#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
DISC1	27185	broad.mit.edu	37	1	232144704	232144704	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr1:232144704A>G	ENST00000439617.2	+	11	2269	c.2216A>G	c.(2215-2217)gAg>gGg	p.E739G	DISC1_ENST00000535983.1_3'UTR|DISC1_ENST00000366637.3_Missense_Mutation_p.E71G|DISC1_ENST00000537876.1_3'UTR|DISC1_ENST00000427560.1_3'UTR	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	739	Interaction with ATF4 and ATF5.|Interaction with PAFAH1B1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				CTCCACTCCGAGGATAAAAGG	0.537																																						ENST00000439617.2																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						c.(2215-2217)gAg>gGg		disrupted in schizophrenia 1							66.0	65.0	65.0					1																	232144704		1901	4134	6035	SO:0001583	missense	27185				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding	g.chr1:232144704A>G	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000439617.2:c.2216A>G	1.37:g.232144704A>G	ENSP00000403888:p.Glu739Gly					DISC1_ENST00000427560.1_3'UTR|DISC1_ENST00000366637.3_Missense_Mutation_p.E71G|DISC1_ENST00000537876.1_3'UTR|DISC1_ENST00000535983.1_3'UTR	p.E739G	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN			11	2269	+		all_cancers(173;0.0208)|Prostate(94;0.0975)	739			Interaction with ATF4 and ATF5.|Interaction with PAFAH1B1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.		A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	ENST00000439617.2	37	c.2216A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.04|16.04	3.009212|3.009212	0.54361|0.54361	.|.	.|.	ENSG00000162946|ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000366638;ENST00000532576;ENST00000427560|ENST00000422590	T|.	0.14766|.	2.48|.	4.72|4.72	3.59|3.59	0.41128|0.41128	.|.	0.297426|.	0.30850|.	N|.	0.008743|.	T|T	0.26521|0.26521	0.0648|0.0648	L|L	0.27053|0.27053	0.805|0.805	0.18873|0.18873	N|N	0.999987|0.999987	D;B;D;B;B;B;B|.	0.59357|.	0.981;0.09;0.985;0.033;0.033;0.033;0.033|.	P;B;P;B;B;B;B|.	0.58873|.	0.791;0.04;0.847;0.04;0.04;0.04;0.04|.	T|T	0.18713|0.18713	-1.0328|-1.0328	10|5	0.52906|.	T|.	0.07|.	-0.6264|-0.6264	7.0621|7.0621	0.25131|0.25131	0.8981:0.0:0.1019:0.0|0.8981:0.0:0.1019:0.0	.|.	771;617;771;739;617;739;739|.	C4P096;C4P094;E2QRA4;C4P098;F5H1F1;Q9NRI5-2;Q9NRI5|.	.;.;.;.;.;.;DISC1_HUMAN|.	G|G	739;739;771;617;71|142	ENSP00000403888:E739G|.	ENSP00000355597:E739G|.	E|R	+|+	2|1	0|2	DISC1|DISC1	230211327|230211327	1.000000|1.000000	0.71417|0.71417	0.004000|0.004000	0.12327|0.12327	0.001000|0.001000	0.01503|0.01503	4.666000|4.666000	0.61554|0.61554	0.823000|0.823000	0.34589|0.34589	-0.297000|-0.297000	0.09499|0.09499	GAG|AGG		0.537	DISC1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000092351.2	NM_018662		5	10	5	10	---	---	---	---
SIX3	6496	broad.mit.edu	37	2	45170030	45170030	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr2:45170030G>A	ENST00000260653.3	+	1	1129	c.787G>A	c.(787-789)Gcc>Acc	p.A263T	SIX3-AS1_ENST00000419364.1_RNA|SIX3-AS1_ENST00000456467.1_RNA	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	263					brain development (GO:0007420)|circadian behavior (GO:0048512)|diencephalon development (GO:0021536)|eye development (GO:0001654)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|lens induction in camera-type eye (GO:0060235)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein import into nucleus (GO:0006606)|telencephalon development (GO:0021537)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|transcription corepressor binding (GO:0001222)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GCGCGACCGCGCCGCGGCGGC	0.677																																						ENST00000260653.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11						c.(787-789)Gcc>Acc		SIX homeobox 3							12.0	14.0	13.0					2																	45170030		1840	3906	5746	SO:0001583	missense	6496				visual perception	nucleus		g.chr2:45170030G>A	AF092047	CCDS1821.1	2p21	2011-06-20	2007-07-13		ENSG00000138083	ENSG00000138083		"""Homeoboxes / SINE class"""	10889	protein-coding gene	gene with protein product		603714	"""holoprosencephaly 2, alobar or semilobar"", ""sine oculis homeobox homolog 3 (Drosophila)"""	HPE2		9889003, 10369266	Standard	NM_005413		Approved		uc002run.2	O95343	OTTHUMG00000152424	ENST00000260653.3:c.787G>A	2.37:g.45170030G>A	ENSP00000260653:p.Ala263Thr						p.A263T	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN			1	1129	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	263			Poly-Ala.		D6W5A5|Q53T42	Missense_Mutation	SNP	ENST00000260653.3	37	c.787G>A	CCDS1821.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.400157	0.42613	.	.	ENSG00000138083	ENST00000260653	D	0.91631	-2.88	3.38	2.47	0.30058	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.000000	0.64402	U	0.000002	D	0.90160	0.6925	N	0.16233	0.39	0.58432	D	0.999998	D	0.65815	0.995	P	0.62435	0.902	D	0.88139	0.2843	10	0.39692	T	0.17	.	11.9629	0.53019	0.0:0.1775:0.8224:0.0	.	263	O95343	SIX3_HUMAN	T	263	ENSP00000260653:A263T	ENSP00000260653:A263T	A	+	1	0	SIX3	45023534	1.000000	0.71417	0.997000	0.53966	0.249000	0.25844	9.273000	0.95719	0.590000	0.29694	0.484000	0.47621	GCC		0.677	SIX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326192.1	NM_005413		5	12	5	12	---	---	---	---
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C	rs369310197		TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					protein targeting to Golgi (GO:0000042)			p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373																																						ENST00000409886.3																			6	Substitution - Missense(6)	p.N756D(6)	endometrium(6)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2266-2268)Aac>Gac		RANBP2-like and GRIP domain containing 3							164.0	133.0	142.0					2																	107049681		692	1590	2282	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107049681T>C		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2266A>G	2.37:g.107049681T>C	ENSP00000386588:p.Asn756Asp					RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2353	-			756					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2266A>G	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481585	0.00163	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23754	1.89;1.89	2.34	2.34	0.29019	.	.	.	.	.	T	0.07638	0.0192	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	9	0.02654	T	1	-2.2547	7.1228	0.25454	0.0:0.8499:0.0:0.1501	.	756	A6NKT7	RGPD3_HUMAN	D	756;514;756	ENSP00000386588:N756D;ENSP00000303659:N756D	ENSP00000303659:N756D	N	-	1	0	RGPD3	106416113	0.974000	0.33945	0.242000	0.24170	0.003000	0.03518	4.107000	0.57811	0.325000	0.23359	-1.206000	0.01644	AAC		0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		4	237	4	237	---	---	---	---
DNAJC10	54431	broad.mit.edu	37	2	183622509	183622509	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr2:183622509A>G	ENST00000264065.7	+	19	2315	c.1900A>G	c.(1900-1902)Ata>Gta	p.I634V		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	634	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ATACCCTGAGATAAGATTTTT	0.308																																					Pancreas(56;860 1183 25669 35822 48585)	ENST00000264065.7																			0				breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32						c.(1900-1902)Ata>Gta		DnaJ (Hsp40) homolog, subfamily C, member 10							70.0	76.0	74.0					2																	183622509		2203	4300	6503	SO:0001583	missense	54431				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding	g.chr2:183622509A>G		CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"""Heat shock proteins / DNAJ (HSP40)"", ""Protein disulfide isomerases"""	24637	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 19"""	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.1900A>G	2.37:g.183622509A>G	ENSP00000264065:p.Ile634Val						p.I634V	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		19	2315	+						Thioredoxin 3.		Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Missense_Mutation	SNP	ENST00000264065.7	37	c.1900A>G	CCDS33345.1	.	.	.	.	.	.	.	.	.	.	A	18.47	3.631858	0.67015	.	.	ENSG00000077232	ENST00000264065;ENST00000392392	T	0.42131	0.98	5.87	5.87	0.94306	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.59088	0.2168	L	0.49640	1.575	0.80722	D	1	P;D	0.89917	0.867;1.0	P;D	0.87578	0.47;0.998	T	0.54510	-0.8283	10	0.34782	T	0.22	.	16.2496	0.82475	1.0:0.0:0.0:0.0	.	588;634	Q8IXB1-2;Q8IXB1	.;DJC10_HUMAN	V	634;588	ENSP00000264065:I634V	ENSP00000264065:I634V	I	+	1	0	DNAJC10	183330754	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.083000	0.89515	2.371000	0.80710	0.533000	0.62120	ATA		0.308	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981		3	34	3	34	---	---	---	---
SPAG16	79582	broad.mit.edu	37	2	214174863	214174863	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr2:214174863G>C	ENST00000331683.5	+	4	455	c.360G>C	c.(358-360)atG>atC	p.M120I	SPAG16_ENST00000432529.2_Missense_Mutation_p.M120I|SPAG16_ENST00000413312.1_Missense_Mutation_p.M89I|SPAG16_ENST00000374309.3_Intron|SPAG16_ENST00000414961.2_3'UTR|SPAG16_ENST00000272898.7_Missense_Mutation_p.M120I|SPAG16_ENST00000447990.1_Missense_Mutation_p.M120I	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	120					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TGATCAAAATGGGAATGACCA	0.318																																						ENST00000413312.1																			0				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56						c.(265-267)atG>atC		sperm associated antigen 16							126.0	132.0	130.0					2																	214174863		2203	4300	6503	SO:0001583	missense	79582				cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:214174863G>C	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.360G>C	2.37:g.214174863G>C	ENSP00000332592:p.Met120Ile					SPAG16_ENST00000414961.2_3'UTR|SPAG16_ENST00000374309.3_Intron|SPAG16_ENST00000331683.5_Missense_Mutation_p.M120I|SPAG16_ENST00000432529.2_Missense_Mutation_p.M120I|SPAG16_ENST00000447990.1_Missense_Mutation_p.M120I|SPAG16_ENST00000272898.7_Missense_Mutation_p.M120I	p.M89I			Q8N0X2	SPG16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)	3	513	+		Renal(323;0.00461)	120					Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	37	c.267G>C	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.291772	0.59976	.	.	ENSG00000144451	ENST00000331683;ENST00000432529;ENST00000413312;ENST00000272898;ENST00000447990	T	0.57595	0.39	5.61	5.61	0.85477	.	0.295025	0.39407	N	0.001378	T	0.70124	0.3188	M	0.75777	2.31	0.80722	D	1	P;P;P;P	0.50528	0.831;0.673;0.936;0.774	B;P;P;B	0.61201	0.406;0.542;0.885;0.296	T	0.71155	-0.4675	10	0.56958	D	0.05	.	15.492	0.75615	0.0:0.0:1.0:0.0	.	89;60;120;120	Q8N0X2-3;Q4G1A2;Q8N0X2;Q8N0X2-4	.;.;SPG16_HUMAN;.	I	120;120;89;120;120	ENSP00000332592:M120I	ENSP00000272898:M120I	M	+	3	0	SPAG16	213883108	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.881000	0.69706	2.802000	0.96397	0.655000	0.94253	ATG		0.318	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		7	41	7	41	---	---	---	---
HAPLN1	1404	broad.mit.edu	37	5	82937445	82937445	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr5:82937445C>T	ENST00000274341.4	-	5	1785	c.935G>A	c.(934-936)gGc>gAc	p.G312D		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	312	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	GCGGACGCTGCCATCCGCCAA	0.532																																						ENST00000274341.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34						c.(934-936)gGc>gAc		hyaluronan and proteoglycan link protein 1							110.0	115.0	113.0					5																	82937445		2203	4300	6503	SO:0001583	missense	1404				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr5:82937445C>T		CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"""Immunoglobulin superfamily / V-set domain containing"""	2380	protein-coding gene	gene with protein product	"""Cartilage link protein"", ""hyaluronan and proteoglycan link protein 1"""	115435	"""cartilage linking protein 1"""	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.935G>A	5.37:g.82937445C>T	ENSP00000274341:p.Gly312Asp						p.G312D	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	5	1785	-		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)	312			Link 2.		B2R9A9	Missense_Mutation	SNP	ENST00000274341.4	37	c.935G>A	CCDS4061.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.479996	0.84747	.	.	ENSG00000145681	ENST00000274341	T	0.35789	1.29	5.22	5.22	0.72569	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.000000	0.85682	D	0.000000	T	0.71384	0.3333	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79674	-0.1705	10	0.72032	D	0.01	.	19.1617	0.93535	0.0:1.0:0.0:0.0	.	312	P10915	HPLN1_HUMAN	D	312	ENSP00000274341:G312D	ENSP00000274341:G312D	G	-	2	0	HAPLN1	82973201	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.969000	0.70422	2.581000	0.87130	0.655000	0.94253	GGC		0.532	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		24	96	24	96	---	---	---	---
PCDHGA6	56109	broad.mit.edu	37	5	140756065	140756065	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr5:140756065G>T	ENST00000517434.1	+	1	2415	c.2415G>T	c.(2413-2415)agG>agT	p.R805S	PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	805					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAACCCAGGCAACTTCAGG	0.478																																						ENST00000517434.1																			0				breast(1)|large_intestine(1)	2						c.(2413-2415)agG>agT									57.0	59.0	58.0					5																	140756065		2125	4260	6385	SO:0001583	missense	56109							g.chr5:140756065G>T	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.2415G>T	5.37:g.140756065G>T	ENSP00000429601:p.Arg805Ser					PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron	p.R805S	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2415	+								A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	37	c.2415G>T	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	0.019	-1.451715	0.01080	.	.	ENSG00000253731	ENST00000517434	D	0.94497	-3.44	3.03	-6.06	0.02165	.	.	.	.	.	T	0.76948	0.4059	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.67964	-0.5534	9	0.06891	T	0.86	.	2.2176	0.03964	0.1466:0.0978:0.2644:0.4913	.	805;805	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	S	805	ENSP00000429601:R805S	ENSP00000429601:R805S	R	+	3	2	PCDHGA6	140736249	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-4.637000	0.00205	-3.222000	0.00211	0.305000	0.20034	AGG		0.478	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		11	28	11	28	---	---	---	---
HEPACAM2	253012	broad.mit.edu	37	7	92838015	92838015	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr7:92838015G>A	ENST00000394468.2	-	4	967	c.890C>T	c.(889-891)cCt>cTt	p.P297L	HEPACAM2_ENST00000440868.1_Missense_Mutation_p.P285L|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.P285L|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.P320L	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	297	Ig-like C2-type 2.				centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TTCTAAGCGAGGCCCATGCTT	0.448																																						ENST00000394468.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						c.(889-891)cCt>cTt		HEPACAM family member 2							167.0	150.0	156.0					7																	92838015		2203	4300	6503	SO:0001583	missense	253012					integral to membrane		g.chr7:92838015G>A	AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.890C>T	7.37:g.92838015G>A	ENSP00000377980:p.Pro297Leu					HEPACAM2_ENST00000341723.4_Missense_Mutation_p.P285L|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.P285L|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.P320L	p.P297L	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN			4	967	-			297			Ig-like C2-type 2.		B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Missense_Mutation	SNP	ENST00000394468.2	37	c.890C>T	CCDS43616.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.283389	0.80803	.	.	ENSG00000188175	ENST00000394468;ENST00000341723;ENST00000440868;ENST00000453812	T;T;T;T	0.12569	2.67;2.67;2.67;2.67	5.23	5.23	0.72850	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.26122	0.0637	L	0.34521	1.04	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;0.997	D;D;D;D	0.79108	0.985;0.992;0.981;0.956	T	0.00472	-1.1719	10	0.30078	T	0.28	-18.3878	16.0183	0.80460	0.0:0.1347:0.8653:0.0	.	320;285;297;285	E9PDV5;C9JN07;A8MVW5;A8MVW5-2	.;.;HECA2_HUMAN;.	L	297;285;285;320	ENSP00000377980:P297L;ENSP00000340532:P285L;ENSP00000389592:P285L;ENSP00000390204:P320L	ENSP00000340532:P285L	P	-	2	0	HEPACAM2	92675951	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	6.730000	0.74780	2.826000	0.97356	0.655000	0.94253	CCT		0.448	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151		18	48	18	48	---	---	---	---
CHMP5	51510	broad.mit.edu	37	9	33262714	33262714	+	5'Flank	SNP	T	T	A			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr9:33262714T>A	ENST00000223500.8	+	0	0				BAG1_ENST00000379704.2_Missense_Mutation_p.K74I|BAG1_ENST00000467389.2_5'Flank|CHMP5_ENST00000419016.2_5'Flank|BAG1_ENST00000472232.3_Missense_Mutation_p.K189I	NM_016410.5	NP_057494.3	Q9NZZ3	CHMP5_HUMAN	charged multivesicular body protein 5						endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of receptor recycling (GO:0001919)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10			LUSC - Lung squamous cell carcinoma(29;0.00506)			AAATATGAGTTTCTGAAAAGA	0.438																																						ENST00000472232.3																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8						c.(565-567)aAa>aTa		BCL2-associated athanogene							73.0	70.0	71.0					9																	33262714		2203	4300	6503	SO:0001631	upstream_gene_variant	573				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding	cytoplasm|intermediate filament cytoskeleton|nucleus	protein binding|receptor signaling protein activity	g.chr9:33262714T>A	AF132968	CCDS6537.1, CCDS56569.1	9p13.3	2011-09-21	2011-09-21	2005-08-09	ENSG00000086065	ENSG00000086065		"""Charged multivesicular body proteins"""	26942	protein-coding gene	gene with protein product		610900	"""chromosome 9 open reading frame 83"", ""chromatin modifying protein 5"""	C9orf83, SNF7DC2		15644320, 11559748	Standard	NM_016410		Approved	HSPC177, CGI-34, Vps60	uc003zsm.4	Q9NZZ3	OTTHUMG00000019765		9.37:g.33262714T>A	Exception_encountered					BAG1_ENST00000379704.2_Missense_Mutation_p.K74I	p.K189I	NM_001172415.1|NM_004323.5	NP_001165886.1|NP_004314	Q99933	BAG1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)		2	652	-			189			Interaction with HSPA8.|Ubiquitin-like.		B2RD95|B4DIR6|Q5VXW2|Q96AV2|Q9HB68|Q9NYS4|Q9Y323	Missense_Mutation	SNP	ENST00000223500.8	37	c.566A>T	CCDS6537.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.006612	0.74932	.	.	ENSG00000107262	ENST00000472232;ENST00000379700;ENST00000379704;ENST00000473781	T;T;T	0.75938	-0.98;-0.98;-0.98	4.95	3.82	0.43975	Ubiquitin supergroup (1);Ubiquitin (2);	0.049016	0.85682	D	0.000000	D	0.86397	0.5923	M	0.90977	3.165	0.52501	D	0.999956	D	0.76494	0.999	D	0.75020	0.985	D	0.86146	0.1584	10	0.87932	D	0	-11.1572	7.2446	0.26115	0.0:0.0993:0.0:0.9007	.	189	Q99933	BAG1_HUMAN	I	189;74;74;80	ENSP00000420514:K189I;ENSP00000369026:K74I;ENSP00000419092:K80I	ENSP00000369022:K74I	K	-	2	0	BAG1	33252714	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.835000	0.69368	0.907000	0.36646	0.533000	0.62120	AAA		0.438	CHMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052040.3	NM_016410		5	25	5	25	---	---	---	---
ODF2	4957	broad.mit.edu	37	9	131231507	131231507	+	Silent	SNP	C	C	T			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr9:131231507C>T	ENST00000434106.3	+	5	658	c.295C>T	c.(295-297)Ctg>Ttg	p.L99L	ODF2_ENST00000604420.1_Silent_p.L99L|ODF2_ENST00000448249.3_Intron|ODF2_ENST00000444119.2_Silent_p.L75L|ODF2_ENST00000372814.3_Silent_p.L143L|ODF2_ENST00000546203.1_Silent_p.L80L|ODF2_ENST00000393527.3_Silent_p.L75L|RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000372791.3_Silent_p.L80L|ODF2_ENST00000351030.3_Silent_p.L94L|ODF2_ENST00000535026.1_Intron|ODF2_ENST00000372807.5_Silent_p.L94L|ODF2_ENST00000393533.2_Silent_p.L99L	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	99					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						TTCAGAAAAGCTGGTCTCAGT	0.443																																						ENST00000434106.3																			0				autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						c.(295-297)Ctg>Ttg		outer dense fiber of sperm tails 2							182.0	155.0	164.0					9																	131231507		2203	4300	6503	SO:0001819	synonymous_variant	4957				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	g.chr9:131231507C>T	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.295C>T	9.37:g.131231507C>T						ODF2_ENST00000546203.1_Silent_p.L80L|ODF2_ENST00000444119.2_Silent_p.L75L|ODF2_ENST00000351030.3_Silent_p.L94L|ODF2_ENST00000448249.3_Intron|ODF2_ENST00000393527.3_Silent_p.L75L|ODF2_ENST00000372814.3_Silent_p.L143L|ODF2_ENST00000535026.1_Intron|ODF2_ENST00000604420.1_Silent_p.L99L|ODF2_ENST00000372791.3_Silent_p.L80L|RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000372807.5_Silent_p.L94L|ODF2_ENST00000393533.2_Silent_p.L99L	p.L99L	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN			5	658	+								B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Silent	SNP	ENST00000434106.3	37	c.295C>T	CCDS56588.1																																																																																				0.443	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			10	38	10	38	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55955442	55955442	+	Splice_Site	SNP	C	C	T			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr10:55955442C>T	ENST00000320301.6	-	11	1700		c.e11+1		PCDH15_ENST00000414778.1_Splice_Site|PCDH15_ENST00000361849.3_Splice_Site|PCDH15_ENST00000395446.1_Splice_Site|PCDH15_ENST00000437009.1_Splice_Site|PCDH15_ENST00000373957.3_Splice_Site|PCDH15_ENST00000395445.1_Splice_Site|PCDH15_ENST00000395433.1_Splice_Site|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Splice_Site|PCDH15_ENST00000395430.1_Splice_Site|PCDH15_ENST00000395432.2_Splice_Site|PCDH15_ENST00000373965.2_Splice_Site|PCDH15_ENST00000373955.1_Splice_Site|PCDH15_ENST00000395438.1_Splice_Site|PCDH15_ENST00000395440.1_Splice_Site	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15						equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ATTTAACTTACATCTTCTATG	0.368										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.e11+1		protocadherin-related 15							81.0	77.0	79.0					10																	55955442		2203	4300	6503	SO:0001630	splice_region_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55955442C>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1305+1G>A	10.37:g.55955442C>T		HNSCC(58;0.16)				PCDH15_ENST00000395430.1_Splice_Site|PCDH15_ENST00000437009.1_Splice_Site|PCDH15_ENST00000395438.1_Splice_Site|PCDH15_ENST00000395432.2_Splice_Site|PCDH15_ENST00000395445.1_Splice_Site|PCDH15_ENST00000320301.6_Splice_Site|PCDH15_ENST00000361849.3_Splice_Site|PCDH15_ENST00000395433.1_Splice_Site|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Splice_Site|PCDH15_ENST00000395440.1_Splice_Site|PCDH15_ENST00000373955.1_Splice_Site|PCDH15_ENST00000373957.3_Splice_Site|PCDH15_ENST00000395446.1_Splice_Site|PCDH15_ENST00000414778.1_Splice_Site		NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			11	1700	-		Melanoma(3;0.117)|Lung SC(717;0.238)						A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Splice_Site	SNP	ENST00000320301.6	37		CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.151441	0.78001	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0383	0.89312	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PCDH15	55625448	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	7.787000	0.85759	2.368000	0.80403	0.591000	0.81541	.		0.368	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	Intron	12	26	12	26	---	---	---	---
MEN1	4221	broad.mit.edu	37	11	64575501	64575501	+	Missense_Mutation	SNP	A	A	T			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr11:64575501A>T	ENST00000337652.1	-	3	1034	c.531T>A	c.(529-531)gaT>gaA	p.D177E	MEN1_ENST00000394374.2_Missense_Mutation_p.D177E|MEN1_ENST00000377321.1_Missense_Mutation_p.D172E|MEN1_ENST00000443283.1_Missense_Mutation_p.D177E|MEN1_ENST00000312049.6_Missense_Mutation_p.D172E|MEN1_ENST00000394376.1_Missense_Mutation_p.D177E|MEN1_ENST00000478548.1_5'Flank|MEN1_ENST00000377313.1_Missense_Mutation_p.D177E|MEN1_ENST00000315422.4_Missense_Mutation_p.D172E|MEN1_ENST00000377326.3_Missense_Mutation_p.D172E|MEN1_ENST00000377316.2_Missense_Mutation_p.D172E	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	177			D -> Y (in MEN1). {ECO:0000269|PubMed:12112656, ECO:0000269|PubMed:9888389}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.A167fs*10(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CGAGGTGGACATCCCGGAGAC	0.622			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	ENST00000337652.1			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	"""D, Mis, N, F, S"""	multiple endocrine neoplasia type 1 gene			E		"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""	"""parathyroid tumors, Pancreatic neuroendocrine tumors"""		1	Deletion - Frameshift(1)	p.A167fs*10(1)	parathyroid(1)	NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						c.(529-531)gaT>gaA		multiple endocrine neoplasia I							53.0	48.0	50.0					11																	64575501		2201	4297	6498	SO:0001583	missense	4221	Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64575501A>T	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"""menin"""	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.531T>A	11.37:g.64575501A>T	ENSP00000337088:p.Asp177Glu					MEN1_ENST00000394376.1_Missense_Mutation_p.D177E|MEN1_ENST00000377321.1_Missense_Mutation_p.D172E|MEN1_ENST00000394374.2_Missense_Mutation_p.D177E|MEN1_ENST00000312049.6_Missense_Mutation_p.D172E|MEN1_ENST00000377326.3_Missense_Mutation_p.D172E|MEN1_ENST00000377313.1_Missense_Mutation_p.D177E|MEN1_ENST00000443283.1_Missense_Mutation_p.D177E|MEN1_ENST00000315422.4_Missense_Mutation_p.D172E|MEN1_ENST00000377316.2_Missense_Mutation_p.D172E	p.D177E	NM_130803.2	NP_570715	O00255	MEN1_HUMAN			3	1034	-			177		D -> Y (in MEN1).			A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000337652.1	37	c.531T>A	CCDS8083.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.188611	0.78789	.	.	ENSG00000133895	ENST00000377316;ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313;ENST00000440873;ENST00000450708;ENST00000413626	D;D;D;D;D;D;D;D;D;D;D;D;D	0.99674	-6.36;-6.36;-6.36;-6.36;-6.36;-6.36;-6.36;-6.36;-6.36;-6.36;-6.36;-6.36;-6.36	4.76	-0.177	0.13307	.	0.119061	0.53938	D	0.000042	D	0.99384	0.9783	M	0.68317	2.08	0.47659	D	0.999484	D;D;D	0.71674	0.995;0.99;0.998	D;D;D	0.72625	0.917;0.978;0.964	D	0.99091	1.0840	10	0.87932	D	0	-11.9815	8.0418	0.30526	0.6374:0.0:0.3626:0.0	.	172;172;177	O00255-2;O00255-3;O00255	.;.;MEN1_HUMAN	E	172;172;172;172;172;177;177;177;177;177;172;172;172	ENSP00000366533:D172E;ENSP00000366538:D172E;ENSP00000366543:D172E;ENSP00000308975:D172E;ENSP00000323747:D172E;ENSP00000337088:D177E;ENSP00000377901:D177E;ENSP00000377899:D177E;ENSP00000396940:D177E;ENSP00000366530:D177E;ENSP00000413944:D172E;ENSP00000394933:D172E;ENSP00000411218:D172E	ENSP00000308975:D172E	D	-	3	2	MEN1	64332077	0.999000	0.42202	0.999000	0.59377	0.994000	0.84299	0.505000	0.22642	0.008000	0.14787	0.374000	0.22700	GAT		0.622	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			8	18	8	18	---	---	---	---
HOXC4	3221	broad.mit.edu	37	12	54448678	54448678	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr12:54448678G>C	ENST00000430889.2	+	2	530	c.484G>C	c.(484-486)Gcc>Ccc	p.A162P	HOXC4_ENST00000303406.4_Missense_Mutation_p.A162P|HOXC4_ENST00000609810.1_Missense_Mutation_p.A162P	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	162					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						CTCGAGGACAGCCTATACCCG	0.572																																						ENST00000430889.2																			0				cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						c.(484-486)Gcc>Ccc		homeobox C4							41.0	41.0	41.0					12																	54448678		2203	4300	6503	SO:0001583	missense	3221					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54448678G>C		CCDS8873.1	12q13.13	2011-06-20	2005-12-22		ENSG00000198353	ENSG00000198353		"""Homeoboxes / ANTP class : HOXL subclass"""	5126	protein-coding gene	gene with protein product		142974	"""homeo box C4"""	HOX3, HOX3E		1973146, 1358459	Standard	NM_014620		Approved		uc001sex.3	P09017	OTTHUMG00000160036	ENST00000430889.2:c.484G>C	12.37:g.54448678G>C	ENSP00000399808:p.Ala162Pro					HOXC4_ENST00000303406.4_Missense_Mutation_p.A162P|HOXC4_ENST00000609810.1_Missense_Mutation_p.A162P	p.A162P	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN			2	530	+			162						Missense_Mutation	SNP	ENST00000430889.2	37	c.484G>C	CCDS8873.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.579034	0.65878	.	.	ENSG00000198353	ENST00000303406;ENST00000430889	D;D	0.96300	-3.97;-3.97	3.85	3.85	0.44370	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.95762	0.8621	N	0.16862	0.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96732	0.9540	10	0.87932	D	0	.	15.0798	0.72106	0.0:0.0:1.0:0.0	.	162	P09017	HXC4_HUMAN	P	162	ENSP00000305973:A162P;ENSP00000399808:A162P	ENSP00000305973:A162P	A	+	1	0	HOXC4	52734945	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.548000	0.98103	2.139000	0.66308	0.448000	0.29417	GCC		0.572	HOXC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358963.1			7	22	7	22	---	---	---	---
RNF17	56163	broad.mit.edu	37	13	25348980	25348980	+	Silent	SNP	C	C	T			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr13:25348980C>T	ENST00000255324.5	+	3	307	c.255C>T	c.(253-255)cgC>cgT	p.R85R	RNF17_ENST00000381921.1_Silent_p.R85R|RNF17_ENST00000255325.6_Silent_p.R85R|RNF17_ENST00000255326.4_3'UTR	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	85					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CTAGACAACGCTACTACCCAA	0.353																																						ENST00000255324.5																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(253-255)cgC>cgT		ring finger protein 17							101.0	97.0	98.0					13																	25348980		2203	4300	6503	SO:0001819	synonymous_variant	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25348980C>T	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.255C>T	13.37:g.25348980C>T						RNF17_ENST00000381921.1_Silent_p.R85R|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000255325.6_Silent_p.R85R	p.R85R	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	3	307	+		Lung SC(185;0.0225)|Breast(139;0.077)	85					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Silent	SNP	ENST00000255324.5	37	c.255C>T	CCDS9308.2																																																																																				0.353	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		5	26	5	26	---	---	---	---
LCP1	3936	broad.mit.edu	37	13	46733779	46733779	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr13:46733779A>G	ENST00000398576.2	-	5	407	c.19T>C	c.(19-21)Tcc>Ccc	p.S7P	LCP1_ENST00000460190.1_5'UTR|LCP1_ENST00000323076.2_Missense_Mutation_p.S7P			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	7					actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TCCTCATCGGACACTGATCCT	0.403			T	BCL6	NHL																																	ENST00000398576.2				Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL		0				breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34						c.(19-21)Tcc>Ccc		lymphocyte cytosolic protein 1 (L-plastin)							157.0	134.0	141.0					13																	46733779		2203	4300	6503	SO:0001583	missense	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46733779A>G	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.19T>C	13.37:g.46733779A>G	ENSP00000381581:p.Ser7Pro					LCP1_ENST00000323076.2_Missense_Mutation_p.S7P|LCP1_ENST00000460190.1_5'UTR	p.S7P			P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	5	407	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	7					B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	ENST00000398576.2	37	c.19T>C	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.313227	0.81358	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000416500;ENST00000442275	T;T;T;T	0.12879	2.64;2.64;2.64;2.64	5.13	5.13	0.70059	.	0.179147	0.50627	D	0.000103	T	0.22044	0.0531	L	0.54323	1.7	0.80722	D	1	P	0.49090	0.919	P	0.49829	0.623	T	0.00636	-1.1633	10	0.56958	D	0.05	-7.0084	12.9753	0.58534	1.0:0.0:0.0:0.0	.	7	P13796	PLSL_HUMAN	P	7	ENSP00000315757:S7P;ENSP00000381581:S7P;ENSP00000408052:S7P;ENSP00000402157:S7P	ENSP00000315757:S7P	S	-	1	0	LCP1	45631780	1.000000	0.71417	0.995000	0.50966	0.939000	0.58152	5.886000	0.69743	2.048000	0.60808	0.533000	0.62120	TCC		0.403	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		10	39	10	39	---	---	---	---
SPOP	8405	broad.mit.edu	37	17	47696689	47696689	+	Missense_Mutation	SNP	A	A	T			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr17:47696689A>T	ENST00000393328.2	-	5	624	c.259T>A	c.(259-261)Tac>Aac	p.Y87N	SPOP_ENST00000393331.3_Missense_Mutation_p.Y87N|SPOP_ENST00000503676.1_Missense_Mutation_p.Y87N|SPOP_ENST00000347630.2_Missense_Mutation_p.Y87N|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000504102.1_Missense_Mutation_p.Y87N	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	87	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.Y87N(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AGTAACAGGTAAAGTGACAGG	0.403										Prostate(2;0.17)																												ENST00000393331.3																			2	Substitution - Missense(2)	p.Y87N(2)	prostate(2)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(259-261)Tac>Aac		speckle-type POZ protein							113.0	106.0	108.0					17																	47696689		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696689A>T	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.259T>A	17.37:g.47696689A>T	ENSP00000377001:p.Tyr87Asn	Prostate(2;0.17)				SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000347630.2_Missense_Mutation_p.Y87N|SPOP_ENST00000393328.2_Missense_Mutation_p.Y87N|SPOP_ENST00000504102.1_Missense_Mutation_p.Y87N|SPOP_ENST00000503676.1_Missense_Mutation_p.Y87N	p.Y87N	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			6	729	-			87			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.259T>A	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.737620	0.89573	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508	T;T;T;T;T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.52	5.52	0.82312	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	D	0.86163	0.5867	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89503	0.3765	10	0.66056	D	0.02	-9.2801	15.4649	0.75390	1.0:0.0:0.0:0.0	.	87	O43791	SPOP_HUMAN	N	87;87;87;87;87;40;87;87;87;87;87	ENSP00000377001:Y87N;ENSP00000377004:Y87N;ENSP00000240327:Y87N;ENSP00000425905:Y87N;ENSP00000420908:Y87N;ENSP00000426986:Y87N;ENSP00000420960:Y87N;ENSP00000426262:Y87N;ENSP00000424119:Y87N;ENSP00000426537:Y87N	ENSP00000240327:Y87N	Y	-	1	0	SPOP	45051688	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.135000	0.94478	2.317000	0.78254	0.460000	0.39030	TAC		0.403	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		19	55	19	55	---	---	---	---
MBD1	4152	broad.mit.edu	37	18	47801395	47801395	+	Silent	SNP	G	G	A			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr18:47801395G>A	ENST00000591416.1	-	10	1361	c.930C>T	c.(928-930)ccC>ccT	p.P310P	MBD1_ENST00000398488.1_Silent_p.P310P|MBD1_ENST00000349085.2_Silent_p.P310P|MBD1_ENST00000353909.3_Silent_p.P261P|MBD1_ENST00000269468.5_Silent_p.P310P|MBD1_ENST00000382948.5_Silent_p.P310P|MBD1_ENST00000588937.1_Intron|MBD1_ENST00000436910.1_Intron|MBD1_ENST00000457839.2_Silent_p.P335P|MBD1_ENST00000587605.1_Silent_p.P310P|MBD1_ENST00000398493.1_Silent_p.P310P|MBD1_ENST00000269471.5_Intron|MBD1_ENST00000585595.1_Silent_p.P335P|MBD1_ENST00000590208.1_Silent_p.P310P|MBD1_ENST00000347968.3_Silent_p.P310P|MBD1_ENST00000585672.1_Silent_p.P261P|MBD1_ENST00000591535.1_Intron|MBD1_ENST00000339998.6_Silent_p.P310P|MBD1_ENST00000398495.2_Silent_p.P335P|MBD1_ENST00000424334.2_Silent_p.P361P			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	310	Pro-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CAGGTGGCGAGGGGGCCAGGG	0.602																																						ENST00000591416.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(928-930)ccC>ccT		methyl-CpG binding domain protein 1							49.0	51.0	50.0					18																	47801395		2203	4300	6503	SO:0001819	synonymous_variant	4152				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr18:47801395G>A	Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.930C>T	18.37:g.47801395G>A						MBD1_ENST00000457839.2_Silent_p.P335P|MBD1_ENST00000269468.5_Silent_p.P310P|MBD1_ENST00000591535.1_Intron|MBD1_ENST00000585595.1_Silent_p.P335P|MBD1_ENST00000398493.1_Silent_p.P310P|MBD1_ENST00000349085.2_Silent_p.P310P|MBD1_ENST00000269471.5_Intron|MBD1_ENST00000588937.1_Intron|MBD1_ENST00000585672.1_Silent_p.P261P|MBD1_ENST00000590208.1_Silent_p.P310P|MBD1_ENST00000382948.5_Silent_p.P310P|MBD1_ENST00000339998.6_Silent_p.P310P|MBD1_ENST00000398488.1_Silent_p.P310P|MBD1_ENST00000424334.2_Silent_p.P361P|MBD1_ENST00000398495.2_Silent_p.P335P|MBD1_ENST00000347968.3_Silent_p.P310P|MBD1_ENST00000436910.1_Intron|MBD1_ENST00000353909.3_Silent_p.P261P|MBD1_ENST00000587605.1_Silent_p.P310P	p.P310P			Q9UIS9	MBD1_HUMAN			10	1361	-			310			Pro-rich.		A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Silent	SNP	ENST00000591416.1	37	c.930C>T	CCDS11943.1																																																																																				0.602	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846		7	30	7	30	---	---	---	---
ZNF285	26974	broad.mit.edu	37	19	44891979	44891979	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr19:44891979T>C	ENST00000330997.4	-	4	492	c.428A>G	c.(427-429)cAg>cGg	p.Q143R	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.Q150R|ZNF285_ENST00000544719.2_Missense_Mutation_p.Q143R	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	143					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						GGTAAGAACCTGTGTCAGGCT	0.413																																						ENST00000330997.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(427-429)cAg>cGg		zinc finger protein 285							93.0	92.0	92.0					19																	44891979		2203	4300	6503	SO:0001583	missense	26974							g.chr19:44891979T>C	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.428A>G	19.37:g.44891979T>C	ENSP00000333595:p.Gln143Arg					ZNF285_ENST00000544719.2_Missense_Mutation_p.Q143R|ZNF285_ENST00000591679.1_Missense_Mutation_p.Q150R|CTC-512J12.6_ENST00000588212.1_Intron	p.Q143R	NM_152354.3	NP_689567.3					4	492	-								Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	c.428A>G	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	T	5.358	0.251318	0.10130	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.05925	3.37	3.22	0.101	0.14517	.	.	.	.	.	T	0.03095	0.0091	N	0.22421	0.69	0.09310	N	1	B;B	0.34290	0.447;0.447	B;B	0.28232	0.087;0.087	T	0.43829	-0.9367	9	0.16896	T	0.51	.	2.9115	0.05738	0.2007:0.203:0.0:0.5962	.	167;143	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	R	166;143	ENSP00000333595:Q143R	ENSP00000333595:Q143R	Q	-	2	0	ZNF285	49583819	0.005000	0.15991	0.230000	0.23976	0.163000	0.22366	0.695000	0.25527	0.254000	0.21573	0.373000	0.22412	CAG		0.413	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		26	104	26	104	---	---	---	---
TBC1D17	79735	broad.mit.edu	37	19	50386969	50386969	+	Missense_Mutation	SNP	A	A	C			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr19:50386969A>C	ENST00000221543.5	+	10	1392	c.1093A>C	c.(1093-1095)Aac>Cac	p.N365H	TBC1D17_ENST00000535102.2_Missense_Mutation_p.N332H	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	365	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				autophagy (GO:0006914)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	Rab GTPase activator activity (GO:0005097)			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		GGAGCGGAGAAACTCACTTCT	0.567																																						ENST00000221543.5																			0				NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1093-1095)Aac>Cac		TBC1 domain family, member 17							134.0	105.0	115.0					19																	50386969		2203	4300	6503	SO:0001583	missense	79735					intracellular	Rab GTPase activator activity	g.chr19:50386969A>C	AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946			25699	protein-coding gene	gene with protein product						22854040	Standard	NM_024682		Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.1093A>C	19.37:g.50386969A>C	ENSP00000221543:p.Asn365His					TBC1D17_ENST00000535102.2_Missense_Mutation_p.N332H	p.N365H	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	10	1392	+		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)	365			Rab-GAP TBC.		B4DT12|B9A6L8|F5H1W7	Missense_Mutation	SNP	ENST00000221543.5	37	c.1093A>C	CCDS12785.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.034507	0.75617	.	.	ENSG00000104946	ENST00000221543;ENST00000535102	T;T	0.11930	2.73;2.73	5.39	5.39	0.77823	Rab-GAP/TBC domain (4);	0.104868	0.64402	D	0.000007	T	0.39911	0.1096	M	0.86502	2.82	0.58432	D	0.999997	D;D	0.89917	1.0;0.997	D;D	0.83275	0.996;0.984	T	0.38735	-0.9647	10	0.19590	T	0.45	-52.7622	13.3425	0.60553	1.0:0.0:0.0:0.0	.	332;365	F5H1W7;Q9HA65	.;TBC17_HUMAN	H	365;332	ENSP00000221543:N365H;ENSP00000446323:N332H	ENSP00000221543:N365H	N	+	1	0	TBC1D17	55078781	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	8.633000	0.90999	2.038000	0.60285	0.459000	0.35465	AAC		0.567	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466404.1	NM_024682		10	39	10	39	---	---	---	---
ZNF468	90333	broad.mit.edu	37	19	53344800	53344800	+	Silent	SNP	G	G	A	rs202238742		TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr19:53344800G>A	ENST00000595646.1	-	4	867	c.747C>T	c.(745-747)ggC>ggT	p.G249G	ZNF468_ENST00000243639.4_3'UTR|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_Silent_p.G196G|ZNF468_ENST00000396409.4_Silent_p.G196G			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	249					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		TAAAGACCTTGCCACATACAT	0.378																																						ENST00000595646.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23						c.(745-747)ggC>ggT		zinc finger protein 468							120.0	103.0	109.0					19																	53344800		2203	4300	6503	SO:0001819	synonymous_variant	90333				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53344800G>A	AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"""Zinc fingers, C2H2-type"", ""-"""	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.747C>T	19.37:g.53344800G>A						ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000390651.4_Silent_p.G196G|ZNF468_ENST00000396409.4_Silent_p.G196G	p.G249G			Q5VIY5	ZN468_HUMAN		GBM - Glioblastoma multiforme(134;0.0358)	4	867	-			249					A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Silent	SNP	ENST00000595646.1	37	c.747C>T	CCDS33094.1																																																																																				0.378	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1	NM_001008801		12	45	12	45	---	---	---	---
NLRP4	147945	broad.mit.edu	37	19	56369989	56369989	+	Silent	SNP	C	C	T			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr19:56369989C>T	ENST00000301295.6	+	3	1652	c.1230C>T	c.(1228-1230)gaC>gaT	p.D410D	NLRP4_ENST00000346986.5_Silent_p.D410D|NLRP4_ENST00000587891.1_Silent_p.D335D	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	410	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGTGGACAGACACATTTGAGT	0.577																																						ENST00000301295.6																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(1228-1230)gaC>gaT		NLR family, pyrin domain containing 4							95.0	95.0	95.0					19																	56369989		2203	4300	6503	SO:0001819	synonymous_variant	147945						ATP binding	g.chr19:56369989C>T	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1230C>T	19.37:g.56369989C>T						NLRP4_ENST00000346986.5_Silent_p.D410D|NLRP4_ENST00000587891.1_Silent_p.D335D	p.D410D	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	1652	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	410			NACHT.		Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	c.1230C>T	CCDS12936.1																																																																																				0.577	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		18	39	18	39	---	---	---	---
MYO18B	84700	broad.mit.edu	37	22	26422469	26422469	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr22:26422469G>A	ENST00000407587.2	+	43	6701	c.6532G>A	c.(6532-6534)Gcc>Acc	p.A2178T	MYO18B_ENST00000536101.1_Missense_Mutation_p.A2177T|MYO18B_ENST00000335473.7_Missense_Mutation_p.A2177T			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2177						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ACTGAGCAGAGCCCGGTCCAC	0.527																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(6529-6531)Gcc>Acc		myosin XVIIIB							98.0	107.0	104.0					22																	26422469		1961	4150	6111	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26422469G>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6532G>A	22.37:g.26422469G>A	ENSP00000386096:p.Ala2178Thr					MYO18B_ENST00000536101.1_Missense_Mutation_p.A2177T|MYO18B_ENST00000407587.2_Missense_Mutation_p.A2178T	p.A2177T	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			43	6779	+			2177					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.6529G>A		.	.	.	.	.	.	.	.	.	.	G	12.83	2.056350	0.36277	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.87029	-2.18;-2.18;-2.2	5.31	1.3	0.21679	.	.	.	.	.	T	0.77205	0.4096	L	0.41236	1.265	0.09310	N	1	B;B;B;B;B	0.15473	0.002;0.003;0.008;0.001;0.013	B;B;B;B;B	0.15870	0.003;0.002;0.006;0.003;0.014	T	0.59653	-0.7414	9	0.21540	T	0.41	.	3.2571	0.06835	0.1252:0.1625:0.5458:0.1666	.	1690;2179;2177;2178;2177	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7	.;.;MY18B_HUMAN;.;.	T	2177;2177;2178	ENSP00000441229:A2177T;ENSP00000334563:A2177T;ENSP00000386096:A2178T	ENSP00000334563:A2177T	A	+	1	0	MYO18B	24752469	0.003000	0.15002	0.251000	0.24312	0.037000	0.13140	0.962000	0.29280	1.194000	0.43101	0.591000	0.81541	GCC		0.527	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		19	67	19	67	---	---	---	---
XIST	7503	broad.mit.edu	37	X	73062517	73062517	+	lincRNA	SNP	C	C	T			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chrX:73062517C>T	ENST00000429829.1	-	0	10071					NR_001564.2				X inactive specific transcript (non-protein coding)																		AGAAGCAATGCGAAAGGAAGT	0.438																																						ENST00000429829.1																			0																				52.0	48.0	49.0					X																	73062517		876	1991	2867			7503							g.chrX:73062517C>T	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73062517C>T								NR_001564.2						0	10071	-									RNA	SNP	ENST00000429829.1	37																																																																																						0.438	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		4	9	4	9	---	---	---	---
CASZ1	54897	broad.mit.edu	37	1	10725511	10725511	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZG-A8QX-01A-11D-A377-08	TCGA-ZG-A8QX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e71e87aa-f13b-4617-9571-e24be01192e1	305709c9-bf5c-4706-b377-8030d49361e7	g.chr1:10725511delT	ENST00000377022.3	-	5	451	c.134delA	c.(133-135)gagfs	p.E45fs	CASZ1_ENST00000478728.2_5'UTR|CASZ1_ENST00000344008.5_Frame_Shift_Del_p.E45fs	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	45					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		AGCTCGCTTCTCCACCACCAC	0.721																																						ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(133-135)gagfs		castor zinc finger 1							21.0	26.0	24.0					1																	10725511		2151	4242	6393	SO:0001589	frameshift_variant	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10725511delT	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.134delA	1.37:g.10725511delT	ENSP00000366221:p.Glu45fs					CASZ1_ENST00000478728.2_5'UTR|CASZ1_ENST00000344008.5_Frame_Shift_Del_p.E45fs	p.E45fs	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	5	451	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	45					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Frame_Shift_Del	DEL	ENST00000377022.3	37	c.134delA	CCDS41246.1																																																																																				0.721	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		13	37	13	37	---	---	---	---
