_p.N80S|RPS6KB1_ENST00000393021.3_Missense_Mutation_p.N27S	p.N80S	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)		3	260	+	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		80					B2R779|B4DLT4|B4DTG1|E7ESB8|F6UYM1|Q7Z721	Missense_Mutation	SNP	ENST00000225577.4	37	c.239A>G	CCDS11621.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.723510	0.89298	.	.	ENSG00000108443	ENST00000443572;ENST00000406116;ENST00000225577;ENST00000393021	T;T;T;T	0.72615	-0.67;-0.27;-0.34;-0.28	5.86	5.86	0.93980	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.84056	0.5388	M	0.78049	2.395	0.80722	D	1	P;D;D	0.89917	0.882;0.997;1.0	P;P;D	0.74348	0.718;0.887;0.983	D	0.85709	0.1318	10	0.62326	D	0.03	.	15.9266	0.79621	1.0:0.0:0.0:0.0	.	80;80;80	F6UYM1;Q7Z721;P23443	.;.;KS6B1_HUMAN	S	80;80;80;27	ENSP00000441993:N80S;ENSP00000384335:N80S;ENSP00000225577:N80S;ENSP00000376744:N27S	ENSP00000225577:N80S	N	+	2	0	RPS6KB1	55344874	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.842000	0.92136	2.241000	0.73720	0.528000	0.53228	AAC		0.368	RPS6KB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319324.1	NM_003161		106	216	0	0	0	1	0	106	216				
RET	5979	broad.mit.edu	37	10	43615005	43615005	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr10:43615005G>A	ENST00000355710.3	+	14	2651	c.2419G>A	c.(2419-2421)Gcc>Acc	p.A807T	RET_ENST00000340058.5_Missense_Mutation_p.A807T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	807	Inhibitors binding.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CGTGGAGTACGCCAAATACGG	0.701		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"""T, Mis, N, F"""	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(2419-2421)Gcc>Acc		ret proto-oncogene	Sunitinib(DB01268)						11.0	12.0	12.0					10																	43615005		2186	4258	6444	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43615005G>A	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2419G>A	10.37:g.43615005G>A	ENSP00000347942:p.Ala807Thr					RET_ENST00000340058.5_Missense_Mutation_p.A807T	p.A807T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			14	2651	+		Ovarian(717;0.0423)	807			Protein kinase.		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.2419G>A	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359630	0.82353	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	D;D	0.89681	-2.55;-2.55	5.36	5.36	0.76844	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94387	0.8195	M	0.73430	2.235	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.962;0.987;0.962	D	0.94776	0.7949	10	0.87932	D	0	.	19.0766	0.93165	0.0:0.0:1.0:0.0	.	553;807;807	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	T	807	ENSP00000347942:A807T;ENSP00000344798:A807T	ENSP00000344798:A807T	A	+	1	0	RET	42935011	1.000000	0.71417	1.000000	0.80357	0.085000	0.17905	9.855000	0.99526	2.518000	0.84900	0.313000	0.20887	GCC		0.701	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		8	16	0	0	0	1	0	8	16				
TP53	7157	broad.mit.edu	37	17	7574003	7574003	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr17:7574003G>A	ENST00000269305.4	-	10	1213	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R342*|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	342	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCAGCTCTCGGAACATCTCG	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000269305.4		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		89	Substitution - Nonsense(70)|Whole gene deletion(8)|Deletion - Frameshift(7)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)	p.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(1)	breast(16)|upper_aerodigestive_tract(11)|large_intestine(9)|central_nervous_system(9)|ovary(7)|lung(6)|skin(5)|liver(5)|haematopoietic_and_lymphoid_tissue(4)|pancreas(4)|bone(4)|stomach(2)|urinary_tract(2)|oesophagus(2)|kidney(1)|peritoneum(1)|endometrium(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM004908	TP53	M		c.(1024-1026)Cga>Tga	Other conserved DNA damage response genes	tumor protein p53							62.0	48.0	53.0					17																	7574003		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7574003G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1024C>T	17.37:g.7574003G>A	ENSP00000269305:p.Arg342*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R342*	p.R342*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	10	1213	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	342		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.1024C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.061927	0.97246	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.43	3.43	0.39272	.	0.217683	0.37906	N	0.001893	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-0.3792	6.4477	0.21885	0.0845:0.0:0.5925:0.323	.	.	.	.	X	342;342;331	.	ENSP00000269305:R342X	R	-	1	2	TP53	7514728	0.820000	0.29190	0.702000	0.30337	0.859000	0.49053	2.169000	0.42434	0.657000	0.30906	0.561000	0.74099	CGA		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		22	33	0	0	0	1	0	22	33				
POPDC3	64208	broad.mit.edu	37	6	105606400	105606400	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr6:105606400C>T	ENST00000254765.3	-	4	1099	c.821G>A	c.(820-822)cGc>cAc	p.R274H	POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000369120.2_RNA|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	274					regulation of membrane potential (GO:0042391)	integral component of membrane (GO:0016021)				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				GGGTGATCTGCGTATTTCTGG	0.348																																						ENST00000254765.3																			0				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26						c.(820-822)cGc>cAc		popeye domain containing 3							111.0	112.0	111.0					6																	105606400		2203	4300	6503	SO:0001583	missense	64208					integral to membrane		g.chr6:105606400C>T	BC022323	CCDS5052.1	6q21	2003-06-12			ENSG00000132429	ENSG00000132429			17649	protein-coding gene	gene with protein product		605824				10882522	Standard	NM_022361		Approved	POP3, MGC22671, bA355M14.1	uc003prb.3	Q9HBV1	OTTHUMG00000015293	ENST00000254765.3:c.821G>A	6.37:g.105606400C>T	ENSP00000254765:p.Arg274His					BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000369120.2_RNA|POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000580854.1_RNA	p.R274H	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN			4	1099	-		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)	274					B2RA98|Q5T3Y8|Q8TBW6	Missense_Mutation	SNP	ENST00000254765.3	37	c.821G>A	CCDS5052.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.077067	0.36662	.	.	ENSG00000132429	ENST00000254765	T	0.18810	2.19	5.99	4.21	0.49690	.	0.795218	0.11407	N	0.567210	T	0.04048	0.0113	N	0.08118	0	0.09310	N	1	B	0.24483	0.104	B	0.19666	0.026	T	0.36986	-0.9725	10	0.46703	T	0.11	-13.071	9.3445	0.38100	0.0794:0.1659:0.7546:0.0	.	274	Q9HBV1	POPD3_HUMAN	H	274	ENSP00000254765:R274H	ENSP00000254765:R274H	R	-	2	0	POPDC3	105713093	0.715000	0.27946	0.257000	0.24404	0.963000	0.63663	0.930000	0.28858	1.538000	0.49270	0.591000	0.81541	CGC		0.348	POPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041651.1	NM_022361		86	126	0	0	0	1	0	86	126				
OLFML2B	25903	broad.mit.edu	37	1	161967952	161967952	+	Silent	SNP	C	C	T			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr1:161967952C>T	ENST00000294794.3	-	6	1560	c.1137G>A	c.(1135-1137)tcG>tcA	p.S379S	OLFML2B_ENST00000367940.2_Silent_p.S380S	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	379					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GATCTGAGGTCGAGGGCTGTG	0.627																																						ENST00000294794.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1135-1137)tcG>tcA		olfactomedin-like 2B							156.0	164.0	162.0					1																	161967952		2203	4300	6503	SO:0001819	synonymous_variant	25903							g.chr1:161967952C>T	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1137G>A	1.37:g.161967952C>T						OLFML2B_ENST00000367940.2_Silent_p.S380S	p.S379S	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		6	1560	-	all_hematologic(112;0.156)		379					B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Silent	SNP	ENST00000294794.3	37	c.1137G>A	CCDS1236.1																																																																																				0.627	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		5	239	0	0	0	1	0	5	239				
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	lincRNA	SNP	T	T	C			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA|RN7SL214P_ENST00000487317.2_RNA																							CCACCTGGGATTGGAGCTTTC	0.562																																						ENST00000565869.1																			0																																																			0							g.chr15:78211548T>C																													15.37:g.78211548T>C						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.562	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			7	276	0	0	0	1	0	7	276				
FIBP	9158	broad.mit.edu	37	11	65653868	65653868	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr11:65653868T>C	ENST00000338369.2	-	4	549	c.437A>G	c.(436-438)aAg>aGg	p.K146R	FIBP_ENST00000533045.1_Missense_Mutation_p.K143R|FIBP_ENST00000426652.2_5'UTR|FIBP_ENST00000357519.4_Missense_Mutation_p.K146R	NM_198897.1	NP_942600.1	O43427	FIBP_HUMAN	fibroblast growth factor (acidic) intracellular binding protein	146					fibroblast growth factor receptor signaling pathway (GO:0008543)|platelet aggregation (GO:0070527)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10				READ - Rectum adenocarcinoma(159;0.166)		CTCTACCACCTTGAAGACCCG	0.522																																						ENST00000338369.2																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10						c.(436-438)aAg>aGg		fibroblast growth factor (acidic) intracellular binding protein							140.0	120.0	127.0					11																	65653868		2201	4296	6497	SO:0001583	missense	9158				fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding	g.chr11:65653868T>C	AF010187	CCDS8118.1, CCDS8119.1	11q13.1	2006-06-15			ENSG00000172500	ENSG00000172500			3705	protein-coding gene	gene with protein product		608296				9806903	Standard	NM_004214		Approved	FGFIBP	uc001ogd.3	O43427	OTTHUMG00000166846	ENST00000338369.2:c.437A>G	11.37:g.65653868T>C	ENSP00000344572:p.Lys146Arg					FIBP_ENST00000533045.1_Missense_Mutation_p.K143R|FIBP_ENST00000426652.2_5'UTR|FIBP_ENST00000357519.4_Missense_Mutation_p.K146R	p.K146R	NM_198897.1	NP_942600.1	O43427	FIBP_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	4	549	-			146					A8K0J7|Q27Q85|Q6IBQ3|Q9HD65	Missense_Mutation	SNP	ENST00000338369.2	37	c.437A>G	CCDS8119.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.955220	0.73902	.	.	ENSG00000172500	ENST00000338369;ENST00000357519;ENST00000533045	T;T;T	0.26373	1.74;1.74;1.74	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.39306	0.1073	L	0.41710	1.295	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.87578	0.992;0.998;0.998	T	0.11767	-1.0574	10	0.45353	T	0.12	-14.3274	11.4494	0.50142	0.0:0.0:0.0:1.0	.	143;146;146	E9PSD3;O43427-2;O43427	.;.;FIBP_HUMAN	R	146;146;143	ENSP00000344572:K146R;ENSP00000350124:K146R;ENSP00000434043:K143R	ENSP00000344572:K146R	K	-	2	0	FIBP	65410444	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.953000	0.75995	1.799000	0.52666	0.379000	0.24179	AAG		0.522	FIBP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000391575.2	NM_198897		14	223	0	0	0	1	0	14	223				
TRIM58	25893	broad.mit.edu	37	1	248039310	248039310	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr1:248039310A>G	ENST00000366481.3	+	6	1028	c.980A>G	c.(979-981)gAg>gGg	p.E327G	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	327	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AACAACCCTGAGCGATTTGAC	0.592																																						ENST00000366481.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63						c.(979-981)gAg>gGg		tripartite motif containing 58							115.0	102.0	107.0					1																	248039310		2203	4300	6503	SO:0001583	missense	25893					intracellular	zinc ion binding	g.chr1:248039310A>G	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.980A>G	1.37:g.248039310A>G	ENSP00000355437:p.Glu327Gly					OR2W3_ENST00000537741.1_5'UTR	p.E327G	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		6	1028	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	327			B30.2/SPRY.		Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	c.980A>G	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	A	18.11	3.551687	0.65311	.	.	ENSG00000162722	ENST00000366481	T	0.16324	2.35	3.91	3.91	0.45181	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);B30.2/SPRY domain (1);	0.103731	0.42964	D	0.000632	T	0.28732	0.0712	L	0.57130	1.785	0.80722	D	1	P	0.40197	0.706	P	0.51266	0.664	T	0.03112	-1.1071	10	0.72032	D	0.01	.	11.3901	0.49809	1.0:0.0:0.0:0.0	.	327	Q8NG06	TRI58_HUMAN	G	327	ENSP00000355437:E327G	ENSP00000355437:E327G	E	+	2	0	TRIM58	246105933	1.000000	0.71417	0.905000	0.35620	0.937000	0.57800	5.330000	0.65899	2.016000	0.59253	0.454000	0.30748	GAG		0.592	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		5	78	0	0	0	1	0	5	78				
RYK	6259	broad.mit.edu	37	3	133913946	133913946	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr3:133913946T>C	ENST00000427044.2	-	8	903	c.293A>G	c.(292-294)aAc>aGc	p.N98S	RYK_ENST00000296084.4_Missense_Mutation_p.N288S			P34925	RYK_HUMAN	receptor-like tyrosine kinase	287	WIF. {ECO:0000255|PROSITE- ProRule:PRU00222}.				axon guidance (GO:0007411)|corpus callosum development (GO:0022038)|neuron differentiation (GO:0030182)|neuron projection development (GO:0031175)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of MAPK cascade (GO:0043410)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			lung(1)|ovary(3)	4						AGTTGCATTGTTGGGCGTGTC	0.458																																						ENST00000427044.2																			0				lung(1)|ovary(3)	4						c.(292-294)aAc>aGc		receptor-like tyrosine kinase							121.0	119.0	120.0					3																	133913946		1962	4143	6105	SO:0001583	missense	6259				corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr3:133913946T>C	S59184	CCDS75016.1	3q22.1	2012-02-28	2012-02-28		ENSG00000163785	ENSG00000163785	2.7.10.1		10481	protein-coding gene	gene with protein product		600524	"""JTK5A protein tyrosine kinase"", ""RYK receptor-like tyrosine kinase"""	JTK5A		8386829	Standard	NM_001005861		Approved	D3S3195, RYK1, JTK5	uc003eqc.1	P34925	OTTHUMG00000159750	ENST00000427044.2:c.293A>G	3.37:g.133913946T>C	ENSP00000399527:p.Asn98Ser					RYK_ENST00000296084.4_Missense_Mutation_p.N288S	p.N98S			P34925	RYK_HUMAN			8	903	-			287			WIF.		Q04696	Missense_Mutation	SNP	ENST00000427044.2	37	c.293A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.06|13.06	2.124492|2.124492	0.37533|0.37533	.|.	.|.	ENSG00000163785|ENSG00000163785	ENST00000296084;ENST00000427044|ENST00000460933	T;T|.	0.78126|.	2.0;-1.15|.	5.63|5.63	4.45|4.45	0.53987|0.53987	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.51058|0.51058	0.1652|0.1652	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	D;D|.	0.61697|.	0.982;0.99|.	D;D|.	0.72982|.	0.952;0.979|.	T|T	0.43081|0.43081	-0.9413|-0.9413	10|5	0.08599|.	T|.	0.76|.	-7.2052|-7.2052	13.0742|13.0742	0.59077|0.59077	0.0:0.0:0.1343:0.8657|0.0:0.0:0.1343:0.8657	.|.	287;287|.	P34925;P34925-2|.	RYK_HUMAN;.|.	S|A	288;98|270	ENSP00000296084:N288S;ENSP00000399527:N98S|.	ENSP00000296084:N288S|.	N|T	-|-	2|1	0|0	RYK|RYK	135396636|135396636	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.645000|7.645000	0.83430|0.83430	1.038000|1.038000	0.40049|0.40049	0.460000|0.460000	0.39030|0.39030	AAC|ACA		0.458	RYK-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001005861		27	39	0	0	0	1	0	27	39				
NR2F2	7026	broad.mit.edu	37	15	96875568	96875568	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr15:96875568G>C	ENST00000394166.3	+	1	1623	c.234G>C	c.(232-234)gaG>gaC	p.E78D	MIR1469_ENST00000410719.1_RNA|NR2F2_ENST00000421109.2_Intron|NR2F2_ENST00000453270.2_5'Flank|NR2F2_ENST00000394171.2_5'Flank	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	78					anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			AACACATCGAGTGCGTGGTGT	0.682																																						ENST00000394166.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17						c.(232-234)gaG>gaC		nuclear receptor subfamily 2, group F, member 2							35.0	27.0	30.0					15																	96875568		2195	4297	6492	SO:0001583	missense	7026				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr15:96875568G>C	M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"""Nuclear hormone receptors"""	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.234G>C	15.37:g.96875568G>C	ENSP00000377721:p.Glu78Asp					NR2F2_ENST00000421109.2_Intron	p.E78D	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0856)		1	1623	+	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		78					B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Missense_Mutation	SNP	ENST00000394166.3	37	c.234G>C	CCDS10375.1	.	.	.	.	.	.	.	.	.	.	G	8.593	0.884961	0.17540	.	.	ENSG00000185551	ENST00000394166	D	0.96365	-3.99	4.66	4.66	0.58398	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.426017	0.19476	N	0.113337	D	0.90714	0.7086	N	0.17764	0.52	0.80722	D	1	B	0.18863	0.031	B	0.22386	0.039	D	0.85886	0.1425	10	0.11485	T	0.65	.	10.8303	0.46656	0.0934:0.0:0.9066:0.0	.	78	P24468	COT2_HUMAN	D	78	ENSP00000377721:E78D	ENSP00000377721:E78D	E	+	3	2	NR2F2	94676572	1.000000	0.71417	1.000000	0.80357	0.507000	0.33981	1.879000	0.39618	2.128000	0.65567	0.563000	0.77884	GAG		0.682	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1			8	13	0	0	0	1	0	8	13				
SIGMAR1	10280	broad.mit.edu	37	9	34635806	34635806	+	Silent	SNP	C	C	T			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr9:34635806C>T	ENST00000277010.4	-	4	568	c.495G>A	c.(493-495)ggG>ggA	p.G165G	SIGMAR1_ENST00000378892.1_Silent_p.G76G|SIGMAR1_ENST00000477726.1_Silent_p.G134G|SIGMAR1_ENST00000461426.1_5'UTR	NM_001282208.1|NM_005866.2	NP_001269137.1|NP_005857.1	Q99720	SGMR1_HUMAN	sigma non-opioid intracellular receptor 1	165					cell death (GO:0008219)|lipid transport (GO:0006869)|nervous system development (GO:0007399)|regulation of neuron apoptotic process (GO:0043523)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lipid particle (GO:0005811)|nuclear envelope (GO:0005635)	drug binding (GO:0008144)|opioid receptor activity (GO:0004985)			large_intestine(1)|lung(1)	2					Amitriptyline(DB00321)|Dextromethorphan(DB00514)|Nortriptyline(DB00540)|Pentazocine(DB00652)|Remoxipride(DB00409)	ATGTGTTTGGCCCCCACTCCA	0.647																																						ENST00000378892.1																			0				large_intestine(1)|lung(1)	2						c.(226-228)ggG>ggA		sigma non-opioid intracellular receptor 1	Dextromethorphan(DB00514)						100.0	92.0	95.0					9																	34635806		2203	4300	6503	SO:0001819	synonymous_variant	10280				ergosterol biosynthetic process|lipid transport	cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane	C-8 sterol isomerase activity|drug binding	g.chr9:34635806C>T	BC004899	CCDS6562.1, CCDS6563.1	9p13.3	2008-12-18	2008-12-18	2008-12-18	ENSG00000147955	ENSG00000147955			8157	protein-coding gene	gene with protein product		601978	"""opioid receptor, sigma 1"""	OPRS1		8954936, 9453537	Standard	NM_005866		Approved	SR-BP1	uc003zvb.3	Q99720	OTTHUMG00000019829	ENST00000277010.4:c.495G>A	9.37:g.34635806C>T						SIGMAR1_ENST00000277010.4_Silent_p.G165G|SIGMAR1_ENST00000461426.1_5'UTR|SIGMAR1_ENST00000477726.1_Silent_p.G134G	p.G76G			Q99720	SGMR1_HUMAN			3	655	-			165					D3DRM7|O00673|O00725|Q0Z9W6|Q153Z1|Q2TSD1|Q53GN2|Q7Z653|Q8N7H3|Q9NYX0	Silent	SNP	ENST00000277010.4	37	c.228G>A	CCDS6562.1																																																																																				0.647	SIGMAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052204.1	NM_005866		46	53	0	0	0	1	0	46	53				
SPTA1	6708	broad.mit.edu	37	1	158615124	158615124	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr1:158615124C>G	ENST00000368147.4	-	29	4228	c.4048G>C	c.(4048-4050)Gac>Cac	p.D1350H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1350					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCACTGAAGTCCTCTAAGGCC	0.502																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(4048-4050)Gac>Cac		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							79.0	75.0	77.0					1																	158615124		1920	4143	6063	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158615124C>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4048G>C	1.37:g.158615124C>G	ENSP00000357129:p.Asp1350His					SPTA1_ENST00000368147.3_Missense_Mutation_p.D1350H	p.D1350H	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			29	4228	-	all_hematologic(112;0.0378)		1350					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.4048G>C	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.241669	0.58995	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.52057	0.68;0.68	4.66	3.74	0.42951	.	.	.	.	.	T	0.48277	0.1491	M	0.68952	2.095	0.41198	D	0.986354	P	0.48230	0.907	P	0.56343	0.796	T	0.47873	-0.9083	9	0.36615	T	0.2	.	12.7653	0.57388	0.0:0.5575:0.4425:0.0	.	1350	P02549	SPTA1_HUMAN	H	1350	ENSP00000357130:D1350H;ENSP00000357129:D1350H	ENSP00000357129:D1350H	D	-	1	0	SPTA1	156881748	1.000000	0.71417	0.334000	0.25495	0.944000	0.59088	5.093000	0.64517	1.300000	0.44818	-0.172000	0.13284	GAC		0.502	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		8	131	0	0	0	1	0	8	131				
OR5M8	219484	broad.mit.edu	37	11	56258358	56258358	+	Nonsense_Mutation	SNP	G	G	T			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr11:56258358G>T	ENST00000327216.2	-	1	513	c.489C>A	c.(487-489)taC>taA	p.Y163*		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	163						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					AGGCTAGGTTGTAGGTCCACA	0.498																																						ENST00000327216.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(487-489)taC>taA		olfactory receptor, family 5, subfamily M, member 8							86.0	85.0	85.0					11																	56258358		2201	4296	6497	SO:0001587	stop_gained	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258358G>T	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.489C>A	11.37:g.56258358G>T	ENSP00000323354:p.Tyr163*						p.Y163*	NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN			1	513	-	Esophageal squamous(21;0.00352)		163					B2RNM5|Q6IEW3|Q96RB8	Nonsense_Mutation	SNP	ENST00000327216.2	37	c.489C>A	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.931366	0.52866	.	.	ENSG00000181371	ENST00000327216	.	.	.	4.35	2.46	0.29980	.	0.000000	0.36444	N	0.002598	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-22.3317	8.8028	0.34918	0.1904:0.0:0.8096:0.0	.	.	.	.	X	163	.	ENSP00000323354:Y163X	Y	-	3	2	OR5M8	56014934	0.000000	0.05858	0.811000	0.32455	0.830000	0.47004	-3.243000	0.00543	0.419000	0.25927	0.632000	0.83419	TAC		0.498	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		8	148	1	0	7.48243e-07	1	7.93591e-07	8	148				
ALK	238	broad.mit.edu	37	2	29917793	29917793	+	Missense_Mutation	SNP	C	C	T	rs149145987		TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr2:29917793C>T	ENST00000389048.3	-	3	1781	c.875G>A	c.(874-876)cGc>cAc	p.R292H	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	292	MAM 1. {ECO:0000255|PROSITE- ProRule:PRU00128}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	GGAGGGGATGCGGCGCCAGGA	0.597			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				C|||	1	0.000199681	0.0008	0.0	5008	,	,		17485	0.0		0.0	False		,,,				2504	0.0					ENST00000389048.3			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	"""T, Mis, A"""	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	neuroblastoma	"""ALCL, NSCLC, Neuroblastoma"""	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	0				NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340						c.(874-876)cGc>cAc		anaplastic lymphoma receptor tyrosine kinase	Adenosine triphosphate(DB00171)	C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	100.0	97.0	98.0		875	0.4	0.2	2	dbSNP_134	98	0,8600		0,0,4300	yes	missense	ALK	NM_004304.4	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	292/1621	29917793	1,13005	2203	4300	6503	SO:0001583	missense	238	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29917793C>T	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.875G>A	2.37:g.29917793C>T	ENSP00000373700:p.Arg292His					ALK_ENST00000431873.1_Intron	p.R292H	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN			3	1781	-	Acute lymphoblastic leukemia(172;0.155)		292			MAM 1.		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.875G>A	CCDS33172.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	7.551	0.662775	0.14645	2.27E-4	0.0	ENSG00000171094	ENST00000389048	T	0.02525	4.26	5.97	0.444	0.16592	Concanavalin A-like lectin/glucanase (1);MAM domain (2);	.	.	.	.	T	0.01592	0.0051	N	0.08118	0	0.53688	D	0.999975	B	0.06786	0.001	B	0.08055	0.003	T	0.53472	-0.8434	8	.	.	.	.	9.5318	0.39198	0.0:0.5909:0.0:0.4091	.	292	Q9UM73	ALK_HUMAN	H	292	ENSP00000373700:R292H	.	R	-	2	0	ALK	29771297	0.029000	0.19370	0.179000	0.23059	0.318000	0.28184	0.027000	0.13621	0.122000	0.18314	-0.150000	0.13652	CGC		0.597	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		4	201	0	0	0	1	0	4	201				
PIWIL4	143689	broad.mit.edu	37	11	94328504	94328504	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr11:94328504C>T	ENST00000299001.6	+	10	1391	c.1180C>T	c.(1180-1182)Cag>Tag	p.Q394*	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	394					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATCTGATTTCCAGCTGATGAA	0.498																																						ENST00000299001.6																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30						c.(1180-1182)Cag>Tag		piwi-like RNA-mediated gene silencing 4							118.0	107.0	110.0					11																	94328504		2201	4298	6499	SO:0001587	stop_gained	143689				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding	g.chr11:94328504C>T	AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"""Argonaute/PIWI family"""	18444	protein-coding gene	gene with protein product		610315	"""piwi-like 4 (Drosophila)"""			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.1180C>T	11.37:g.94328504C>T	ENSP00000299001:p.Gln394*					RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	p.Q394*	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN			10	1391	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	394					B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Nonsense_Mutation	SNP	ENST00000299001.6	37	c.1180C>T	CCDS31656.1	.	.	.	.	.	.	.	.	.	.	C	38	7.088649	0.98055	.	.	ENSG00000134627	ENST00000299001	.	.	.	4.73	3.79	0.43588	.	0.803257	0.10756	N	0.637760	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-0.5259	13.7234	0.62743	0.0:0.8441:0.1559:0.0	.	.	.	.	X	394	.	ENSP00000299001:Q394X	Q	+	1	0	PIWIL4	93968152	0.747000	0.28283	0.013000	0.15412	0.962000	0.63368	2.356000	0.44116	1.171000	0.42768	0.561000	0.74099	CAG		0.498	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1	NM_152431		8	179	0	0	0	1	0	8	179				
CTAGE5	4253	broad.mit.edu	37	14	39763257	39763257	+	Silent	SNP	C	C	G	rs199571113		TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr14:39763257C>G	ENST00000280083.3	+	7	863	c.549C>G	c.(547-549)ctC>ctG	p.L183L	CTAGE5_ENST00000396165.4_Silent_p.L154L|CTAGE5_ENST00000348007.3_Silent_p.L183L|RP11-407N17.3_ENST00000603904.1_Silent_p.L154L|CTAGE5_ENST00000556148.1_Silent_p.L108L|RP11-407N17.3_ENST00000553728.1_Silent_p.L718L|CTAGE5_ENST00000553352.1_Silent_p.L154L|CTAGE5_ENST00000341502.5_Silent_p.L183L|CTAGE5_ENST00000341749.3_Silent_p.L171L|CTAGE5_ENST00000396158.2_Silent_p.L188L|CTAGE5_ENST00000557038.1_Silent_p.L103L			O15320	CTGE5_HUMAN	CTAGE family, member 5	183					positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		CAAAATCCCTCAAATCACAAG	0.299																																						ENST00000553728.1																			0											c.(2152-2154)ctC>ctG									108.0	118.0	115.0					14																	39763257		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr14:39763257C>G	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.549C>G	14.37:g.39763257C>G						CTAGE5_ENST00000553352.1_Silent_p.L154L|CTAGE5_ENST00000341502.5_Silent_p.L183L|CTAGE5_ENST00000341749.3_Silent_p.L171L|CTAGE5_ENST00000396165.4_Silent_p.L154L|RP11-407N17.3_ENST00000603904.1_Silent_p.L154L|CTAGE5_ENST00000280083.3_Silent_p.L183L|CTAGE5_ENST00000396158.2_Silent_p.L188L|CTAGE5_ENST00000556148.1_Silent_p.L108L|CTAGE5_ENST00000348007.3_Silent_p.L183L|CTAGE5_ENST00000557038.1_Silent_p.L103L	p.L718L							11	2367	+								B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Silent	SNP	ENST00000280083.3	37	c.2154C>G	CCDS9674.1																																																																																				0.299	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		18	239	0	0	0	1	0	18	239				
STOM	2040	broad.mit.edu	37	9	124116908	124116908	+	Missense_Mutation	SNP	C	C	T	rs115867734	byFrequency	TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr9:124116908C>T	ENST00000286713.2	-	3	226	c.209G>A	c.(208-210)cGc>cAc	p.R70H	STOM_ENST00000538954.1_Missense_Mutation_p.R19H|STOM_ENST00000347359.2_Intron	NM_001270526.1|NM_004099.5	NP_001257455.1|NP_004090.4	P27105	STOM_HUMAN	stomatin	70					protein homooligomerization (GO:0051260)|regulation of acid-sensing ion channel activity (GO:1901585)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|vesicle (GO:0031982)				endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)		TTGTAAAATGCGACCCAATCT	0.294													C|||	8	0.00159744	0.0008	0.0	5008	,	,		16631	0.006		0.0	False		,,,				2504	0.001					ENST00000286713.2																			0				endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1)	6						c.(208-210)cGc>cAc		stomatin							54.0	53.0	53.0					9																	124116908		2203	4300	6503	SO:0001583	missense	2040				protein homooligomerization	cytoskeleton|integral to plasma membrane|melanosome|membrane raft	protein binding	g.chr9:124116908C>T		CCDS6830.1, CCDS6831.1, CCDS75892.1	9q34.1	2008-07-21	2002-11-11	2002-11-15	ENSG00000148175	ENSG00000148175			3383	protein-coding gene	gene with protein product		133090	"""erythrocyte membrane protein band 7.2 (stomatin)"""	EPB7, EPB72		1883838	Standard	NM_198194		Approved	BND7	uc004blh.4	P27105	OTTHUMG00000020590	ENST00000286713.2:c.209G>A	9.37:g.124116908C>T	ENSP00000286713:p.Arg70His					STOM_ENST00000538954.1_Missense_Mutation_p.R19H|STOM_ENST00000347359.2_Intron	p.R70H	NM_004099.4	NP_004090.4	P27105	STOM_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)	3	226	-			70					B1AM77|Q14087|Q15609|Q5VX96|Q96FK4	Missense_Mutation	SNP	ENST00000286713.2	37	c.209G>A	CCDS6830.1	4	0.0018315018315018315	1	0.0020325203252032522	0	0.0	3	0.005244755244755245	0	0.0	C	35	5.534916	0.96460	.	.	ENSG00000148175	ENST00000286713;ENST00000538954	D;D	0.95205	-3.64;-3.64	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	D	0.97343	0.9131	M	0.94101	3.495	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.95778	0.8814	10	0.52906	T	0.07	.	19.4659	0.94939	0.0:1.0:0.0:0.0	.	70	P27105	STOM_HUMAN	H	70;19	ENSP00000286713:R70H;ENSP00000445764:R19H	ENSP00000286713:R70H	R	-	2	0	STOM	123156729	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.629000	0.83207	2.840000	0.97914	0.655000	0.94253	CGC		0.294	STOM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053889.1	NM_004099		4	123	0	0	0	1	0	4	123				
ALMS1	7840	broad.mit.edu	37	2	73680594	73680594	+	Missense_Mutation	SNP	G	G	T			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr2:73680594G>T	ENST00000264448.6	+	8	7048	c.6937G>T	c.(6937-6939)Ggt>Tgt	p.G2313C	ALMS1_ENST00000377715.1_Missense_Mutation_p.G2313C|ALMS1_ENST00000409009.1_Missense_Mutation_p.G2271C	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2313					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TGTATCTAATGGTGATTTGCT	0.448																																						ENST00000264448.6																			0				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(6937-6939)Ggt>Tgt		Alstrom syndrome 1							76.0	73.0	74.0					2																	73680594		1885	4105	5990	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73680594G>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.6937G>T	2.37:g.73680594G>T	ENSP00000264448:p.Gly2313Cys					ALMS1_ENST00000377715.1_Missense_Mutation_p.G2313C|ALMS1_ENST00000409009.1_Missense_Mutation_p.G2271C	p.G2313C	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN			8	7048	+			2313					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.6937G>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	8.978	0.974666	0.18736	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.16457	3.22;3.22;2.34	5.23	2.42	0.29668	.	0.920024	0.09032	N	0.858543	T	0.20577	0.0495	N	0.22421	0.69	0.09310	N	1	D;D;D	0.63046	0.992;0.985;0.985	P;P;P	0.55999	0.789;0.717;0.789	T	0.20672	-1.0268	10	0.66056	D	0.02	.	7.2079	0.25917	0.2888:0.0:0.7112:0.0	.	2313;2271;2313	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	C	2271;2313;2313	ENSP00000386627:G2271C;ENSP00000264448:G2313C;ENSP00000366944:G2313C	ENSP00000264448:G2313C	G	+	1	0	ALMS1	73534102	0.000000	0.05858	0.001000	0.08648	0.173000	0.22820	0.395000	0.20850	0.288000	0.22398	0.563000	0.77884	GGT		0.448	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		5	134	1	0	0.184627	1	0.184627	5	134				
DLL3	10683	broad.mit.edu	37	19	39989627	39989627	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr19:39989627C>G	ENST00000205143.4	+	1	20	c.13C>G	c.(13-15)Cgg>Ggg	p.R5G	DLL3_ENST00000356433.5_Missense_Mutation_p.R5G|DLL3_ENST00000600579.1_3'UTR	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	5					compartment pattern specification (GO:0007386)|negative regulation of neurogenesis (GO:0050768)|Notch signaling pathway (GO:0007219)|paraxial mesoderm development (GO:0048339)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)	integral component of membrane (GO:0016021)	Notch binding (GO:0005112)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGTCTCCCCACGGATGTCCGG	0.622																																						ENST00000205143.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19						c.(13-15)Cgg>Ggg		delta-like 3 (Drosophila)							106.0	89.0	95.0					19																	39989627		2203	4300	6503	SO:0001583	missense	10683				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding	g.chr19:39989627C>G	AF241373	CCDS12537.1, CCDS12538.1	19q13.2	2008-05-14	2001-12-03			ENSG00000090932			2909	protein-coding gene	gene with protein product		602768	"""delta (Drosophila)-like 3"""			10364530, 10742114	Standard	NM_203486		Approved	SCDO1	uc002olx.2	Q9NYJ7		ENST00000205143.4:c.13C>G	19.37:g.39989627C>G	ENSP00000205143:p.Arg5Gly					DLL3_ENST00000356433.5_Missense_Mutation_p.R5G|DLL3_ENST00000600579.1_3'UTR	p.R5G	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		1	20	+	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		5					E9PFG2|Q8NBS4	Missense_Mutation	SNP	ENST00000205143.4	37	c.13C>G	CCDS12538.1	.	.	.	.	.	.	.	.	.	.	C	8.251	0.808921	0.16537	.	.	ENSG00000090932	ENST00000356433;ENST00000205143	D;D	0.89617	-2.46;-2.54	3.96	1.7	0.24286	.	0.607555	0.13296	N	0.398639	T	0.75925	0.3916	N	0.08118	0	0.09310	N	1	B;B;B	0.19817	0.011;0.039;0.011	B;B;B	0.17098	0.011;0.011;0.017	T	0.57476	-0.7805	9	.	.	.	.	11.4129	0.49935	0.3195:0.6804:0.0:0.0	.	5;5;5	Q8NBS4;Q9NYJ7;E9PFG2	.;DLL3_HUMAN;.	G	5	ENSP00000348810:R5G;ENSP00000205143:R5G	.	R	+	1	2	DLL3	44681467	0.070000	0.21116	0.000000	0.03702	0.011000	0.07611	0.493000	0.22451	-0.037000	0.13646	-1.367000	0.01198	CGG		0.622	DLL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464958.1			9	172	0	0	0	1	0	9	172				
STAM	8027	broad.mit.edu	37	10	17726892	17726892	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr10:17726892A>G	ENST00000377524.3	+	4	478	c.263A>G	c.(262-264)gAt>gGt	p.D88G	STAM_ENST00000540523.1_Intron	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	88	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						TGTTCAAGAGATTTTGCTAGT	0.313																																						ENST00000377524.3																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(262-264)gAt>gGt		signal transducing adaptor molecule (SH3 domain and ITAM motif) 1							102.0	99.0	100.0					10																	17726892		2203	4300	6503	SO:0001583	missense	8027				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity	g.chr10:17726892A>G	U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.263A>G	10.37:g.17726892A>G	ENSP00000366746:p.Asp88Gly					STAM_ENST00000540523.1_Intron	p.D88G	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN			4	478	+			88			VHS.		B0YJ99|D3DRU5|Q8N6D9	Missense_Mutation	SNP	ENST00000377524.3	37	c.263A>G	CCDS7122.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.790821	0.90367	.	.	ENSG00000136738	ENST00000377524;ENST00000445846	T	0.23348	1.91	5.87	5.87	0.94306	VHS subgroup (1);ENTH/VHS (2);VHS (2);	0.043409	0.85682	D	0.000000	T	0.44095	0.1277	M	0.65498	2.005	0.80722	D	1	D	0.53745	0.962	P	0.54965	0.765	T	0.30060	-0.9991	10	0.48119	T	0.1	-29.2769	16.2853	0.82717	1.0:0.0:0.0:0.0	.	88	Q92783	STAM1_HUMAN	G	88;38	ENSP00000366746:D88G	ENSP00000366746:D88G	D	+	2	0	STAM	17766898	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.271000	0.95698	2.236000	0.73375	0.528000	0.53228	GAT		0.313	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047039.1	NM_003473		48	119	0	0	0	1	0	48	119				
PPP1R3A	5506	broad.mit.edu	37	7	113519703	113519703	+	Silent	SNP	A	A	G			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr7:113519703A>G	ENST00000284601.3	-	4	1512	c.1444T>C	c.(1444-1446)Ttg>Ctg	p.L482L		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	482					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AAACATCCCAAATCTTTTACT	0.373																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(1444-1446)Ttg>Ctg		protein phosphatase 1, regulatory subunit 3A							57.0	56.0	56.0					7																	113519703		2203	4299	6502	SO:0001819	synonymous_variant	5506				glycogen metabolic process	integral to membrane		g.chr7:113519703A>G	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1444T>C	7.37:g.113519703A>G							p.L482L	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	1512	-			482					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP	ENST00000284601.3	37	c.1444T>C	CCDS5759.1																																																																																				0.373	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		11	207	0	0	0	1	0	11	207				
NUB1	51667	broad.mit.edu	37	7	151072988	151072988	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr7:151072988G>A	ENST00000355851.4	+	13	1527	c.1450G>A	c.(1450-1452)Gac>Aac	p.D484N	WDR86_ENST00000463000.1_5'Flank|NUB1_ENST00000413040.2_Missense_Mutation_p.D494N|NUB1_ENST00000568733.1_Missense_Mutation_p.D508N|NUB1_ENST00000566856.1_Missense_Mutation_p.D470N	NM_001243351.1	NP_001230280.1	Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	484					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|response to interferon-gamma (GO:0034341)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		TCCTGAAACCGACAACCGTCA	0.493																																						ENST00000568733.1																			0				endometrium(1)|large_intestine(7)|lung(3)	11						c.(1522-1524)Gac>Aac		negative regulator of ubiquitin-like proteins 1							221.0	219.0	220.0					7																	151072988		1963	4143	6106	SO:0001583	missense	51667				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding	g.chr7:151072988G>A	AF300717	CCDS47751.1, CCDS47751.2, CCDS59089.1	7q36	2006-07-27			ENSG00000013374	ENSG00000013374			17623	protein-coding gene	gene with protein product	"""NEDD8 ultimate buster-1"""	607981				10508479, 11259415	Standard	NM_001243351		Approved	BS4, NYREN18	uc003wjx.3	Q9Y5A7	OTTHUMG00000157365	ENST00000355851.4:c.1450G>A	7.37:g.151072988G>A	ENSP00000348110:p.Asp484Asn					NUB1_ENST00000413040.2_Missense_Mutation_p.D494N|NUB1_ENST00000566856.1_Missense_Mutation_p.D470N|NUB1_ENST00000355851.4_Missense_Mutation_p.D484N	p.D508N			Q9Y5A7	NUB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)	13	1588	+			484			UBA 3.		O95422|Q75MR9|Q8IX22|Q9BXR2	Missense_Mutation	SNP	ENST00000355851.4	37	c.1522G>A		.	.	.	.	.	.	.	.	.	.	G	0.012	-1.671641	0.00758	.	.	ENSG00000013374	ENST00000413040;ENST00000355851	T	0.42513	0.97	5.29	1.42	0.22433	UBA-like (1);	0.997169	0.08136	N	0.992432	T	0.13329	0.0323	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30475	-0.9977	10	0.02654	T	1	-13.5194	3.5859	0.07970	0.6533:0.1362:0.0787:0.1318	.	484;470	Q9Y5A7;Q9Y5A7-2	NUB1_HUMAN;.	N	470;484	ENSP00000348110:D484N	ENSP00000348110:D484N	D	+	1	0	NUB1	150703921	0.001000	0.12720	0.000000	0.03702	0.077000	0.17291	1.025000	0.30090	0.109000	0.17891	-1.421000	0.01109	GAC		0.493	NUB1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_016118		5	324	0	0	0	1	0	5	324				
YAP1	10413	broad.mit.edu	37	11	102076697	102076697	+	Silent	SNP	A	A	G			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr11:102076697A>G	ENST00000282441.5	+	5	1264	c.876A>G	c.(874-876)ggA>ggG	p.G292G	YAP1_ENST00000537274.1_Silent_p.G292G|YAP1_ENST00000531439.1_Silent_p.G292G|YAP1_ENST00000524575.1_Silent_p.G114G|YAP1_ENST00000345877.2_Silent_p.G254G|YAP1_ENST00000526343.1_Silent_p.G254G	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	292	Transactivation domain.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|contact inhibition (GO:0060242)|embryonic heart tube morphogenesis (GO:0003143)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|keratinocyte differentiation (GO:0030216)|lateral mesoderm development (GO:0048368)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|notochord development (GO:0030903)|paraxial mesoderm development (GO:0048339)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of keratinocyte proliferation (GO:0010837)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of stem cell proliferation (GO:0072091)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		GCCCACAGGGAGGCGTCATGG	0.537																																					Colon(50;247 1103 7861 28956)	ENST00000282441.5																			0				central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(874-876)ggA>ggG		Yes-associated protein 1							48.0	54.0	52.0					11																	102076697		2203	4299	6502	SO:0001819	synonymous_variant	10413				cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr11:102076697A>G		CCDS8314.1, CCDS44716.1, CCDS8314.2, CCDS53699.1, CCDS53700.1, CCDS60944.1, CCDS73373.1, CCDS73374.1	11q13	2010-03-19	2010-03-19		ENSG00000137693	ENSG00000137693			16262	protein-coding gene	gene with protein product		606608	"""Yes-associated protein 1, 65kDa"""			7782338	Standard	NM_001130145		Approved	YAP65	uc001pgt.3	P46937	OTTHUMG00000167322	ENST00000282441.5:c.876A>G	11.37:g.102076697A>G						YAP1_ENST00000526343.1_Silent_p.G254G|YAP1_ENST00000345877.2_Silent_p.G254G|YAP1_ENST00000524575.1_Silent_p.G114G|YAP1_ENST00000531439.1_Silent_p.G292G|YAP1_ENST00000537274.1_Silent_p.G292G	p.G292G	NM_001130145.2	NP_001123617.1	P46937	YAP1_HUMAN	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)	5	1264	+	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	292			Transactivation domain.		B4DTY1|B7ZA01|E3WEB5|E3WEB6|E9PRV2|F5H202|K0KQ18|K0KYZ8|K0L195|K0L1G3|Q7Z574|Q8IUY9	Silent	SNP	ENST00000282441.5	37	c.876A>G	CCDS44716.1	.	.	.	.	.	.	.	.	.	.	A	9.079	0.998749	0.19121	.	.	ENSG00000137693	ENST00000529029	.	.	.	5.21	-6.63	0.01807	.	.	.	.	.	T	0.36853	0.0982	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42766	-0.9432	4	.	.	.	.	3.1504	0.06485	0.1525:0.0882:0.3492:0.4101	.	.	.	.	G	42	.	.	E	+	2	0	YAP1	101581907	0.733000	0.28132	0.124000	0.21820	0.840000	0.47671	-0.203000	0.09438	-0.820000	0.04318	-0.378000	0.06908	GAG		0.537	YAP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394151.1	NM_006106		7	111	0	0	0	1	0	7	111				
SMC3	9126	broad.mit.edu	37	10	112361522	112361522	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr10:112361522G>C	ENST00000361804.4	+	24	2898	c.2772G>C	c.(2770-2772)aaG>aaC	p.K924N		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	924					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AACTGGAAAAGATGACAAATC	0.378																																						ENST00000361804.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2770-2772)aaG>aaC		structural maintenance of chromosomes 3							107.0	115.0	112.0					10																	112361522		2203	4300	6503	SO:0001583	missense	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112361522G>C	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.2772G>C	10.37:g.112361522G>C	ENSP00000354720:p.Lys924Asn						p.K924N	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	24	2898	+		Breast(234;0.0848)|Lung NSC(174;0.238)	924					A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	c.2772G>C	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079594	0.55753	.	.	ENSG00000108055	ENST00000361804	T	0.78126	-1.15	5.41	3.52	0.40303	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.87545	0.6204	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88186	0.2874	10	0.54805	T	0.06	.	11.2722	0.49147	0.2138:0.0:0.7862:0.0	.	924	Q9UQE7	SMC3_HUMAN	N	924	ENSP00000354720:K924N	ENSP00000354720:K924N	K	+	3	2	SMC3	112351512	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.663000	0.54518	1.413000	0.46997	0.585000	0.79938	AAG		0.378	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		12	200	0	0	0	1	0	12	200				
EFHC1	114327	broad.mit.edu	37	6	52288806	52288806	+	Silent	SNP	T	T	C			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr6:52288806T>C	ENST00000371068.5	+	2	229	c.126T>C	c.(124-126)cgT>cgC	p.R42R	EFHC1_ENST00000491749.1_3'UTR|EFHC1_ENST00000538167.1_Silent_p.R23R|EFHC1_ENST00000433625.2_5'UTR	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	42						axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					TTGTTCGACGTCCAACAGTTG	0.493																																						ENST00000371068.5																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27						c.(124-126)cgT>cgC		EF-hand domain (C-terminal) containing 1							100.0	93.0	96.0					6																	52288806		2203	4300	6503	SO:0001819	synonymous_variant	114327					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding	g.chr6:52288806T>C	AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093		"""EF-hand domain containing"""	16406	protein-coding gene	gene with protein product	"""myoclonin-1"""	608815	"""epilepsy, juvenile myoclonic 1"""	EJM1, EJM		15258581	Standard	NM_018100		Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.126T>C	6.37:g.52288806T>C						EFHC1_ENST00000433625.2_5'UTR|EFHC1_ENST00000538167.1_Silent_p.R23R|EFHC1_ENST00000491749.1_3'UTR	p.R42R	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN			2	229	+	Lung NSC(77;0.109)		42					B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Silent	SNP	ENST00000371068.5	37	c.126T>C	CCDS4942.1																																																																																				0.493	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2	NM_018100		4	179	0	0	0	1	0	4	179				
SLC4A8	9498	broad.mit.edu	37	12	51882498	51882498	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr12:51882498C>T	ENST00000453097.2	+	18	2519	c.2302C>T	c.(2302-2304)Cgc>Tgc	p.R768C	SLC4A8_ENST00000358657.3_Missense_Mutation_p.R795C	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		AAGGGATGATCGCGGATGGAT	0.378																																						ENST00000453097.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55						c.(2302-2304)Cgc>Tgc		solute carrier family 4, sodium bicarbonate cotransporter, member 8							110.0	101.0	104.0					12																	51882498		2203	4300	6503	SO:0001583	missense	9498				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	g.chr12:51882498C>T	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.2302C>T	12.37:g.51882498C>T	ENSP00000405812:p.Arg768Cys					SLC4A8_ENST00000358657.3_Missense_Mutation_p.R795C	p.R768C	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.15)	18	2519	+			768						Missense_Mutation	SNP	ENST00000453097.2	37	c.2302C>T	CCDS44890.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.307534	0.60305	.	.	ENSG00000050438	ENST00000358657;ENST00000453097;ENST00000319957;ENST00000551071	D;D	0.86694	-2.16;-2.16	4.09	3.18	0.36537	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95082	0.8407	H	0.96604	3.85	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.993;0.998;0.997	D	0.95122	0.8247	10	0.87932	D	0	.	10.7712	0.46323	0.3436:0.6564:0.0:0.0	.	795;768;768	Q2Y0W8-2;Q2Y0W8;Q2Y0W8-3	.;S4A8_HUMAN;.	C	795;768;768;715	ENSP00000351483:R795C;ENSP00000405812:R768C	ENSP00000315789:R768C	R	+	1	0	SLC4A8	50168765	0.996000	0.38824	0.997000	0.53966	0.844000	0.47949	1.978000	0.40598	0.998000	0.38996	0.460000	0.39030	CGC		0.378	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		86	158	0	0	0	1	0	86	158				
ATP10D	57205	broad.mit.edu	37	4	47514779	47514779	+	Silent	SNP	T	T	C	rs202206103		TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr4:47514779T>C	ENST00000273859.3	+	2	491	c.222T>C	c.(220-222)aaT>aaC	p.N74N	ATP10D_ENST00000504445.1_Silent_p.N74N	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	74					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ATGTGAACAATCGAATACGAA	0.403																																						ENST00000273859.3																			0				NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.(220-222)aaT>aaC		ATPase, class V, type 10D							86.0	87.0	87.0					4																	47514779		2203	4300	6503	SO:0001819	synonymous_variant	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47514779T>C	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.222T>C	4.37:g.47514779T>C						ATP10D_ENST00000504445.1_Silent_p.N74N	p.N74N	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN			2	491	+			74					A2RRC8|D6REN2|Q8NC70|Q96SR3	Silent	SNP	ENST00000273859.3	37	c.222T>C	CCDS3476.1																																																																																				0.403	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		72	84	0	0	0	1	0	72	84				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	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			48	90	0	0	0	1	0	48	90				
CRB2	286204	broad.mit.edu	37	9	126133603	126133603	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr9:126133603C>G	ENST00000373631.3	+	8	2183	c.2182C>G	c.(2182-2184)Ctg>Gtg	p.L728V	CRB2_ENST00000373629.2_Missense_Mutation_p.L396V|CRB2_ENST00000359999.3_Missense_Mutation_p.L728V	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	728	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GCTCCGTCACCTGGTGATGCT	0.667																																						ENST00000373631.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						c.(2182-2184)Ctg>Gtg		crumbs homolog 2 (Drosophila)							95.0	98.0	97.0					9																	126133603		2203	4300	6503	SO:0001583	missense	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126133603C>G	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.2182C>G	9.37:g.126133603C>G	ENSP00000362734:p.Leu728Val					CRB2_ENST00000359999.3_Missense_Mutation_p.L728V|CRB2_ENST00000373629.2_Missense_Mutation_p.L396V	p.L728V	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN			8	2183	+			728			Laminin G-like 2.		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	c.2182C>G	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	.	13.58	2.280072	0.40294	.	.	ENSG00000148204	ENST00000359999;ENST00000373631;ENST00000373629	T;T;T	0.79141	-1.24;-1.24;-1.24	4.92	2.05	0.26809	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);	0.000000	0.36066	N	0.002812	D	0.83959	0.5367	M	0.84326	2.69	0.47547	D	0.999454	D;D	0.69078	0.996;0.997	P;D	0.68353	0.876;0.957	T	0.79612	-0.1731	10	0.15952	T	0.53	.	7.2826	0.26320	0.0:0.4564:0.0:0.5436	.	728;728	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	V	728;728;396	ENSP00000353092:L728V;ENSP00000362734:L728V;ENSP00000362732:L396V	ENSP00000353092:L728V	L	+	1	2	CRB2	125173424	0.795000	0.28851	0.880000	0.34516	0.447000	0.32167	0.352000	0.20113	0.131000	0.18576	-0.251000	0.11542	CTG		0.667	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		14	196	0	0	0	1	0	14	196				
MEFV	4210	broad.mit.edu	37	16	3293588	3293588	+	Silent	SNP	C	C	T			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr16:3293588C>T	ENST00000219596.1	-	10	1938	c.1899G>A	c.(1897-1899)ccG>ccA	p.P633P	MEFV_ENST00000536379.1_Silent_p.P422P|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000339854.4_Silent_p.P453P	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	633	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						CAAATCTTTGCGGGCCATCAG	0.517																																						ENST00000219596.1																			0				NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(1897-1899)ccG>ccA		Mediterranean fever	Colchicine(DB01394)						158.0	170.0	166.0					16																	3293588		2197	4300	6497	SO:0001819	synonymous_variant	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3293588C>T	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1899G>A	16.37:g.3293588C>T						MEFV_ENST00000536379.1_Silent_p.P422P|MEFV_ENST00000339854.4_Silent_p.P453P|MEFV_ENST00000541159.1_3'UTR	p.P633P	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			10	1938	-			633			B30.2/SPRY.		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	c.1899G>A	CCDS10498.1																																																																																				0.517	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		6	501	0	0	0	1	0	6	501				
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318																																						ENST00000402038.3																			1	Substitution - Missense(1)	p.A584T(1)	kidney(1)	endometrium(5)|kidney(2)|lung(1)|ovary(2)	10						c.(295-297)Gca>Aca		poly (ADP-ribose) glycohydrolase							235.0	183.0	198.0					10																	51093329		692	1589	2281	SO:0001583	missense	8505				carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	g.chr10:51093329C>T	AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.295G>A	10.37:g.51093329C>T	ENSP00000384408:p.Ala99Thr						p.A99T	NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN		Epithelial(53;0.213)	4	294	-			584					A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Missense_Mutation	SNP	ENST00000402038.3	37	c.295G>A		.	.	.	.	.	.	.	.	.	.	C	12.89	2.073258	0.36566	.	.	ENSG00000227345	ENST00000402038	.	.	.	3.88	2.96	0.34315	.	.	.	.	.	T	0.46678	0.1405	M	0.61703	1.905	.	.	.	B;B;P;P;P;B	0.41947	0.002;0.003;0.574;0.766;0.766;0.006	B;B;B;B;B;B	0.38616	0.006;0.006;0.191;0.179;0.277;0.01	T	0.56631	-0.7947	7	0.18710	T	0.47	-4.0352	11.9338	0.52862	0.0:0.9123:0.0:0.0877	.	502;584;135;99;124;584	Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4	.;PARG_HUMAN;.;.;.;.	T	99	.	ENSP00000384408:A99T	A	-	1	0	PARG	50763335	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.907000	0.39897	0.952000	0.37798	0.407000	0.27541	GCA		0.318	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631		5	133	0	0	0	1	0	5	133				
TPTE2	93492	broad.mit.edu	37	13	20056686	20056686	+	Splice_Site	SNP	T	T	C	rs201542496		TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr13:20056686T>C	ENST00000400230.2	-	4	165	c.121A>G	c.(121-123)Atg>Gtg	p.M41V	TPTE2_ENST00000382975.4_Splice_Site_p.M41V|TPTE2_ENST00000457266.2_Splice_Site_p.M41V|TPTE2_ENST00000382977.4_Splice_Site_p.M41V|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382978.1_Splice_Site_p.M41V|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000400103.2_Splice_Site_p.M41V			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	41					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CGTTCTAACATACTTTAGCCA	0.313																																						ENST00000400230.2																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.e4-1		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							47.0	46.0	47.0					13																	20056686		2202	4298	6500	SO:0001630	splice_region_variant	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20056686T>C	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.120-1A>G	13.37:g.20056686T>C						TPTE2_ENST00000400103.2_Splice_Site_p.M41_splice|TPTE2_ENST00000382978.1_Splice_Site_p.M41_splice|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000457266.2_Splice_Site_p.M41_splice|TPTE2_ENST00000382975.4_Splice_Site_p.M41_splice|TPTE2_ENST00000382977.4_Splice_Site_p.M41_splice|TPTE2_ENST00000390680.2_Intron	p.M41_splice			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	4	165	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	41					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Splice_Site	SNP	ENST00000400230.2	37	c.119_splice	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.805163	0.00075	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548	D;D;D;D;D;D	0.94376	-3.41;-3.33;-3.28;-3.28;-3.41;-3.33	2.06	0.838	0.18902	.	0.589765	0.15086	U	0.281346	D	0.83399	0.5246	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.68424	-0.5412	9	.	.	.	0.2742	3.9369	0.09310	0.0:0.1886:0.0:0.8114	.	41;41	A8MX64;Q6XPS3	.;TPTE2_HUMAN	V	41	ENSP00000372438:M41V;ENSP00000382974:M41V;ENSP00000383089:M41V;ENSP00000372437:M41V;ENSP00000372435:M41V;ENSP00000442218:M41V	.	M	-	1	0	TPTE2	18954686	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.105000	0.10907	0.235000	0.21160	0.383000	0.25322	ATG		0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254	Missense_Mutation	4	125	0	0	0	1	0	4	125				
RYR2	6262	broad.mit.edu	37	1	237604643	237604643	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr1:237604643A>G	ENST00000366574.2	+	13	1347	c.1030A>G	c.(1030-1032)Aaa>Gaa	p.K344E	RYR2_ENST00000542537.1_Missense_Mutation_p.K328E|RYR2_ENST00000360064.6_Missense_Mutation_p.K342E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	344					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGGGGTGAGAAAAGAAGTAGA	0.378																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(1030-1032)Aaa>Gaa		ryanodine receptor 2 (cardiac)							138.0	133.0	135.0					1																	237604643		1848	4102	5950	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237604643A>G	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1030A>G	1.37:g.237604643A>G	ENSP00000355533:p.Lys344Glu					RYR2_ENST00000360064.6_Missense_Mutation_p.K342E|RYR2_ENST00000542537.1_Missense_Mutation_p.K328E	p.K344E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		13	1347	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	344					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.1030A>G	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	15.98	2.992946	0.54041	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.87887	-2.31;-2.31;-2.31	5.39	5.39	0.77823	MIR motif (1);MIR (2);	0.000000	0.64402	D	0.000002	T	0.81616	0.4860	L	0.38175	1.15	0.80722	D	1	B	0.30326	0.276	B	0.23574	0.047	T	0.80407	-0.1395	10	0.48119	T	0.1	.	15.6974	0.77512	1.0:0.0:0.0:0.0	.	344	Q92736	RYR2_HUMAN	E	344;342;328	ENSP00000355533:K344E;ENSP00000353174:K342E;ENSP00000443798:K328E	ENSP00000353174:K342E	K	+	1	0	RYR2	235671266	1.000000	0.71417	0.943000	0.38184	0.691000	0.40173	4.171000	0.58236	2.163000	0.67991	0.533000	0.62120	AAA		0.378	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		69	94	0	0	0	1	0	69	94				
CUBN	8029	broad.mit.edu	37	10	17110716	17110716	+	Silent	SNP	T	T	C			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr10:17110716T>C	ENST00000377833.4	-	20	2744	c.2679A>G	c.(2677-2679)acA>acG	p.T893T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	893	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAGGTATGTCTGTACCGCAAT	0.318																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(2677-2679)acA>acG		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						111.0	118.0	116.0					10																	17110716		2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17110716T>C	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.2679A>G	10.37:g.17110716T>C							p.T893T	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			20	2744	-			893			CUB 4.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.2679A>G	CCDS7113.1																																																																																				0.318	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		89	280	0	0	0	1	0	89	280				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		7	87	0	0	0	1	0	7	87				
MACROD1	28992	broad.mit.edu	37	11	63919827	63919827	+	Missense_Mutation	SNP	G	G	T			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr11:63919827G>T	ENST00000255681.6	-	2	403	c.337C>A	c.(337-339)Cat>Aat	p.H113N	MACROD1_ENST00000538595.1_5'UTR	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1	113					cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						CAGAAGTAATGTTCCTCCCGC	0.617																																						ENST00000255681.6																			0				breast(1)|large_intestine(3)|lung(6)|skin(1)	11						c.(337-339)Cat>Aat		MACRO domain containing 1							140.0	131.0	134.0					11																	63919827		2201	4297	6498	SO:0001583	missense	28992							g.chr11:63919827G>T	AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.337C>A	11.37:g.63919827G>T	ENSP00000255681:p.His113Asn					MACROD1_ENST00000538595.1_5'UTR	p.H113N	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN			2	403	-			113					Q9UH96	Missense_Mutation	SNP	ENST00000255681.6	37	c.337C>A	CCDS8056.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971190	0.74246	.	.	ENSG00000133315	ENST00000255681	T	0.18016	2.24	4.38	4.38	0.52667	.	0.070467	0.56097	D	0.000035	T	0.20088	0.0483	L	0.52573	1.65	0.34753	D	0.731978	P	0.45240	0.854	B	0.43018	0.405	T	0.30090	-0.9990	10	0.45353	T	0.12	-17.4388	14.2415	0.65959	0.0:0.0:1.0:0.0	.	113	Q9BQ69	MACD1_HUMAN	N	113	ENSP00000255681:H113N	ENSP00000255681:H113N	H	-	1	0	MACROD1	63676403	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.192000	0.65115	2.173000	0.68751	0.462000	0.41574	CAT		0.617	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1	NM_014067		65	152	1	0	1.05635e-38	1	1.13761e-38	65	152				
SMC2	10592	broad.mit.edu	37	9	106877086	106877086	+	Silent	SNP	C	C	A			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr9:106877086C>A	ENST00000286398.7	+	13	1935	c.1647C>A	c.(1645-1647)ctC>ctA	p.L549L	SMC2_ENST00000374787.3_Silent_p.L549L|SMC2_ENST00000374793.3_Silent_p.L549L|SMC2_ENST00000303219.8_Silent_p.L549L	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	549	Flexible hinge.				kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GAGAACGACTCTACAATGTTG	0.333																																						ENST00000286398.7																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						c.(1645-1647)ctC>ctA		structural maintenance of chromosomes 2							87.0	83.0	85.0					9																	106877086		2203	4300	6503	SO:0001819	synonymous_variant	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106877086C>A	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.1647C>A	9.37:g.106877086C>A						SMC2_ENST00000374787.3_Silent_p.L549L|SMC2_ENST00000303219.8_Silent_p.L549L|SMC2_ENST00000374793.3_Silent_p.L549L	p.L549L	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN			13	1935	+			549			Flexible hinge.		Q6IEE0|Q9P1P2	Silent	SNP	ENST00000286398.7	37	c.1647C>A	CCDS35086.1																																																																																				0.333	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			4	117	1	0	0.150653	1	0.152837	4	117				
PROKR2	128674	broad.mit.edu	37	20	5282783	5282783	+	Missense_Mutation	SNP	C	C	T	rs576243101		TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr20:5282783C>T	ENST00000217270.3	-	2	1057	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H	PROKR2_ENST00000546004.1_Missense_Mutation_p.R353H	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	353					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.R353H(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CTGGGAGGGACGCCAGTGCAG	0.557										HNSCC(71;0.22)			C|||	1	0.000199681	0.0008	0.0	5008	,	,		24072	0.0		0.0	False		,,,				2504	0.0					ENST00000546004.1																			1	Substitution - Missense(1)	p.R353H(1)	ovary(1)	autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						c.(1057-1059)cGt>cAt		prokineticin receptor 2							206.0	166.0	179.0					20																	5282783		2203	4300	6503	SO:0001583	missense	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5282783C>T	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.1058G>A	20.37:g.5282783C>T	ENSP00000217270:p.Arg353His	HNSCC(71;0.22)				PROKR2_ENST00000217270.3_Missense_Mutation_p.R353H	p.R353H			Q8NFJ6	PKR2_HUMAN			3	1304	-			353					A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	37	c.1058G>A	CCDS13089.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.999680	0.54147	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.38401	1.14;1.14	5.05	4.1	0.47936	.	0.060269	0.64402	D	0.000009	T	0.34048	0.0884	M	0.62723	1.935	0.49213	D	0.999764	P	0.49447	0.924	B	0.40038	0.317	T	0.23084	-1.0198	10	0.44086	T	0.13	.	11.623	0.51130	0.0:0.9101:0.0:0.0899	.	353	Q8NFJ6	PKR2_HUMAN	H	353	ENSP00000440790:R353H;ENSP00000217270:R353H	ENSP00000217270:R353H	R	-	2	0	PROKR2	5230783	0.141000	0.22595	0.989000	0.46669	0.516000	0.34256	0.683000	0.25349	2.370000	0.80446	0.655000	0.94253	CGT		0.557	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		40	107	0	0	0	1	0	40	107				
TSSC2	650368	broad.mit.edu	37	11	3427885	3427885	+	RNA	SNP	A	A	G			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr11:3427885A>G	ENST00000529482.1	+	0	1002									tumor suppressing subtransferable candidate 2 pseudogene																		AGCTTCACAGATCCACCGCTG	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427885A>G			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427885A>G														0	1002	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			3	38	0	0	0	1	0	3	38				
RTP4	64108	broad.mit.edu	37	3	187088818	187088818	+	Missense_Mutation	SNP	A	A	T			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr3:187088818A>T	ENST00000259030.2	+	2	508	c.398A>T	c.(397-399)aAg>aTg	p.K133M		NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	receptor (chemosensory) transporter protein 4	133					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		GGCACGAGGAAGTCTCCAGAA	0.488																																						ENST00000259030.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11						c.(397-399)aAg>aTg		receptor (chemosensory) transporter protein 4							60.0	59.0	59.0					3																	187088818		2203	4300	6503	SO:0001583	missense	64108				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding	g.chr3:187088818A>T	BC013161	CCDS33910.1	3q27.3	2014-02-20	2006-11-21		ENSG00000136514	ENSG00000136514		"""Receptor transporter proteins"""	23992	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 4"""	609350	"""receptor transporter protein 4"""			16271481, 15550249, 16720576	Standard	NM_022147		Approved	IFRG28, Z3CXXC4	uc003frm.3	Q96DX8	OTTHUMG00000156459	ENST00000259030.2:c.398A>T	3.37:g.187088818A>T	ENSP00000259030:p.Lys133Met						p.K133M	NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	2	508	+	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		133					Q9H4F3	Missense_Mutation	SNP	ENST00000259030.2	37	c.398A>T	CCDS33910.1	.	.	.	.	.	.	.	.	.	.	A	14.04	2.416145	0.42918	.	.	ENSG00000136514	ENST00000259030	T	0.24908	1.83	4.09	-0.272	0.12919	.	1.318140	0.04466	N	0.375247	T	0.42268	0.1195	M	0.64997	1.995	0.09310	N	1	D	0.62365	0.991	D	0.65987	0.94	T	0.19128	-1.0315	10	0.46703	T	0.11	-10.572	3.7017	0.08384	0.4928:0.2913:0.2158:0.0	.	133	Q96DX8	RTP4_HUMAN	M	133	ENSP00000259030:K133M	ENSP00000259030:K133M	K	+	2	0	RTP4	188571512	0.000000	0.05858	0.016000	0.15963	0.005000	0.04900	0.370000	0.20433	-0.022000	0.13986	0.533000	0.62120	AAG		0.488	RTP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344260.1	NM_022147		29	35	0	0	0	1	0	29	35				
TRIM14	9830	broad.mit.edu	37	9	100849858	100849858	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr9:100849858G>A	ENST00000341469.2	-	6	1232	c.1223C>T	c.(1222-1224)aCg>aTg	p.T408M	TRIM14_ENST00000538344.1_Missense_Mutation_p.T189M|TRIM14_ENST00000342043.3_Missense_Mutation_p.T408M|TRIM14_ENST00000375098.3_Missense_Mutation_p.T408M|TRIM14_ENST00000478530.1_5'UTR	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	408	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|intracellular (GO:0005622)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				CATGCCGCCCGTCACGTCGTA	0.726																																					Colon(14;460 597 13826 51781)	ENST00000341469.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9						c.(1222-1224)aCg>aTg		tripartite motif containing 14							8.0	10.0	9.0					9																	100849858		2181	4257	6438	SO:0001583	missense	9830					cytoplasm|intracellular	zinc ion binding	g.chr9:100849858G>A	AF220130	CCDS6734.1	9q31.1	2011-04-20	2011-01-25		ENSG00000106785	ENSG00000106785		"""Tripartite motif containing / Tripartite motif containing"""	16283	protein-coding gene	gene with protein product		606556	"""tripartite motif-containing 14"""			11331580	Standard	XM_005252320		Approved	KIAA0129	uc004ayd.2	Q14142	OTTHUMG00000020339	ENST00000341469.2:c.1223C>T	9.37:g.100849858G>A	ENSP00000344208:p.Thr408Met					TRIM14_ENST00000478530.1_5'UTR|TRIM14_ENST00000538344.1_Missense_Mutation_p.T189M|TRIM14_ENST00000375098.3_Missense_Mutation_p.T408M|TRIM14_ENST00000342043.3_Missense_Mutation_p.T408M	p.T408M	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN			6	1232	-		Acute lymphoblastic leukemia(62;0.0559)	408	RLRPRDDLDRLGVFLDYEAGVLAFYDVTGGMSHLHTFRATF QEPLYPALRLWEGAISIPRLP -> ACGPATTSTGSASSWT TRPASSPSTT (in Ref. 2; BAA09478).		B30.2/SPRY.		A8K9W0|E7EQC4|F8W956|Q548W9|Q5TBQ8|Q6ZWL7|Q9BRD8|Q9C020	Missense_Mutation	SNP	ENST00000341469.2	37	c.1223C>T	CCDS6734.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.577190	0.45902	.	.	ENSG00000106785	ENST00000375098;ENST00000341469;ENST00000342043;ENST00000538344	T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41	4.97	4.07	0.47477	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.173828	0.38897	N	0.001526	T	0.79673	0.4486	M	0.80422	2.495	0.09310	N	1	D;D;D	0.89917	0.998;0.998;1.0	P;P;D	0.63033	0.88;0.88;0.91	T	0.72871	-0.4161	10	0.87932	D	0	.	12.4636	0.55745	0.0:0.0:0.831:0.169	.	189;186;408	B7ZAZ9;B4E0G2;Q14142	.;.;TRI14_HUMAN	M	408;408;408;189	ENSP00000364239:T408M;ENSP00000344208:T408M;ENSP00000343990:T408M;ENSP00000445355:T189M	ENSP00000344208:T408M	T	-	2	0	TRIM14	99889679	0.000000	0.05858	0.390000	0.26220	0.479000	0.33129	0.449000	0.21744	1.063000	0.40649	0.462000	0.41574	ACG		0.726	TRIM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053350.1	NM_014788		3	26	0	0	0	1	0	3	26				
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G	rs187344612		TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1				BMS1 pseudogene 20																		GTCTTCATGCAAACTTGGTAT	0.398																																						ENST00000426066.1																			0																																																			0							g.chr22:22664606A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664606A>G								NR_027293.1						0	787	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.398	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	66	0	0	0	1	0	3	66				
SPATA31A6	389730	broad.mit.edu	37	9	43627014	43627014	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr9:43627014A>G	ENST00000332857.6	-	4	1701	c.1673T>C	c.(1672-1674)gTc>gCc	p.V558A	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	558					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AGATTTTTGGACCCTAGAGGG	0.473																																						ENST00000332857.6																			0											c.(1672-1674)gTc>gCc		SPATA31 subfamily A, member 6							2.0	2.0	2.0					9																	43627014		465	1298	1763	SO:0001583	missense	389730							g.chr9:43627014A>G		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1673T>C	9.37:g.43627014A>G	ENSP00000329825:p.Val558Ala						p.V558A	NM_001145196.1	NP_001138668.1					4	1701	-									Missense_Mutation	SNP	ENST00000332857.6	37	c.1673T>C	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	A	6.642	0.486943	0.12641	.	.	ENSG00000185775	ENST00000332857	T	0.12147	2.71	2.42	-1.57	0.08506	.	1.264370	0.05598	N	0.575891	T	0.10680	0.0261	L	0.36672	1.1	0.09310	N	1	B	0.21309	0.054	B	0.26614	0.071	T	0.40905	-0.9538	10	0.48119	T	0.1	-0.0145	2.1373	0.03765	0.4822:0.0:0.2808:0.237	.	558	Q5VVP1	F75A6_HUMAN	A	558	ENSP00000329825:V558A	ENSP00000329825:V558A	V	-	2	0	FAM75A6	43567010	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.014000	0.12656	-0.341000	0.08376	0.315000	0.21342	GTC		0.473	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		16	389	0	0	0	1	0	16	389				
MVB12A	93343	broad.mit.edu	37	19	17531345	17531345	+	Splice_Site	SNP	A	A	G			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr19:17531345A>G	ENST00000317040.7	+	3	1244		c.e3-1		MVB12A_ENST00000543795.1_Splice_Site|CTD-2521M24.6_ENST00000593957.1_RNA|MVB12A_ENST00000528515.1_Splice_Site|MVB12A_ENST00000529939.1_Splice_Site|MVB12A_ENST00000392702.2_Splice_Site|CTD-2521M24.8_ENST00000597028.1_RNA			Q96EY5	MB12A_HUMAN	multivesicular body subunit 12A						protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|vesicle (GO:0031982)	lipid binding (GO:0008289)|ubiquitin binding (GO:0043130)										TTCCACCCCCAGAACCCGCAG	0.672																																						ENST00000317040.7																			0											c.e3-1		multivesicular body subunit 12A							56.0	57.0	57.0					19																	17531345		2203	4300	6503	SO:0001630	splice_region_variant	93343							g.chr19:17531345A>G	BC011840	CCDS12359.1	19p13.11	2013-10-11	2012-12-03	2012-12-03	ENSG00000141971	ENSG00000141971			25153	protein-coding gene	gene with protein product			"""family with sequence similarity 125, member A"""	FAM125A		18005716, 20654576, 22232651	Standard	NM_138401		Approved	FLJ32495	uc002ngo.1	Q96EY5	OTTHUMG00000166252	ENST00000317040.7:c.190-1A>G	19.37:g.17531345A>G						CTD-2521M24.6_ENST00000593957.1_RNA|MVB12A_ENST00000528515.1_Splice_Site|MVB12A_ENST00000392702.2_Splice_Site|MVB12A_ENST00000543795.1_Splice_Site|MVB12A_ENST00000529939.1_Splice_Site								3	1244	+								Q96I18	Splice_Site	SNP	ENST00000317040.7	37		CCDS12359.1	.	.	.	.	.	.	.	.	.	.	A	8.576	0.881116	0.17467	.	.	ENSG00000141971	ENST00000317040;ENST00000528659;ENST00000392702;ENST00000529939;ENST00000528515;ENST00000543795	.	.	.	3.15	3.15	0.36227	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.3617	0.32363	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM125A	17392345	0.998000	0.40836	0.933000	0.37362	0.088000	0.18126	4.610000	0.61155	1.409000	0.46915	0.397000	0.26171	.		0.672	MVB12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388723.2	NM_138401	Intron	20	37	0	0	0	1	0	20	37				
PCDH7	5099	broad.mit.edu	37	4	31144318	31144318	+	Silent	SNP	G	G	T			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr4:31144318G>T	ENST00000543491.1	+	3	3615	c.3615G>T	c.(3613-3615)ctG>ctT	p.L1205L				O60245	PCDH7_HUMAN	protocadherin 7	0					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GAAACCTCCTGAACAAAAAGT	0.493																																						ENST00000543491.1																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(3613-3615)ctG>ctT		protocadherin 7							107.0	106.0	106.0					4																	31144318		1917	4130	6047	SO:0001819	synonymous_variant	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:31144318G>T	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000543491.1:c.3615G>T	4.37:g.31144318G>T							p.L1205L			O60245	PCDH7_HUMAN			3	3615	+			0					O60246|O60247|Q4W5C4	Silent	SNP	ENST00000543491.1	37	c.3615G>T	CCDS54753.1	.	.	.	.	.	.	.	.	.	.	G	4.583	0.108380	0.08780	.	.	ENSG00000169851	ENST00000511884	.	.	.	5.87	3.01	0.34805	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.2263	0.37410	0.0:0.2098:0.5418:0.2485	.	.	.	.	X	887	.	.	E	+	1	0	PCDH7	30753416	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	0.463000	0.21972	0.892000	0.36259	-0.211000	0.12701	GAA		0.493	PCDH7-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032457, NM_002589		10	200	1	0	3.86212e-05	1	3.97571e-05	10	200				
ANKRD34B	340120	broad.mit.edu	37	5	79855467	79855467	+	Silent	SNP	A	A	G			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr5:79855467A>G	ENST00000338682.3	-	5	1044	c.372T>C	c.(370-372)taT>taC	p.Y124Y		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	124						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		AATTTATAGCATAAACAAGAG	0.443																																						ENST00000338682.3																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28						c.(370-372)taT>taC		ankyrin repeat domain 34B							125.0	128.0	127.0					5																	79855467		2203	4300	6503	SO:0001819	synonymous_variant	340120					cytoplasm|nucleus		g.chr5:79855467A>G		CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"""Ankyrin repeat domain containing"""	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.372T>C	5.37:g.79855467A>G							p.Y124Y	NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)	5	1044	-		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)	124					B2RPH1|Q68D79	Silent	SNP	ENST00000338682.3	37	c.372T>C	CCDS34194.1																																																																																				0.443	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369475.1	NM_001004441		5	259	0	0	0	1	0	5	259				
FAM26E	254228	broad.mit.edu	37	6	116836827	116836827	+	Missense_Mutation	SNP	G	G	A	rs571775020		TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr6:116836827G>A	ENST00000368599.3	+	2	656	c.605G>A	c.(604-606)cGc>cAc	p.R202H	TRAPPC3L_ENST00000368602.3_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	202					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		TGTTATGCTCGCTGCCGATCT	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		21409	0.0		0.0	False		,,,				2504	0.001					ENST00000368599.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7						c.(604-606)cGc>cAc		family with sequence similarity 26, member E							154.0	155.0	155.0					6																	116836827		2203	4300	6503	SO:0001583	missense	254228					integral to membrane		g.chr6:116836827G>A	BC032556	CCDS5108.1	6q22.31	2008-02-05	2007-03-19	2007-03-19	ENSG00000178033	ENSG00000178033			21568	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 188"""	C6orf188			Standard	NM_153711		Approved	dJ493F7.3, MGC45451	uc003pwy.3	Q8N5C1	OTTHUMG00000015442	ENST00000368599.3:c.605G>A	6.37:g.116836827G>A	ENSP00000357588:p.Arg202His					TRAPPC3L_ENST00000368602.3_Intron	p.R202H	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)	2	656	+		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)	202					B2RDJ9|B3KSR3	Missense_Mutation	SNP	ENST00000368599.3	37	c.605G>A	CCDS5108.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.158090	0.57368	.	.	ENSG00000178033	ENST00000368599	T	0.19250	2.16	6.03	6.03	0.97812	.	0.106321	0.64402	D	0.000002	T	0.23289	0.0563	L	0.43152	1.355	0.45464	D	0.99843	D	0.69078	0.997	P	0.58873	0.847	T	0.00436	-1.1740	10	0.46703	T	0.11	-4.565	12.8091	0.57629	0.0738:0.0:0.9262:0.0	.	202	Q8N5C1	FA26E_HUMAN	H	202	ENSP00000357588:R202H	ENSP00000357588:R202H	R	+	2	0	FAM26E	116943520	1.000000	0.71417	1.000000	0.80357	0.161000	0.22273	6.809000	0.75211	2.854000	0.98071	0.655000	0.94253	CGC		0.413	FAM26E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041956.1	NM_153711		6	277	0	0	0	1	0	6	277				
USP7	7874	broad.mit.edu	37	16	8990887	8990887	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr16:8990887C>T	ENST00000344836.4	-	26	2986	c.2788G>A	c.(2788-2790)Gag>Aag	p.E930K	USP7_ENST00000381886.4_Missense_Mutation_p.E914K|USP7_ENST00000535863.1_Missense_Mutation_p.E831K	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	930					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TCCCCAAGCTCCACGGCCTTT	0.438																																						ENST00000344836.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						c.(2788-2790)Gag>Aag		ubiquitin specific peptidase 7 (herpes virus-associated)							289.0	259.0	269.0					16																	8990887		2197	4300	6497	SO:0001583	missense	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:8990887C>T	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.2788G>A	16.37:g.8990887C>T	ENSP00000343535:p.Glu930Lys					USP7_ENST00000381886.4_Missense_Mutation_p.E914K|USP7_ENST00000535863.1_Missense_Mutation_p.E831K	p.E930K	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN			26	2986	-			930					A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	c.2788G>A	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884120	0.51908	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863	T;T	0.07216	3.21;3.22	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.06508	0.0167	N	0.12961	0.28	0.80722	D	1	B;B	0.22346	0.068;0.068	B;B	0.20767	0.031;0.031	T	0.40270	-0.9572	10	0.10377	T	0.69	.	20.1615	0.98135	0.0:1.0:0.0:0.0	.	930;914	Q93009;B7Z815	UBP7_HUMAN;.	K	930;938;831	ENSP00000343535:E930K;ENSP00000443646:E831K	ENSP00000343535:E930K	E	-	1	0	USP7	8898388	1.000000	0.71417	0.968000	0.41197	0.988000	0.76386	5.963000	0.70372	2.835000	0.97688	0.650000	0.86243	GAG		0.438	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			23	448	0	0	0	1	0	23	448				
HAPLN4	404037	broad.mit.edu	37	19	19371787	19371787	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr19:19371787G>A	ENST00000291481.7	-	3	382	c.319C>T	c.(319-321)Cgg>Tgg	p.R107W	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	107	Ig-like C2-type.				cell adhesion (GO:0007155)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)		Hyaluronan(DB08818)	CCGAATGCCCGGTGCTGGGGG	0.701																																						ENST00000291481.7																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16						c.(319-321)Cgg>Tgg		hyaluronan and proteoglycan link protein 4							44.0	48.0	47.0					19																	19371787		2203	4299	6502	SO:0001583	missense	404037				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr19:19371787G>A	AB107883	CCDS12398.1	19p13.1	2013-01-11						"""Immunoglobulin superfamily / V-set domain containing"""	31357	protein-coding gene	gene with protein product	"""brain link protein 2"""					12663660	Standard	NM_023002		Approved	BRAL2, KIAA1926	uc002nmb.3	Q86UW8		ENST00000291481.7:c.319C>T	19.37:g.19371787G>A	ENSP00000291481:p.Arg107Trp					AC138430.4_ENST00000586064.2_RNA	p.R107W	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	Epithelial(12;0.00575)		3	382	-			107			Ig-like C2-type.		A5PKW5|Q96PW2	Missense_Mutation	SNP	ENST00000291481.7	37	c.319C>T	CCDS12398.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124897	0.77436	.	.	ENSG00000187664	ENST00000291481	T	0.66815	-0.23	4.52	0.858	0.19030	Immunoglobulin V-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.072477	0.50627	D	0.000118	T	0.80276	0.4593	M	0.83118	2.625	0.34359	D	0.690704	D	0.89917	1.0	D	0.91635	0.999	D	0.85598	0.1250	10	0.87932	D	0	-33.3645	11.6632	0.51358	0.0:0.0:0.4084:0.5916	.	107	Q86UW8	HPLN4_HUMAN	W	107	ENSP00000291481:R107W	ENSP00000291481:R107W	R	-	1	2	HAPLN4	19232787	0.001000	0.12720	0.995000	0.50966	0.982000	0.71751	-0.036000	0.12185	0.502000	0.28037	0.561000	0.74099	CGG		0.701	HAPLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460117.2	NM_023002		4	136	0	0	0	1	0	4	136				
BTBD16	118663	broad.mit.edu	37	10	124097550	124097550	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr10:124097550G>A	ENST00000260723.4	+	16	1722	c.1471G>A	c.(1471-1473)Gtg>Atg	p.V491M	BTBD16_ENST00000368994.2_Missense_Mutation_p.V492M	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	491										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				AATCCAAACTGTGGGCATCCC	0.408																																						ENST00000368994.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15						c.(1474-1476)Gtg>Atg		BTB (POZ) domain containing 16							150.0	143.0	145.0					10																	124097550		2203	4300	6503	SO:0001583	missense	118663							g.chr10:124097550G>A	AK058088	CCDS31301.1	10q26.13	2013-01-24	2006-07-04	2006-07-04	ENSG00000138152	ENSG00000138152		"""BTB/POZ domain containing"""	26340	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 87"""	C10orf87			Standard	NM_144587		Approved	FLJ25359, Em:AC061711.1	uc001lgc.1	Q32M84	OTTHUMG00000019182	ENST00000260723.4:c.1471G>A	10.37:g.124097550G>A	ENSP00000260723:p.Val491Met					BTBD16_ENST00000260723.4_Missense_Mutation_p.V491M	p.V492M			Q32M84	BTBDG_HUMAN			16	1725	+		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)	491					A6NM63|Q4VXL1|Q96LN0	Missense_Mutation	SNP	ENST00000260723.4	37	c.1474G>A	CCDS31301.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399822	0.62177	.	.	ENSG00000138152	ENST00000260723;ENST00000368994	T;T	0.22134	1.97;1.97	5.08	4.16	0.48862	.	0.161988	0.29133	N	0.013052	T	0.29491	0.0735	L	0.32530	0.975	0.28659	N	0.906226	D;D	0.67145	0.996;0.996	D;D	0.66497	0.944;0.944	T	0.02698	-1.1122	10	0.59425	D	0.04	-21.7662	8.7947	0.34872	0.1004:0.0:0.8996:0.0	.	492;491	Q32M84-2;Q32M84	.;BTBDG_HUMAN	M	491;492	ENSP00000260723:V491M;ENSP00000357990:V492M	ENSP00000260723:V491M	V	+	1	0	BTBD16	124087540	0.032000	0.19561	1.000000	0.80357	0.994000	0.84299	0.176000	0.16782	2.532000	0.85374	0.650000	0.86243	GTG		0.408	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050780.3	NM_144587		6	117	0	0	0	1	0	6	117				
PDE8B	8622	broad.mit.edu	37	5	76715664	76715664	+	Silent	SNP	A	A	G			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr5:76715664A>G	ENST00000264917.5	+	19	2247	c.2202A>G	c.(2200-2202)gaA>gaG	p.E734E	PDE8B_ENST00000342343.4_Silent_p.E714E|PDE8B_ENST00000505283.1_Silent_p.E199E|PDE8B_ENST00000333194.4_Silent_p.E679E|PDE8B_ENST00000340978.3_Silent_p.E687E|PDE8B_ENST00000346042.3_Silent_p.E637E	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	734	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	AACACTTTGAACATGTGAATA	0.423																																						ENST00000264917.5																		GMDS/PDE8B(2)	0				NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40						c.(2200-2202)gaA>gaG		phosphodiesterase 8B							124.0	106.0	112.0					5																	76715664		2203	4300	6503	SO:0001819	synonymous_variant	8622				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr5:76715664A>G	AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.2202A>G	5.37:g.76715664A>G						PDE8B_ENST00000505283.1_Silent_p.E199E|PDE8B_ENST00000346042.3_Silent_p.E637E|PDE8B_ENST00000333194.4_Silent_p.E679E|PDE8B_ENST00000340978.3_Silent_p.E687E|PDE8B_ENST00000342343.4_Silent_p.E714E	p.E734E	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	19	2247	+		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)	734			Catalytic (By similarity).		Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Silent	SNP	ENST00000264917.5	37	c.2202A>G	CCDS4037.1																																																																																				0.423	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		48	116	0	0	0	1	0	48	116				
SNHG14	104472715	broad.mit.edu	37	15	25477392	25477392	+	RNA	SNP	A	A	G			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr15:25477392A>G	ENST00000453082.2	+	0	1614				SNORD115-34_ENST00000362441.1_RNA|SNORD115-33_ENST00000363723.1_RNA|SNORD115-35_ENST00000365122.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		ATGGCCCTGGACCAGTGTCTG	0.587																																						ENST00000453082.2																			0																																																			0							g.chr15:25477392A>G			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25477392A>G								NR_003343.1						0	1614	+									RNA	SNP	ENST00000453082.2	37																																																																																						0.587	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	processed_transcript	OTTHUMT00000126730.2			3	64	0	0	0	1	0	3	64				
ARID1A	8289	broad.mit.edu	37	1	27100175	27100176	+	Frame_Shift_Ins	INS	-	-	C	rs377622327		TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr1:27100175_27100176insC	ENST00000324856.7	+	16	4342_4343	c.3971_3972insC	c.(3970-3975)taccccfs	p.YP1324fs	ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.YP1324fs|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.YP941fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1324					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.Y1324fs*1(1)|p.Y1324*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCTAGCCGCTACCCCCCgcagc	0.599			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	2	Substitution - Nonsense(1)|Insertion - Frameshift(1)	p.Y1324fs*1(1)|p.Y1324*(1)	ovary(1)|endometrium(1)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(3970-3972)tccfs		AT rich interactive domain 1A (SWI-like)																																				SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27100175_27100176insC	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3977dupC	1.37:g.27100181_27100181dupC	ENSP00000320485:p.Tyr1324fs					ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.S941fs|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.S1324fs	p.S1324fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	16	4342_4343	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1324					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Ins	INS	ENST00000324856.7	37	c.3971_3972insC	CCDS285.1																																																																																				0.599	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		51	126						51	126	---	---	---	---
NRG2	9542	broad.mit.edu	37	5	139422523	139422531	+	In_Frame_Del	DEL	GCCGCTCTC	GCCGCTCTC	-			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr5:139422523_139422531delGCCGCTCTC	ENST00000361474.1	-	1	348_356	c.124_132delGAGAGCGGC	c.(124-132)gagagcggcdel	p.ESG42del	NRG2_ENST00000541337.1_In_Frame_Del_p.ESG42del|NRG2_ENST00000289409.4_In_Frame_Del_p.ESG42del|NRG2_ENST00000394770.1_In_Frame_Del_p.ESG42del|NRG2_ENST00000358522.3_In_Frame_Del_p.ESG42del|NRG2_ENST00000545385.1_In_Frame_Del_p.ESG42del|NRG2_ENST00000289422.7_In_Frame_Del_p.ESG42del	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	42	Poly-Ser.				embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			tgctgctgctgccgctctcgctgctgctg	0.708																																						ENST00000541337.1																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(124-132)del		neuregulin 2			,,,,	35,2299		16,3,1148					,,,,	2.6	1.0			3	71,4909		25,21,2444	no	coding,coding,coding,coding,coding	NRG2	NM_013983.2,NM_013982.2,NM_013981.3,NM_004883.2,NM_001184935.1	,,,,	41,24,3592	A1A1,A1R,RR		1.4257,1.4996,1.4493	,,,,	,,,,		106,7208				SO:0001651	inframe_deletion	9542				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity	g.chr5:139422523_139422531delGCCGCTCTC		CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"""Immunoglobulin superfamily / I-set domain containing"""	7998	protein-coding gene	gene with protein product	"""neural- and thymus-derived activator for ErbB kinases"", ""divergent of neuregulin-1"""	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.124_132delGAGAGCGGC	5.37:g.139422523_139422531delGCCGCTCTC	ENSP00000354910:p.Glu42_Gly44del					NRG2_ENST00000289422.7_In_Frame_Del_p.ESG42del|NRG2_ENST00000289409.4_In_Frame_Del_p.ESG42del|NRG2_ENST00000394770.1_In_Frame_Del_p.ESG42del|NRG2_ENST00000358522.3_In_Frame_Del_p.ESG42del|NRG2_ENST00000545385.1_In_Frame_Del_p.ESG42del|NRG2_ENST00000361474.1_In_Frame_Del_p.ESG42del	p.ESG42del	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	353_361	-			42			Poly-Ser.			In_Frame_Del	DEL	ENST00000361474.1	37	c.124_132delGAGAGCGGC	CCDS4217.1																																																																																				0.708	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982		2	4						2	4	---	---	---	---
TOR1A	1861	broad.mit.edu	37	9	132576341	132576343	+	In_Frame_Del	DEL	CTC	CTC	-	rs80358233		TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr9:132576341_132576343delCTC	ENST00000351698.4	-	5	955_957	c.907_909delGAG	c.(907-909)gagdel	p.E303del		NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	303	Interaction with KLC1.		Missing (in DYT1; dominant negative; loss of interaction with TOR1AIP1 and TOR1AIP2 with loss of ATPase activity induction; enriched in the nuclear envelope; impairs secretory pathway; produces intracellular misfolded protein aggregates; produces an enlarged perinuclear space; dbSNP:rs80358233). {ECO:0000269|PubMed:9288096}.		ATP catabolic process (GO:0006200)|cell adhesion (GO:0007155)|chaperone mediated protein folding requiring cofactor (GO:0051085)|chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|ER-associated misfolded protein catabolic process (GO:0071712)|intermediate filament cytoskeleton organization (GO:0045104)|neuron projection development (GO:0031175)|nuclear envelope organization (GO:0006998)|nuclear membrane organization (GO:0071763)|organelle organization (GO:0006996)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|protein deneddylation (GO:0000338)|protein homooligomerization (GO:0051260)|protein localization to nucleus (GO:0034504)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of protein localization to cell surface (GO:2000008)|response to oxidative stress (GO:0006979)|synaptic vesicle transport (GO:0048489)|wound healing, spreading of cells (GO:0044319)	cell junction (GO:0030054)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cytoskeletal protein binding (GO:0008092)|kinesin binding (GO:0019894)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				AAAATGTCATCTCCTCAGCCACT	0.424																																						ENST00000351698.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	GRCh37	CD972174	TOR1A	D		c.(907-909)del		torsin family 1, member A (torsin A)																																				SO:0001651	inframe_deletion	1861				chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding	g.chr9:132576341_132576343delCTC	AF007871	CCDS6930.1	9q32-q34	2008-07-21	2004-11-24	2004-11-26	ENSG00000136827	ENSG00000136827			3098	protein-coding gene	gene with protein product		605204	"""dystonia 1, torsion (autosomal dominant; torsin A)"""	DYT1		10644435	Standard	NM_000113		Approved	DQ2	uc004byl.3	O14656	OTTHUMG00000020794	ENST00000351698.4:c.907_909delGAG	9.37:g.132576344_132576346delCTC	ENSP00000345719:p.Glu303del						p.E303del	NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN			5	955_957	-		Ovarian(14;0.00556)	303		Missing (in DYT1).			B2RB58|Q53Y64|Q96CA0	In_Frame_Del	DEL	ENST00000351698.4	37	c.907_909delGAG	CCDS6930.1																																																																																				0.424	TOR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054611.1	NM_000113		119	269						119	269	---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46123899	46123903	+	Frame_Shift_Del	DEL	TACTT	TACTT	-			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr12:46123899_46123903delTACTT	ENST00000334344.6	+	2	337_341	c.165_169delTACTT	c.(163-171)actactttafs	p.TL56fs	ARID2_ENST00000422737.1_5'UTR|LINC00938_ENST00000609803.1_lincRNA	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	56	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CCAGAGTCACTACTTTAGGCGGATT	0.537			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(163-171)actafs		AT rich interactive domain 2 (ARID, RFX-like)																																				SO:0001589	frameshift_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46123899_46123903delTACTT		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.165_169delTACTT	12.37:g.46123899_46123903delTACTT	ENSP00000335044:p.Thr56fs					ARID2_ENST00000422737.1_5'UTR	p.TTL55fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	2	337_341	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	55			ARID.		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Frame_Shift_Del	DEL	ENST00000334344.6	37	c.165_169delTACTT	CCDS31783.1																																																																																				0.537	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		36	92						36	92	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102296030	102296032	+	RNA	DEL	CTC	CTC	-			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr15:102296030_102296032delCTC	ENST00000561463.1	+	0	4076_4078									DNM1 pseudogene 47																		AGTTCATCTTCTCGGAGCTGCTG	0.596																																						ENST00000561463.1																			0																																																			0							g.chr15:102296030_102296032delCTC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102296030_102296032delCTC														0	4076_4078	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.596	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		2	4						2	4	---	---	---	---
ALDOA	226	broad.mit.edu	37	16	30081251	30081253	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr16:30081251_30081253delCTC	ENST00000566897.1	+	11	2052_2054	c.900_902delCTC	c.(898-903)ttctcc>ttc	p.S301del	ALDOA_ENST00000564546.1_In_Frame_Del_p.S301del|ALDOA_ENST00000564595.2_In_Frame_Del_p.S355del|ALDOA_ENST00000338110.5_In_Frame_Del_p.S301del|ALDOA_ENST00000569798.1_In_Frame_Del_p.S301del|ALDOA_ENST00000395248.1_In_Frame_Del_p.S355del|ALDOA_ENST00000563060.2_In_Frame_Del_p.S301del|ALDOA_ENST00000395240.3_In_Frame_Del_p.S305del|ALDOA_ENST00000569545.1_In_Frame_Del_p.S301del|ALDOA_ENST00000412304.2_In_Frame_Del_p.S301del			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	301					actin filament organization (GO:0007015)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homotetramerization (GO:0051289)|regulation of cell shape (GO:0008360)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|membrane (GO:0016020)|nucleus (GO:0005634)|platelet alpha granule lumen (GO:0031093)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|tubulin binding (GO:0015631)			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						CCCTGACCTTCTCCTACGGCCGA	0.621																																						ENST00000566897.1																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						c.(898-903)ttc>tt		aldolase A, fructose-bisphosphate																																				SO:0001651	inframe_deletion	226				actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding	g.chr16:30081251_30081253delCTC	X05236	CCDS10668.1, CCDS58450.1	16p11.2	2008-03-06			ENSG00000149925	ENSG00000149925	4.1.2.13		414	protein-coding gene	gene with protein product		103850				3570299	Standard	NM_000034		Approved		uc010veg.2	P04075	OTTHUMG00000132107	ENST00000566897.1:c.900_902delCTC	16.37:g.30081251_30081253delCTC	ENSP00000455724:p.Ser301del					ALDOA_ENST00000395240.3_In_Frame_Del_p.FS304del|ALDOA_ENST00000569798.1_In_Frame_Del_p.FS300del|ALDOA_ENST00000564546.1_In_Frame_Del_p.FS300del|ALDOA_ENST00000338110.5_In_Frame_Del_p.FS300del|ALDOA_ENST00000412304.2_In_Frame_Del_p.FS300del|ALDOA_ENST00000563060.2_In_Frame_Del_p.FS300del|ALDOA_ENST00000395248.1_In_Frame_Del_p.FS354del|ALDOA_ENST00000564595.2_In_Frame_Del_p.FS354del|ALDOA_ENST00000569545.1_In_Frame_Del_p.FS300del	p.FS300del			P04075	ALDOA_HUMAN			11	2052_2054	+			300					B4DXI7|Q6FH76|Q6FI10|Q96B15|Q9BWD9|Q9UCN2	In_Frame_Del	DEL	ENST00000566897.1	37	c.900_902delCTC	CCDS10668.1																																																																																				0.621	ALDOA-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435360.1	NM_000034		9	67						9	67	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579420	7579420	+	Frame_Shift_Del	DEL	G	G	-	rs587783062		TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr17:7579420delG	ENST00000269305.4	-	4	456	c.267delC	c.(265-267)cccfs	p.P89fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.P89fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P89fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Del_p.P89fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P89fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.P89fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	89	Interaction with WWOX.		P -> L (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.S90fs*59(6)|p.A76_S90del15(3)|p.A88fs*32(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.D48fs*55(1)|p.P85fs*58(1)|p.S33fs*23(1)|p.A86fs*33(1)|p.A86fs*32(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.A88fs*52(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGGGCCAGGAGGGGGCTGGTG	0.627		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		32	Deletion - Frameshift(15)|Whole gene deletion(8)|Insertion - Frameshift(6)|Deletion - In frame(3)	p.0?(8)|p.S90fs*59(6)|p.A76_S90del15(3)|p.A88fs*32(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.D48fs*55(1)|p.P85fs*58(1)|p.S33fs*23(1)|p.A86fs*33(1)|p.A86fs*32(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.A88fs*52(1)	liver(6)|upper_aerodigestive_tract(4)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|prostate(4)|bone(4)|central_nervous_system(2)|breast(2)|stomach(1)|urinary_tract(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(265-267)ccfs	Other conserved DNA damage response genes	tumor protein p53							45.0	52.0	50.0					17																	7579420		2202	4299	6501	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579420delG	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.267delC	17.37:g.7579420delG	ENSP00000269305:p.Pro89fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Frame_Shift_Del_p.P89fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P89fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P89fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P89fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P89fs	p.P89fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	399	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	89		P -> L (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).	Interaction with WWOX.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.267delC	CCDS11118.1																																																																																				0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		59	98						59	98	---	---	---	---
TMC6	11322	broad.mit.edu	37	17	76109632	76109636	+	Frame_Shift_Del	DEL	CTCCT	CTCCT	-	rs564327127|rs189863331		TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr17:76109632_76109636delCTCCT	ENST00000590602.1	-	19	2506_2510	c.2347_2351delAGGAG	c.(2347-2352)aggagcfs	p.RS783fs	TNRC6C-AS1_ENST00000589217.1_RNA|TMC6_ENST00000392467.3_Frame_Shift_Del_p.RS783fs|TMC6_ENST00000306591.7_Frame_Shift_Del_p.RS432fs|TMC6_ENST00000592076.1_5'UTR|TMC6_ENST00000322933.4_Frame_Shift_Del_p.RS362fs|TMC6_ENST00000591436.1_Frame_Shift_Del_p.RS362fs|TMC6_ENST00000322914.3_Frame_Shift_Del_p.RS783fs			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	783					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CCCTCACCTGCTCCTCTCCTCCCTC	0.576																																						ENST00000590602.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14						c.(2347-2352)cfs		transmembrane channel-like 6																																				SO:0001589	frameshift_variant	11322					endoplasmic reticulum membrane|integral to membrane		g.chr17:76109632_76109636delCTCCT	AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"""epidermodysplasia verruciformis 1"""	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.2347_2351delAGGAG	17.37:g.76109637_76109641delCTCCT	ENSP00000465261:p.Arg783fs					TMC6_ENST00000591436.1_Frame_Shift_Del_p.RS362fs|TMC6_ENST00000392467.3_Frame_Shift_Del_p.RS783fs|TMC6_ENST00000322914.3_Frame_Shift_Del_p.RS783fs|TMC6_ENST00000322933.4_Frame_Shift_Del_p.RS362fs|TMC6_ENST00000306591.7_Frame_Shift_Del_p.RS432fs|TMC6_ENST00000592076.1_5'UTR	p.RS783fs			Q7Z403	TMC6_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		19	2506_2510	-			783					O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Frame_Shift_Del	DEL	ENST00000590602.1	37	c.2347_2351delAGGAG	CCDS32748.1																																																																																				0.576	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437146.1			37	80						37	80	---	---	---	---
CEP76	79959	broad.mit.edu	37	18	12686414	12686415	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr18:12686414_12686415delAT	ENST00000262127.2	-	8	1193_1194	c.968_969delAT	c.(967-969)tatfs	p.Y323fs	PSMG2_ENST00000585331.2_Intron|CEP76_ENST00000423709.2_Frame_Shift_Del_p.Y248fs|PSMG2_ENST00000589405.1_3'UTR	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	323					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTGGTTTAACATAGGAACAGAC	0.396																																						ENST00000262127.2																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(967-969)tfs		centrosomal protein 76kDa																																				SO:0001589	frameshift_variant	79959				G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding	g.chr18:12686414_12686415delAT	BC026307	CCDS11861.1, CCDS62390.1	18p11.21	2014-02-20	2005-12-01	2005-12-01	ENSG00000101624	ENSG00000101624			25727	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 9"""	C18orf9		14654843	Standard	NM_024899		Approved	HsT1705, FLJ12542	uc002kri.4	Q8TAP6	OTTHUMG00000131701	ENST00000262127.2:c.968_969delAT	18.37:g.12686414_12686415delAT	ENSP00000262127:p.Tyr323fs					CEP76_ENST00000423709.2_Frame_Shift_Del_p.Y248fs|RP11-973H7.2_ENST00000585331.1_RNA	p.Y323fs	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN			8	1193_1194	-			323					B0YJB2|B4DXG5|B4DZW1|Q658N5|Q9H9U7	Frame_Shift_Del	DEL	ENST00000262127.2	37	c.968_969delAT	CCDS11861.1																																																																																				0.396	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254611.1	NM_024899		16	270						16	270	---	---	---	---
ZNF44	51710	broad.mit.edu	37	19	12360811	12360811	+	Frame_Shift_Del	DEL	T	T	-			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr19:12360811delT	ENST00000426973.1	-	3	202	c.203delA	c.(202-204)aacfs	p.N68fs				P15621	ZNF44_HUMAN	zinc finger protein 44	106	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TCTCCCCTGGTTTTTGTACTG	0.294																																						ENST00000426973.1																			0				ovary(1)	1						c.(202-204)acfs		zinc finger protein 44																																				SO:0001589	frameshift_variant	51710				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:12360811delT	X52338	CCDS45988.1, CCDS54223.1	19p13.2	2013-01-08	2006-05-11		ENSG00000197857	ENSG00000197857		"""Zinc fingers, C2H2-type"", ""-"""	13110	protein-coding gene	gene with protein product		194542	"""zinc finger protein 58"", ""zinc finger protein 44 (KOX 7)"", ""zinc finger protein 55"""	ZNF58, ZNF55		1946370, 1505991	Standard	NM_016264		Approved	KOX7, ZNF504	uc010xmj.2	P15621	OTTHUMG00000156424	ENST00000426973.1:c.203delA	19.37:g.12360811delT	ENSP00000395745:p.Asn68fs						p.N68fs			P15621	ZNF44_HUMAN		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)	3	202	-		Renal(1328;0.157)	106			KRAB.		B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	Frame_Shift_Del	DEL	ENST00000426973.1	37	c.203delA																																																																																					0.294	ZNF44-201	KNOWN	basic	protein_coding	protein_coding		NM_016264		2	4						2	4	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76890157	76890158	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chrX:76890157_76890158delCA	ENST00000373344.5	-	17	4950_4951	c.4736_4737delTG	c.(4735-4737)gtgfs	p.V1579fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.V1541fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1579					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTGTTTTTTTCACAGACTCACA	0.366			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(4735-4737)gfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76890157_76890158delCA	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4736_4737delTG	X.37:g.76890159_76890160delCA	ENSP00000362441:p.Val1579fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.V1541fs	p.V1579fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			17	4950_4951	-			1579					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.4736_4737delTG	CCDS14434.1																																																																																				0.366	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		162	32						162	32	---	---	---	---
