#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
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_ENST00000393533.2_Silent_p.L99L|ODF2_ENST00000535026.1_Intron|ODF2_ENST00000393527.3_Silent_p.L75L|ODF2_ENST00000546203.1_Silent_p.L80L|ODF2_ENST00000448249.3_Intron|ODF2_ENST00000444119.2_Silent_p.L75L|ODF2_ENST00000351030.3_Silent_p.L94L|RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000372814.3_Silent_p.L143L|ODF2_ENST00000372807.5_Silent_p.L94L|ODF2_ENST00000372791.3_Silent_p.L80L|ODF2_ENST00000604420.1_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																																						ENST00000303890.5																			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.(223-225)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_ENST00000393533.2_Silent_p.L99L|ODF2_ENST00000372807.5_Silent_p.L94L|ODF2_ENST00000448249.3_Intron|ODF2_ENST00000444119.2_Silent_p.L75L|ODF2_ENST00000535026.1_Intron|ODF2_ENST00000546203.1_Silent_p.L80L|ODF2_ENST00000372791.3_Silent_p.L80L|ODF2_ENST00000351030.3_Silent_p.L94L|ODF2_ENST00000372814.3_Silent_p.L143L|ODF2_ENST00000372796.4_Silent_p.L99L|RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000434106.2_Silent_p.L99L	p.L75L	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN			7	808	+			99					B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Silent	SNP	ENST00000434106.3	37	c.223C>T	CCDS56588.1																																																																																				0.443	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			10	38	0	0	0	1	0	10	38				
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	0	0	0	1	0	18	39				
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_ENST00000587605.1_Silent_p.P310P|MBD1_ENST00000269468.5_Silent_p.P310P|MBD1_ENST00000382948.5_Silent_p.P310P|MBD1_ENST00000457839.2_Silent_p.P335P|MBD1_ENST00000347968.3_Silent_p.P310P|MBD1_ENST00000398488.1_Silent_p.P310P|MBD1_ENST00000353909.3_Silent_p.P261P|MBD1_ENST00000585595.1_Silent_p.P335P|MBD1_ENST00000436910.1_Intron|MBD1_ENST00000590208.1_Silent_p.P310P|MBD1_ENST00000269471.5_Intron|MBD1_ENST00000591535.1_Intron|MBD1_ENST00000398495.2_Silent_p.P335P|MBD1_ENST00000588937.1_Intron|MBD1_ENST00000349085.2_Silent_p.P310P|MBD1_ENST00000585672.1_Silent_p.P261P|MBD1_ENST00000339998.6_Silent_p.P310P|MBD1_ENST00000398493.1_Silent_p.P310P|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_ENST00000591535.1_Intron|MBD1_ENST00000398488.1_Silent_p.P310P|MBD1_ENST00000590208.1_Silent_p.P310P|MBD1_ENST00000585672.1_Silent_p.P261P|MBD1_ENST00000588937.1_Intron|MBD1_ENST00000585595.1_Silent_p.P335P|MBD1_ENST00000457839.2_Silent_p.P335P|MBD1_ENST00000436910.1_Intron|MBD1_ENST00000424334.2_Silent_p.P361P|MBD1_ENST00000587605.1_Silent_p.P310P|MBD1_ENST00000398493.1_Silent_p.P310P|MBD1_ENST00000398495.2_Silent_p.P335P|MBD1_ENST00000382948.5_Silent_p.P310P|MBD1_ENST00000353909.3_Silent_p.P261P|MBD1_ENST00000349085.2_Silent_p.P310P|MBD1_ENST00000347968.3_Silent_p.P310P|MBD1_ENST00000339998.6_Silent_p.P310P|MBD1_ENST00000269468.5_Silent_p.P310P|MBD1_ENST00000269471.5_Intron	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	0	0	0	1	0	7	30				
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_ENST00000255325.6_Silent_p.R85R|RNF17_ENST00000381921.1_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_ENST00000255325.5_Silent_p.R85R|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_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	0	0	0	1	0	5	26				
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_ENST00000390651.4_Silent_p.G196G|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000243639.4_3'UTR|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_ENST00000396409.4_Silent_p.G196G|ZNF468_ENST00000390651.4_Silent_p.G196G|ZNF468_ENST00000243639.4_3'UTR	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	0	0	0	1	0	12	45				
IGHG1	3500	broad.mit.edu	37	14	106207973	106207973	+	RNA	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.chr14:106207973G>A	ENST00000390548.2	-	0	829							P01857	IGHG1_HUMAN	immunoglobulin heavy constant gamma 1 (G1m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										CACGGGAGGCGTGGTCTTGTA	0.602																																						ENST00000390548.2																			0																				153.0	114.0	127.0					14																	106207973		2011	4149	6160			0							g.chr14:106207973G>A	J00228		14q32.33	2012-10-02			ENSG00000211896	ENSG00000211896		"""Immunoglobulins / IGH locus"""	5525	other	immunoglobulin gene		147100					Standard	NG_001019		Approved		uc001yse.3	P01857	OTTHUMG00000152495		14.37:g.106207973G>A														0	829	-									RNA	SNP	ENST00000390548.2	37																																																																																						0.602	IGHG1-002	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	IG_C_gene	IG_C_gene	OTTHUMT00000326504.1	NG_001019		24	76	0	0	0	1	0	24	76				
SDHAP1	255812	broad.mit.edu	37	3	195701278	195701278	+	RNA	SNP	C	C	T	rs200131790	byFrequency	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.chr3:195701278C>T	ENST00000427841.1	-	0	1546					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		CAGGCCTGCACGACTCTGCGA	0.537																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195701278C>T	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195701278C>T								NR_003264.2						0	1546	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.537	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			3	17	0	0	0	1	0	3	17				
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_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Splice_Site|PCDH15_ENST00000395432.2_Splice_Site|PCDH15_ENST00000395446.1_Splice_Site|PCDH15_ENST00000373965.2_Splice_Site|PCDH15_ENST00000437009.1_Splice_Site|PCDH15_ENST00000395433.1_Splice_Site|PCDH15_ENST00000409834.1_Splice_Site|PCDH15_ENST00000395430.1_Splice_Site|PCDH15_ENST00000373957.3_Splice_Site|PCDH15_ENST00000395438.1_Splice_Site|PCDH15_ENST00000373955.1_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_ENST00000414778.1_Splice_Site|PCDH15_ENST00000395432.2_Splice_Site|PCDH15_ENST00000320301.6_Splice_Site|PCDH15_ENST00000395433.1_Splice_Site|PCDH15_ENST00000395440.1_Splice_Site|PCDH15_ENST00000395430.1_Splice_Site|PCDH15_ENST00000373955.1_Splice_Site|PCDH15_ENST00000395438.1_Splice_Site|PCDH15_ENST00000361849.3_Splice_Site|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Splice_Site|PCDH15_ENST00000409834.1_Splice_Site|PCDH15_ENST00000395445.1_Splice_Site|PCDH15_ENST00000437009.1_Splice_Site|PCDH15_ENST00000373957.3_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	0	0	0	1	0	12	26				
MACF1	23499	broad.mit.edu	37	1	39924848	39924848	+	Missense_Mutation	SNP	G	G	A	rs376254871		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.chr1:39924848G>A	ENST00000372915.3	+	90	21071	c.20984G>A	c.(20983-20985)cGc>cAc	p.R6995H	MACF1_ENST00000539005.1_Missense_Mutation_p.R4907H|MACF1_ENST00000361689.2_Missense_Mutation_p.R5037H|MACF1_ENST00000289893.4_Missense_Mutation_p.R5539H|MACF1_ENST00000567887.1_Missense_Mutation_p.R7133H|MACF1_ENST00000545844.1_Missense_Mutation_p.R5037H|MACF1_ENST00000564288.1_Missense_Mutation_p.R7096H|MACF1_ENST00000317713.7_Missense_Mutation_p.R5037H			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6995					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTTTCTGCCCGCTGGCAGCAG	0.542																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(21286-21288)cGc>cAc		microtubule-actin crosslinking factor 1							82.0	78.0	80.0					1																	39924848		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39924848G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.20984G>A	1.37:g.39924848G>A	ENSP00000362006:p.Arg6995His					MACF1_ENST00000545844.1_Missense_Mutation_p.R5037H|MACF1_ENST00000567887.1_Missense_Mutation_p.R7133H|MACF1_ENST00000289893.4_Missense_Mutation_p.R5539H|MACF1_ENST00000372915.3_Missense_Mutation_p.R6995H|MACF1_ENST00000539005.1_Missense_Mutation_p.R4907H|MACF1_ENST00000317713.7_Missense_Mutation_p.R5037H|MACF1_ENST00000361689.2_Missense_Mutation_p.R5037H	p.R7096H			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		91	22064	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	6995			EF-hand 2.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.21287G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.226099|5.226099	0.95173|0.95173	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000360115|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.66099	.|-0.19;1.03;-0.19;0.35;-0.02;1.03	5.97|5.97	5.97|5.97	0.96955|0.96955	.|.	.|0.000000	.|0.64402	.|D	.|0.000014	T|T	0.75117|0.75117	0.3806|0.3806	L|L	0.47190|0.47190	1.495|1.495	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.73708	.|0.981;0.966	T|T	0.70619|0.70619	-0.4822|-0.4822	5|9	.|.	.|.	.|.	.|.	20.4135|20.4135	0.99023|0.99023	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|6995;5037	.|Q9UPN3;F8W8Q1	.|MACF1_HUMAN;.	T|H	139|5037;6995;5037;5037;4907;5539	.|ENSP00000439537:R5037H;ENSP00000362006:R6995H;ENSP00000354573:R5037H;ENSP00000313438:R5037H;ENSP00000444364:R4907H;ENSP00000289893:R5539H	.|.	A|R	+|+	1|2	0|0	MACF1|MACF1	39697435|39697435	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.852000|7.852000	0.86927|0.86927	2.835000|2.835000	0.97688|0.97688	0.591000|0.591000	0.81541|0.81541	GCT|CGC		0.542	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		3	44	0	0	0	1	0	3	44				
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	ZNF285_ENST00000544719.2_Missense_Mutation_p.Q143R|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.Q150R	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_ENST00000591679.1_Missense_Mutation_p.Q150R|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.Q143R	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	0	0	0	1	0	26	104				
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	0	0	0	1	0	4	237				
FAF1	11124	broad.mit.edu	37	1	50957466	50957466	+	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.chr1:50957466C>T	ENST00000396153.2	-	16	1953	c.1502G>A	c.(1501-1503)cGt>cAt	p.R501H	FAF1_ENST00000545823.1_Missense_Mutation_p.R259H|FAF1_ENST00000371778.4_Missense_Mutation_p.R501H	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	501					apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		TCTGGCTTCACGTTCATCCTT	0.348																																						ENST00000396153.2																			0				breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24						c.(1501-1503)cGt>cAt		Fas (TNFRSF6) associated factor 1							132.0	122.0	125.0					1																	50957466		2203	4300	6503	SO:0001583	missense	11124				apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	g.chr1:50957466C>T	AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"""UBX domain containing"""	3578	protein-coding gene	gene with protein product	"""TNFRSF6-associated factor 1"", ""UBX domain protein 3A"""	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.1502G>A	1.37:g.50957466C>T	ENSP00000379457:p.Arg501His					FAF1_ENST00000545823.1_Missense_Mutation_p.R259H|FAF1_ENST00000371778.4_Missense_Mutation_p.R501H	p.R501H	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN		GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)	16	1953	-			501					Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Missense_Mutation	SNP	ENST00000396153.2	37	c.1502G>A	CCDS554.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.816728	0.90790	.	.	ENSG00000185104	ENST00000396153;ENST00000371778;ENST00000545823;ENST00000371780;ENST00000543607	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.83128	0.5187	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.84382	0.0550	9	0.72032	D	0.01	-19.2027	19.3878	0.94565	0.0:1.0:0.0:0.0	.	259;501	B4DEJ6;Q9UNN5	.;FAF1_HUMAN	H	501;501;259;341;349	.	ENSP00000360843:R501H	R	-	2	0	FAF1	50730054	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.386000	0.73186	2.676000	0.91093	0.556000	0.70494	CGT		0.348	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021807.1	NM_007051		14	48	0	0	0	1	0	14	48				
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_ENST00000323076.2_Missense_Mutation_p.S7P|LCP1_ENST00000460190.1_5'UTR			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_ENST00000460190.1_5'UTR|LCP1_ENST00000323076.2_Missense_Mutation_p.S7P	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	0	0	0	1	0	10	39				
FRG1B	284802	broad.mit.edu	37	20	29625895	29625895	+	Missense_Mutation	SNP	G	G	A	rs76435412	byFrequency	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.chr20:29625895G>A	ENST00000278882.3	+	5	519	c.139G>A	c.(139-141)Gga>Aga	p.G47R	FRG1B_ENST00000439954.2_Missense_Mutation_p.G52R|FRG1B_ENST00000358464.4_Missense_Mutation_p.G47R			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	47										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATCTGGCTATGGAAAATATCT	0.343																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(139-141)Gga>Aga																																						SO:0001583	missense	0							g.chr20:29625895G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.139G>A	20.37:g.29625895G>A	ENSP00000278882:p.Gly47Arg					FRG1B_ENST00000358464.4_Missense_Mutation_p.G47R|FRG1B_ENST00000439954.2_Missense_Mutation_p.G52R	p.G47R							5	519	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.139G>A		.	.	.	.	.	.	.	.	.	.	g	11.07	1.529986	0.27387	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.59502	0.26	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.53690	0.1812	.	.	.	0.58432	D	0.999996	P	0.36412	0.552	B	0.41894	0.369	T	0.59820	-0.7382	9	0.87932	D	0	.	9.3557	0.38164	0.0:0.0:1.0:0.0	.	52	F5H5R5	.	R	47;52;47	ENSP00000408863:G52R	ENSP00000278882:G47R	G	+	1	0	FRG1B	28239556	1.000000	0.71417	1.000000	0.80357	0.038000	0.13279	8.114000	0.89570	1.250000	0.43966	0.184000	0.17185	GGA		0.343	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	57	0	0	0	1	0	4	57				
PIP5K1C	23396	broad.mit.edu	37	19	3653333	3653333	+	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.chr19:3653333G>A	ENST00000335312.3	-	7	964	c.876C>T	c.(874-876)gcC>gcT	p.A292A	PIP5K1C_ENST00000537021.1_Silent_p.A292A|PIP5K1C_ENST00000539785.1_Silent_p.A292A|PIP5K1C_ENST00000589578.1_Silent_p.A292A|PIP5K1C_ENST00000587482.1_5'UTR	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	292	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		TGAAGGTGTCGGCGTCCAGCA	0.672																																					Esophageal Squamous(135;99 1744 12852 27186 39851)	ENST00000335312.3																			0				large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9						c.(874-876)gcC>gcT		phosphatidylinositol-4-phosphate 5-kinase, type I, gamma							54.0	34.0	41.0					19																	3653333		2203	4300	6503	SO:0001819	synonymous_variant	23396				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	g.chr19:3653333G>A	AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111			8996	protein-coding gene	gene with protein product		606102				9535851	Standard	NM_001195733		Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000335312.3:c.876C>T	19.37:g.3653333G>A						PIP5K1C_ENST00000589578.1_Silent_p.A292A|PIP5K1C_ENST00000587482.1_5'UTR|PIP5K1C_ENST00000539785.1_Silent_p.A292A|PIP5K1C_ENST00000537021.1_Silent_p.A292A	p.A292A	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)	7	964	-		Hepatocellular(1079;0.137)	292			PIPK.		B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Silent	SNP	ENST00000335312.3	37	c.876C>T	CCDS32872.1																																																																																				0.672	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453432.2	NM_012398		5	18	0	0	0	1	0	5	18				
NR4A2	4929	broad.mit.edu	37	2	157182776	157182776	+	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.chr2:157182776C>T	ENST00000339562.4	-	7	1788	c.1426G>A	c.(1426-1428)Gtt>Att	p.V476I	NR4A2_ENST00000409572.1_Missense_Mutation_p.V476I|NR4A2_ENST00000539077.1_Missense_Mutation_p.V487I|NR4A2_ENST00000429376.1_Intron|NR4A2_ENST00000409108.2_Intron|NR4A2_ENST00000426264.1_Missense_Mutation_p.V413I	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	476					adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						AAGCCACGAACGCATTGCAAC	0.463																																						ENST00000339562.4																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						c.(1426-1428)Gtt>Att		nuclear receptor subfamily 4, group A, member 2							116.0	92.0	100.0					2																	157182776		2203	4300	6503	SO:0001583	missense	0				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr2:157182776C>T	X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"""Nuclear hormone receptors"""	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.1426G>A	2.37:g.157182776C>T	ENSP00000344479:p.Val476Ile					NR4A2_ENST00000409108.2_Intron|NR4A2_ENST00000429376.1_Intron|NR4A2_ENST00000409572.1_Missense_Mutation_p.V476I|NR4A2_ENST00000426264.1_Missense_Mutation_p.V413I|NR4A2_ENST00000539077.1_Missense_Mutation_p.V487I	p.V476I	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN			7	1788	-			476					Q16311|Q53RZ2|Q6NXU0	Missense_Mutation	SNP	ENST00000339562.4	37	c.1426G>A	CCDS2201.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.644013	0.29246	.	.	ENSG00000153234	ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077	D;D;D;D	0.96587	-4.06;-4.06;-4.06;-4.06	5.63	5.63	0.86233	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.663319	0.16896	N	0.195101	D	0.93038	0.7784	L	0.41961	1.31	0.80722	D	1	B	0.28820	0.224	B	0.17098	0.017	D	0.89901	0.4044	10	0.18276	T	0.48	.	15.1798	0.72947	0.0:0.9305:0.0:0.0695	.	476	P43354	NR4A2_HUMAN	I	476;413;476;487	ENSP00000344479:V476I;ENSP00000389986:V413I;ENSP00000386747:V476I;ENSP00000444925:V487I	ENSP00000344479:V476I	V	-	1	0	NR4A2	156891022	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.920000	0.70017	2.814000	0.96858	0.563000	0.77884	GTT		0.463	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2			9	18	0	0	0	1	0	9	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_ENST00000609810.1_Missense_Mutation_p.A162P|HOXC4_ENST00000303406.4_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	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	0	0	0	1	0	7	22				
CENPC	1060	broad.mit.edu	37	4	68358586	68358586	+	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.chr4:68358586C>T	ENST00000273853.6	-	15	2670		c.e15+1			NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C						chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	centromeric DNA binding (GO:0019237)|DNA binding (GO:0003677)										TAAGTTCATACTTCTTTCATC	0.279																																						ENST00000273853.6																			0											c.e15+1		centromere protein C							68.0	58.0	61.0					4																	68358586		1785	4041	5826	SO:0001630	splice_region_variant	1060							g.chr4:68358586C>T	M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241			1854	protein-coding gene	gene with protein product		117141	"""centromere protein C 1"""	CENPC1		7959789	Standard	XR_245245		Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.2419+1G>A	4.37:g.68358586C>T								NM_001812.2	NP_001803.2					15	2670	-								Q8IW27|Q9P0M5	Splice_Site	SNP	ENST00000273853.6	37		CCDS47063.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.556119	0.45487	.	.	ENSG00000145241	ENST00000273853	.	.	.	4.01	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9395	0.52892	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CENPC1	68041181	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	1.175000	0.31944	2.509000	0.84616	0.655000	0.94253	.		0.279	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362001.2		Intron	4	8	0	0	0	1	0	4	8				
DISC1	27185	broad.mit.edu	37	1	232144702	232144702	+	Silent	SNP	C	C	T	rs565912178		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.chr1:232144702C>T	ENST00000439617.2	+	11	2267	c.2214C>T	c.(2212-2214)tcC>tcT	p.S738S	DISC1_ENST00000366637.3_Silent_p.S70S|DISC1_ENST00000535983.1_3'UTR|DISC1_ENST00000427560.1_3'UTR|DISC1_ENST00000537876.1_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	738	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)				GGCTCCACTCCGAGGATAAAA	0.532													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17637	0.0		0.0	False		,,,				2504	0.0					ENST00000439617.2																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						c.(2212-2214)tcC>tcT		disrupted in schizophrenia 1							64.0	64.0	64.0					1																	232144702		1905	4136	6041	SO:0001819	synonymous_variant	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.chr1:232144702C>T	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.2214C>T	1.37:g.232144702C>T						DISC1_ENST00000537876.1_3'UTR|DISC1_ENST00000366637.3_Silent_p.S70S|DISC1_ENST00000427560.1_3'UTR|DISC1_ENST00000535983.1_3'UTR	p.S738S	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN			11	2267	+		all_cancers(173;0.0208)|Prostate(94;0.0975)	738			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	Silent	SNP	ENST00000439617.2	37	c.2214C>T		.	.	.	.	.	.	.	.	.	.	C	3.574	-0.087097	0.07097	.	.	ENSG00000162946	ENST00000422590	.	.	.	4.72	-6.16	0.02098	.	.	.	.	.	T	0.26484	0.0647	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28964	-1.0027	4	.	.	.	0.2436	7.1356	0.25527	0.1351:0.2661:0.0:0.5989	.	.	.	.	L	141	.	.	P	+	2	0	DISC1	230211325	0.031000	0.19500	0.000000	0.03702	0.000000	0.00434	-0.735000	0.04888	-1.627000	0.01550	-0.827000	0.03088	CCG		0.532	DISC1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000092351.2	NM_018662		6	8	0	0	0	1	0	6	8				
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_078958.2	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	0	0	0	1	0	10	39				
WDR70	55100	broad.mit.edu	37	5	37725056	37725056	+	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.chr5:37725056C>T	ENST00000265107.4	+	16	1774	c.1618C>T	c.(1618-1620)Cgt>Tgt	p.R540C		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	540							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCCTATGTTCCGTGAGCCCCG	0.458																																						ENST00000265107.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1618-1620)Cgt>Tgt		WD repeat domain 70							140.0	145.0	143.0					5																	37725056		2203	4300	6503	SO:0001583	missense	55100							g.chr5:37725056C>T	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.1618C>T	5.37:g.37725056C>T	ENSP00000265107:p.Arg540Cys						p.R540C	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		16	1774	+	all_lung(31;0.000285)		540					Q9H053	Missense_Mutation	SNP	ENST00000265107.4	37	c.1618C>T	CCDS34147.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.128573	0.77549	.	.	ENSG00000082068	ENST00000265107	T	0.71222	-0.55	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.85371	0.5681	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	D	0.86923	0.2068	10	0.66056	D	0.02	-36.0439	15.1548	0.72733	0.1411:0.8589:0.0:0.0	.	540	Q9NW82	WDR70_HUMAN	C	540	ENSP00000265107:R540C	ENSP00000265107:R540C	R	+	1	0	WDR70	37760813	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.405000	0.52630	2.827000	0.97445	0.650000	0.86243	CGT		0.458	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		25	76	0	0	0	1	0	25	76				
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	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_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	0							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					PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_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	1	0	3.86212e-05	1	3.86212e-05	11	28				
BAGE2	85319	broad.mit.edu	37	21	11058330	11058330	+	RNA	SNP	G	G	A	rs138162498		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.chr21:11058330G>A	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATCGCTGAAAGGGGTAAAGGA	0.378																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							72.0	55.0	60.0					21																	11058330		692	1591	2283			85319							g.chr21:11058330G>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058330G>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.378	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		7	133	0	0	0	1	0	7	133				
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_ENST00000312049.6_Missense_Mutation_p.D172E|MEN1_ENST00000394376.1_Missense_Mutation_p.D177E|MEN1_ENST00000377326.3_Missense_Mutation_p.D172E|MEN1_ENST00000443283.1_Missense_Mutation_p.D177E|MEN1_ENST00000478548.1_5'Flank|MEN1_ENST00000394374.2_Missense_Mutation_p.D177E|MEN1_ENST00000377313.1_Missense_Mutation_p.D177E|MEN1_ENST00000377321.1_Missense_Mutation_p.D172E|MEN1_ENST00000377316.2_Missense_Mutation_p.D172E|MEN1_ENST00000315422.4_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	0	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_ENST00000315422.4_Missense_Mutation_p.D172E|MEN1_ENST00000394374.2_Missense_Mutation_p.D177E|MEN1_ENST00000377316.2_Missense_Mutation_p.D172E|MEN1_ENST00000394376.1_Missense_Mutation_p.D177E|MEN1_ENST00000443283.1_Missense_Mutation_p.D177E|MEN1_ENST00000377313.1_Missense_Mutation_p.D177E|MEN1_ENST00000377326.3_Missense_Mutation_p.D172E|MEN1_ENST00000312049.6_Missense_Mutation_p.D172E|MEN1_ENST00000377321.1_Missense_Mutation_p.D172E	p.D177E	NM_130803.2	NP_570715.1	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	0	0	0	1	0	8	18				
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_ENST00000504102.1_Missense_Mutation_p.Y87N|SPOP_ENST00000347630.2_Missense_Mutation_p.Y87N|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000503676.1_Missense_Mutation_p.Y87N|SPOP_ENST00000393331.3_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_ENST00000503676.1_Missense_Mutation_p.Y87N|SPOP_ENST00000393328.2_Missense_Mutation_p.Y87N|SPOP_ENST00000347630.2_Missense_Mutation_p.Y87N|SPOP_ENST00000504102.1_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	0	0	0	1	0	19	55				
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			0							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	0	0	0	1	0	4	9				
HEG1	57493	broad.mit.edu	37	3	124731806	124731806	+	Missense_Mutation	SNP	C	C	T	rs200683806	byFrequency	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.chr3:124731806C>T	ENST00000311127.4	-	6	2684	c.2617G>A	c.(2617-2619)Gta>Ata	p.V873I	HEG1_ENST00000477536.1_5'Flank	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	873					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GTAGTCTGTACGGCTATAGGG	0.498													C|||	2	0.000399361	0.0015	0.0	5008	,	,		24604	0.0		0.0	False		,,,				2504	0.0					ENST00000311127.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						c.(2617-2619)Gta>Ata		heart development protein with EGF-like domains 1		C	ILE/VAL	6,4042		0,6,2018	154.0	153.0	153.0		2617	2.7	0.0	3		153	0,8396		0,0,4198	yes	missense	HEG1	NM_020733.1	29	0,6,6216	TT,TC,CC		0.0,0.1482,0.0482	benign	873/1382	124731806	6,12438	2024	4198	6222	SO:0001583	missense	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124731806C>T	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.2617G>A	3.37:g.124731806C>T	ENSP00000311502:p.Val873Ile						p.V873I	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN			6	2684	-			873					Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	c.2617G>A	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	C	7.332	0.619105	0.14129	0.001482	0.0	ENSG00000173706	ENST00000311127	D	0.88741	-2.42	4.54	2.72	0.32119	.	0.226336	0.21659	U	0.071058	D	0.85270	0.5658	L	0.55481	1.735	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.09377	0.004;0.002	T	0.74475	-0.3653	10	0.49607	T	0.09	.	11.6477	0.51271	0.0:0.8446:0.0:0.1554	.	873;873	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	I	873	ENSP00000311502:V873I	ENSP00000311502:V873I	V	-	1	0	HEG1	126214496	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.037000	0.12164	0.264000	0.21851	-2.069000	0.00389	GTA		0.498	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		4	95	0	0	0	1	0	4	95				
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)	ENST00000264065.6																			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	+			634			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	0	0	0	1	0	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_ENST00000414961.2_3'UTR|SPAG16_ENST00000374309.3_Intron|SPAG16_ENST00000447990.1_Missense_Mutation_p.M120I|SPAG16_ENST00000413312.1_Missense_Mutation_p.M89I|SPAG16_ENST00000432529.2_Missense_Mutation_p.M120I|SPAG16_ENST00000272898.7_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_ENST00000272898.7_Missense_Mutation_p.M120I|SPAG16_ENST00000414961.2_3'UTR|SPAG16_ENST00000374309.3_Intron|SPAG16_ENST00000447990.1_Missense_Mutation_p.M120I|SPAG16_ENST00000331683.5_Missense_Mutation_p.M120I|SPAG16_ENST00000432529.2_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	0	0	0	1	0	7	41				
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_ENST00000407587.2_Missense_Mutation_p.A2178T|MYO18B_ENST00000536101.1_Missense_Mutation_p.A2177T	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	0	0	0	1	0	19	67				
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_ENST00000366637.3_Missense_Mutation_p.E71G|DISC1_ENST00000535983.1_3'UTR|DISC1_ENST00000427560.1_3'UTR|DISC1_ENST00000537876.1_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_ENST00000537876.1_3'UTR|DISC1_ENST00000366637.3_Missense_Mutation_p.E71G|DISC1_ENST00000427560.1_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	0	0	0	1	0	5	10				
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_ENST00000341723.4_Missense_Mutation_p.P285L|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.P320L|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.P285L	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_ENST00000440868.1_Missense_Mutation_p.P285L|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.P320L|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.P285L	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	0	0	0	1	0	18	48				
CLEC3A	10143	broad.mit.edu	37	16	78064471	78064471	+	Silent	SNP	C	C	T	rs370712626		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.chr16:78064471C>T	ENST00000575655.1	+	3	408	c.327C>T	c.(325-327)gaC>gaT	p.D109D	RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000565808.1_3'UTR|CLEC3A_ENST00000299642.4_Silent_p.D118D	NM_005752.4	NP_005743.4	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	109	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				skeletal system development (GO:0001501)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						GGAACTCCGACGAAATCAACG	0.478																																						ENST00000299642.4																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						c.(352-354)gaC>gaT		C-type lectin domain family 3, member A		C		0,4396		0,0,2198	78.0	70.0	73.0		327	-5.4	0.5	16		73	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CLEC3A	NM_005752.4		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		109/198	78064471	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	10143				skeletal system development	extracellular region	sugar binding	g.chr16:78064471C>T	AF077345	CCDS10927.1, CCDS10927.2	16q23	2008-02-05	2005-02-09	2005-02-11	ENSG00000166509	ENSG00000166509		"""C-type lectin domain containing"""	2052	protein-coding gene	gene with protein product		613588	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 1 (cartilage-derived)"""	CLECSF1		10524194	Standard	NM_001244755		Approved		uc002ffh.5	O75596	OTTHUMG00000137620	ENST00000575655.1:c.327C>T	16.37:g.78064471C>T						CLEC3A_ENST00000565808.1_3'UTR|RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000575655.1_Silent_p.D109D	p.D118D	NM_001244755.1	NP_001231684.1	O75596	CLC3A_HUMAN			3	439	+			109			C-type lectin.		B2R8C4|Q3SX91|Q6UXF5	Silent	SNP	ENST00000575655.1	37	c.354C>T																																																																																					0.478	CLEC3A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005752		7	41	0	0	0	1	0	7	41				
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	0	0	0	1	0	5	12				
MACROD2	140733	broad.mit.edu	37	20	15918144	15918144	+	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.chr20:15918144C>T	ENST00000310348.4	+	12	862	c.862C>T	c.(862-864)Ccc>Tcc	p.P288S	MACROD2_ENST00000402914.1_Missense_Mutation_p.P53S|MACROD2_ENST00000378058.3_Missense_Mutation_p.P53S|MACROD2_ENST00000217246.4_Missense_Mutation_p.P288S			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	288	Glu-rich.				brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				TGTCACTGTGCCCGGCCCTGC	0.458																																						ENST00000217246.4																			0				breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20						c.(862-864)Ccc>Tcc		MACRO domain containing 2							132.0	136.0	135.0					20																	15918144		2203	4300	6503	SO:0001583	missense	140733							g.chr20:15918144C>T	BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"""chromosome 20 open reading frame 133"""	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.862C>T	20.37:g.15918144C>T	ENSP00000309809:p.Pro288Ser					MACROD2_ENST00000310348.4_Missense_Mutation_p.P288S|MACROD2_ENST00000402914.1_Missense_Mutation_p.P53S|MACROD2_ENST00000378058.3_Missense_Mutation_p.P53S	p.P288S	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN			12	1257	+		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)	288			Glu-rich.		A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	ENST00000310348.4	37	c.862C>T	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	C	16.55	3.153652	0.57259	.	.	ENSG00000172264	ENST00000217246;ENST00000310348;ENST00000402914;ENST00000378058	T;T;T;T	0.55760	2.34;2.33;0.5;0.5	5.91	2.9	0.33743	.	0.578448	0.15818	N	0.243145	T	0.44117	0.1278	L	0.56769	1.78	0.20703	N	0.999869	B;B	0.20261	0.025;0.043	B;B	0.17098	0.008;0.017	T	0.36359	-0.9751	10	0.38643	T	0.18	1.2459	5.1559	0.15034	0.1658:0.6648:0.0:0.1695	.	288;288	A1Z1Q3;A1Z1Q3-2	MACD2_HUMAN;.	S	288;288;53;53	ENSP00000217246:P288S;ENSP00000309809:P288S;ENSP00000385290:P53S;ENSP00000367297:P53S	ENSP00000217246:P288S	P	+	1	0	MACROD2	15866144	0.052000	0.20516	0.095000	0.20976	0.087000	0.18053	0.174000	0.16743	0.380000	0.24823	0.650000	0.86243	CCC		0.458	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676		7	80	0	0	0	1	0	7	80				
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	0	0	0	1	0	24	96				
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_ENST00000472232.3_Missense_Mutation_p.K189I|BAG1_ENST00000379704.2_Missense_Mutation_p.K74I|CHMP5_ENST00000419016.2_5'Flank|BAG1_ENST00000467389.2_5'Flank	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_004314.5	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	0	0	0	1	0	5	25				
GFAP	2670	broad.mit.edu	37	17	42992620	42992620	+	Missense_Mutation	SNP	G	G	A	rs59793293		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.chr17:42992620G>A	ENST00000253408.5	-	1	300	c.235C>T	c.(235-237)Cgc>Tgc	p.R79C	GFAP_ENST00000435360.2_Missense_Mutation_p.R79C|GFAP_ENST00000586793.1_Missense_Mutation_p.R79C|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000591327.1_5'UTR	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	79	Coil 1A.|Rod.		R -> C (in ALEXD; dbSNP:rs59793293). {ECO:0000269|PubMed:11138011, ECO:0000269|PubMed:12034785, ECO:0000269|PubMed:15732097, ECO:0000269|PubMed:17894839, ECO:0000269|PubMed:23364391}.|R -> G (in ALEXD). {ECO:0000269|PubMed:12034785}.|R -> H (in ALEXD; dbSNP:rs59285727). {ECO:0000269|PubMed:11138011, ECO:0000269|PubMed:11567214, ECO:0000269|PubMed:12034785, ECO:0000269|PubMed:23364391}.|R -> L (in ALEXD). {ECO:0000269|PubMed:12581808, ECO:0000269|PubMed:23364391}.|R -> P (in ALEXD). {ECO:0000269|PubMed:17894839}.		astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				CTGGCAAAGCGGTCATTGAGC	0.607																																						ENST00000253408.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23	GRCh37	CM010047|CM023072	GFAP	M	rs59793293	c.(235-237)Cgc>Tgc		glial fibrillary acidic protein							73.0	60.0	65.0					17																	42992620		2203	4300	6503	SO:0001583	missense	2670					cytoplasm|intermediate filament	structural constituent of cytoskeleton	g.chr17:42992620G>A	S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"""Intermediate filaments type III"""	4235	protein-coding gene	gene with protein product	"""intermediate filament protein"""	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.235C>T	17.37:g.42992620G>A	ENSP00000253408:p.Arg79Cys					GFAP_ENST00000435360.2_Missense_Mutation_p.R79C|GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Missense_Mutation_p.R79C	p.R79C	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN			1	300	-		Prostate(33;0.0959)	79		R -> C (in ALEXD; dbSNP:rs59793293).|R -> H (in ALEXD; dbSNP:rs59285727).	Coil 1A.|Rod.		B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Missense_Mutation	SNP	ENST00000253408.5	37	c.235C>T	CCDS11491.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900383	0.72754	.	.	ENSG00000131095	ENST00000253408;ENST00000421021;ENST00000435360;ENST00000376990	D;D;D	0.94138	-3.36;-3.36;-3.36	4.82	3.85	0.44370	Filament (1);	0.000000	0.85682	D	0.000000	D	0.96623	0.8898	M	0.91406	3.205	0.80722	A	1	D;P	0.89917	1.0;0.466	D;P	0.73380	0.98;0.504	D	0.98323	1.0529	9	0.87932	D	0	.	8.3408	0.32243	0.0796:0.0:0.7671:0.1534	rs59793293	79;79	E9PAX3;P14136	.;GFAP_HUMAN	C	79;54;79;79	ENSP00000253408:R79C;ENSP00000403962:R79C;ENSP00000366189:R79C	ENSP00000253408:R79C	R	-	1	0	GFAP	40348146	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.615000	0.83006	1.405000	0.46838	0.561000	0.74099	CGC		0.607	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	NM_002055		5	51	0	0	0	1	0	5	51				
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)ggfs		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_ENST00000344008.5_Frame_Shift_Del_p.E45fs|CASZ1_ENST00000478728.2_5'UTR	p.E45fs	NM_001079843.1	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	---	---	---	---
RP11-608O21.1	0	broad.mit.edu	37	4	19815895	19815896	+	lincRNA	DEL	AA	AA	-			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.chr4:19815895_19815896delAA	ENST00000511431.1	+	0	288																											TCTGGGCTGTaaaaaaaaaaaa	0.411																																						ENST00000511431.1																			0																																																			0							g.chr4:19815895_19815896delAA																													4.37:g.19815905_19815906delAA														0	288	+									RNA	DEL	ENST00000511431.1	37																																																																																						0.411	RP11-608O21.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000359397.1			5	6						5	6	---	---	---	---
ROBO3	64221	broad.mit.edu	37	11	124750448	124750453	+	In_Frame_Del	DEL	CGGAGT	CGGAGT	-	rs55725290|rs56085444|rs71859853	byFrequency	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.chr11:124750448_124750453delCGGAGT	ENST00000397801.1	+	27	4285_4290	c.4093_4098delCGGAGT	c.(4093-4098)cggagtdel	p.RS1367del	ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del|ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1367					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TGgccggagccggagtcggagtcaga	0.66														2107	0.420727	0.6664	0.2392	5008	,	,		17575	0.378		0.2883	False		,,,				2504	0.3978					ENST00000397801.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(4093-4098)del		roundabout, axon guidance receptor, homolog 3 (Drosophila)				2069,1609		709,651,479						2.4	1.0		dbSNP_130	17	1833,5925		332,1169,2378	no	coding	ROBO3	NM_022370.3		1041,1820,2857	A1A1,A1R,RR		23.6272,43.7466,34.1203				3902,7534				SO:0001651	inframe_deletion	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124750448_124750453delCGGAGT	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.4093_4098delCGGAGT	11.37:g.124750454_124750459delCGGAGT	ENSP00000380903:p.Arg1367_Ser1368del					ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del|ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del|ROBO3_ENST00000525482.1_3'UTR	p.RS1367del	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	27	4285_4290	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	1367						In_Frame_Del	DEL	ENST00000397801.1	37	c.4093_4098delCGGAGT	CCDS44755.1																																																																																				0.660	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		2	4						2	4	---	---	---	---
