#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
ANGEL2	90806	broad.mit.edu	37	1	213178772	213178772	+	Missense_Mutation	SNP	C	C	A	rs373606563		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:213178772C>A	ENST00000366962.3	-	5	891	c.737G>T	c.(736-738)cGg>cTg	p.R246L	ANGEL2_ENST00000360506.2_Missense_Mutation_p.R77L|ANGEL2_ENST00000535388.1_Missense_Mutation_p.R77L|ANGEL2_ENST00000544555.1_Missense_Mutation_p.R77L|ANGEL2_ENST00000540642.1_Missense_Mutation_p.R120L	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	246								p.R246L(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		CCTTCCTGTCCGCATCTTATA	0.363																																						ENST00000366962.3																			1	Substitution - Missense(1)	p.R246L(1)	lung(1)	central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24						c.(736-738)cGg>cTg		angel homolog 2 (Drosophila)							96.0	102.0	100.0					1																	213178772		2195	4299	6494	SO:0001583	missense	90806							g.chr1:213178772C>A	AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.737G>T	1.37:g.213178772C>A	ENSP00000355929:p.Arg246Leu					ANGEL2_ENST00000535388.1_Missense_Mutation_p.R77L|ANGEL2_ENST00000540642.1_Missense_Mutation_p.R120L|ANGEL2_ENST00000360506.2_Missense_Mutation_p.R77L|ANGEL2_ENST00000544555.1_Missense_Mutation_p.R77L	p.R246L	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)	5	891	-			246					B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Missense_Mutation	SNP	ENST00000366962.3	37	c.737G>T	CCDS1512.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606850	0.87157	.	.	ENSG00000174606	ENST00000366962;ENST00000360506;ENST00000544555;ENST00000540642;ENST00000535388	D;D;D;D;D	0.95622	-3.76;-3.16;-3.16;-3.76;-3.16	5.45	4.53	0.55603	Endonuclease/exonuclease/phosphatase (2);	0.060391	0.64402	D	0.000003	D	0.98137	0.9385	M	0.93420	3.415	0.58432	D	0.999999	D;D	0.76494	0.996;0.999	D;D	0.77557	0.959;0.99	D	0.99007	1.0813	10	0.87932	D	0	-10.8417	13.6511	0.62312	0.0:0.9244:0.0:0.0756	.	120;246	F5H476;Q5VTE6	.;ANGE2_HUMAN	L	246;77;77;120;77	ENSP00000355929:R246L;ENSP00000353696:R77L;ENSP00000443193:R77L;ENSP00000446124:R120L;ENSP00000438141:R77L	ENSP00000353696:R77L	R	-	2	0	ANGEL2	211245395	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.604000	0.67626	1.398000	0.46701	0.650000	0.86243	CGG		0.363	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089693.1	NM_144567		9	586	1	0	0.00010058	0.00136819	0.000450479	9	586				
TUBB4A	10382	broad.mit.edu	37	19	6495371	6495371	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:6495371C>T	ENST00000264071.2	-	4	1510	c.1139G>A	c.(1138-1140)cGc>cAc	p.R380H	CTD-2396E7.9_ENST00000599292.1_RNA|CTD-2396E7.10_ENST00000596027.1_RNA|TUBB4A_ENST00000540257.1_Missense_Mutation_p.R380H			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	380					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.R380L(1)									CTCGGAGATGCGCTTGAACAG	0.637																																						ENST00000264071.2																			1	Substitution - Missense(1)	p.R380L(1)	lung(1)								c.(1138-1140)cGc>cAc		tubulin, beta 4A class IVa							156.0	141.0	146.0					19																	6495371		2203	4298	6501	SO:0001583	missense	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6495371C>T	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.1139G>A	19.37:g.6495371C>T	ENSP00000264071:p.Arg380His					TUBB4A_ENST00000540257.1_Missense_Mutation_p.R380H	p.R380H			P04350	TBB4_HUMAN			4	1510	-			380					B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	c.1139G>A	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189398	0.57909	.	.	ENSG00000104833	ENST00000264071;ENST00000540257;ENST00000412858	D;D	0.83673	-1.75;-1.75	3.43	3.43	0.39272	.	0.000000	0.64402	U	0.000002	D	0.88187	0.6369	M	0.91818	3.245	0.58432	D	0.999991	P	0.48764	0.915	P	0.47118	0.538	D	0.91052	0.4879	10	0.87932	D	0	.	13.6752	0.62449	0.0:1.0:0.0:0.0	.	380	P04350	TBB4A_HUMAN	H	380;380;298	ENSP00000264071:R380H;ENSP00000443590:R380H	ENSP00000264071:R380H	R	-	2	0	TUBB4	6446371	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.681000	0.84073	1.473000	0.48159	0.306000	0.20318	CGC		0.637	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		6	877	0	0	0	0.00198382	0	6	877				
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:114270000G>A	ENST00000393494.2	+	5	816	c.537G>A	c.(535-537)caG>caA	p.Q179Q	FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000393500.3_Silent_p.Q104Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q204Q(1)	lung(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(310-312)caG>caA		forkhead box P2							41.0	38.0	39.0					7																	114270000		2199	4282	6481	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114270000G>A	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.537G>A	7.37:g.114270000G>A						FOXP2_ENST00000393494.2_Silent_p.Q179Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q	p.Q104Q			O15409	FOXP2_HUMAN			11	1132	+			179			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.312G>A	CCDS5760.1																																																																																				0.498	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		8	280	0	0	0	0.000157383	0	8	280				
LAMA3	3909	broad.mit.edu	37	18	21355821	21355821	+	Missense_Mutation	SNP	C	C	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr18:21355821C>G	ENST00000313654.9	+	10	1580	c.1339C>G	c.(1339-1341)Cca>Gca	p.P447A	LAMA3_ENST00000399516.3_Missense_Mutation_p.P447A	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	447	Domain V.|Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TCACTGCAAGCCAAATTTCCA	0.498																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(1339-1341)Cca>Gca		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						78.0	75.0	76.0					18																	21355821		1972	4163	6135	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21355821C>G	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.1339C>G	18.37:g.21355821C>G	ENSP00000324532:p.Pro447Ala					LAMA3_ENST00000399516.3_Missense_Mutation_p.P447A	p.P447A	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			10	1580	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		447			Domain V.|Laminin EGF-like 3.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.1339C>G	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	7.523	0.657060	0.14580	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669;ENST00000538801	T;T	0.62105	0.05;0.05	4.76	1.88	0.25563	EGF-like, laminin (4);EGF-like region, conserved site (1);	.	.	.	.	T	0.53158	0.1779	L	0.58510	1.815	0.48288	D	0.99962	B;B;B	0.34399	0.452;0.216;0.064	B;B;B	0.36567	0.228;0.069;0.069	T	0.37596	-0.9699	9	0.18710	T	0.47	.	7.7107	0.28675	0.0:0.7066:0.1346:0.1588	.	447;447;447	F5H8G3;Q6VU67;Q16787	.;.;LAMA3_HUMAN	A	447;447;445;447	ENSP00000324532:P447A;ENSP00000382432:P447A	ENSP00000324532:P447A	P	+	1	0	LAMA3	19609819	0.034000	0.19679	0.358000	0.25811	0.709000	0.40893	0.580000	0.23803	0.603000	0.29913	-0.186000	0.12905	CCA		0.498	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		6	370	0	0	0	0.00198382	0	6	370				
COA6	388753	broad.mit.edu	37	1	234519507	234519507	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:234519507C>A	ENST00000366613.1	+	3	357	c.321C>A	c.(319-321)ttC>ttA	p.F107L	COA6_ENST00000366615.4_Missense_Mutation_p.F137L|COA6_ENST00000366612.1_Missense_Mutation_p.F61L	NM_001012985.2	NP_001013003.1	Q5JTJ3	COA6_HUMAN	cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae)	107						mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|poly(A) RNA binding (GO:0044822)										ACTTAAAATTCAAAGAAAAAT	0.303																																						ENST00000366612.1																			0											c.(181-183)ttC>ttA		cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae)							41.0	45.0	44.0					1																	234519507		2202	4298	6500	SO:0001583	missense	388753							g.chr1:234519507C>A		CCDS31059.1, CCDS55690.1	1q42.2	2012-10-15	2012-10-15	2012-10-15	ENSG00000168275	ENSG00000168275		"""Mitochondrial respiratory chain complex assembly factors"""	18025	protein-coding gene	gene with protein product		614772	"""chromosome 1 open reading frame 31"""	C1orf31		22984289	Standard	NM_001012985		Approved		uc001hwc.3	Q5JTJ3	OTTHUMG00000037945	ENST00000366613.1:c.321C>A	1.37:g.234519507C>A	ENSP00000355572:p.Phe107Leu					COA6_ENST00000366615.4_Missense_Mutation_p.F137L|COA6_ENST00000366613.1_Missense_Mutation_p.F107L	p.F61L							2	728	+								Q5JTJ2|Q5JTJ4|Q8TA88	Missense_Mutation	SNP	ENST00000366613.1	37	c.183C>A	CCDS31059.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895545	0.72639	.	.	ENSG00000168275	ENST00000366615;ENST00000424237;ENST00000366613;ENST00000366612	D;D;D	0.86097	-2.07;-2.07;-2.07	5.78	2.92	0.33932	.	0.063954	0.64402	D	0.000005	D	0.89174	0.6640	M	0.76170	2.325	0.35379	D	0.7897	D	0.67145	0.996	P	0.62298	0.9	D	0.89736	0.3930	10	0.48119	T	0.1	.	8.8568	0.35234	0.0:0.6461:0.0:0.3539	.	107	Q5JTJ3	CA031_HUMAN	L	137;138;107;61	ENSP00000355574:F137L;ENSP00000355572:F107L;ENSP00000355571:F61L	ENSP00000355571:F61L	F	+	3	2	C1orf31	232586130	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	0.799000	0.27028	0.462000	0.27095	-0.150000	0.13652	TTC		0.303	COA6-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092613.1	NM_001012985		11	592	1	0	0.000978159	0.000978159	0.00411918	11	592				
RNF41	10193	broad.mit.edu	37	12	56600246	56600246	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:56600246G>A	ENST00000345093.4	-	7	1308	c.939C>T	c.(937-939)ggC>ggT	p.G313G	RNF41_ENST00000394013.2_Silent_p.G242G|RNF41_ENST00000552656.1_Silent_p.G313G	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN	ring finger protein 41, E3 ubiquitin protein ligase	313					extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|proteasomal protein catabolic process (GO:0010498)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|regulation of establishment of cell polarity (GO:2000114)|regulation of lymphocyte differentiation (GO:0045619)|regulation of MAPK cascade (GO:0043408)|regulation of myeloid cell differentiation (GO:0045637)|regulation of protein kinase B signaling (GO:0051896)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytosol (GO:0005829)	acid-amino acid ligase activity (GO:0016881)|protein tag (GO:0031386)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						TCTCTTCCACGCCATGCGCAA	0.522											OREG0021921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000345093.4																			0				breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						c.(937-939)ggC>ggT		ring finger protein 41							173.0	167.0	169.0					12																	56600246		2203	4300	6503	SO:0001819	synonymous_variant	10193				apoptosis|induction of apoptosis|protein polyubiquitination|regulation of reactive oxygen species metabolic process		protein binding|protein tag|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:56600246G>A	AF077599	CCDS8909.1, CCDS8910.1	12q13.13	2014-03-24	2014-03-24		ENSG00000181852	ENSG00000181852		"""RING-type (C3HC4) zinc fingers"""	18401	protein-coding gene	gene with protein product			"""ring finger protein 41"""				Standard	NM_005785		Approved	SBBI03, NRDP1	uc001skg.2	Q9H4P4	OTTHUMG00000170328	ENST00000345093.4:c.939C>T	12.37:g.56600246G>A			OREG0021921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1016	RNF41_ENST00000394013.2_Silent_p.G242G|RNF41_ENST00000552656.1_Silent_p.G313G	p.G313G	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN			7	1308	-			313					A6NFW0|B2RBT8|O75598	Silent	SNP	ENST00000345093.4	37	c.939C>T	CCDS8909.1																																																																																				0.522	RNF41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408525.1	NM_005785		53	690	0	0	0	0.000781405	0	53	690				
ARID1A	8289	broad.mit.edu	37	1	27099950	27099950	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:27099950C>T	ENST00000324856.7	+	15	4200	c.3829C>T	c.(3829-3831)Cag>Tag	p.Q1277*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1277*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q894*|ARID1A_ENST00000540690.1_5'UTR	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1277					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.G1274fs*7(2)|p.M1273fs(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGGACCACGACAGCACTATCC	0.602			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	3	Deletion - Frameshift(2)|Complex(1)	p.G1274fs*7(2)|p.M1273fs(1)	liver(3)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(3829-3831)Cag>Tag		AT rich interactive domain 1A (SWI-like)							73.0	65.0	67.0					1																	27099950		2203	4300	6503	SO:0001587	stop_gained	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27099950C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3829C>T	1.37:g.27099950C>T	ENSP00000320485:p.Gln1277*					ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q894*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1277*|ARID1A_ENST00000540690.1_5'UTR	p.Q1277*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	15	4200	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1277					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.3829C>T	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.172493|9.172493	0.99089|0.99089	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152|ENST00000430799	.|.	.|.	.|.	4.72|4.72	4.72|4.72	0.59763|0.59763	.|.	0.053822|.	0.85682|.	D|.	0.000000|.	.|T	.|0.73938	.|0.3651	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72997	.|-0.4121	.|4	0.09843|.	T|.	0.71|.	-1.2962|-1.2962	18.2413|18.2413	0.89968|0.89968	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	1277;1277;894|173	.|.	ENSP00000320485:Q1277X|.	Q|T	+|+	1|2	0|0	ARID1A|ARID1A	26972537|26972537	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.231000|7.231000	0.78106|0.78106	2.627000|2.627000	0.88993|0.88993	0.655000|0.655000	0.94253|0.94253	CAG|ACA		0.602	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		47	62	0	0	0	0.00285205	0	47	62				
CTNND2	1501	broad.mit.edu	37	5	11364949	11364949	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:11364949G>A	ENST00000304623.8	-	8	1420	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W	CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.R74W|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.R411W|CTNND2_ENST00000511377.1_Missense_Mutation_p.R320W	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	411					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGCAGGGCCCGCAACTCTGGG	0.577																																						ENST00000304623.8																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(1231-1233)Cgg>Tgg		catenin (cadherin-associated protein), delta 2							49.0	54.0	52.0					5																	11364949		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11364949G>A	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1231C>T	5.37:g.11364949G>A	ENSP00000307134:p.Arg411Trp					CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.R320W|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.R411W|CTNND2_ENST00000503622.1_Missense_Mutation_p.R74W	p.R411W	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN			8	1420	-			411					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.1231C>T	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504805	0.85176	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000503622;ENST00000502551	D;D;D;T	0.83419	-1.6;-1.72;-1.6;-1.41	5.47	4.52	0.55395	.	0.000000	0.64402	D	0.000019	D	0.88097	0.6345	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.99;0.998	D	0.88375	0.2997	10	0.87932	D	0	-20.37	10.9741	0.47456	0.0:0.0:0.5842:0.4157	.	74;411	B4DRK2;Q9UQB3	.;CTND2_HUMAN	W	411;411;320;74;151	ENSP00000307134:R411W;ENSP00000352661:R411W;ENSP00000426510:R320W;ENSP00000426887:R74W	ENSP00000307134:R411W	R	-	1	2	CTNND2	11417949	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.008000	0.49544	2.581000	0.87130	0.655000	0.94253	CGG		0.577	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		29	108	0	0	0	0.00127121	0	29	108				
KRTAP10-5	386680	broad.mit.edu	37	21	45999841	45999841	+	Silent	SNP	A	A	G	rs183168612	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr21:45999841A>G	ENST00000400372.1	-	1	640	c.615T>C	c.(613-615)tgT>tgC	p.C205C	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	205	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.C205C(2)		endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						AAGCCGGCTGACAGCTAGACT	0.632													.|||	12	0.00239617	0.0061	0.0029	5008	,	,		22259	0.0		0.0	False		,,,				2504	0.002					ENST00000400372.1																			2	Substitution - coding silent(2)	p.C205C(2)	lung(1)|prostate(1)	endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(613-615)tgT>tgC		keratin associated protein 10-5							155.0	160.0	158.0					21																	45999841		2203	4300	6503	SO:0001819	synonymous_variant	386680					keratin filament		g.chr21:45999841A>G	AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"""Keratin associated proteins"""	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.615T>C	21.37:g.45999841A>G						TSPEAR_ENST00000323084.4_Intron	p.C205C	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN			1	640	-			205			22 X 5 AA repeats of C-C-X(3).		Q0VAR7|Q0VAR8|Q70LJ3	Silent	SNP	ENST00000400372.1	37	c.615T>C	CCDS42958.1																																																																																				0.632	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128042.1			7	678	0	0	0	0.00198382	0	7	678				
GRIK2	2898	broad.mit.edu	37	6	102266348	102266348	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr6:102266348C>T	ENST00000421544.1	+	9	1797	c.1307C>T	c.(1306-1308)aCc>aTc	p.T436I	GRIK2_ENST00000413795.1_Missense_Mutation_p.T436I|GRIK2_ENST00000318991.6_Missense_Mutation_p.T436I|GRIK2_ENST00000369138.1_Missense_Mutation_p.T436I|GRIK2_ENST00000369134.4_Missense_Mutation_p.T387I|GRIK2_ENST00000369137.3_Missense_Mutation_p.T436I	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	436					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TTGATTGTTACCACCATTTTG	0.383																																						ENST00000369138.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(1306-1308)aCc>aTc		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						192.0	172.0	179.0					6																	102266348		2203	4300	6503	SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102266348C>T		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.1307C>T	6.37:g.102266348C>T	ENSP00000397026:p.Thr436Ile					GRIK2_ENST00000318991.6_Missense_Mutation_p.T436I|GRIK2_ENST00000369134.4_Missense_Mutation_p.T387I|GRIK2_ENST00000369137.3_Missense_Mutation_p.T436I|GRIK2_ENST00000421544.1_Missense_Mutation_p.T436I|GRIK2_ENST00000413795.1_Missense_Mutation_p.T436I	p.T436I	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	9	1797	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	436					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.1307C>T	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.935787	0.73442	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076;ENST00000455610;ENST00000436862	T;T;T;T;T;T;T;T	0.35789	2.8;2.8;2.8;2.8;2.8;2.8;1.29;2.8	5.81	5.81	0.92471	Ionotropic glutamate receptor (1);	0.053012	0.85682	D	0.000000	T	0.56673	0.2001	M	0.77406	2.37	0.54753	D	0.999982	D;P;D	0.58970	0.984;0.932;0.984	D;P;P	0.65573	0.936;0.794;0.899	T	0.57665	-0.7772	10	0.59425	D	0.04	.	20.064	0.97700	0.0:1.0:0.0:0.0	.	436;436;436	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	I	436;436;436;436;436;436;387;398;149;35	ENSP00000397026:T436I;ENSP00000405596:T436I;ENSP00000358134:T436I;ENSP00000358133:T436I;ENSP00000313276:T436I;ENSP00000358130:T387I;ENSP00000391988:T149I;ENSP00000407140:T35I	ENSP00000313276:T436I	T	+	2	0	GRIK2	102373041	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.487000	0.81328	2.753000	0.94483	0.643000	0.83706	ACC		0.383	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			6	113	0	0	0	0.000274275	0	6	113				
USP17L2	377630	broad.mit.edu	37	8	11995011	11995011	+	Nonsense_Mutation	SNP	A	A	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:11995011A>T	ENST00000333796.3	-	1	1575	c.1259T>A	c.(1258-1260)tTg>tAg	p.L420*	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	420	Mediates interaction with SUDS3.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GCGCTCGTCCAACTCGGGTGC	0.567																																						ENST00000333796.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(1258-1260)tTg>tAg		ubiquitin specific peptidase 17-like family member 2							59.0	64.0	62.0					8																	11995011		1603	3597	5200	SO:0001587	stop_gained	377630				apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr8:11995011A>T	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"""deubiquitinating enzyme 3"""	610186	"""ubiquitin specific peptidase 17-like 2"""				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.1259T>A	8.37:g.11995011A>T	ENSP00000333329:p.Leu420*					FAM66D_ENST00000434078.2_RNA	p.L420*	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN			1	1575	-			420						Nonsense_Mutation	SNP	ENST00000333796.3	37	c.1259T>A	CCDS43713.1	.	.	.	.	.	.	.	.	.	.	A	19.49	3.836544	0.71373	.	.	ENSG00000223443	ENST00000333796	.	.	.	0.36	-0.721	0.11189	.	0.944627	0.08527	U	0.932543	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	.	.	.	.	.	.	.	X	420	.	ENSP00000333329:L420X	L	-	2	0	USP17L2	12032420	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.011000	0.12721	-0.718000	0.04949	-0.731000	0.03576	TTG		0.567	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402		23	408	0	0	0	0.00278032	0	23	408				
MYO9A	4649	broad.mit.edu	37	15	72300289	72300289	+	Missense_Mutation	SNP	A	A	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr15:72300289A>G	ENST00000356056.5	-	8	1730	c.1258T>C	c.(1258-1260)Ttc>Ctc	p.F420L	MYO9A_ENST00000424560.1_Missense_Mutation_p.F420L|RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000444904.1_Missense_Mutation_p.F401L|MYO9A_ENST00000564571.1_Missense_Mutation_p.F420L|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Missense_Mutation_p.F15L	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	420	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGAAGAGAGAAAATCCTGGGA	0.343																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(1258-1260)Ttc>Ctc		myosin IXA							90.0	92.0	91.0					15																	72300289		2199	4296	6495	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72300289A>G	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.1258T>C	15.37:g.72300289A>G	ENSP00000348349:p.Phe420Leu					MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.F401L|MYO9A_ENST00000564571.1_Missense_Mutation_p.F420L|RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000566885.1_Missense_Mutation_p.F15L|MYO9A_ENST00000424560.1_Missense_Mutation_p.F420L	p.F420L	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			8	1730	-			420			Myosin head-like 1.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.1258T>C	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.657601	0.88154	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	D;D;D	0.87256	-2.23;-2.23;-2.23	5.28	5.28	0.74379	Myosin head, motor domain (2);	.	.	.	.	D	0.89966	0.6868	L	0.59436	1.845	0.80722	D	1	D;P;P;P	0.69078	0.997;0.474;0.794;0.859	P;P;P;P	0.59643	0.861;0.523;0.523;0.781	D	0.90607	0.4549	9	0.72032	D	0.01	.	11.2077	0.48780	0.8465:0.1535:0.0:0.0	.	401;420;401;420	B2RTY4-2;B2RTY4-3;B7WP69;B2RTY4	.;.;.;MYO9A_HUMAN	L	420;420;401;401;420	ENSP00000348349:F420L;ENSP00000399162:F420L;ENSP00000398250:F401L	ENSP00000261864:F401L	F	-	1	0	MYO9A	70087343	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.834000	0.75339	2.107000	0.64212	0.460000	0.39030	TTC		0.343	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		5	300	0	0	0	0.00116845	0	5	300				
SLC35G5	83650	broad.mit.edu	37	8	11188791	11188791	+	Missense_Mutation	SNP	G	G	A	rs370522572		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:11188791G>A	ENST00000382435.4	+	1	395	c.176G>A	c.(175-177)cGt>cAt	p.R59H		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	59	EamA 1.					integral component of membrane (GO:0016021)											CCCCTTTCTCGTATGGCTTAC	0.647																																						ENST00000382435.4																			0											c.(175-177)cGt>cAt		solute carrier family 35, member G5		G	HIS/ARG	0,4406		0,0,2203	111.0	109.0	110.0		176	0.3	0.9	8		110	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC35G5	NM_054028.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	59/339	11188791	1,13005	2203	4300	6503	SO:0001583	missense	83650					integral to membrane		g.chr8:11188791G>A	AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"""Solute carriers"""	15546	protein-coding gene	gene with protein product		615199	"""acyl-malonyl condensing enzyme 1-like 2"""	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.176G>A	8.37:g.11188791G>A	ENSP00000371872:p.Arg59His						p.R59H	NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN			1	395	+			59			DUF6 1.		A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	c.176G>A	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.814400	0.32053	0.0	1.16E-4	ENSG00000177710	ENST00000382435	T	0.54279	0.58	0.34	0.34	0.15985	.	0.000000	0.45867	D	0.000330	T	0.35068	0.0919	L	0.32530	0.975	0.41837	D	0.990104	B	0.12013	0.005	B	0.14023	0.01	T	0.10451	-1.0629	10	0.41790	T	0.15	-1.8351	6.5344	0.22344	2.0E-4:0.0:0.9998:0.0	.	59	Q96KT7	S35G5_HUMAN	H	59	ENSP00000371872:R59H	ENSP00000371872:R59H	R	+	2	0	SLC35G5	11226201	0.908000	0.30866	0.916000	0.36221	0.263000	0.26337	3.696000	0.54757	0.426000	0.26116	0.089000	0.15464	CGT		0.647	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		8	434	0	0	0	0.000442599	0	8	434				
ARHGEF15	22899	broad.mit.edu	37	17	8216367	8216367	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:8216367G>A	ENST00000361926.3	+	3	839	c.729G>A	c.(727-729)ccG>ccA	p.P243P	ARHGEF15_ENST00000421050.1_Silent_p.P243P	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	243					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GGGCCTCCCCGCTGCGGACCT	0.697																																						ENST00000361926.3																			0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(727-729)ccG>ccA		Rho guanine nucleotide exchange factor (GEF) 15							50.0	56.0	54.0					17																	8216367		2203	4299	6502	SO:0001819	synonymous_variant	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8216367G>A	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.729G>A	17.37:g.8216367G>A						ARHGEF15_ENST00000421050.1_Silent_p.P243P	p.P243P	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN			3	839	+			243					A8K6G1|Q8N449|Q9H8B4	Silent	SNP	ENST00000361926.3	37	c.729G>A	CCDS11139.1																																																																																				0.697	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		12	269	0	0	0	0.000978159	0	12	269				
TCEB3B	51224	broad.mit.edu	37	18	44559687	44559687	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr18:44559687G>A	ENST00000332567.4	-	1	2301	c.1949C>T	c.(1948-1950)aCg>aTg	p.T650M	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	650	Activation domain. {ECO:0000250}.				regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ATCATAAGGCGTCTTGGCCAC	0.537																																						ENST00000332567.4																			0				breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1948-1950)aCg>aTg		transcription elongation factor B polypeptide 3B (elongin A2)							132.0	133.0	133.0					18																	44559687		2203	4300	6503	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44559687G>A	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.1949C>T	18.37:g.44559687G>A	ENSP00000331302:p.Thr650Met					KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	p.T650M	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN			1	2301	-			650			Activation domain (By similarity).		Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.1949C>T	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.307100	0.23821	.	.	ENSG00000206181	ENST00000332567	T	0.07216	3.21	1.4	-0.709	0.11237	.	0.754074	0.11156	U	0.593616	T	0.16471	0.0396	L	0.44542	1.39	0.09310	N	1	D	0.71674	0.998	D	0.71414	0.973	T	0.15636	-1.0430	10	0.62326	D	0.03	-1.8221	6.9376	0.24474	0.0:0.5733:0.4267:0.0	.	650	Q8IYF1	ELOA2_HUMAN	M	650	ENSP00000331302:T650M	ENSP00000331302:T650M	T	-	2	0	TCEB3B	42813685	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.276000	0.18716	-0.250000	0.09555	-0.222000	0.12452	ACG		0.537	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		261	595	0	0	0	0.000781405	0	261	595				
MAST2	23139	broad.mit.edu	37	1	46493452	46493452	+	Missense_Mutation	SNP	T	T	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:46493452T>C	ENST00000361297.2	+	17	2252	c.1969T>C	c.(1969-1971)Tcc>Ccc	p.S657P	MAST2_ENST00000372009.2_Missense_Mutation_p.S587P	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CTTTGGACTGTCCAAAATTGG	0.443																																						ENST00000361297.2																			0				breast(1)|lung(3)|ovary(5)|stomach(2)	11						c.(1969-1971)Tcc>Ccc		microtubule associated serine/threonine kinase 2							116.0	112.0	113.0					1																	46493452		1911	4145	6056	SO:0001583	missense	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46493452T>C	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.1969T>C	1.37:g.46493452T>C	ENSP00000354671:p.Ser657Pro					MAST2_ENST00000372008.1_Missense_Mutation_p.S542P|MAST2_ENST00000372009.2_Missense_Mutation_p.S587P	p.S657P	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN			17	2252	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		657			Protein kinase.			Missense_Mutation	SNP	ENST00000361297.2	37	c.1969T>C	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	T	28.9	4.959572	0.92791	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000432341;ENST00000372008	T;T;T	0.31769	1.48;1.48;1.48	5.41	5.41	0.78517	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.057231	0.64402	D	0.000001	T	0.63674	0.2531	M	0.90759	3.145	0.80722	D	1	D;P;D;D	0.89917	0.981;0.939;1.0;0.972	D;P;D;P	0.91635	0.972;0.798;0.999;0.835	T	0.72507	-0.4272	10	0.87932	D	0	-15.7057	15.761	0.78080	0.0:0.0:0.0:1.0	.	587;331;587;657	Q6P0Q8-2;E7EWL1;E7ERL6;Q6P0Q8	.;.;.;MAST2_HUMAN	P	657;587;331;542	ENSP00000354671:S657P;ENSP00000361079:S587P;ENSP00000361078:S542P	ENSP00000354671:S657P	S	+	1	0	MAST2	46266039	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	8.040000	0.89188	2.190000	0.69967	0.459000	0.35465	TCC		0.443	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		5	349	0	0	0	0.00116845	0	5	349				
TUBB8P7	197331	broad.mit.edu	37	16	90162579	90162579	+	RNA	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr16:90162579C>T	ENST00000564451.1	+	0	1932				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		AGGAGTATGCCGAGGAGGAGG	0.512																																						ENST00000567960.1																			0																																																			0							g.chr16:90162579C>T			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162579C>T						TUBB8P7_ENST00000564451.1_RNA								0	1315	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.512	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		6	488	0	0	0	0.000157383	0	6	488				
TPTE2P6	374491	broad.mit.edu	37	13	25168489	25168489	+	RNA	SNP	G	G	A	rs200109937		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr13:25168489G>A	ENST00000453498.1	+	0	1161				TPTE2P6_ENST00000440905.1_RNA																							TGAAAGTGCAGTTTTTCTCTT	0.363																																						ENST00000453498.1																			0																																																			0							g.chr13:25168489G>A																													13.37:g.25168489G>A														0	1161	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.363	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			4	163	0	0	0	0.000157383	0	4	163				
ATRNL1	26033	broad.mit.edu	37	10	117226743	117226743	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:117226743G>A	ENST00000355044.3	+	23	3603	c.3477G>A	c.(3475-3477)acG>acA	p.T1159T	ATRNL1_ENST00000303745.7_Intron|ATRNL1_ENST00000423111.2_Silent_p.T210T	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1159					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TCAACATTACGTGGTCTGTCG	0.294																																						ENST00000355044.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(3475-3477)acG>acA		attractin-like 1							130.0	125.0	127.0					10																	117226743		2202	4296	6498	SO:0001819	synonymous_variant	26033					integral to membrane	sugar binding	g.chr10:117226743G>A	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3477G>A	10.37:g.117226743G>A						ATRNL1_ENST00000303745.7_Intron|ATRNL1_ENST00000423111.2_Silent_p.T210T	p.T1159T	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	23	3603	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	1159					O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP	ENST00000355044.3	37	c.3477G>A	CCDS7592.1																																																																																				0.294	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		20	312	0	0	0	0.00188189	0	20	312				
FARSA	2193	broad.mit.edu	37	19	13039582	13039582	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:13039582C>T	ENST00000314606.4	-	5	601	c.583G>A	c.(583-585)Gag>Aag	p.E195K	FARSA_ENST00000588025.1_Missense_Mutation_p.E235K|CTC-425F1.2_ENST00000592636.1_RNA|FARSA_ENST00000423140.2_Intron	NM_004461.2	NP_004452.1	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	195					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	GAGATCATCTCTGGGCTCAGC	0.627																																						ENST00000588025.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20						c.(703-705)Gag>Aag		phenylalanyl-tRNA synthetase, alpha subunit	L-Phenylalanine(DB00120)						114.0	96.0	103.0					19																	13039582		2203	4300	6503	SO:0001583	missense	2193				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding	g.chr19:13039582C>T	U07424	CCDS12287.1	19p13.2	2014-05-06	2007-02-23	2007-02-23	ENSG00000179115	ENSG00000179115	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	3592	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, alpha, cytoplasmic"""	602918	"""phenylalanine-tRNA synthetase-like"", ""phenylalanyl-tRNA synthetase-like, alpha subunit"""	FARSL, FARSLA		9177188	Standard	NM_004461		Approved	CML33	uc002mvs.2	Q9Y285	OTTHUMG00000180569	ENST00000314606.4:c.583G>A	19.37:g.13039582C>T	ENSP00000320309:p.Glu195Lys					FARSA_ENST00000314606.4_Missense_Mutation_p.E195K|FARSA_ENST00000423140.2_Intron	p.E235K			Q9Y285	SYFA_HUMAN			6	843	-			195					B4E363|Q9NSD8|Q9Y4W8	Missense_Mutation	SNP	ENST00000314606.4	37	c.703G>A	CCDS12287.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517058	0.85495	.	.	ENSG00000179115	ENST00000314606	T	0.68903	-0.36	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.82342	0.5016	M	0.91872	3.25	0.80722	D	1	D;D	0.57571	0.98;0.98	P;P	0.55222	0.771;0.771	D	0.87035	0.2137	10	0.87932	D	0	-15.1624	17.0788	0.86593	0.0:1.0:0.0:0.0	.	195;195	Q6IBR2;Q9Y285	.;SYFA_HUMAN	K	195	ENSP00000320309:E195K	ENSP00000320309:E195K	E	-	1	0	FARSA	12900582	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	6.952000	0.75989	2.563000	0.86464	0.563000	0.77884	GAG		0.627	FARSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451935.1	NM_004461		61	230	0	0	0	0.000781405	0	61	230				
HDAC9	9734	broad.mit.edu	37	7	18767353	18767353	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:18767353C>A	ENST00000432645.2	+	12	1873	c.1873C>A	c.(1873-1875)Cgc>Agc	p.R625S	HDAC9_ENST00000401921.1_Missense_Mutation_p.R584S|HDAC9_ENST00000406451.4_Missense_Mutation_p.R625S|HDAC9_ENST00000441542.2_Missense_Mutation_p.R628S	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	625					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AGCAATGGACCGCCCCCTCCA	0.527																																						ENST00000406451.3																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82						c.(1873-1875)Cgc>Agc		histone deacetylase 9	Valproic Acid(DB00313)						41.0	46.0	44.0					7																	18767353		1988	4143	6131	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18767353C>A	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1873C>A	7.37:g.18767353C>A	ENSP00000410337:p.Arg625Ser					HDAC9_ENST00000401921.1_Missense_Mutation_p.R584S|HDAC9_ENST00000432645.2_Missense_Mutation_p.R625S|HDAC9_ENST00000441542.2_Missense_Mutation_p.R628S	p.R625S	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN			13	2023	+	all_lung(11;0.187)		625					A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.1873C>A	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	C	5.499	0.276989	0.10403	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	T;T;T;T	0.57107	0.43;0.42;0.42;0.43	4.87	1.44	0.22558	.	0.387462	0.22358	N	0.061105	T	0.35537	0.0935	L	0.36672	1.1	0.80722	D	1	B;B;B;B;B;B;B	0.19817	0.001;0.01;0.034;0.01;0.02;0.01;0.039	B;B;B;B;B;B;B	0.17979	0.003;0.01;0.018;0.018;0.008;0.018;0.02	T	0.10337	-1.0634	10	0.09338	T	0.73	-24.6513	9.38	0.38306	0.0:0.7311:0.0:0.2689	.	625;537;584;628;625;625;603	Q9UKV0-4;Q9UKV0-2;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5;Q8N879	.;.;.;.;HDAC9_HUMAN;.;.	S	625;584;625;628;537	ENSP00000384657:R625S;ENSP00000383912:R584S;ENSP00000410337:R625S;ENSP00000408617:R628S	ENSP00000339165:R537S	R	+	1	0	HDAC9	18733878	1.000000	0.71417	0.829000	0.32907	0.991000	0.79684	1.096000	0.30976	0.150000	0.19136	0.557000	0.71058	CGC		0.527	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			5	135	1	0	3.59834e-05	0.00116845	0.000163941	5	135				
CAPN6	827	broad.mit.edu	37	X	110494274	110494274	+	Silent	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:110494274C>A	ENST00000324068.1	-	8	1196	c.1029G>T	c.(1027-1029)gtG>gtT	p.V343V	CAPN6_ENST00000541758.1_Silent_p.V88V	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	343	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TAGGGTTGTTCACATTGCGGC	0.463																																						ENST00000324068.1																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						c.(1027-1029)gtG>gtT		calpain 6							330.0	294.0	306.0					X																	110494274		2203	4300	6503	SO:0001819	synonymous_variant	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110494274C>A	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1029G>T	X.37:g.110494274C>A						CAPN6_ENST00000541758.1_Silent_p.V88V	p.V343V	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN			8	1196	-			343			Calpain catalytic.		D3DUY7|Q9UEQ1|Q9UJA8	Silent	SNP	ENST00000324068.1	37	c.1029G>T	CCDS14555.1																																																																																				0.463	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			13	1732	1	0	0.00116845	0.00116845	0.00486239	13	1732				
CYP11B1	1584	broad.mit.edu	37	8	143957228	143957228	+	Missense_Mutation	SNP	G	G	A	rs372115638		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:143957228G>A	ENST00000292427.4	-	6	1053	c.1021C>T	c.(1021-1023)Cgc>Tgc	p.R341C	CYP11B1_ENST00000517471.1_Missense_Mutation_p.R341C|CYP11B1_ENST00000377675.3_Missense_Mutation_p.R412C	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	341					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	CTCTCCTGGCGCAGGGCCTGC	0.642									Familial Hyperaldosteronism type I																													ENST00000292427.4																			0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	GRCh37	HM972176	CYP11B1	M		c.(1021-1023)Cgc>Tgc		cytochrome P450, family 11, subfamily B, polypeptide 1	Mitotane(DB00648)	G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	78.0	80.0	79.0		1021,1021	2.2	1.0	8		79	1,8599		0,1,4299	no	missense,missense	CYP11B1	NM_000497.3,NM_001026213.1	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	341/504,341/438	143957228	1,13005	2203	4300	6503	SO:0001583	missense	0	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143957228G>A	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1021C>T	8.37:g.143957228G>A	ENSP00000292427:p.Arg341Cys					CYP11B1_ENST00000517471.1_Missense_Mutation_p.R341C|CYP11B1_ENST00000377675.3_Missense_Mutation_p.R412C	p.R341C	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN			6	1053	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		341					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	c.1021C>T	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	.	17.71	3.456204	0.63401	0.0	1.16E-4	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;T;T	0.73152	-0.72;2.31;-0.72	4.42	2.16	0.27623	.	0.126247	0.31963	N	0.006789	D	0.85652	0.5746	M	0.93854	3.465	0.58432	D	0.999996	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.997;0.997;0.976;0.999	D	0.86599	0.1865	10	0.66056	D	0.02	.	9.7347	0.40382	0.0:0.0:0.4473:0.5527	.	412;341;341;341;57	Q4VAR0;Q8TDD0;Q4VAQ9;P15538;Q8N9P8	.;.;.;C11B1_HUMAN;.	C	341;341;412	ENSP00000292427:R341C;ENSP00000428043:R341C;ENSP00000366903:R412C	ENSP00000292427:R341C	R	-	1	0	CYP11B1	143954230	0.011000	0.17503	0.991000	0.47740	0.808000	0.45660	0.560000	0.23500	0.949000	0.37715	0.555000	0.69702	CGC		0.642	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			43	522	0	0	0	0.000781405	0	43	522				
VAX2	25806	broad.mit.edu	37	2	71148347	71148347	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:71148347C>T	ENST00000234392.2	+	2	399	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C		NM_012476.2	NP_036608.1	Q9UIW0	VAX2_HUMAN	ventral anterior homeobox 2	123					axonogenesis (GO:0007409)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic eye morphogenesis (GO:0048048)|forebrain development (GO:0030900)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R123S(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						GGAGTTCCAGCGCTGCCAGTA	0.637																																						ENST00000234392.2																			1	Substitution - Missense(1)	p.R123S(1)	lung(1)	central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						c.(367-369)Cgc>Tgc		ventral anterior homeobox 2							43.0	42.0	42.0					2																	71148347		2203	4300	6503	SO:0001583	missense	25806				ectoderm development|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:71148347C>T	Y17791	CCDS1911.1	2p13.3	2011-06-20			ENSG00000116035	ENSG00000116035		"""Homeoboxes / ANTP class : NKL subclass"""	12661	protein-coding gene	gene with protein product		604295				10485894	Standard	NM_012476		Approved	DRES93	uc002shh.3	Q9UIW0	OTTHUMG00000129714	ENST00000234392.2:c.367C>T	2.37:g.71148347C>T	ENSP00000234392:p.Arg123Cys						p.R123C	NM_012476.2	NP_036608.1	Q9UIW0	VAX2_HUMAN			2	399	+			123					Q53Y33	Missense_Mutation	SNP	ENST00000234392.2	37	c.367C>T	CCDS1911.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.967070	0.74131	.	.	ENSG00000116035	ENST00000234392	D	0.96365	-3.99	5.43	4.47	0.54385	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.059173	0.64402	D	0.000005	D	0.96632	0.8901	L	0.52905	1.665	0.80722	D	1	D	0.76494	0.999	P	0.61722	0.893	D	0.96374	0.9276	10	0.72032	D	0.01	-14.5215	12.2143	0.54398	0.2453:0.7547:0.0:0.0	.	123	Q9UIW0	VAX2_HUMAN	C	123	ENSP00000234392:R123C	ENSP00000234392:R123C	R	+	1	0	VAX2	71001855	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.230000	0.42999	2.547000	0.85894	0.655000	0.94253	CGC		0.637	VAX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251923.1			25	240	0	0	0	0.000878237	0	25	240				
HDLBP	3069	broad.mit.edu	37	2	242179464	242179464	+	Missense_Mutation	SNP	C	C	T	rs199968516		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:242179464C>T	ENST00000391975.1	-	18	2470	c.2243G>A	c.(2242-2244)gGc>gAc	p.G748D	HDLBP_ENST00000391976.2_Missense_Mutation_p.G748D|HDLBP_ENST00000427183.2_Missense_Mutation_p.G715D|HDLBP_ENST00000310931.4_Missense_Mutation_p.G748D	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	748	KH 9. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GCGAATTTTGCCGCCCCCCTT	0.542																																						ENST00000391975.1																			0				breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2242-2244)gGc>gAc		high density lipoprotein binding protein							170.0	158.0	162.0					2																	242179464		2203	4300	6503	SO:0001583	missense	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242179464C>T		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.2243G>A	2.37:g.242179464C>T	ENSP00000375836:p.Gly748Asp					HDLBP_ENST00000391976.2_Missense_Mutation_p.G748D|HDLBP_ENST00000310931.4_Missense_Mutation_p.G748D|HDLBP_ENST00000427183.2_Missense_Mutation_p.G715D	p.G748D	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	18	2470	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	748			KH 9.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	c.2243G>A	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.3|25.3	4.627370|4.627370	0.87560|0.87560	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000427487|ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183;ENST00000452931	.|T;T;T;T;T	.|0.28666	.|1.6;1.6;1.6;1.6;2.01	5.59|5.59	5.59|5.59	0.84812|0.84812	.|K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	.|0.049242	.|0.85682	.|D	.|0.000000	T|T	0.50922|0.50922	0.1644|0.1644	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|P;P	.|0.47034	.|0.889;0.624	.|P;P	.|0.57960	.|0.83;0.579	T|T	0.43376|0.43376	-0.9395|-0.9395	5|10	.|0.54805	.|T	.|0.06	-29.8584|-29.8584	19.6061|19.6061	0.95582|0.95582	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|715;748	.|E7EM71;Q00341	.|.;VIGLN_HUMAN	T|D	150|748;748;748;715;257	.|ENSP00000375836:G748D;ENSP00000375837:G748D;ENSP00000312042:G748D;ENSP00000399139:G715D;ENSP00000388876:G257D	.|ENSP00000312042:G748D	A|G	-|-	1|2	0|0	HDLBP|HDLBP	241828137|241828137	1.000000|1.000000	0.71417|0.71417	0.782000|0.782000	0.31804|0.31804	0.804000|0.804000	0.45430|0.45430	5.921000|5.921000	0.70028|0.70028	2.651000|2.651000	0.90000|0.90000	0.650000|0.650000	0.86243|0.86243	GCA|GGC		0.542	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		8	528	0	0	0	0.000274275	0	8	528				
CCDC70	83446	broad.mit.edu	37	13	52439534	52439534	+	Missense_Mutation	SNP	G	G	T	rs141731440		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr13:52439534G>T	ENST00000242819.4	+	2	316	c.20G>T	c.(19-21)cGg>cTg	p.R7L		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	7						extracellular region (GO:0005576)|plasma membrane (GO:0005886)				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		CCGCCATTCCGGCTGATAAGG	0.577																																						ENST00000242819.4																			0				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15						c.(19-21)cGg>cTg		coiled-coil domain containing 70							46.0	46.0	46.0					13																	52439534		2203	4300	6503	SO:0001583	missense	83446					extracellular region|plasma membrane		g.chr13:52439534G>T		CCDS9431.1	13q14.3	2006-02-07			ENSG00000123171	ENSG00000123171			25303	protein-coding gene	gene with protein product						11230166	Standard	NM_031290		Approved	DKFZP434K1172, FLJ25853	uc001vfu.4	Q6NSX1	OTTHUMG00000016950	ENST00000242819.4:c.20G>T	13.37:g.52439534G>T	ENSP00000242819:p.Arg7Leu						p.R7L	NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN		GBM - Glioblastoma multiforme(99;2.4e-08)	2	316	+		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)	7					Q8N7A8|Q9H097	Missense_Mutation	SNP	ENST00000242819.4	37	c.20G>T	CCDS9431.1	.	.	.	.	.	.	.	.	.	.	G	3.641	-0.073442	0.07184	.	.	ENSG00000123171	ENST00000242819	T	0.35789	1.29	4.67	1.94	0.25998	.	1.136360	0.06681	N	0.767977	T	0.25827	0.0629	N	0.24115	0.695	0.09310	N	1	B	0.23185	0.081	B	0.23275	0.045	T	0.29488	-1.0010	10	0.46703	T	0.11	-2.2162	6.8951	0.24251	0.2994:0.0:0.7006:0.0	.	7	Q6NSX1	CCD70_HUMAN	L	7	ENSP00000242819:R7L	ENSP00000242819:R7L	R	+	2	0	CCDC70	51337535	0.001000	0.12720	0.001000	0.08648	0.011000	0.07611	0.745000	0.26259	0.143000	0.18926	-0.672000	0.03802	CGG		0.577	CCDC70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045033.2	NM_031290		6	241	1	0	0.00198382	0.00198382	0.00809612	6	241				
PLEC	5339	broad.mit.edu	37	8	144994985	144994985	+	Nonsense_Mutation	SNP	G	G	A	rs137853161		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:144994985G>A	ENST00000322810.4	-	32	9584	c.9415C>T	c.(9415-9417)Cga>Tga	p.R3139*	PLEC_ENST00000354958.2_Nonsense_Mutation_p.R2980*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.R2970*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.R3029*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.R3002*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.R2988*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.R3002*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.R3025*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.R3006*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3139	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCTCACCTCGCTGCAGCTGC	0.687																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137	GRCh37	CM050309	PLEC	M	rs137853161	c.(9415-9417)Cga>Tga		plectin							20.0	24.0	22.0					8																	144994985		2052	4156	6208	SO:0001587	stop_gained	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144994985G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.9415C>T	8.37:g.144994985G>A	ENSP00000323856:p.Arg3139*					PLEC_ENST00000527096.1_Nonsense_Mutation_p.R3025*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.R3006*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.R3002*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.R2988*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.R2970*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.R2980*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.R3002*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.R3029*	p.R3139*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	9584	-			3139			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Nonsense_Mutation	SNP	ENST00000322810.4	37	c.9415C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	49	15.377758	0.99832	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	.	.	.	4.6	3.71	0.42584	.	0.750881	0.11464	U	0.561429	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	13.7863	0.63112	0.0:0.1557:0.8443:0.0	.	.	.	.	X	3002;3006;3002;2970;3139;2980;2988;3029;3025	.	ENSP00000323856:R3139X	R	-	1	2	PLEC	145066973	0.864000	0.29904	0.748000	0.31131	0.005000	0.04900	2.894000	0.48640	1.042000	0.40150	0.448000	0.29417	CGA		0.687	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		13	207	0	0	0	0.00136819	0	13	207				
FBN2	2201	broad.mit.edu	37	5	127624885	127624885	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:127624885C>T	ENST00000508053.1	-	58	7545	c.6571G>A	c.(6571-6573)Gac>Aac	p.D2191N	FBN2_ENST00000262464.4_Missense_Mutation_p.D2191N			P35556	FBN2_HUMAN	fibrillin 2	2191	EGF-like 36; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AAAGATCCGTCGGTGTTGATA	0.413																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(6571-6573)Gac>Aac		fibrillin 2							161.0	150.0	154.0					5																	127624885		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127624885C>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.6571G>A	5.37:g.127624885C>T	ENSP00000424571:p.Asp2191Asn					FBN2_ENST00000262464.4_Missense_Mutation_p.D2191N	p.D2191N			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	58	7545	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2191			EGF-like 36; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.6571G>A	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.715887	0.89112	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.92299	-3.01;-3.01	5.76	4.88	0.63580	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.090325	0.48286	D	0.000191	D	0.87087	0.6090	L	0.46885	1.475	0.51233	D	0.999917	P	0.51933	0.949	B	0.35470	0.203	D	0.86989	0.2109	10	0.34782	T	0.22	.	15.7202	0.77705	0.0:0.9314:0.0:0.0686	.	2191	P35556	FBN2_HUMAN	N	2191	ENSP00000262464:D2191N;ENSP00000424571:D2191N	ENSP00000262464:D2191N	D	-	1	0	FBN2	127652784	1.000000	0.71417	0.702000	0.30337	0.730000	0.41778	5.939000	0.70179	2.882000	0.98803	0.655000	0.94253	GAC		0.413	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		22	502	0	0	0	0.00229938	0	22	502				
FAM160A2	84067	broad.mit.edu	37	11	6235766	6235766	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:6235766G>A	ENST00000449352.2	-	11	2695	c.2432C>T	c.(2431-2433)gCg>gTg	p.A811V	FAM160A2_ENST00000529360.1_5'UTR|FAM160A2_ENST00000265978.4_Missense_Mutation_p.A825V			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	811					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTGGGAAGCCGCAAAGTTCTC	0.532																																						ENST00000265978.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2473-2475)gCg>gTg		family with sequence similarity 160, member A2							117.0	119.0	118.0					11																	6235766		2201	4296	6497	SO:0001583	missense	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6235766G>A		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.2432C>T	11.37:g.6235766G>A	ENSP00000416918:p.Ala811Val					FAM160A2_ENST00000529360.1_5'UTR|FAM160A2_ENST00000449352.2_Missense_Mutation_p.A811V	p.A825V	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN			11	2832	-			811					Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	ENST00000449352.2	37	c.2474C>T	CCDS44530.1	.	.	.	.	.	.	.	.	.	.	g	26.2	4.717264	0.89205	.	.	ENSG00000051009	ENST00000449352;ENST00000265978	T;T	0.11277	2.81;2.79	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.28001	0.0690	L	0.51914	1.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.991;0.996	T	0.00731	-1.1590	10	0.30078	T	0.28	-9.5991	17.6957	0.88281	0.0:0.0:1.0:0.0	.	811;825	Q8N612;Q8N612-2	F16A2_HUMAN;.	V	811;825	ENSP00000416918:A811V;ENSP00000265978:A825V	ENSP00000265978:A825V	A	-	2	0	FAM160A2	6192342	1.000000	0.71417	0.993000	0.49108	0.967000	0.64934	9.136000	0.94489	2.391000	0.81399	0.457000	0.33378	GCG		0.532	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		6	541	0	0	0	0.00198382	0	6	541				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C	rs368571207		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682																																						ENST00000432432.2																			1	Substitution - Missense(1)	p.E49G(1)	kidney(1)																																																0							g.chr2:95522772T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522772T>C								NR_040113.1						0	255	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.682	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			6	203	0	0	0	0.000442599	0	6	203				
GTF3C3	9330	broad.mit.edu	37	2	197657782	197657782	+	Silent	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:197657782C>T	ENST00000263956.3	-	3	398	c.309G>A	c.(307-309)gaG>gaA	p.E103E	GTF3C3_ENST00000409364.3_Silent_p.E103E|GTF3C3_ENST00000470386.1_5'Flank	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	103	Glu-rich.				5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.E103E(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						cctcctcctcctcttcttcct	0.468																																						ENST00000263956.3																			1	Substitution - coding silent(1)	p.E103E(1)	endometrium(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(307-309)gaG>gaA		general transcription factor IIIC, polypeptide 3, 102kDa							65.0	63.0	64.0					2																	197657782		2203	4300	6503	SO:0001819	synonymous_variant	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197657782C>T	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.309G>A	2.37:g.197657782C>T						GTF3C3_ENST00000409364.3_Silent_p.E103E	p.E103E	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN			3	398	-			103			Glu-rich.		Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Silent	SNP	ENST00000263956.3	37	c.309G>A	CCDS2316.1																																																																																				0.468	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			7	435	0	0	0	0.000274275	0	7	435				
PSMB4	5692	broad.mit.edu	37	1	151372581	151372581	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:151372581C>T	ENST00000290541.6	+	2	319	c.265C>T	c.(265-267)Cga>Tga	p.R89*		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	89					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	lipopolysaccharide binding (GO:0001530)|threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCGCATTATGCGAGTCAACAA	0.537																																						ENST00000290541.6																			0				endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14						c.(265-267)Cga>Tga		proteasome (prosome, macropain) subunit, beta type, 4							168.0	169.0	168.0					1																	151372581		2203	4300	6503	SO:0001587	stop_gained	5692				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr1:151372581C>T	D26600	CCDS996.1	1q21	2008-02-05			ENSG00000159377	ENSG00000159377		"""Proteasome (prosome, macropain) subunits"""	9541	protein-coding gene	gene with protein product		602177				7918633	Standard	NM_002796		Approved	HN3, PROS26	uc001eyc.1	P28070	OTTHUMG00000012494	ENST00000290541.6:c.265C>T	1.37:g.151372581C>T	ENSP00000290541:p.Arg89*						p.R89*	NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	319	+	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		89					B2R9L3|P31148|Q5SZS5|Q6IBI4|Q969L6	Nonsense_Mutation	SNP	ENST00000290541.6	37	c.265C>T	CCDS996.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459609	0.84317	.	.	ENSG00000159377	ENST00000290541	.	.	.	5.34	2.32	0.28847	.	0.261003	0.36703	N	0.002445	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-0.0211	13.7733	0.63038	0.6506:0.3494:0.0:0.0	.	.	.	.	X	89	.	ENSP00000290541:R89X	R	+	1	2	PSMB4	149639205	0.998000	0.40836	0.954000	0.39281	0.610000	0.37248	0.845000	0.27668	0.197000	0.20387	-0.314000	0.08810	CGA		0.537	PSMB4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034885.1	NM_002796		7	1110	0	0	0	0.000602214	0	7	1110				
PCDH10	57575	broad.mit.edu	37	4	134073128	134073128	+	Silent	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr4:134073128C>T	ENST00000264360.5	+	1	2659	c.1833C>T	c.(1831-1833)ggC>ggT	p.G611G	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	611	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CGGACGACGGCGAGAACGCCC	0.692																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(1831-1833)ggC>ggT		protocadherin 10							27.0	31.0	29.0					4																	134073128		2132	4234	6366	SO:0001819	synonymous_variant	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073128C>T	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1833C>T	4.37:g.134073128C>T							p.G611G	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2659	+			611			Cadherin 6.		Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	c.1833C>T	CCDS34063.1																																																																																				0.692	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		5	213	0	0	0	0.00198382	0	5	213				
FZD10	11211	broad.mit.edu	37	12	130648711	130648711	+	Silent	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:130648711C>T	ENST00000229030.4	+	1	1708	c.1224C>T	c.(1222-1224)atC>atT	p.I408I	FZD10_ENST00000539839.1_Missense_Mutation_p.R376W|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	408					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		ACCTGGTCATCGGCACGTCCT	0.642																																						ENST00000539839.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35						c.(1126-1128)Cgg>Tgg		frizzled family receptor 10							146.0	133.0	137.0					12																	130648711		2203	4300	6503	SO:0001819	synonymous_variant	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130648711C>T	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.1224C>T	12.37:g.130648711C>T						FZD10_ENST00000229030.4_Silent_p.I408I	p.R376W	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	1708	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		0						Missense_Mutation	SNP	ENST00000229030.4	37	c.1126C>T	CCDS9267.1	.	.	.	.	.	.	.	.	.	.	C	8.505	0.865101	0.17250	.	.	ENSG00000111432	ENST00000539839	.	.	.	5.21	-2.84	0.05751	.	.	.	.	.	T	0.68888	0.3050	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72903	-0.4151	5	0.87932	D	0	.	12.273	0.54716	0.0:0.2908:0.5973:0.1119	.	.	.	.	W	376	.	ENSP00000438460:R376W	R	+	1	2	FZD10	129214664	0.038000	0.19896	0.092000	0.20876	0.725000	0.41563	-0.798000	0.04565	-0.407000	0.07576	-0.305000	0.09177	CGG		0.642	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				64	213	0	0	0	0.000781405	0	64	213				
CNTNAP1	8506	broad.mit.edu	37	17	40839935	40839935	+	Silent	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:40839935C>A	ENST00000264638.4	+	8	1459	c.1242C>A	c.(1240-1242)ctC>ctA	p.L414L	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	414	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		AGCTGACGCTCAGCGAAGGGC	0.637																																						ENST00000264638.4																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1240-1242)ctC>ctA		contactin associated protein 1							58.0	57.0	57.0					17																	40839935		2203	4300	6503	SO:0001819	synonymous_variant	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40839935C>A	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.1242C>A	17.37:g.40839935C>A						CTD-3193K9.3_ENST00000592440.1_RNA	p.L414L	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	8	1459	+		Breast(137;0.000143)	414			Laminin G-like 2.			Silent	SNP	ENST00000264638.4	37	c.1242C>A	CCDS11436.1																																																																																				0.637	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		11	392	1	0	0.00136819	0.00136819	0.0056713	11	392				
MRPS14	63931	broad.mit.edu	37	1	174983906	174983906	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:174983906G>A	ENST00000476371.1	-	3	302	c.286C>T	c.(286-288)Cgt>Tgt	p.R96C	MRPS14_ENST00000498253.1_5'UTR	NM_022100.2	NP_071383.1			mitochondrial ribosomal protein S14									p.R96S(1)		large_intestine(2)|lung(5)|pancreas(1)|prostate(2)	10						CCACGCGGACGGGACGTCATA	0.522																																						ENST00000476371.1																			1	Substitution - Missense(1)	p.R96S(1)	lung(1)	large_intestine(2)|lung(5)|pancreas(1)|prostate(2)	10						c.(286-288)Cgt>Tgt		mitochondrial ribosomal protein S14							155.0	143.0	147.0					1																	174983906		2203	4300	6503	SO:0001583	missense	63931				translation	mitochondrial ribosome	protein binding|structural constituent of ribosome	g.chr1:174983906G>A	AB051350	CCDS1316.1	1q25.1	2012-09-13			ENSG00000120333	ENSG00000120333		"""Mitochondrial ribosomal proteins / small subunits"""	14049	protein-coding gene	gene with protein product		611978					Standard	NR_037606		Approved	HSMRPS14	uc001gkk.3	O60783	OTTHUMG00000034878	ENST00000476371.1:c.286C>T	1.37:g.174983906G>A	ENSP00000420714:p.Arg96Cys					MRPS14_ENST00000498253.1_5'UTR	p.R96C	NM_022100.2	NP_071383.1	O60783	RT14_HUMAN			3	302	-			96						Missense_Mutation	SNP	ENST00000476371.1	37	c.286C>T	CCDS1316.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.899841	0.91962	.	.	ENSG00000120333	ENST00000476371	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.91653	0.7362	H	0.98738	4.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94083	0.7346	9	0.87932	D	0	-16.0916	20.6593	0.99626	0.0:0.0:1.0:0.0	.	96	O60783	RT14_HUMAN	C	96	.	ENSP00000420714:R96C	R	-	1	0	MRPS14	173250529	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.365000	0.73090	2.885000	0.99019	0.655000	0.94253	CGT		0.522	MRPS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084416.2	NM_022100		9	537	0	0	0	0.000274275	0	9	537				
UGDH	7358	broad.mit.edu	37	4	39512385	39512385	+	Missense_Mutation	SNP	T	T	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr4:39512385T>C	ENST00000316423.6	-	4	703	c.361A>G	c.(361-363)Aat>Gat	p.N121D	UGDH_ENST00000501493.2_Intron|UGDH_ENST00000515398.1_5'Flank|UGDH_ENST00000506179.1_Missense_Mutation_p.N121D|UGDH_ENST00000507089.1_Missense_Mutation_p.N24D	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	121					cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979)			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						TTGTACCCATTTGAGTTTTGC	0.433																																						ENST00000316423.6																			0				breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						c.(361-363)Aat>Gat		UDP-glucose 6-dehydrogenase	NADH(DB00157)						169.0	157.0	161.0					4																	39512385		2203	4300	6503	SO:0001583	missense	7358				glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity	g.chr4:39512385T>C	AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	"""UDP-glucose dehydrogenase"""			9737970, 10575217	Standard	NM_003359		Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.361A>G	4.37:g.39512385T>C	ENSP00000319501:p.Asn121Asp					UGDH_ENST00000507089.1_Missense_Mutation_p.N24D|UGDH_ENST00000506179.1_Missense_Mutation_p.N121D|UGDH_ENST00000501493.2_Intron	p.N121D	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN			4	703	-			121					B3KUU2|B4DN25|O60589	Missense_Mutation	SNP	ENST00000316423.6	37	c.361A>G	CCDS3455.1	.	.	.	.	.	.	.	.	.	.	T	14.53	2.563464	0.45694	.	.	ENSG00000109814	ENST00000316423;ENST00000506179;ENST00000507089;ENST00000515021;ENST00000514106;ENST00000509391	T;T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98;-0.98	5.95	-0.408	0.12381	UDP-glucose/GDP-mannose dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.233858	0.49916	D	0.000133	T	0.53238	0.1784	N	0.17922	0.545	0.37435	D	0.914199	B	0.02656	0.0	B	0.06405	0.002	T	0.41998	-0.9477	10	0.12430	T	0.62	0.1388	11.693	0.51527	0.0828:0.0:0.1465:0.7707	.	121	O60701	UGDH_HUMAN	D	121;121;24;134;121;121	ENSP00000319501:N121D;ENSP00000421757:N121D;ENSP00000426560:N24D;ENSP00000421954:N134D;ENSP00000425834:N121D;ENSP00000422603:N121D	ENSP00000319501:N121D	N	-	1	0	UGDH	39188780	0.994000	0.37717	0.980000	0.43619	0.998000	0.95712	1.356000	0.34079	0.011000	0.14865	0.528000	0.53228	AAT		0.433	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216818.3	NM_003359		202	464	0	0	0	0.000781405	0	202	464				
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C	rs369310197		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	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		9	1135	0	0	0	0.00116845	0	9	1135				
NANOS2	339345	broad.mit.edu	37	19	46417571	46417571	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:46417571G>A	ENST00000341294.2	-	1	465	c.381C>T	c.(379-381)agC>agT	p.S127S		NM_001029861.2	NP_001025032.1	P60321	NANO2_HUMAN	nanos homolog 2 (Drosophila)	127					germ-line stem cell maintenance (GO:0030718)|mRNA catabolic process (GO:0006402)|multicellular organismal development (GO:0007275)|negative regulation of meiosis (GO:0045835)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	mRNA binding (GO:0003729)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)		AGTTGCGCCCGCTGCGGCGGT	0.667																																						ENST00000341294.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6						c.(379-381)agC>agT		nanos homolog 2 (Drosophila)							28.0	27.0	28.0					19																	46417571		2201	4299	6500	SO:0001819	synonymous_variant	339345				germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|perinuclear region of cytoplasm	RNA binding|zinc ion binding	g.chr19:46417571G>A	BC042883	CCDS33056.1	19q13.32	2003-12-01				ENSG00000188425			23292	protein-coding gene	gene with protein product		608228				12947200, 12690449	Standard	NM_001029861		Approved	NOS2	uc002pdu.3	P60321		ENST00000341294.2:c.381C>T	19.37:g.46417571G>A							p.S127S	NM_001029861.2	NP_001025032.1	P60321	NANO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)	1	465	-		Ovarian(192;0.0308)|all_neural(266;0.0476)	127					Q17R30|Q4G0P8	Silent	SNP	ENST00000341294.2	37	c.381C>T	CCDS33056.1																																																																																				0.667	NANOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461685.1			12	150	0	0	0	0.00244969	0	12	150				
RP11-483E23.2	0	broad.mit.edu	37	15	28599954	28599954	+	RNA	SNP	A	A	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr15:28599954A>G	ENST00000568624.1	-	0	452																											GGCTGTAGTAAAGTGCCATCT	0.478																																						ENST00000568624.1																			0																																																			0							g.chr15:28599954A>G																													15.37:g.28599954A>G														0	452	-									RNA	SNP	ENST00000568624.1	37																																																																																						0.478	RP11-483E23.2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000431212.1			5	361	0	0	0	0.00116845	0	5	361				
LYAR	55646	broad.mit.edu	37	4	4276258	4276258	+	Missense_Mutation	SNP	C	C	T	rs201663400		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr4:4276258C>T	ENST00000343470.4	-	7	908	c.668G>A	c.(667-669)cGc>cAc	p.R223H	LYAR_ENST00000452476.1_Missense_Mutation_p.R223H	NM_017816.2	NP_060286	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	223	Lys-rich.					nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCCCTTTTTGCGCTTCTTAGG	0.483																																						ENST00000343470.4																			0				endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17						c.(667-669)cGc>cAc		Ly1 antibody reactive							249.0	236.0	240.0					4																	4276258		2203	4300	6503	SO:0001583	missense	55646					nucleolus	metal ion binding|protein binding	g.chr4:4276258C>T	AL136750	CCDS3374.1	4p16.3	2013-01-10	2012-12-07		ENSG00000145220	ENSG00000145220		"""Zinc fingers, C2HC-type containing"""	26021	protein-coding gene	gene with protein product			"""Ly1 antibody reactive homolog (mouse)"""			11230166, 8491376	Standard	NM_001145725		Approved	ZC2HC2, ZLYAR	uc003ght.3	Q9NX58	OTTHUMG00000125477	ENST00000343470.4:c.668G>A	4.37:g.4276258C>T	ENSP00000345917:p.Arg223His					LYAR_ENST00000452476.1_Missense_Mutation_p.R223H	p.R223H	NM_017816.2	NP_060286.1	Q9NX58	LYAR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	7	908	-			223			Lys-rich.		D3DVS4|Q6FI78|Q9NYS1	Missense_Mutation	SNP	ENST00000343470.4	37	c.668G>A	CCDS3374.1	.	.	.	.	.	.	.	.	.	.	C	7.555	0.663452	0.14710	.	.	ENSG00000145220	ENST00000343470;ENST00000452476	T;T	0.32515	1.45;1.45	5.34	0.47	0.16747	.	0.598136	0.16812	N	0.198485	T	0.12860	0.0312	N	0.08118	0	0.28701	N	0.904077	B	0.33135	0.399	B	0.23275	0.045	T	0.09930	-1.0652	10	0.49607	T	0.09	-1.7228	9.5296	0.39185	0.0:0.6196:0.0:0.3804	.	223	Q9NX58	LYAR_HUMAN	H	223	ENSP00000345917:R223H;ENSP00000397367:R223H	ENSP00000345917:R223H	R	-	2	0	LYAR	4327159	0.491000	0.26019	0.318000	0.25279	0.008000	0.06430	0.021000	0.13489	-0.162000	0.10964	-0.291000	0.09656	CGC		0.483	LYAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246800.2	NM_017816		6	666	0	0	0	0.00116845	0	6	666				
SEMA4C	54910	broad.mit.edu	37	2	97527586	97527586	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:97527586C>T	ENST00000305476.5	-	13	1621	c.1489G>A	c.(1489-1491)Gtg>Atg	p.V497M		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	497	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						CAGTCGGCCACGGGCAGCTGC	0.682																																						ENST00000305476.5																			0				NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						c.(1489-1491)Gtg>Atg		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C							20.0	19.0	19.0					2																	97527586		2201	4298	6499	SO:0001583	missense	54910				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity	g.chr2:97527586C>T	AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10731	protein-coding gene	gene with protein product	"""M-Sema F"""	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.1489G>A	2.37:g.97527586C>T	ENSP00000306844:p.Val497Met						p.V497M	NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN			13	1621	-			497			Sema.		Q32MJ3|Q7Z5X0	Missense_Mutation	SNP	ENST00000305476.5	37	c.1489G>A	CCDS2029.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.906697	0.33628	.	.	ENSG00000168758	ENST00000305476	T	0.36340	1.26	4.93	1.01	0.19927	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.261632	0.33075	N	0.005317	T	0.22085	0.0532	L	0.28649	0.875	0.20489	N	0.999892	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.14868	-1.0457	10	0.52906	T	0.07	.	5.9613	0.19301	0.2318:0.4117:0.3565:0.0	.	497;207	Q9C0C4;Q6P5A5	SEM4C_HUMAN;.	M	497	ENSP00000306844:V497M	ENSP00000306844:V497M	V	-	1	0	SEMA4C	96891313	1.000000	0.71417	0.960000	0.40013	0.749000	0.42624	0.770000	0.26618	0.274000	0.22072	-0.232000	0.12228	GTG		0.682	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1	NM_017789		7	118	0	0	0	0.000157383	0	7	118				
MAGEE2	139599	broad.mit.edu	37	X	75004797	75004797	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:75004797G>A	ENST00000373359.2	-	1	282	c.90C>T	c.(88-90)aaC>aaT	p.N30N		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	30								p.N30N(2)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACCCGGAGGCGTTAGTAGCTT	0.577																																						ENST00000373359.2																			2	Substitution - coding silent(2)	p.N30N(2)	large_intestine(1)|endometrium(1)	autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(88-90)aaC>aaT		melanoma antigen family E, 2							41.0	33.0	36.0					X																	75004797		2203	4299	6502	SO:0001819	synonymous_variant	139599							g.chrX:75004797G>A	AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.90C>T	X.37:g.75004797G>A							p.N30N	NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN			1	282	-			30					Q5JSI5	Silent	SNP	ENST00000373359.2	37	c.90C>T	CCDS14431.1																																																																																				0.577	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1	NM_138703		88	145	0	0	0	0.000781405	0	88	145				
NDUFA4	4697	broad.mit.edu	37	7	10979646	10979646	+	Silent	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:10979646C>A	ENST00000339600.5	-	1	237	c.39G>T	c.(37-39)ccG>ccT	p.P13P	RP5-855F16.1_ENST00000604183.1_lincRNA|NDUFA4_ENST00000492822.1_5'UTR	NM_002489.3	NP_002480.1	O00483	NDUA4_HUMAN	NDUFA4, mitochondrial complex associated	13					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrial respiratory chain complex IV (GO:0005751)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|protein complex binding (GO:0032403)			large_intestine(2)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		AACTTACGCTCGGATGCTTCT	0.567																																						ENST00000339600.5																			0				large_intestine(2)|lung(1)	3						c.(37-39)ccG>ccT		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa	NADH(DB00157)						213.0	187.0	196.0					7																	10979646		2203	4300	6503	SO:0001819	synonymous_variant	4697				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr7:10979646C>A	U94586	CCDS5357.1	7p21.3	2014-07-30	2014-07-30		ENSG00000189043	ENSG00000189043			7687	protein-coding gene	gene with protein product	"""complex I 9kDa subunit"", ""NADH-ubiquinone oxidoreductase MLRQ subunit"""	603833	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4 (9kD, MLRQ)"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa"""			9352085	Standard	NM_002489		Approved	MLRQ, CI-9k	uc003srx.2	O00483	OTTHUMG00000023880	ENST00000339600.5:c.39G>T	7.37:g.10979646C>A						NDUFA4_ENST00000492822.1_5'UTR	p.P13P	NM_002489.3	NP_002480.1	O00483	NDUA4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.177)	1	237	-			13					A4D109|Q6FHN5	Silent	SNP	ENST00000339600.5	37	c.39G>T	CCDS5357.1																																																																																				0.567	NDUFA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207507.3	NM_002489		11	913	1	0	0.000157383	0.000157383	0.000693142	11	913				
HERC5	51191	broad.mit.edu	37	4	89414249	89414249	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr4:89414249G>A	ENST00000264350.3	+	17	2373	c.2220G>A	c.(2218-2220)ccG>ccA	p.P740P	AC083829.1_ENST00000408152.2_RNA|HERC5_ENST00000508159.1_Silent_p.P378P	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	740	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TGATCCAGCCGGAATATGGGA	0.443																																					Esophageal Squamous(39;887 1012 34045 50514)	ENST00000264350.3																			0				NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53						c.(2218-2220)ccG>ccA		HECT and RLD domain containing E3 ubiquitin protein ligase 5							189.0	166.0	174.0					4																	89414249		2203	4300	6503	SO:0001819	synonymous_variant	51191				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	g.chr4:89414249G>A	AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"""hect domain and RLD 5"""			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.2220G>A	4.37:g.89414249G>A						HERC5_ENST00000508159.1_Silent_p.P378P	p.P740P	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000209)	17	2373	+		Hepatocellular(203;0.114)	740			HECT.		B2RTQ1|Q69G20	Silent	SNP	ENST00000264350.3	37	c.2220G>A	CCDS3630.1																																																																																				0.443	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323		28	336	0	0	0	0.00209593	0	28	336				
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(379-381)agT>agA		aquaporin 7							36.0	43.0	41.0					9																	33385614		2199	4296	6495	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385614A>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.381T>A	9.37:g.33385614A>T	ENSP00000438860:p.Ser127Arg					AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron	p.S127R			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	830	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.381T>A		.	.	.	.	.	.	.	.	.	.	a	7.886	0.731251	0.15507	.	.	ENSG00000165269	ENST00000541274	T	0.54479	0.57	3.27	-5.32	0.02722	.	.	.	.	.	T	0.32164	0.0820	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.25710	-1.0124	8	0.87932	D	0	.	2.0158	0.03497	0.1768:0.1404:0.4062:0.2767	.	127	B7Z7F6	.	R	127	ENSP00000438860:S127R	ENSP00000438860:S127R	S	-	3	2	AQP7	33375614	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.696000	0.05104	-1.265000	0.02449	0.449000	0.29647	AGT		0.632	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		7	218	0	0	0	0.000157383	0	7	218				
PSG6	5675	broad.mit.edu	37	19	43411250	43411250	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:43411250G>A	ENST00000292125.2	-	5	1108	c.1064C>T	c.(1063-1065)gCg>gTg	p.A355V	PSG6_ENST00000187910.2_Missense_Mutation_p.A355V|PSG6_ENST00000402603.4_Missense_Mutation_p.A262V	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	355	Ig-like C2-type 3.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GTTAGAGTCCGCAAAGCAGGA	0.448																																						ENST00000187910.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(1063-1065)gCg>gTg		pregnancy specific beta-1-glycoprotein 6							185.0	196.0	192.0					19																	43411250		2201	4299	6500	SO:0001583	missense	5675							g.chr19:43411250G>A		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.1064C>T	19.37:g.43411250G>A	ENSP00000292125:p.Ala355Val					PSG6_ENST00000402603.4_Missense_Mutation_p.A262V|PSG6_ENST00000292125.2_Missense_Mutation_p.A355V	p.A355V	NM_001031850.3	NP_001027020.1					5	1129	-		Prostate(69;0.00899)						O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	ENST00000292125.2	37	c.1064C>T	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	N	9.184	1.024244	0.19433	.	.	ENSG00000170848	ENST00000187910;ENST00000402603;ENST00000292125	T;T;T	0.14144	2.53;2.53;2.53	1.54	1.54	0.23209	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.13500	0.0327	L	0.50847	1.595	0.09310	N	0.999998	B;B;B	0.34372	0.132;0.292;0.451	B;B;B	0.36244	0.184;0.22;0.185	T	0.20840	-1.0263	9	0.59425	D	0.04	.	6.5495	0.22425	0.0:0.0:1.0:0.0	.	355;355;262	Q00889;Q00889-2;B5MCE1	PSG6_HUMAN;.;.	V	355;262;355	ENSP00000187910:A355V;ENSP00000385736:A262V;ENSP00000292125:A355V	ENSP00000187910:A355V	A	-	2	0	PSG6	48103090	0.001000	0.12720	0.002000	0.10522	0.014000	0.08584	0.729000	0.26028	0.854000	0.35336	0.134000	0.15878	GCG		0.448	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		8	1079	0	0	0	0.00116845	0	8	1079				
SREK1IP1	285672	broad.mit.edu	37	5	64023957	64023957	+	Silent	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:64023957G>T	ENST00000513458.4	-	4	422	c.255C>A	c.(253-255)atC>atA	p.I85I		NM_173829.3	NP_776190.1	Q8N9Q2	SR1IP_HUMAN	SREK1-interacting protein 1	85	Lys-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)		nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6						ttttcaatttgattttttctt	0.269																																						ENST00000513458.4																			0				breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6						c.(253-255)atC>atA		SREK1-interacting protein 1							17.0	21.0	19.0					5																	64023957		2130	4185	6315	SO:0001819	synonymous_variant	285672				mRNA processing|RNA splicing		nucleic acid binding|zinc ion binding	g.chr5:64023957G>T	AK094073	CCDS34171.1	5q12.3	2010-09-20	2010-09-20	2010-09-20	ENSG00000153006	ENSG00000153006			26716	protein-coding gene	gene with protein product	"""p18 splicing regulatory protein"""		"""SFRS12-interacting protein 1"""	SFRS12IP1		15456940	Standard	NM_173829		Approved	FLJ36754, P18SRP	uc003jtk.3	Q8N9Q2	OTTHUMG00000162291	ENST00000513458.4:c.255C>A	5.37:g.64023957G>T							p.I85I	NM_173829.3	NP_776190.1	Q8N9Q2	SR1IP_HUMAN			4	422	-			85			Lys-rich.		Q32NC8	Silent	SNP	ENST00000513458.4	37	c.255C>A	CCDS34171.1																																																																																				0.269	SREK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368457.4	NM_173829		6	102	1	0	5.18039e-06	0.000157383	2.43363e-05	6	102				
BSND	7809	broad.mit.edu	37	1	55470697	55470697	+	Silent	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:55470697C>T	ENST00000371265.4	+	2	434	c.180C>T	c.(178-180)atC>atT	p.I60I		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	barttin CLCNK-type chloride channel accessory beta subunit	60					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride channel activity (GO:0005254)|chloride channel regulator activity (GO:0017081)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						GCTTGCAGATCACCTTCGTCC	0.577																																					Ovarian(191;1657 2078 22894 42033 48899)	ENST00000371265.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(178-180)atC>atT		Bartter syndrome, infantile, with sensorineural deafness (Barttin)							114.0	94.0	101.0					1																	55470697		2203	4300	6503	SO:0001819	synonymous_variant	7809					basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex		g.chr1:55470697C>T	AY034632	CCDS602.1	1p32.3	2014-06-17	2014-06-17		ENSG00000162399	ENSG00000162399			16512	protein-coding gene	gene with protein product		606412	"""deafness, autosomal recessive 73"", ""Bartter syndrome, infantile, with sensorineural deafness (Barttin)"""	DFNB73		11687798, 11734858, 19646679	Standard	NM_057176		Approved	BART	uc001cye.3	Q8WZ55	OTTHUMG00000008112	ENST00000371265.4:c.180C>T	1.37:g.55470697C>T							p.I60I	NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN			2	434	+			60					Q6NT28	Silent	SNP	ENST00000371265.4	37	c.180C>T	CCDS602.1																																																																																				0.577	BSND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022213.4	NM_057176		61	85	0	0	0	0.000781405	0	61	85				
SSX9	280660	broad.mit.edu	37	X	48161191	48161191	+	RNA	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:48161191C>T	ENST00000608568.1	-	0	373					NR_073393.1		Q7RTT3	SSX9_HUMAN	synovial sarcoma, X breakpoint 9						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						CATCTGAGAACGTTCAACTGC	0.448																																						ENST00000376909.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						c.(286-288)cGt>cAt									127.0	120.0	123.0					X																	48161191		2203	4299	6502			0							g.chrX:48161191C>T	BK000689		Xp11.23	2013-01-16			ENSG00000204648	ENSG00000204648			19655	other	unknown		300544				12216073	Standard	NR_073393		Approved		uc031tjk.1	Q7RTT3	OTTHUMG00000021490		X.37:g.48161191C>T						SSX9_ENST00000407081.2_Missense_Mutation_p.R96H	p.R96H							5	349	-									Missense_Mutation	SNP	ENST00000608568.1	37	c.287G>A		.	.	.	.	.	.	.	.	.	.	c	1.372	-0.585823	0.03827	.	.	ENSG00000204648	ENST00000376909;ENST00000407081	T;T	0.08720	3.06;3.06	1.21	0.252	0.15545	.	2.729110	0.01808	N	0.033290	T	0.04634	0.0126	.	.	.	0.09310	N	1	B	0.13594	0.008	B	0.08055	0.003	T	0.35001	-0.9806	9	0.13108	T	0.6	.	4.7519	0.13064	0.0:0.4129:0.5871:0.0	.	96	Q7RTT3	SSX9_HUMAN	H	96	ENSP00000366107:R96H;ENSP00000385293:R96H	ENSP00000366107:R96H	R	-	2	0	SSX9	48046135	0.000000	0.05858	0.002000	0.10522	0.101000	0.19017	-1.059000	0.03479	0.012000	0.14892	0.171000	0.16805	CGT		0.448	SSX9-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000472372.1	NR_073393		7	833	0	0	0	0.00198382	0	7	833				
ZNF709	163051	broad.mit.edu	37	19	12575884	12575884	+	Silent	SNP	T	T	C	rs200559980		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:12575884T>C	ENST00000397732.3	-	4	1023	c.852A>G	c.(850-852)caA>caG	p.Q284Q	ZNF709_ENST00000428311.1_Silent_p.Q284Q|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	284					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						CTTTACCACATTGCTTACACT	0.373													T|||	1	0.000199681	0.0	0.0	5008	,	,		20833	0.001		0.0	False		,,,				2504	0.0				GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			0				large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(850-852)caA>caG		zinc finger protein 709							32.0	34.0	34.0					19																	12575884		2160	4279	6439	SO:0001819	synonymous_variant	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575884T>C	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.852A>G	19.37:g.12575884T>C						CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Silent_p.Q284Q	p.Q284Q	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	1023	-			284					A8K4E6	Silent	SNP	ENST00000397732.3	37	c.852A>G	CCDS42504.1																																																																																				0.373	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		142	268	0	0	0	0.000781405	0	142	268				
UNC79	57578	broad.mit.edu	37	14	94173190	94173190	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr14:94173190C>A	ENST00000393151.2	+	50	7848	c.7848C>A	c.(7846-7848)ttC>ttA	p.F2616L	UNC79_ENST00000256339.4_Missense_Mutation_p.F2439L|UNC79_ENST00000555664.1_Missense_Mutation_p.F2577L|UNC79_ENST00000553484.1_Missense_Mutation_p.F2638L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2616					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCACTCAGTTCAAAATGGCCC	0.577																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(7912-7914)ttC>ttA		unc-79 homolog (C. elegans)							73.0	76.0	75.0					14																	94173190		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94173190C>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.7848C>A	14.37:g.94173190C>A	ENSP00000376858:p.Phe2616Leu					UNC79_ENST00000393151.2_Missense_Mutation_p.F2616L|UNC79_ENST00000256339.4_Missense_Mutation_p.F2439L|UNC79_ENST00000555664.1_Missense_Mutation_p.F2577L	p.F2638L			Q9P2D8	UNC79_HUMAN			51	8068	+			2616					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.7914C>A		.	.	.	.	.	.	.	.	.	.	C	22.9	4.350856	0.82132	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.26660	1.72;1.78;1.72;1.72	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.38134	0.1029	L	0.55743	1.74	0.58432	D	0.999999	P	0.48230	0.907	P	0.54026	0.74	T	0.07539	-1.0767	10	0.87932	D	0	-24.3522	11.5318	0.50614	0.0:0.8938:0.0:0.1062	.	2638	C9JQL1	.	L	2439;2577;2638;2616;2638	ENSP00000256339:F2439L;ENSP00000450868:F2577L;ENSP00000451360:F2638L;ENSP00000376858:F2616L	ENSP00000256339:F2439L	F	+	3	2	KIAA1409	93242943	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.910000	0.56371	2.894000	0.99253	0.655000	0.94253	TTC		0.577	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		10	298	1	0	2.80697e-09	0.000978159	1.361e-08	10	298				
SSPO	23145	broad.mit.edu	37	7	149503953	149503953	+	RNA	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:149503953G>T	ENST00000378016.2	+	0	8777							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCCCCGGCTGCACCTGCCCC	0.657																																						ENST00000378016.2																			0													SCO-spondin							22.0	30.0	27.0					7																	149503953		1923	4114	6037			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149503953G>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149503953G>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	8777	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.657	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				20	74	1	0	1.10513e-12	0.00229938	5.45853e-12	20	74				
ABCC5	10057	broad.mit.edu	37	3	183663704	183663704	+	Silent	SNP	C	C	A	rs375899840		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:183663704C>A	ENST00000334444.6	-	24	3678	c.3438G>T	c.(3436-3438)acG>acT	p.T1146T	ABCC5_ENST00000265586.6_Silent_p.T1103T	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1146	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	CCAGTCTGACCGTAAACTGGA	0.448																																						ENST00000334444.6																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3436-3438)acG>acT		ATP-binding cassette, sub-family C (CFTR/MRP), member 5							238.0	227.0	230.0					3																	183663704		1934	4149	6083	SO:0001819	synonymous_variant	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183663704C>A	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.3438G>T	3.37:g.183663704C>A						ABCC5_ENST00000265586.6_Silent_p.T1103T	p.T1146T	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		24	3678	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		1146			ABC transmembrane type-1 2.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Silent	SNP	ENST00000334444.6	37	c.3438G>T	CCDS43176.1																																																																																				0.448	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		7	834	1	0	1.12685e-05	0.000274275	5.24705e-05	7	834				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687																																						ENST00000432432.2																			1	Substitution - coding silent(1)	p.K44K(1)	prostate(1)																																																0							g.chr2:95522786T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522786T>C								NR_040113.1						0	241	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.687	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			5	252	0	0	0	0.000157383	0	5	252				
ASS1	445	broad.mit.edu	37	9	133355188	133355188	+	Splice_Site	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr9:133355188G>A	ENST00000372394.1	+	11	1254		c.e11+1		ASS1_ENST00000372393.3_Splice_Site|ASS1_ENST00000493984.2_Splice_Site|ASS1_ENST00000352480.5_Splice_Site			P00966	ASSY_HUMAN	argininosuccinate synthase 1						acute-phase response (GO:0006953)|aging (GO:0007568)|arginine biosynthetic process (GO:0006526)|argininosuccinate metabolic process (GO:0000053)|aspartate metabolic process (GO:0006531)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to amine stimulus (GO:0071418)|cellular response to amino acid stimulus (GO:0071230)|cellular response to ammonium ion (GO:0071242)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to interferon-gamma (GO:0071346)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oleic acid (GO:0071400)|cellular response to tumor necrosis factor (GO:0071356)|citrulline metabolic process (GO:0000052)|diaphragm development (GO:0060539)|kidney development (GO:0001822)|liver development (GO:0001889)|midgut development (GO:0007494)|negative regulation of leukocyte cell-cell adhesion (GO:1903038)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to mycotoxin (GO:0010046)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|perikaryon (GO:0043204)	amino acid binding (GO:0016597)|argininosuccinate synthase activity (GO:0004055)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|toxic substance binding (GO:0015643)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	ACGAAGTCGCGTGAGTGTCTG	0.617																																						ENST00000372394.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17						c.e11+1		argininosuccinate synthase 1	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)						71.0	62.0	65.0					9																	133355188		2203	4300	6503	SO:0001630	splice_region_variant	445				arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding	g.chr9:133355188G>A	X01630	CCDS6933.1	9q34.1	2012-10-02	2010-04-20	2006-08-24	ENSG00000130707	ENSG00000130707	6.3.4.5		758	protein-coding gene	gene with protein product		603470	"""argininosuccinate synthetase"""	ASS		3513483, 852520	Standard	NM_054012		Approved	CTLN1	uc004bzm.3	P00966	OTTHUMG00000020806	ENST00000372394.1:c.773+1G>A	9.37:g.133355188G>A						ASS1_ENST00000493984.2_Splice_Site|ASS1_ENST00000372393.3_Splice_Site|ASS1_ENST00000352480.5_Splice_Site				P00966	ASSY_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000514)	11	1254	+								Q6LDL2|Q86UZ0|Q96GT4	Splice_Site	SNP	ENST00000372394.1	37		CCDS6933.1	.	.	.	.	.	.	.	.	.	.	G	7.670	0.686809	0.14973	.	.	ENSG00000130707	ENST00000334909;ENST00000352480;ENST00000372394;ENST00000372393	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0774	0.86590	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ASS1	132345009	1.000000	0.71417	0.999000	0.59377	0.096000	0.18686	8.569000	0.90744	2.270000	0.75569	0.467000	0.42956	.		0.617	ASS1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054652.1	NM_000050	Intron	16	178	0	0	0	0.000308642	0	16	178				
PCDH15	65217	broad.mit.edu	37	10	55849770	55849770	+	Silent	SNP	A	A	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:55849770A>G	ENST00000320301.6	-	16	2365	c.1971T>C	c.(1969-1971)ccT>ccC	p.P657P	PCDH15_ENST00000395432.2_Silent_p.P620P|PCDH15_ENST00000373955.1_Silent_p.P657P|PCDH15_ENST00000395445.1_Silent_p.P664P|PCDH15_ENST00000395430.1_Silent_p.P657P|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Silent_p.P268P|PCDH15_ENST00000373957.3_Silent_p.P635P|PCDH15_ENST00000373965.2_Silent_p.P664P|PCDH15_ENST00000395438.1_Silent_p.P657P|PCDH15_ENST00000361849.3_Silent_p.P657P|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000395433.1_Silent_p.P635P|PCDH15_ENST00000395446.1_Silent_p.P657P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Silent_p.P662P	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	657	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)				AAACTCTCTGAGGATCTCCAT	0.338										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.(1990-1992)ccT>ccC		protocadherin-related 15							64.0	66.0	66.0					10																	55849770		2203	4298	6501	SO:0001819	synonymous_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.chr10:55849770A>G	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.1971T>C	10.37:g.55849770A>G		HNSCC(58;0.16)				PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Silent_p.P635P|PCDH15_ENST00000373955.1_Silent_p.P657P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Silent_p.P657P|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000395438.1_Silent_p.P657P|PCDH15_ENST00000414778.1_Silent_p.P662P|PCDH15_ENST00000373957.3_Silent_p.P635P|PCDH15_ENST00000395445.1_Silent_p.P664P|PCDH15_ENST00000395430.1_Silent_p.P657P|PCDH15_ENST00000409834.1_Silent_p.P268P|PCDH15_ENST00000320301.6_Silent_p.P657P|PCDH15_ENST00000361849.3_Silent_p.P657P|PCDH15_ENST00000395432.2_Silent_p.P620P	p.P664P	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			17	2386	-		Melanoma(3;0.117)|Lung SC(717;0.238)	657			Cadherin 6.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	c.1992T>C	CCDS7248.1																																																																																				0.338	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		14	649	0	0	0	0.000422831	0	14	649				
MCU	90550	broad.mit.edu	37	10	74631317	74631317	+	Silent	SNP	A	A	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:74631317A>T	ENST00000373053.3	+	6	861	c.840A>T	c.(838-840)gcA>gcT	p.A280A	MCU_ENST00000605416.1_3'UTR|MCU_ENST00000357157.6_Silent_p.A259A|MCU_ENST00000536019.1_Silent_p.A231A	NM_138357.2	NP_612366.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	280					calcium ion transmembrane import into mitochondrion (GO:0036444)|calcium-mediated signaling (GO:0019722)|glucose homeostasis (GO:0042593)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein complex oligomerization (GO:0035786)	calcium channel complex (GO:0034704)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|uniplex complex (GO:1990246)	calcium channel activity (GO:0005262)|uniporter activity (GO:0015292)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						CAATGTATGCATATTTTGTAA	0.378																																						ENST00000536019.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						c.(691-693)gcA>gcT		mitochondrial calcium uniporter							103.0	97.0	99.0					10																	74631317		2203	4300	6503	SO:0001819	synonymous_variant	90550				elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding	g.chr10:74631317A>T	BC034235	CCDS7317.1, CCDS59218.1, CCDS59219.1	10q22.2	2011-06-23	2011-06-23	2011-06-23	ENSG00000156026	ENSG00000156026			23526	protein-coding gene	gene with protein product		614197	"""coiled-coil domain containing 109A"""	C10orf42, CCDC109A		21685886, 21685888	Standard	NM_138357		Approved	FLJ46135	uc001jtc.3	Q8NE86	OTTHUMG00000018443	ENST00000373053.3:c.840A>T	10.37:g.74631317A>T						MCU_ENST00000357157.6_Silent_p.A259A|MCU_ENST00000605416.1_3'UTR|MCU_ENST00000373053.3_Silent_p.A280A	p.A231A	NM_001270680.1	NP_001257609.1	Q8NE86	MCU_HUMAN			6	1138	+			280					B2RDF3|B3KXV7|Q96FL3	Silent	SNP	ENST00000373053.3	37	c.693A>T	CCDS7317.1																																																																																				0.378	MCU-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048594.1	NM_138357		7	340	0	0	0	0.00198382	0	7	340				
PPFIA1	8500	broad.mit.edu	37	11	70171012	70171012	+	Silent	SNP	C	C	A	rs144282210		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:70171012C>A	ENST00000253925.7	+	4	641	c.426C>A	c.(424-426)acC>acA	p.T142T	CTA-797E19.2_ENST00000526017.1_RNA|AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.T142T	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	142					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)	p.T142T(1)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TTAGGATGACCGTGGTGAAGA	0.473																																						ENST00000253925.7																			1	Substitution - coding silent(1)	p.T142T(1)	lung(1)	breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65						c.(424-426)acC>acA		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1							132.0	137.0	135.0					11																	70171012		2200	4294	6494	SO:0001819	synonymous_variant	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70171012C>A	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.426C>A	11.37:g.70171012C>A						CTA-797E19.2_ENST00000526017.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.T142T|AP000487.6_ENST00000528607.1_RNA	p.T142T	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		4	641	+			142					A6NLE3|Q13135|Q14567|Q8N4I2	Silent	SNP	ENST00000253925.7	37	c.426C>A	CCDS31627.1																																																																																				0.473	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		8	765	1	0	0.000274275	0.000274275	0.00119304	8	765				
CRISPLD2	83716	broad.mit.edu	37	16	84914128	84914128	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr16:84914128G>A	ENST00000262424.5	+	13	1467	c.1243G>A	c.(1243-1245)Gca>Aca	p.A415T	CRISPLD2_ENST00000564567.1_Missense_Mutation_p.A415T|CRISPLD2_ENST00000567845.1_Missense_Mutation_p.A414T	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	415	LCCL 2. {ECO:0000255|PROSITE- ProRule:PRU00123}.				extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|lung development (GO:0030324)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|transport vesicle (GO:0030133)	heparin binding (GO:0008201)	p.A415P(1)		endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						CCATTGTCCGGCACACTGCAA	0.433																																						ENST00000262424.5																			1	Substitution - Missense(1)	p.A415P(1)	lung(1)	endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						c.(1243-1245)Gca>Aca		cysteine-rich secretory protein LCCL domain containing 2							178.0	168.0	172.0					16																	84914128		2199	4300	6499	SO:0001583	missense	83716					extracellular region|transport vesicle		g.chr16:84914128G>A	AL136861	CCDS10949.1	16q24.1	2008-02-05	2005-02-16	2005-02-16	ENSG00000103196	ENSG00000103196			25248	protein-coding gene	gene with protein product		612434	"""LCCL domain containing cysteine-rich secretory protein 2"""	LCRISP2		11230166	Standard	NM_031476		Approved	DKFZP434B044	uc010voh.1	Q9H0B8	OTTHUMG00000137644	ENST00000262424.5:c.1243G>A	16.37:g.84914128G>A	ENSP00000262424:p.Ala415Thr					CRISPLD2_ENST00000567845.1_Missense_Mutation_p.A414T|CRISPLD2_ENST00000564567.1_Missense_Mutation_p.A415T	p.A415T	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN			13	1467	+			415			LCCL 2.		D3DUM0|Q6P590|Q6UWH0|Q6UXC6|Q96IB1|Q96K61	Missense_Mutation	SNP	ENST00000262424.5	37	c.1243G>A	CCDS10949.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.729979	0.30684	.	.	ENSG00000103196	ENST00000262424	D	0.90261	-2.64	5.25	2.08	0.27032	LCCL (5);	0.260679	0.39909	N	0.001226	D	0.90638	0.7064	M	0.88031	2.925	0.39557	D	0.96906	P;B	0.41366	0.747;0.317	B;B	0.44108	0.441;0.124	D	0.85611	0.1258	10	0.32370	T	0.25	.	5.2677	0.15607	0.0815:0.143:0.6276:0.1478	.	415;415	Q9H0B8;Q9H0B8-2	CRLD2_HUMAN;.	T	415	ENSP00000262424:A415T	ENSP00000262424:A415T	A	+	1	0	CRISPLD2	83471629	0.990000	0.36364	0.002000	0.10522	0.003000	0.03518	2.458000	0.45014	0.167000	0.19631	0.655000	0.94253	GCA		0.433	CRISPLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269086.2	NM_031476		6	681	0	0	0	0.000157383	0	6	681				
GPC4	2239	broad.mit.edu	37	X	132445300	132445300	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:132445300C>A	ENST00000370828.3	-	4	1387	c.863G>T	c.(862-864)tGg>tTg	p.W288L	GPC4_ENST00000535467.1_Missense_Mutation_p.W218L	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	288					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GAAATTGTTCCATTCAAAATC	0.443																																						ENST00000370828.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28						c.(862-864)tGg>tTg		glypican 4							154.0	140.0	145.0					X																	132445300		2203	4300	6503	SO:0001583	missense	2239				anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chrX:132445300C>A	AF030186	CCDS14637.1	Xq26.1	2008-02-05			ENSG00000076716	ENSG00000076716		"""Proteoglycans / Cell Surface : Glypicans"""	4452	protein-coding gene	gene with protein product	"""glypican proteoglycan 4"""	300168				9787072	Standard	NM_001448		Approved	K-glypican	uc004exc.1	O75487	OTTHUMG00000022434	ENST00000370828.3:c.863G>T	X.37:g.132445300C>A	ENSP00000359864:p.Trp288Leu					GPC4_ENST00000535467.1_Missense_Mutation_p.W218L	p.W288L	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN			4	1387	-	Acute lymphoblastic leukemia(192;0.000127)		288					B2R6J7|B4E2C0|Q6ZMA6|Q96L43|Q9NU08|Q9UJN1|Q9UPD9	Missense_Mutation	SNP	ENST00000370828.3	37	c.863G>T	CCDS14637.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.763050	0.89932	.	.	ENSG00000076716	ENST00000370828;ENST00000536418;ENST00000535467	T;T	0.80566	-1.39;-1.39	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.91432	0.7296	M	0.90082	3.085	0.80722	D	1	D	0.63880	0.993	D	0.69142	0.962	D	0.93066	0.6478	10	0.87932	D	0	-19.8545	17.5641	0.87914	0.0:1.0:0.0:0.0	.	288	O75487	GPC4_HUMAN	L	288;282;218	ENSP00000359864:W288L;ENSP00000444959:W218L	ENSP00000359864:W288L	W	-	2	0	GPC4	132272966	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.754000	0.85163	2.363000	0.80096	0.600000	0.82982	TGG		0.443	GPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058338.1	NM_001448		51	732	1	0	3.4597e-24	0.000781405	1.7752e-23	51	732				
DDB1	1642	broad.mit.edu	37	11	61083828	61083828	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:61083828C>A	ENST00000301764.7	-	12	1736	c.1339G>T	c.(1339-1341)Gaa>Taa	p.E447*	DDB1_ENST00000545930.1_5'UTR|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	447	Interaction with CDT1.|WD repeat beta-propeller B; Interaction with CUL4A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CCCATCAGTTCGGTTTCTTCT	0.517								Nucleotide excision repair (NER)																														ENST00000301764.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(1339-1341)Gaa>Taa	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa							196.0	180.0	185.0					11																	61083828		2203	4299	6502	SO:0001587	stop_gained	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61083828C>A	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.1339G>T	11.37:g.61083828C>A	ENSP00000301764:p.Glu447*					DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR	p.E447*	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN			12	1736	-			447			Interaction with CDT1.|Interaction with CUL4A.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Nonsense_Mutation	SNP	ENST00000301764.7	37	c.1339G>T	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	C	42	9.381356	0.99155	.	.	ENSG00000167986	ENST00000301764;ENST00000537877;ENST00000535967;ENST00000539739;ENST00000535174	.	.	.	5.35	5.35	0.76521	.	0.046308	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-16.5751	19.0687	0.93123	0.0:1.0:0.0:0.0	.	.	.	.	X	447;11;98;166;230	.	ENSP00000301764:E447X	E	-	1	0	DDB1	60840404	1.000000	0.71417	0.893000	0.35052	0.968000	0.65278	7.797000	0.85911	2.522000	0.85027	0.655000	0.94253	GAA		0.517	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		7	834	1	0	0.000157383	0.000157383	0.000693142	7	834				
SAMD9L	219285	broad.mit.edu	37	7	92764937	92764937	+	Silent	SNP	T	T	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:92764937T>C	ENST00000318238.4	-	5	1564	c.348A>G	c.(346-348)tcA>tcG	p.S116S	SAMD9L_ENST00000411955.1_Silent_p.S116S|SAMD9L_ENST00000437805.1_Silent_p.S116S	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	116					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CAATATTAGATGACATTGAAT	0.323																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(346-348)tcA>tcG		sterile alpha motif domain containing 9-like							107.0	118.0	114.0					7																	92764937		2203	4300	6503	SO:0001819	synonymous_variant	219285							g.chr7:92764937T>C	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.348A>G	7.37:g.92764937T>C						SAMD9L_ENST00000437805.1_Silent_p.S116S|SAMD9L_ENST00000411955.1_Silent_p.S116S	p.S116S	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	1564	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		116					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Silent	SNP	ENST00000318238.4	37	c.348A>G	CCDS34681.1																																																																																				0.323	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		131	286	0	0	0	0.000781405	0	131	286				
PCDHA2	56146	broad.mit.edu	37	5	140176038	140176038	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:140176038C>T	ENST00000526136.1	+	1	1489	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.R497W|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R497W|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	497	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGTGGAGCGGCGGGTGGG	0.672																																						ENST00000526136.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(1489-1491)Cgg>Tgg									53.0	57.0	56.0					5																	140176038		2203	4300	6503	SO:0001583	missense	0							g.chr5:140176038C>T	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1489C>T	5.37:g.140176038C>T	ENSP00000431748:p.Arg497Trp					PCDHA2_ENST00000520672.2_Missense_Mutation_p.R497W|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R497W|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.R497W	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1489	+								O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.1489C>T	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	c	16.53	3.149674	0.57151	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.52295	0.67;0.67;0.67	4.05	2.03	0.26663	Cadherin (4);Cadherin-like (1);	0.194082	0.23035	U	0.052684	T	0.58018	0.2093	M	0.63208	1.945	0.24455	N	0.994467	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.75484	0.959;0.986;0.959	T	0.44620	-0.9316	10	0.87932	D	0	.	4.5007	0.11863	0.3983:0.4929:0.0:0.1087	.	497;497;497	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	W	497	ENSP00000430584:R497W;ENSP00000367372:R497W;ENSP00000431748:R497W	ENSP00000367372:R497W	R	+	1	2	PCDHA2	140156222	0.000000	0.05858	0.998000	0.56505	0.939000	0.58152	-0.526000	0.06207	0.812000	0.34326	-0.195000	0.12781	CGG		0.672	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		7	355	0	0	0	0.000442599	0	7	355				
ZNF350	59348	broad.mit.edu	37	19	52469393	52469393	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:52469393C>A	ENST00000243644.4	-	5	540	c.313G>T	c.(313-315)Gaa>Taa	p.E105*	HCCAT3_ENST00000595010.1_RNA|HCCAT3_ENST00000600253.1_RNA|ZNF350_ENST00000600703.1_5'Flank	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	105					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		GCATCATGTTCATGACATGGT	0.363																																						ENST00000243644.4																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(313-315)Gaa>Taa		zinc finger protein 350							70.0	71.0	71.0					19																	52469393		2203	4299	6502	SO:0001587	stop_gained	59348				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding	g.chr19:52469393C>A	AF295096	CCDS12845.1	19q13.41	2013-05-23			ENSG00000256683	ENSG00000256683		"""Zinc fingers, C2H2-type"", ""-"""	16656	protein-coding gene	gene with protein product		605422				11090615, 11161714	Standard	NM_021632		Approved	ZBRK1, ZFQR	uc002pyd.3	Q9GZX5	OTTHUMG00000182538	ENST00000243644.4:c.313G>T	19.37:g.52469393C>A	ENSP00000243644:p.Glu105*					HCCAT3_ENST00000600253.1_RNA|HCCAT3_ENST00000595010.1_RNA	p.E105*	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)	5	540	-		all_neural(266;0.0505)	105					Q96G73|Q9HAQ4	Nonsense_Mutation	SNP	ENST00000243644.4	37	c.313G>T	CCDS12845.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.054148	0.55218	.	.	ENSG00000256683	ENST00000243644	.	.	.	3.25	-3.54	0.04653	.	0.733993	0.11162	N	0.592957	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	4.1621	0.10289	0.0:0.3024:0.19:0.5075	.	.	.	.	X	105	.	ENSP00000243644:E105X	E	-	1	0	ZNF350	57161205	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.533000	0.06157	-0.395000	0.07715	-0.142000	0.14014	GAA		0.363	ZNF350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462278.1	NM_021632		8	541	1	0	0.000157383	0.000157383	0.000693142	8	541				
INA	9118	broad.mit.edu	37	10	105037160	105037160	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:105037160G>A	ENST00000369849.4	+	1	241	c.192G>A	c.(190-192)ctG>ctA	p.L64L		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	64	Head.				cell differentiation (GO:0030154)|neurofilament cytoskeleton organization (GO:0060052)|substantia nigra development (GO:0021762)	cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular space (GO:0005615)|neurofilament (GO:0005883)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GCCTCGGCCTGGCCTATCGCC	0.741																																						ENST00000369849.4																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13						c.(190-192)ctG>ctA		internexin neuronal intermediate filament protein, alpha							8.0	10.0	9.0					10																	105037160		1987	4030	6017	SO:0001819	synonymous_variant	9118				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton	g.chr10:105037160G>A	S78296	CCDS7545.1	10q24	2013-01-16			ENSG00000148798	ENSG00000148798		"""Intermediate filaments type IV"""	6057	protein-coding gene	gene with protein product		605338		NEF5		7769995	Standard	NM_032727		Approved	NF-66	uc001kws.3	Q16352	OTTHUMG00000018986	ENST00000369849.4:c.192G>A	10.37:g.105037160G>A							p.L64L	NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN		Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	1	241	+			64			Head.		B1AQK0|Q9BRC5	Silent	SNP	ENST00000369849.4	37	c.192G>A	CCDS7545.1																																																																																				0.741	INA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050145.1	NM_032727		18	58	0	0	0	0.00074312	0	18	58				
MRPS27	23107	broad.mit.edu	37	5	71533926	71533926	+	Missense_Mutation	SNP	A	A	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:71533926A>G	ENST00000261413.5	-	5	350	c.311T>C	c.(310-312)cTg>cCg	p.L104P	MRPS27_ENST00000515404.1_Missense_Mutation_p.L48P|MRPS27_ENST00000457646.4_Missense_Mutation_p.L48P|MRPS27_ENST00000522562.1_5'UTR|MRPS27_ENST00000513900.1_Missense_Mutation_p.L118P	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	104						mitochondrion (GO:0005739)|ribosome (GO:0005840)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		CCAGTTTCTCAGGTACCAGCA	0.413																																						ENST00000261413.5																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.(310-312)cTg>cCg		mitochondrial ribosomal protein S27							103.0	92.0	96.0					5																	71533926		2203	4300	6503	SO:0001583	missense	23107					mitochondrion|ribosome		g.chr5:71533926A>G	D87453	CCDS4013.1, CCDS68890.1, CCDS75257.1	5q13.2	2012-09-13			ENSG00000113048	ENSG00000113048		"""Mitochondrial ribosomal proteins / small subunits"""	14512	protein-coding gene	gene with protein product		611989					Standard	NM_015084		Approved	KIAA0264	uc003kbz.4	Q92552	OTTHUMG00000100951	ENST00000261413.5:c.311T>C	5.37:g.71533926A>G	ENSP00000261413:p.Leu104Pro					MRPS27_ENST00000522562.1_5'UTR|MRPS27_ENST00000515404.1_Missense_Mutation_p.L48P|MRPS27_ENST00000457646.4_Missense_Mutation_p.L48P|MRPS27_ENST00000513900.1_Missense_Mutation_p.L118P	p.L104P	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)	5	350	-		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)	104					B4DRT2|Q6P1S1	Missense_Mutation	SNP	ENST00000261413.5	37	c.311T>C	CCDS4013.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.518352	0.85495	.	.	ENSG00000113048	ENST00000261413;ENST00000457646;ENST00000513900;ENST00000508863;ENST00000515404	T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000001	T	0.75657	0.3879	M	0.75264	2.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.998	T	0.79317	-0.1853	10	0.87932	D	0	-18.2091	15.0979	0.72250	1.0:0.0:0.0:0.0	.	118;48;104	B4DRT2;D6RJC7;Q92552	.;.;RT27_HUMAN	P	104;48;118;48;48	ENSP00000261413:L104P;ENSP00000428120:L48P;ENSP00000426941:L118P;ENSP00000426176:L48P;ENSP00000427237:L48P	ENSP00000261413:L104P	L	-	2	0	MRPS27	71569682	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.771000	0.91751	1.970000	0.57323	0.374000	0.22700	CTG		0.413	MRPS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218560.2	NM_015084		6	663	0	0	0	0.00116845	0	6	663				
NKX2-5	1482	broad.mit.edu	37	5	172660081	172660081	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:172660081G>A	ENST00000329198.4	-	2	739	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	NKX2-5_ENST00000424406.2_3'UTR|NKX2-5_ENST00000521848.1_3'UTR	NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	156					adult heart development (GO:0007512)|apoptotic process involved in heart morphogenesis (GO:0003278)|atrial cardiac muscle cell development (GO:0055014)|atrial septum morphogenesis (GO:0060413)|atrioventricular node cell development (GO:0060928)|atrioventricular node cell fate commitment (GO:0060929)|BMP signaling pathway (GO:0030509)|bundle of His development (GO:0003166)|canonical Wnt signaling pathway (GO:0060070)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac ventricle formation (GO:0003211)|cell differentiation (GO:0030154)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|hemopoiesis (GO:0030097)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|pharyngeal system development (GO:0060037)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart contraction (GO:0045823)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription via serum response element binding (GO:0010735)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of voltage-gated calcium channel activity (GO:1901387)|proepicardium development (GO:0003342)|pulmonary myocardium development (GO:0003350)|Purkinje myocyte differentiation (GO:0003168)|regulation of cardiac muscle cell proliferation (GO:0060043)|regulation of cardiac muscle contraction (GO:0055117)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|sarcomere organization (GO:0045214)|septum secundum development (GO:0003285)|spleen development (GO:0048536)|thyroid gland development (GO:0030878)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|serum response element binding (GO:0010736)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TGCTTGAAGCGCCGCTCCAGC	0.677																																					Esophageal Squamous(72;810 1219 2387 13420 44943)	ENST00000329198.4																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12						c.(466-468)Cgc>Tgc		NK2 homeobox 5							16.0	14.0	15.0					5																	172660081		2203	4296	6499	SO:0001583	missense	0				adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding	g.chr5:172660081G>A	AB021133	CCDS4387.1, CCDS54949.1, CCDS54950.1	5q34	2014-09-17	2011-06-01	2002-10-04	ENSG00000183072	ENSG00000183072		"""Homeoboxes / ANTP class : NKL subclass"""	2488	protein-coding gene	gene with protein product	"""tinman paralog (Drosophila)"""	600584	"""cardiac-specific homeo box"", ""NK2 transcription factor related, locus 5 (Drosophila)"""	CSX, NKX2E		7665173, 8900537	Standard	NM_004387		Approved	CSX1, NKX2.5, NKX4-1	uc003mcm.2	P52952	OTTHUMG00000130522	ENST00000329198.4:c.466C>T	5.37:g.172660081G>A	ENSP00000327758:p.Arg156Cys					NKX2-5_ENST00000521848.1_3'UTR|NKX2-5_ENST00000424406.2_3'UTR	p.R156C	NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	739	-	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	156					A8K3K0|B4DNB6|E9PBU6	Missense_Mutation	SNP	ENST00000329198.4	37	c.466C>T	CCDS4387.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038907	0.75617	.	.	ENSG00000183072	ENST00000329198	D	0.96136	-3.92	4.12	3.16	0.36331	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.52532	D	0.000063	D	0.96589	0.8887	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96214	0.9155	10	0.87932	D	0	.	11.6702	0.51396	0.0:0.0:0.7125:0.2875	.	156	P52952	NKX25_HUMAN	C	156	ENSP00000327758:R156C	ENSP00000327758:R156C	R	-	1	0	NKX2-5	172592687	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.303000	0.51858	2.307000	0.77673	0.462000	0.41574	CGC		0.677	NKX2-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252942.2			8	61	0	0	0	0.000157383	0	8	61				
ZNF585B	92285	broad.mit.edu	37	19	37677796	37677796	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:37677796C>T	ENST00000532828.2	-	5	894	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	ZNF585B_ENST00000527838.1_Silent_p.*158*|ZNF585B_ENST00000531805.1_Missense_Mutation_p.E160K|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_5'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	215					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCACTACATTCATATAGTTTT	0.388																																					Melanoma(93;882 1454 18863 28917 48427)	ENST00000532828.2																			0				NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29						c.(643-645)Gaa>Aaa		zinc finger protein 585B							112.0	113.0	113.0					19																	37677796		2203	4300	6503	SO:0001583	missense	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37677796C>T	AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.643G>A	19.37:g.37677796C>T	ENSP00000433773:p.Glu215Lys					ZNF585B_ENST00000531805.1_Missense_Mutation_p.E160K|ZNF585B_ENST00000527838.1_Silent_p.*158*|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_5'UTR	p.E215K	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	894	-			215					Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	c.643G>A	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	C	0.207	-1.040081	0.02013	.	.	ENSG00000245680	ENST00000531805;ENST00000532828	T;T	0.19250	2.16;2.16	2.78	0.507	0.16967	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.683944	0.12041	N	0.505100	T	0.06280	0.0162	N	0.04148	-0.265	0.09310	N	0.999998	B;B	0.14438	0.006;0.01	B;B	0.12156	0.007;0.007	T	0.37267	-0.9713	10	0.08599	T	0.76	.	0.6148	0.00767	0.1968:0.3698:0.1925:0.2409	.	160;215	E9PQH3;Q52M93	.;Z585B_HUMAN	K	160;215	ENSP00000436774:E160K;ENSP00000433773:E215K	ENSP00000436774:E160K	E	-	1	0	ZNF585B	42369636	0.000000	0.05858	0.080000	0.20451	0.159000	0.22180	-2.725000	0.00808	0.069000	0.16605	-0.384000	0.06662	GAA		0.388	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		8	596	0	0	0	0.000274275	0	8	596				
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			8	254	0	0	0	0.000157383	0	8	254				
RPS6KA6	27330	broad.mit.edu	37	X	83362013	83362013	+	Missense_Mutation	SNP	G	G	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:83362013G>C	ENST00000262752.2	-	14	1154	c.1147C>G	c.(1147-1149)Cag>Gag	p.Q383E	RPS6KA6_ENST00000495332.1_5'Flank|RPS6KA6_ENST00000543399.1_Missense_Mutation_p.Q383E	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	383	AGC-kinase C-terminal.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TTGAAGAGCTGATGAGCATTT	0.343																																						ENST00000262752.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						c.(1147-1149)Cag>Gag		ribosomal protein S6 kinase, 90kDa, polypeptide 6							72.0	66.0	68.0					X																	83362013		2203	4300	6503	SO:0001583	missense	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83362013G>C	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.1147C>G	X.37:g.83362013G>C	ENSP00000262752:p.Gln383Glu					RPS6KA6_ENST00000543399.1_Missense_Mutation_p.Q383E	p.Q383E	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN			14	1154	-			383			AGC-kinase C-terminal.		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	ENST00000262752.2	37	c.1147C>G	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.280893	0.23392	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.50548	0.74;0.74	4.93	4.93	0.64822	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.115806	0.64402	D	0.000014	T	0.26738	0.0654	N	0.04148	-0.265	0.80722	D	1	B;B	0.12013	0.001;0.005	B;B	0.18263	0.021;0.015	T	0.12243	-1.0555	10	0.09843	T	0.71	.	17.563	0.87912	0.0:0.0:1.0:0.0	.	383;383	B7ZL90;Q9UK32	.;KS6A6_HUMAN	E	383	ENSP00000262752:Q383E;ENSP00000440830:Q383E	ENSP00000262752:Q383E	Q	-	1	0	RPS6KA6	83248669	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.577000	0.82486	2.162000	0.67917	0.600000	0.82982	CAG		0.343	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496		24	341	0	0	0	0.00278032	0	24	341				
CR1	1378	broad.mit.edu	37	1	207787753	207787753	+	Nonsense_Mutation	SNP	C	C	T	rs55749440		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:207787753C>T	ENST00000367049.4	+	40	6580	c.6580C>T	c.(6580-6582)Cga>Tga	p.R2194*	CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*|CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1744					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.R1749*(9)|p.R2194*(9)|p.R1744*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTTAGGTTCCGATTAAAAGG	0.423																																						ENST00000367049.4																			19	Substitution - Nonsense(19)	p.R1749*(9)|p.R2194*(9)|p.R1744*(1)	lung(6)|endometrium(6)|prostate(3)|kidney(2)|central_nervous_system(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(6580-6582)Cga>Tga		complement component (3b/4b) receptor 1 (Knops blood group)							103.0	94.0	97.0					1																	207787753		1868	4107	5975	SO:0001587	stop_gained	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207787753C>T	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6580C>T	1.37:g.207787753C>T	ENSP00000356016:p.Arg2194*					CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*|CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744*	p.R2194*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			40	6580	+			1744					Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Nonsense_Mutation	SNP	ENST00000367049.4	37	c.6580C>T	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	C	44	11.182593	0.99528	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	.	.	.	4.29	2.39	0.29439	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5152	0.27596	0.0:0.7891:0.0:0.2109	rs55749440	.	.	.	X	1744;1744;1744;1744;2194	.	ENSP00000356016:R2194X	R	+	1	2	CR1	205854376	0.129000	0.22400	0.370000	0.25965	0.352000	0.29268	0.213000	0.17521	0.518000	0.28383	0.436000	0.28706	CGA		0.423	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		10	261	0	0	0	0.000978159	0	10	261				
GNB1L	54584	broad.mit.edu	37	22	19794255	19794255	+	Missense_Mutation	SNP	T	T	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr22:19794255T>A	ENST00000329517.6	-	6	679	c.443A>T	c.(442-444)aAg>aTg	p.K148M	GNB1L_ENST00000403325.1_Missense_Mutation_p.K148M|GNB1L_ENST00000460402.1_5'UTR|GNB1L_ENST00000405009.1_Missense_Mutation_p.K148M	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	148					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					CACTGACGTCTTGGAGGGCAT	0.572																																						ENST00000329517.6																			0				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12						c.(442-444)aAg>aTg		guanine nucleotide binding protein (G protein), beta polypeptide 1-like							54.0	44.0	47.0					22																	19794255		2203	4300	6503	SO:0001583	missense	0				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular		g.chr22:19794255T>A	AF238328	CCDS13768.1	22q11.2	2013-05-21			ENSG00000185838	ENSG00000185838		"""WD repeat domain containing"""	4397	protein-coding gene	gene with protein product		610778				11072084	Standard	NM_053004		Approved	GY2, WDR14	uc002zqf.1	Q9BYB4	OTTHUMG00000150279	ENST00000329517.6:c.443A>T	22.37:g.19794255T>A	ENSP00000331313:p.Lys148Met					GNB1L_ENST00000405009.1_Missense_Mutation_p.K148M|GNB1L_ENST00000460402.1_5'UTR|GNB1L_ENST00000403325.1_Missense_Mutation_p.K148M	p.K148M	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN			6	679	-	Colorectal(54;0.0993)		148					Q9H2S2|Q9H4M4	Missense_Mutation	SNP	ENST00000329517.6	37	c.443A>T	CCDS13768.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.640031	0.87760	.	.	ENSG00000185838	ENST00000329517;ENST00000403325;ENST00000405009	T;T;T	0.40756	1.02;1.02;5.0	5.21	4.16	0.48862	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.128959	0.50627	U	0.000116	T	0.52273	0.1724	M	0.77103	2.36	0.49299	D	0.999779	D	0.56746	0.977	P	0.49887	0.625	T	0.57774	-0.7753	10	0.87932	D	0	-3.2795	11.353	0.49598	0.1361:0.0:0.0:0.8639	.	148	Q9BYB4	GNB1L_HUMAN	M	148	ENSP00000331313:K148M;ENSP00000385154:K148M;ENSP00000384626:K148M	ENSP00000331313:K148M	K	-	2	0	GNB1L	18174255	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.204000	0.65180	0.798000	0.33994	-0.333000	0.08304	AAG		0.572	GNB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075202.1			5	70	0	0	0	0.000157383	0	5	70				
FRG1B	284802	broad.mit.edu	37	20	29628320	29628320	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr20:29628320G>T	ENST00000278882.3	+	6	702	c.322G>T	c.(322-324)Gaa>Taa	p.E108*	FRG1B_ENST00000439954.2_Nonsense_Mutation_p.E113*|FRG1B_ENST00000358464.4_Nonsense_Mutation_p.E108*			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	108										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGGAGAAGAAGAAATGATCAA	0.373																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(322-324)Gaa>Taa																																						SO:0001587	stop_gained	0							g.chr20:29628320G>T			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.322G>T	20.37:g.29628320G>T	ENSP00000278882:p.Glu108*					FRG1B_ENST00000439954.2_Nonsense_Mutation_p.E113*|FRG1B_ENST00000358464.4_Nonsense_Mutation_p.E108*	p.E108*							6	702	+								C4AME5	Nonsense_Mutation	SNP	ENST00000278882.3	37	c.322G>T		.	.	.	.	.	.	.	.	.	.	g	21.0	4.076413	0.76415	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	.	.	.	2.08	2.08	0.27032	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	.	.	.	X	108;113;108	.	ENSP00000278882:E108X	E	+	1	0	FRG1B	28241981	1.000000	0.71417	1.000000	0.80357	0.425000	0.31504	6.601000	0.74136	1.475000	0.48197	0.423000	0.28283	GAA		0.373	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	323	1	0	1.3612e-06	0.000308642	6.51037e-06	7	323				
ZNF429	353088	broad.mit.edu	37	19	21720483	21720483	+	Missense_Mutation	SNP	G	G	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:21720483G>C	ENST00000358491.4	+	4	1836	c.1628G>C	c.(1627-1629)gGc>gCc	p.G543A	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	543					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						GAAGAATGTGGCAAAGCTTTT	0.363																																						ENST00000358491.4																			0				endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						c.(1627-1629)gGc>gCc		zinc finger protein 429							42.0	47.0	45.0					19																	21720483		2134	4270	6404	SO:0001583	missense	353088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21720483G>C	AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.1628G>C	19.37:g.21720483G>C	ENSP00000351280:p.Gly543Ala					ZNF429_ENST00000597078.1_Intron	p.G543A	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN			4	1836	+			543					A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	37	c.1628G>C	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	6.378	0.437817	0.12104	.	.	ENSG00000197013	ENST00000358491	T	0.07021	3.23	0.876	0.876	0.19138	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27559	0.0677	M	0.87682	2.9	0.23653	N	0.997196	D	0.89917	1.0	D	0.71414	0.973	T	0.04140	-1.0974	9	0.87932	D	0	.	6.65	0.22957	0.0:0.0:1.0:0.0	.	543	Q86V71	ZN429_HUMAN	A	543	ENSP00000351280:G543A	ENSP00000351280:G543A	G	+	2	0	ZNF429	21512323	1.000000	0.71417	0.272000	0.24630	0.271000	0.26615	3.895000	0.56258	0.293000	0.22520	0.298000	0.19748	GGC		0.363	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415		7	397	0	0	0	0.000442599	0	7	397				
MAGEB6	158809	broad.mit.edu	37	X	26213024	26213024	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:26213024G>A	ENST00000379034.1	+	2	1210	c.1061G>A	c.(1060-1062)tGc>tAc	p.C354Y		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	354	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GATCCTCCATGCTATGAGTTC	0.498																																						ENST00000379034.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(1060-1062)tGc>tAc		melanoma antigen family B, 6							66.0	64.0	64.0					X																	26213024		2202	4292	6494	SO:0001583	missense	158809							g.chrX:26213024G>A	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.1061G>A	X.37:g.26213024G>A	ENSP00000368320:p.Cys354Tyr						p.C354Y	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	1210	+			354			MAGE.		Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	c.1061G>A	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	G	5.430	0.264533	0.10294	.	.	ENSG00000176746	ENST00000379034	T	0.04706	3.57	3.29	-2.14	0.07123	.	0.617794	0.14414	U	0.321058	T	0.04770	0.0129	M	0.66439	2.03	0.09310	N	1	B	0.10296	0.003	B	0.17979	0.02	T	0.49881	-0.8892	10	0.08381	T	0.77	.	5.8566	0.18722	0.2283:0.511:0.2607:0.0	.	354	Q8N7X4	MAGB6_HUMAN	Y	354	ENSP00000368320:C354Y	ENSP00000368320:C354Y	C	+	2	0	MAGEB6	26122945	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.416000	0.02467	-0.702000	0.05056	-0.957000	0.02645	TGC		0.498	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		26	365	0	0	0	0.00209593	0	26	365				
ZNF208	7757	broad.mit.edu	37	19	22171676	22171676	+	Missense_Mutation	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:22171676G>T	ENST00000397126.4	-	2	187	c.39C>A	c.(37-39)ttC>ttA	p.F13L	ZNF208_ENST00000599916.1_Missense_Mutation_p.F13L|ZNF208_ENST00000597040.1_5'UTR|ZNF208_ENST00000601773.1_Missense_Mutation_p.F13L	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	13	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCTCCAGAGAGAATTCTATGG	0.408																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(37-39)ttC>ttA		zinc finger protein 208							121.0	131.0	128.0					19																	22171676		2203	4300	6503	SO:0001583	missense	7757							g.chr19:22171676G>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.39C>A	19.37:g.22171676G>T	ENSP00000380315:p.Phe13Leu					ZNF208_ENST00000601773.1_Missense_Mutation_p.F13L|ZNF208_ENST00000597040.1_5'UTR|ZNF208_ENST00000599916.1_Missense_Mutation_p.F13L	p.F13L	NM_007153.3	NP_009084.2					2	187	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.39C>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.805557	0.31961	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.12879	2.64	1.32	-0.37	0.12530	Krueppel-associated box (4);	.	.	.	.	T	0.22742	0.0549	.	.	.	0.09310	N	1	D;B	0.57571	0.98;0.087	P;B	0.60012	0.867;0.084	T	0.12785	-1.0534	8	0.72032	D	0.01	.	3.7697	0.08636	0.0:0.0:0.5735:0.4265	.	13;13	O43345;F8WEA0	ZN208_HUMAN;.	L	13	ENSP00000380315:F13L	ENSP00000380315:F13L	F	-	3	2	ZNF208	21963516	0.005000	0.15991	0.009000	0.14445	0.601000	0.36947	-0.135000	0.10420	0.636000	0.30508	0.281000	0.19383	TTC		0.408	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		23	805	1	0	2.39556e-15	0.00278032	1.21154e-14	23	805				
RNF43	54894	broad.mit.edu	37	17	56448366	56448366	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:56448366C>A	ENST00000584437.1	-	2	2236	c.281G>T	c.(280-282)aGt>aTt	p.S94I	RNF43_ENST00000577716.1_Missense_Mutation_p.S94I|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000583753.1_Intron|RNF43_ENST00000581868.1_5'UTR|RNF43_ENST00000500597.2_Intron|RNF43_ENST00000407977.2_Missense_Mutation_p.S94I|RNF43_ENST00000577625.1_5'UTR			Q68DV7	RNF43_HUMAN	ring finger protein 43	94					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTCGTCATCACTGGCATTGCA	0.582																																						ENST00000584437.1																			0				NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(280-282)aGt>aTt		ring finger protein 43							86.0	71.0	76.0					17																	56448366		2203	4300	6503	SO:0001583	missense	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56448366C>A		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.281G>T	17.37:g.56448366C>A	ENSP00000463069:p.Ser94Ile					RNF43_ENST00000577716.1_Missense_Mutation_p.S94I|RNF43_ENST00000500597.2_Intron|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_5'UTR|RNF43_ENST00000407977.2_Missense_Mutation_p.S94I|RNF43_ENST00000577625.1_5'UTR|RNF43_ENST00000583753.1_Intron	p.S94I			Q68DV7	RNF43_HUMAN			2	2236	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		94					A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	c.281G>T	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006071	0.93287	.	.	ENSG00000108375	ENST00000407977	T	0.47177	0.85	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.52597	0.1744	L	0.27053	0.805	0.80722	D	1	D	0.57257	0.979	P	0.60415	0.874	T	0.41787	-0.9489	10	0.22706	T	0.39	-22.6639	18.2765	0.90085	0.0:1.0:0.0:0.0	.	94	Q68DV7	RNF43_HUMAN	I	94	ENSP00000385328:S94I	ENSP00000385328:S94I	S	-	2	0	RNF43	53803365	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.495000	0.73665	2.555000	0.86185	0.655000	0.94253	AGT		0.582	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		59	112	1	0	2.43698e-19	0.000781405	1.23841e-18	59	112				
PCDHA9	9752	broad.mit.edu	37	5	140229544	140229544	+	Silent	SNP	C	C	G	rs527334652	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:140229544C>G	ENST00000532602.1	+	1	2497	c.1464C>G	c.(1462-1464)gcC>gcG	p.A488A	PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Silent_p.A488A	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	488	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGAACGCCCTGGTGTCCT	0.667													.|||	2	0.000399361	0.0015	0.0	5008	,	,		17639	0.0		0.0	False		,,,				2504	0.0				Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(1462-1464)gcC>gcG																																						SO:0001819	synonymous_variant	0							g.chr5:140229544C>G	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1464C>G	5.37:g.140229544C>G						PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.A488A|PCDHA1_ENST00000394633.3_Intron	p.A488A	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2188	+								O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	c.1464C>G	CCDS54920.1																																																																																				0.667	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		129	407	0	0	0	0.000781405	0	129	407				
NBPF10	100132406	broad.mit.edu	37	1	145359109	145359109	+	Missense_Mutation	SNP	T	T	A	rs3967942	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:145359109T>A	ENST00000342960.5	+	72	9084	c.9049T>A	c.(9049-9051)Tgt>Agt	p.C3017S	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	575						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.C3017S(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TCTTGAACTGTGTGACTCATG	0.483													.|||	520	0.103834	0.1944	0.1297	5008	,	,		8025	0.0357		0.0726	False		,,,				2504	0.0654					ENST00000342960.5																			1	Substitution - Missense(1)	p.C3017S(1)	endometrium(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(9049-9051)Tgt>Agt		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145359109T>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.9049T>A	1.37:g.145359109T>A	ENSP00000345684:p.Cys3017Ser					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.C3017S	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	72	9084	+	all_hematologic(923;0.032)		3017					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.9049T>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481396	0.00163	.	.	ENSG00000163386	ENST00000342960	T	0.05513	3.43	.	.	.	.	.	.	.	.	T	0.00412	0.0013	N	0.01640	-0.785	0.09310	N	1	.	.	.	.	.	.	T	0.44205	-0.9343	5	0.02654	T	1	.	.	.	.	rs3967942	.	.	.	S	3017	ENSP00000345684:C3017S	ENSP00000345684:C3017S	C	+	1	0	NBPF10	144070466	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	-0.392000	0.07314	-0.792000	0.04480	0.128000	0.15822	TGT		0.483	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		8	238	0	0	0	0.000442599	0	8	238				
SLC6A1	6529	broad.mit.edu	37	3	11058924	11058924	+	Silent	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:11058924C>T	ENST00000287766.4	+	3	448	c.27C>T	c.(25-27)gcC>gcT	p.A9A	SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000536032.1_5'UTR|SLC6A1_ENST00000462473.1_3'UTR	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	9					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	GCAAGGTGGCCGACGGGCAGA	0.632																																						ENST00000287766.4																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26						c.(25-27)gcC>gcT		solute carrier family 6 (neurotransmitter transporter), member 1	Cocaine(DB00907)|Tiagabine(DB00906)						46.0	43.0	44.0					3																	11058924		2203	4300	6503	SO:0001819	synonymous_variant	6529				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:11058924C>T		CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"""Solute carriers"""	11042	protein-coding gene	gene with protein product	"""GABA transporter 1"""	137165	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 1"""			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.27C>T	3.37:g.11058924C>T						SLC6A1_ENST00000462473.1_3'UTR|SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000536032.1_5'UTR	p.A9A	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	3	448	+		Ovarian(110;0.0392)	9					Q8N4K8	Silent	SNP	ENST00000287766.4	37	c.27C>T	CCDS2603.1																																																																																				0.632	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042		7	150	0	0	0	0.00198382	0	7	150				
MKI67	4288	broad.mit.edu	37	10	129905212	129905212	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:129905212C>T	ENST00000368654.3	-	13	5267	c.4892G>A	c.(4891-4893)cGa>cAa	p.R1631Q	MKI67_ENST00000368653.3_Missense_Mutation_p.R1271Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1631	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTTGAGCCGTCGCTTGGAGCT	0.502																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(4891-4893)cGa>cAa		marker of proliferation Ki-67							218.0	218.0	218.0					10																	129905212		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129905212C>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.4892G>A	10.37:g.129905212C>T	ENSP00000357643:p.Arg1631Gln					MKI67_ENST00000368653.3_Missense_Mutation_p.R1271Q	p.R1631Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	5267	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1631			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.4892G>A	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	8.711	0.912034	0.17907	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.03152	4.03;4.03	2.6	0.628	0.17681	.	0.461817	0.16195	N	0.225197	T	0.02230	0.0069	L	0.34521	1.04	0.09310	N	1	B;P;B	0.34562	0.053;0.457;0.275	B;B;B	0.22753	0.007;0.041;0.033	T	0.47355	-0.9124	10	0.25751	T	0.34	.	4.3863	0.11318	0.0:0.5705:0.1925:0.237	.	1630;1271;1631	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	Q	1631;1271;1630	ENSP00000357643:R1631Q;ENSP00000357642:R1271Q	ENSP00000357642:R1271Q	R	-	2	0	MKI67	129795202	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	1.262000	0.32992	0.166000	0.19597	-0.244000	0.11960	CGA		0.502	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		17	1032	0	0	0	0.00136819	0	17	1032				
CR1	1378	broad.mit.edu	37	1	207787831	207787831	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:207787831G>T	ENST00000367049.4	+	40	6658	c.6658G>T	c.(6658-6660)Gaa>Taa	p.E2220*	CR1_ENST00000367051.1_Nonsense_Mutation_p.E1770*|CR1_ENST00000367052.1_Nonsense_Mutation_p.E1770*|CR1_ENST00000400960.2_Nonsense_Mutation_p.E1770*|CR1_ENST00000367053.1_Nonsense_Mutation_p.E1770*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1770					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.E2220*(6)|p.E1775*(6)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TCCAGTGTGTGAACGTGAGTA	0.408																																						ENST00000367049.4																			12	Substitution - Nonsense(12)	p.E2220*(6)|p.E1775*(6)	kidney(8)|endometrium(4)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(6658-6660)Gaa>Taa		complement component (3b/4b) receptor 1 (Knops blood group)							131.0	122.0	125.0					1																	207787831		1887	4127	6014	SO:0001587	stop_gained	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207787831G>T	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6658G>T	1.37:g.207787831G>T	ENSP00000356016:p.Glu2220*					CR1_ENST00000367052.1_Nonsense_Mutation_p.E1770*|CR1_ENST00000367051.1_Nonsense_Mutation_p.E1770*|CR1_ENST00000400960.2_Nonsense_Mutation_p.E1770*|CR1_ENST00000367053.1_Nonsense_Mutation_p.E1770*	p.E2220*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			40	6658	+			1770					Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Nonsense_Mutation	SNP	ENST00000367049.4	37	c.6658G>T	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	G	45	12.061806	0.99632	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	.	.	.	4.29	4.29	0.51040	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	12.9543	0.58418	0.0:0.0:1.0:0.0	.	.	.	.	X	1770;1770;1770;1770;2220	.	ENSP00000356016:E2220X	E	+	1	0	CR1	205854454	1.000000	0.71417	0.999000	0.59377	0.893000	0.52053	2.536000	0.45693	2.316000	0.78162	0.436000	0.28706	GAA		0.408	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		10	310	1	0	1.3612e-06	0.000308642	6.51037e-06	10	310				
ANKRD2	26287	broad.mit.edu	37	10	99338074	99338074	+	Silent	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:99338074C>A	ENST00000307518.5	+	3	615	c.348C>A	c.(346-348)atC>atA	p.I116I	ANKRD2_ENST00000370655.1_Silent_p.I89I|ANKRD2_ENST00000455090.1_Silent_p.I89I|ANKRD2_ENST00000298808.5_Silent_p.I116I			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	116	May mediate interaction with PML, p53/TP53 and YBX1.				muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|euchromatin (GO:0000791)|I band (GO:0031674)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	protein kinase B binding (GO:0043422)|structural constituent of muscle (GO:0008307)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		AGAACCTCATCGAGCTGCGGA	0.662																																						ENST00000307518.5																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7						c.(346-348)atC>atA		ankyrin repeat domain 2 (stretch responsive muscle)							31.0	31.0	31.0					10																	99338074		2203	4300	6503	SO:0001819	synonymous_variant	26287				muscle contraction|muscle organ development		structural constituent of muscle	g.chr10:99338074C>A	AJ304805	CCDS7466.1, CCDS44468.1	10q23	2013-01-10			ENSG00000165887	ENSG00000165887		"""Ankyrin repeat domain containing"""	495	protein-coding gene	gene with protein product		610734				10873377, 15136035, 15677738	Standard	NM_001129981		Approved	ARPP	uc001knw.3	Q9GZV1	OTTHUMG00000018860	ENST00000307518.5:c.348C>A	10.37:g.99338074C>A						ANKRD2_ENST00000298808.5_Silent_p.I116I|ANKRD2_ENST00000455090.1_Silent_p.I89I|ANKRD2_ENST00000370655.1_Silent_p.I89I	p.I116I			Q9GZV1	ANKR2_HUMAN		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)	3	615	+		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)	116					Q3B778|Q5T456|Q70EZ9|Q8WUD7|Q96MG0|Q9NQC9	Silent	SNP	ENST00000307518.5	37	c.348C>A	CCDS7466.1																																																																																				0.662	ANKRD2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				39	146	1	0	8.01111e-26	0.0025221	4.13061e-25	39	146				
OR10G9	219870	broad.mit.edu	37	11	123894641	123894641	+	Missense_Mutation	SNP	T	T	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:123894641T>C	ENST00000375024.1	+	1	922	c.922T>C	c.(922-924)Tct>Cct	p.S308P		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	308						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AGTAGCACATTCTCAGGGAGA	0.358																																						ENST00000375024.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61						c.(922-924)Tct>Cct		olfactory receptor, family 10, subfamily G, member 9							71.0	68.0	69.0					11																	123894641		2201	4299	6500	SO:0001583	missense	219870				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123894641T>C	AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"""GPCR / Class A : Olfactory receptors"""	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.922T>C	11.37:g.123894641T>C	ENSP00000364164:p.Ser308Pro						p.S308P	NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	922	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	308						Missense_Mutation	SNP	ENST00000375024.1	37	c.922T>C	CCDS31703.1	.	.	.	.	.	.	.	.	.	.	T	5.525	0.281841	0.10458	.	.	ENSG00000236981	ENST00000375024	T	0.05382	3.45	3.48	2.33	0.28932	.	0.684276	0.12078	N	0.501557	T	0.04497	0.0123	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44236	-0.9341	10	0.24483	T	0.36	.	8.861	0.35258	0.0:0.0:0.2124:0.7876	.	308	Q8NGN4	O10G9_HUMAN	P	308	ENSP00000364164:S308P	ENSP00000364164:S308P	S	+	1	0	OR10G9	123399851	0.000000	0.05858	0.012000	0.15200	0.028000	0.11728	0.227000	0.17795	0.514000	0.28300	0.533000	0.62120	TCT		0.358	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	NM_001001953		5	327	0	0	0	0.00116845	0	5	327				
CACNA1D	776	broad.mit.edu	37	3	53736723	53736723	+	Missense_Mutation	SNP	C	C	T	rs554225579		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:53736723C>T	ENST00000350061.5	+	9	1787	c.1276C>T	c.(1276-1278)Cgg>Tgg	p.R426W	CACNA1D_ENST00000422281.2_Missense_Mutation_p.R426W|CACNA1D_ENST00000288139.4_Missense_Mutation_p.R426W	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	426					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCAGAAGCTCCGGGAGAAGCA	0.512													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20930	0.0		0.0	False		,,,				2504	0.0					ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(1276-1278)Cgg>Tgg		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						65.0	67.0	66.0					3																	53736723		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53736723C>T	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.1276C>T	3.37:g.53736723C>T	ENSP00000288133:p.Arg426Trp					CACNA1D_ENST00000350061.5_Missense_Mutation_p.R426W|CACNA1D_ENST00000422281.2_Missense_Mutation_p.R426W	p.R426W	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	9	1394	+			426					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.1276C>T	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.706827	0.89018	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	D;D;D;D	0.95756	-3.8;-3.8;-3.8;-3.8	5.39	5.39	0.77823	.	0.075737	0.53938	D	0.000056	D	0.98473	0.9491	H	0.96720	3.87	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.993;1.0;0.999;0.999	D	0.99007	1.0813	10	0.87932	D	0	.	14.2225	0.65836	0.149:0.8509:0.0:0.0	.	426;99;426;426	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	W	426;426;426;99	ENSP00000288133:R426W;ENSP00000288139:R426W;ENSP00000409174:R426W;ENSP00000418014:R99W	ENSP00000288139:R426W	R	+	1	2	CACNA1D	53711763	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	5.818000	0.69236	2.804000	0.96469	0.655000	0.94253	CGG		0.512	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		5	188	0	0	0	0.000602214	0	5	188				
NPIPB5	100132247	broad.mit.edu	37	16	22545865	22545865	+	Missense_Mutation	SNP	G	G	C	rs202011711	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr16:22545865G>C	ENST00000517539.1	+	8	1636	c.1561G>C	c.(1561-1563)Gcc>Ccc	p.A521P	NPIPB5_ENST00000424340.1_Missense_Mutation_p.A521P|NPIPB5_ENST00000415654.1_3'UTR			A8MRT5	NPIB5_HUMAN	nuclear pore complex interacting protein family, member B5	521	Pro-rich.					integral component of membrane (GO:0016021)											TCAGCTCACTGCCCTTCCACC	0.567																																						ENST00000424340.1																			0											c.(1561-1563)Gcc>Ccc		nuclear pore complex interacting protein family, member B5							15.0	10.0	11.0					16																	22545865		690	1587	2277	SO:0001583	missense	100132247							g.chr16:22545865G>C		CCDS45443.1	16p12.2	2013-06-11			ENSG00000243716	ENSG00000243716			37233	protein-coding gene	gene with protein product							Standard	NM_001135865		Approved			A8MRT5	OTTHUMG00000163573	ENST00000517539.1:c.1561G>C	16.37:g.22545865G>C	ENSP00000430633:p.Ala521Pro					NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000517539.1_Missense_Mutation_p.A521P	p.A521P	NM_001135865.1	NP_001129337.1					7	1840	+								B4DK13	Missense_Mutation	SNP	ENST00000517539.1	37	c.1561G>C	CCDS45443.1	.	.	.	.	.	.	.	.	.	.	.	0.575	-0.839534	0.02692	.	.	ENSG00000243716	ENST00000415833;ENST00000424340;ENST00000342168;ENST00000503072;ENST00000517539;ENST00000528249;ENST00000344223	T;T;T;T	0.18338	2.32;2.22;2.22;2.32	.	.	.	.	.	.	.	.	T	0.03136	0.0092	N	0.01352	-0.895	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.28618	-1.0038	7	0.08381	T	0.77	.	.	.	.	.	521;521	F5GWX0;A8MRT5	.;K220L_HUMAN	P	521;521;521;399;521;521;502	ENSP00000445388:A521P;ENSP00000440703:A521P;ENSP00000430633:A521P;ENSP00000431553:A521P	ENSP00000441680:A521P	A	+	1	0	RP11-368J21.2	22453366	.	.	0.003000	0.11579	0.003000	0.03518	.	.	-2.321000	0.00641	-2.362000	0.00238	GCC		0.567	NPIPB5-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374343.2	NM_001135865		7	1356	0	0	0	0.000157383	0	7	1356				
BCOR	54880	broad.mit.edu	37	X	39922163	39922163	+	Missense_Mutation	SNP	C	C	T	rs370685925		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:39922163C>T	ENST00000378444.4	-	9	4237	c.4009G>A	c.(4009-4011)Gaa>Aaa	p.E1337K	BCOR_ENST00000378463.1_Missense_Mutation_p.E180K|BCOR_ENST00000397354.3_Missense_Mutation_p.E1303K|BCOR_ENST00000378455.4_Missense_Mutation_p.E1285K|BCOR_ENST00000342274.4_Missense_Mutation_p.E1303K	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1337					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TCCTCTTCTTCGTCTGCACAC	0.532			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"""F, N, S, T"""	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"""retinoblastoma, AML, APL(translocation)"""		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(3907-3909)Gaa>Aaa		BCL6 corepressor		C	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	0,3833		0,0,0,1631,571	141.0	112.0	121.0		3907,3853,4009,3907	5.7	0.3	X		121	1,6727		0,0,1,2428,1871	no	missense,missense,missense,missense	BCOR	NM_001123383.1,NM_001123384.1,NM_001123385.1,NM_017745.5	56,56,56,56	0,0,1,4059,2442	TT,TC,T,CC,C		0.0149,0.0,0.0095	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1303/1722,1285/1704,1337/1756,1303/1722	39922163	1,10560	2202	4300	6502	SO:0001583	missense	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39922163C>T	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.4009G>A	X.37:g.39922163C>T	ENSP00000367705:p.Glu1337Lys					BCOR_ENST00000397354.3_Missense_Mutation_p.E1303K|BCOR_ENST00000378455.4_Missense_Mutation_p.E1285K|BCOR_ENST00000378444.4_Missense_Mutation_p.E1337K|BCOR_ENST00000378463.1_Missense_Mutation_p.E180K	p.E1303K	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			9	4269	-			1337					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	c.3907G>A	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518746	0.85495	0.0	1.49E-4	ENSG00000183337	ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000442018	T;T;T;T;T;T;T	0.70516	-0.42;0.97;1.0;0.98;0.93;0.98;-0.49	5.67	5.67	0.87782	.	.	.	.	.	T	0.75845	0.3905	N	0.19112	0.55	0.53005	D	0.999965	D;D;D	0.89917	1.0;1.0;0.997	D;D;P	0.78314	0.951;0.991;0.896	T	0.78889	-0.2026	9	0.56958	D	0.05	-10.0684	18.7655	0.91871	0.0:1.0:0.0:0.0	.	1285;1337;1303	Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;BCOR_HUMAN;.	K	207;180;1285;1303;1337;1303;10	ENSP00000408006:E207K;ENSP00000367724:E180K;ENSP00000367716:E1285K;ENSP00000380512:E1303K;ENSP00000367705:E1337K;ENSP00000345923:E1303K;ENSP00000387552:E10K	ENSP00000345923:E1303K	E	-	1	0	BCOR	39807107	1.000000	0.71417	0.350000	0.25708	0.966000	0.64601	3.518000	0.53451	2.376000	0.81061	0.600000	0.82982	GAA		0.532	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		8	138	0	0	0	0.000673444	0	8	138				
KSR2	283455	broad.mit.edu	37	12	118405988	118405988	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:118405988C>A	ENST00000339824.5	-	1	800	c.73G>T	c.(73-75)Gaa>Taa	p.E25*	KSR2_ENST00000425217.1_5'UTR			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	25					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGACCAGTTCGCACTGCTGT	0.507																																						ENST00000339824.5																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(73-75)Gaa>Taa		kinase suppressor of ras 2							192.0	170.0	177.0					12																	118405988		1568	3582	5150	SO:0001587	stop_gained	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118405988C>A	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.73G>T	12.37:g.118405988C>A	ENSP00000339952:p.Glu25*					KSR2_ENST00000425217.1_5'UTR	p.E25*			Q6VAB6	KSR2_HUMAN			1	800	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		25					A0PJT2|Q3B828|Q8N775	Nonsense_Mutation	SNP	ENST00000339824.5	37	c.73G>T		.	.	.	.	.	.	.	.	.	.	C	46	12.515743	0.99674	.	.	ENSG00000171435	ENST00000339824	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	15.2228	0.73327	0.0:1.0:0.0:0.0	.	.	.	.	X	25	.	ENSP00000339952:E25X	E	-	1	0	KSR2	116890371	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.802000	0.75175	2.158000	0.67659	0.491000	0.48974	GAA		0.507	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		10	633	1	0	2.17888e-05	0.000442599	9.97001e-05	10	633				
RAB3GAP2	25782	broad.mit.edu	37	1	220364491	220364491	+	Missense_Mutation	SNP	G	G	A	rs151225064	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:220364491G>A	ENST00000358951.2	-	14	1522	c.1406C>T	c.(1405-1407)gCg>gTg	p.A469V		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	469					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)	p.A469V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CCTTCTTGGCGCATAGATCAC	0.493																																						ENST00000358951.2																			1	Substitution - Missense(1)	p.A469V(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(1405-1407)gCg>gTg		RAB3 GTPase activating protein subunit 2 (non-catalytic)		G	VAL/ALA	0,4406		0,0,2203	137.0	134.0	135.0		1406	5.7	0.9	1	dbSNP_134	135	2,8598	2.2+/-6.3	0,2,4298	no	missense	RAB3GAP2	NM_012414.3	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	469/1394	220364491	2,13004	2203	4300	6503	SO:0001583	missense	25782				intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	g.chr1:220364491G>A	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.1406C>T	1.37:g.220364491G>A	ENSP00000351832:p.Ala469Val						p.A469V	NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)	14	1522	-			469					A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	ENST00000358951.2	37	c.1406C>T	CCDS31028.1	.	.	.	.	.	.	.	.	.	.	G	35	5.508939	0.96386	0.0	2.33E-4	ENSG00000118873	ENST00000358951	D	0.90444	-2.67	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.94925	0.8359	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.94568	0.7768	10	0.56958	D	0.05	.	19.7176	0.96129	0.0:0.0:1.0:0.0	.	469	Q9H2M9	RBGPR_HUMAN	V	469	ENSP00000351832:A469V	ENSP00000351832:A469V	A	-	2	0	RAB3GAP2	218431114	1.000000	0.71417	0.907000	0.35723	0.936000	0.57629	9.090000	0.94144	2.670000	0.90874	0.563000	0.77884	GCG		0.493	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414		6	611	0	0	0	0.00198382	0	6	611				
OR1F2P	26184	broad.mit.edu	37	16	3265988	3265988	+	RNA	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr16:3265988C>T	ENST00000576468.1	+	0	418																											TCGCCGTGTGCCGCCCCTTAC	0.532																																						ENST00000576468.1																			0																																																			0							g.chr16:3265988C>T																													16.37:g.3265988C>T														0	418	+									RNA	SNP	ENST00000576468.1	37																																																																																						0.532	AJ003147.9-001	KNOWN	basic	antisense	antisense	OTTHUMT00000437543.1			5	281	0	0	0	0.00198382	0	5	281				
NIPA1	123606	broad.mit.edu	37	15	23049053	23049053	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr15:23049053C>T	ENST00000337435.4	-	5	790	c.766G>A	c.(766-768)Gac>Aac	p.D256N	NIPA1_ENST00000437912.2_Missense_Mutation_p.D181N|NIPA1_ENST00000561183.1_Missense_Mutation_p.D181N|NIPA1_ENST00000538684.1_Missense_Mutation_p.D86N	NM_001142275.1|NM_144599.4	NP_001135747.1|NP_653200.2	Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	256					cell death (GO:0008219)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		ACCGAGGAGTCGAAGCACTCC	0.612																																						ENST00000437912.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15						c.(541-543)Gac>Aac		non imprinted in Prader-Willi/Angelman syndrome 1							124.0	89.0	101.0					15																	23049053		2203	4300	6503	SO:0001583	missense	123606				cell death	early endosome|integral to membrane|plasma membrane		g.chr15:23049053C>T	BK001020	CCDS73691.1, CCDS73692.1	15q11.2	2006-10-06			ENSG00000170113	ENSG00000170113			17043	protein-coding gene	gene with protein product		608145	"""spastic paraplegia 6 (autosomal dominant)"""	SPG6		14508710	Standard	NM_144599		Approved	MGC35570	uc001yvc.3	Q7RTP0	OTTHUMG00000129099	ENST00000337435.4:c.766G>A	15.37:g.23049053C>T	ENSP00000337452:p.Asp256Asn					NIPA1_ENST00000561183.1_Missense_Mutation_p.D181N|NIPA1_ENST00000337435.4_Missense_Mutation_p.D256N|NIPA1_ENST00000538684.1_Missense_Mutation_p.D86N	p.D181N			Q7RTP0	NIPA1_HUMAN		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)	5	1838	-		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	256					B2RA76|Q5HYA9|Q7KZB0|Q86XW4	Missense_Mutation	SNP	ENST00000337435.4	37	c.541G>A	CCDS10011.1	.	.	.	.	.	.	.	.	.	.	C	8.788	0.929927	0.18131	.	.	ENSG00000170113	ENST00000337435;ENST00000437912;ENST00000538684	D;D;D	0.87887	-2.31;-2.31;-2.31	5.46	5.46	0.80206	.	0.090329	0.85682	D	0.000000	T	0.78394	0.4276	N	0.04880	-0.145	0.47737	D	0.999502	D	0.67145	0.996	P	0.49561	0.615	T	0.76677	-0.2871	10	0.02654	T	1	-31.8615	19.2935	0.94112	0.0:1.0:0.0:0.0	.	256	Q7RTP0	NIPA1_HUMAN	N	256;181;86	ENSP00000337452:D256N;ENSP00000393962:D181N;ENSP00000440957:D86N	ENSP00000337452:D256N	D	-	1	0	NIPA1	20600494	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.979000	0.56888	2.572000	0.86782	0.591000	0.81541	GAC		0.612	NIPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251135.2	NM_144599		8	164	0	0	0	0.000157383	0	8	164				
GRIK2	2898	broad.mit.edu	37	6	102266347	102266347	+	Missense_Mutation	SNP	A	A	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr6:102266347A>T	ENST00000421544.1	+	9	1796	c.1306A>T	c.(1306-1308)Acc>Tcc	p.T436S	GRIK2_ENST00000413795.1_Missense_Mutation_p.T436S|GRIK2_ENST00000318991.6_Missense_Mutation_p.T436S|GRIK2_ENST00000369138.1_Missense_Mutation_p.T436S|GRIK2_ENST00000369134.4_Missense_Mutation_p.T387S|GRIK2_ENST00000369137.3_Missense_Mutation_p.T436S	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	436					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TTTGATTGTTACCACCATTTT	0.383																																						ENST00000369138.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(1306-1308)Acc>Tcc		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						192.0	172.0	179.0					6																	102266347		2203	4300	6503	SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102266347A>T		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.1306A>T	6.37:g.102266347A>T	ENSP00000397026:p.Thr436Ser					GRIK2_ENST00000318991.6_Missense_Mutation_p.T436S|GRIK2_ENST00000369134.4_Missense_Mutation_p.T387S|GRIK2_ENST00000369137.3_Missense_Mutation_p.T436S|GRIK2_ENST00000421544.1_Missense_Mutation_p.T436S|GRIK2_ENST00000413795.1_Missense_Mutation_p.T436S	p.T436S	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	9	1796	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	436					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.1306A>T	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.541984	0.45280	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076;ENST00000455610;ENST00000436862	T;T;T;T;T;T;T;T	0.35973	2.79;2.79;2.79;2.79;2.79;2.79;1.28;2.79	5.81	5.81	0.92471	Ionotropic glutamate receptor (1);	0.053012	0.85682	D	0.000000	T	0.28830	0.0715	L	0.61218	1.895	0.43226	D	0.995116	B;B;B	0.18863	0.031;0.002;0.007	B;B;B	0.27380	0.079;0.022;0.049	T	0.15723	-1.0427	10	0.72032	D	0.01	.	16.151	0.81622	1.0:0.0:0.0:0.0	.	436;436;436	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	S	436;436;436;436;436;436;387;398;149;35	ENSP00000397026:T436S;ENSP00000405596:T436S;ENSP00000358134:T436S;ENSP00000358133:T436S;ENSP00000313276:T436S;ENSP00000358130:T387S;ENSP00000391988:T149S;ENSP00000407140:T35S	ENSP00000313276:T436S	T	+	1	0	GRIK2	102373040	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.412000	0.66392	2.221000	0.72209	0.523000	0.50628	ACC		0.383	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			6	114	0	0	0	0.000442599	0	6	114				
LPA	4018	broad.mit.edu	37	6	161020546	161020546	+	Missense_Mutation	SNP	T	T	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr6:161020546T>G	ENST00000316300.5	-	20	3317	c.3273A>C	c.(3271-3273)gaA>gaC	p.E1091D	LPA_ENST00000447678.1_Missense_Mutation_p.E1091D			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3599	Kringle 10. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TTGGGTAGTTTTCTGGGGTCC	0.483																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(3271-3273)gaA>gaC		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						307.0	333.0	324.0					6																	161020546		2201	4300	6501	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161020546T>G	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3273A>C	6.37:g.161020546T>G	ENSP00000321334:p.Glu1091Asp					LPA_ENST00000316300.5_Missense_Mutation_p.E1091D	p.E1091D	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	21	3393	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3599			Kringle 10.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.3273A>C	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	t	8.354	0.831520	0.16820	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.68025	-0.3;-0.3	2.48	-2.05	0.07321	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.31009	0.0783	L	0.41824	1.3	0.09310	N	1	B	0.15141	0.012	B	0.31751	0.135	T	0.39683	-0.9602	9	0.30078	T	0.28	.	2.9399	0.05826	0.0:0.3134:0.2443:0.4423	.	3599	P08519	APOA_HUMAN	D	1091	ENSP00000321334:E1091D;ENSP00000395608:E1091D	ENSP00000321334:E1091D	E	-	3	2	LPA	160940536	0.000000	0.05858	0.013000	0.15412	0.003000	0.03518	-0.976000	0.03786	-0.618000	0.05656	-0.782000	0.03352	GAA		0.483	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		8	1203	0	0	0	0.000157383	0	8	1203				
DIDO1	11083	broad.mit.edu	37	20	61538515	61538515	+	Missense_Mutation	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr20:61538515G>T	ENST00000266070.4	-	5	1683	c.1358C>A	c.(1357-1359)cCg>cAg	p.P453Q	DIDO1_ENST00000395340.1_Missense_Mutation_p.P453Q|DIDO1_ENST00000395343.1_Missense_Mutation_p.P453Q|DIDO1_ENST00000370368.1_Missense_Mutation_p.P453Q|DIDO1_ENST00000395335.2_Missense_Mutation_p.P453Q|DIDO1_ENST00000370371.4_Missense_Mutation_p.P453Q|DIDO1_ENST00000266071.5_Missense_Mutation_p.P453Q|DIDO1_ENST00000370366.1_Missense_Mutation_p.P453Q|DIDO1_ENST00000354665.4_Missense_Mutation_p.P453Q	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	453					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.P453L(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ACCGCATTTCGGAAGACTGGG	0.527																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			1	Substitution - Missense(1)	p.P453L(1)	ovary(1)	NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(1357-1359)cCg>cAg		death inducer-obliterator 1							219.0	190.0	200.0					20																	61538515		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61538515G>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.1358C>A	20.37:g.61538515G>T	ENSP00000266070:p.Pro453Gln					DIDO1_ENST00000395335.2_Missense_Mutation_p.P453Q|DIDO1_ENST00000266071.5_Missense_Mutation_p.P453Q|DIDO1_ENST00000370371.4_Missense_Mutation_p.P453Q|DIDO1_ENST00000395340.1_Missense_Mutation_p.P453Q|DIDO1_ENST00000370368.1_Missense_Mutation_p.P453Q|DIDO1_ENST00000395343.1_Missense_Mutation_p.P453Q|DIDO1_ENST00000370366.1_Missense_Mutation_p.P453Q|DIDO1_ENST00000354665.4_Missense_Mutation_p.P453Q	p.P453Q	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			5	1683	-	Breast(26;5.68e-08)		453					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.1358C>A	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	1.689	-0.504488	0.04261	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	T;T;T;T;T;T;T;T;T	0.18338	3.06;3.06;2.72;2.72;2.22;2.22;2.22;2.23;2.23	4.91	1.78	0.24846	.	0.173706	0.27622	N	0.018547	T	0.11793	0.0287	L	0.41236	1.265	0.09310	N	1	B;B;B;B	0.33494	0.239;0.414;0.203;0.128	B;B;B;B	0.28991	0.097;0.097;0.034;0.026	T	0.17258	-1.0375	10	0.36615	T	0.2	-8.571	8.456	0.32899	0.0737:0.0:0.6357:0.2906	.	453;453;453;453	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	Q	453	ENSP00000266070:P453Q;ENSP00000378752:P453Q;ENSP00000378749:P453Q;ENSP00000378744:P453Q;ENSP00000359397:P453Q;ENSP00000359394:P453Q;ENSP00000346692:P453Q;ENSP00000359391:P453Q;ENSP00000266071:P453Q	ENSP00000266070:P453Q	P	-	2	0	DIDO1	61008960	0.105000	0.21958	0.097000	0.21041	0.010000	0.07245	0.494000	0.22467	0.557000	0.29117	0.561000	0.74099	CCG		0.527	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		9	844	1	0	0.000442599	0.000442599	0.00190174	9	844				
FNDC3A	22862	broad.mit.edu	37	13	49775956	49775956	+	Missense_Mutation	SNP	G	G	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr13:49775956G>C	ENST00000492622.2	+	24	3313	c.3008G>C	c.(3007-3009)gGa>gCa	p.G1003A	FNDC3A_ENST00000541916.1_Missense_Mutation_p.G1003A|FNDC3A_ENST00000398316.3_Missense_Mutation_p.G947A	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	1003	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CTATACAGAGGACCATGTCAT	0.328																																						ENST00000492622.2																			0				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41						c.(3007-3009)gGa>gCa		fibronectin type III domain containing 3A							81.0	81.0	81.0					13																	49775956		2202	4300	6502	SO:0001583	missense	22862					Golgi membrane|integral to membrane		g.chr13:49775956G>C	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.3008G>C	13.37:g.49775956G>C	ENSP00000417257:p.Gly1003Ala					FNDC3A_ENST00000541916.1_Missense_Mutation_p.G1003A|FNDC3A_ENST00000398316.3_Missense_Mutation_p.G947A	p.G1003A	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	24	3313	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	1003			Fibronectin type-III 8.		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	c.3008G>C	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833531	0.91036	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.56611	0.45;0.45;0.45	6.16	6.16	0.99307	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	T	0.78723	0.4328	M	0.90082	3.085	0.80722	D	1	D;P	0.89917	1.0;0.936	D;P	0.91635	0.999;0.908	T	0.76822	-0.2817	10	0.33141	T	0.24	-24.3933	19.848	0.96722	0.0:0.0:1.0:0.0	.	947;1003	Q9Y2H6-2;Q9Y2H6	.;FND3A_HUMAN	A	1003;939;1003;947	ENSP00000417257:G1003A;ENSP00000441831:G1003A;ENSP00000381362:G947A	ENSP00000338579:G939A	G	+	2	0	FNDC3A	48673957	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.414000	0.97362	2.937000	0.99478	0.650000	0.86243	GGA		0.328	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		6	442	0	0	0	0.00116845	0	6	442				
ANLN	54443	broad.mit.edu	37	7	36489379	36489379	+	Silent	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:36489379C>A	ENST00000265748.2	+	23	3405	c.3184C>A	c.(3184-3186)Cga>Aga	p.R1062R	ANLN_ENST00000396068.2_Silent_p.R1025R	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	1062	Localization to the cleavage furrow.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AATTACTGTCCGACCACAAAG	0.408																																						ENST00000265748.2																			0				breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						c.(3184-3186)Cga>Aga		anillin, actin binding protein							96.0	92.0	93.0					7																	36489379		2203	4300	6503	SO:0001819	synonymous_variant	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36489379C>A	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.3184C>A	7.37:g.36489379C>A						ANLN_ENST00000396068.2_Silent_p.R1025R	p.R1062R	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN			23	3405	+			1062			Localization to the cleavage furrow.|PH.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Silent	SNP	ENST00000265748.2	37	c.3184C>A	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.348424	0.24426	.	.	ENSG00000011426	ENST00000428612	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	T	0.74596	0.3737	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73065	-0.4100	4	.	.	.	-10.8384	18.3032	0.90171	0.0:1.0:0.0:0.0	.	.	.	.	Q	226	.	.	P	+	2	0	ANLN	36455904	0.996000	0.38824	1.000000	0.80357	0.980000	0.70556	1.405000	0.34635	2.577000	0.86979	0.655000	0.94253	CCG		0.408	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		7	565	1	0	0.00198382	0.00198382	0.00809612	7	565				
ATP7B	540	broad.mit.edu	37	13	52585461	52585461	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr13:52585461C>A	ENST00000242839.4	-	1	169	c.13G>T	c.(13-15)Gag>Tag	p.E5*	ATP7B_ENST00000418097.2_Nonsense_Mutation_p.E5*|ATP7B_ENST00000400366.3_Nonsense_Mutation_p.E5*|ALG11_ENST00000523764.1_5'Flank|ATP7B_ENST00000448424.2_Nonsense_Mutation_p.E5*|ALG11_ENST00000521508.1_5'Flank|ATP7B_ENST00000400370.3_Nonsense_Mutation_p.E5*|ATP7B_ENST00000344297.5_Nonsense_Mutation_p.E5*	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	5					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	ATCTGTCTCTCCTGCTCAGGC	0.592									Wilson disease																													ENST00000242839.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55						c.(13-15)Gag>Tag		ATPase, Cu++ transporting, beta polypeptide							70.0	84.0	79.0					13																	52585461		2054	4209	6263	SO:0001587	stop_gained	540	Wilson disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52585461C>A	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.13G>T	13.37:g.52585461C>A	ENSP00000242839:p.Glu5*					ATP7B_ENST00000448424.2_Nonsense_Mutation_p.E5*|ATP7B_ENST00000344297.5_Nonsense_Mutation_p.E5*|ATP7B_ENST00000418097.2_Nonsense_Mutation_p.E5*|ATP7B_ENST00000400366.3_Nonsense_Mutation_p.E5*|ATP7B_ENST00000400370.3_Nonsense_Mutation_p.E5*	p.E5*	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	1	169	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	5					Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Nonsense_Mutation	SNP	ENST00000242839.4	37	c.13G>T	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225575	0.79576	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000448424;ENST00000400370;ENST00000418097	.	.	.	3.89	1.0	0.19881	.	0.976046	0.08296	U	0.967727	.	.	.	.	.	.	0.19945	N	0.999943	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-0.074	2.4796	0.04584	0.1932:0.5103:0.1876:0.1088	.	.	.	.	X	5	.	ENSP00000242839:E5X	E	-	1	0	ATP7B	51483462	0.002000	0.14202	0.001000	0.08648	0.037000	0.13140	0.524000	0.22940	0.051000	0.15978	-0.378000	0.06908	GAG		0.592	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		63	235	1	0	3.30712e-30	0.000781405	1.71354e-29	63	235				
FAM193A	8603	broad.mit.edu	37	4	2691390	2691390	+	Missense_Mutation	SNP	A	A	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr4:2691390A>T	ENST00000324666.5	+	12	1967	c.1616A>T	c.(1615-1617)aAg>aTg	p.K539M	FAM193A_ENST00000505311.1_Missense_Mutation_p.K539M|FAM193A_ENST00000545951.1_Missense_Mutation_p.K539M|FAM193A_ENST00000382839.3_Missense_Mutation_p.K539M|FAM193A_ENST00000502458.1_Missense_Mutation_p.K561M	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	539										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						ATGAATGATAAGAACTGGAAT	0.353																																						ENST00000324666.5																			0				NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						c.(1615-1617)aAg>aTg		family with sequence similarity 193, member A							68.0	73.0	72.0					4																	2691390		2203	4300	6503	SO:0001583	missense	8603							g.chr4:2691390A>T	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.1616A>T	4.37:g.2691390A>T	ENSP00000324587:p.Lys539Met					FAM193A_ENST00000382839.3_Missense_Mutation_p.K539M|FAM193A_ENST00000502458.1_Missense_Mutation_p.K561M|FAM193A_ENST00000505311.1_Missense_Mutation_p.K539M|FAM193A_ENST00000545951.1_Missense_Mutation_p.K539M	p.K539M	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN			12	1967	+			539					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	ENST00000324666.5	37	c.1616A>T	CCDS58875.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.973078	0.74246	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.47728	0.1461	L	0.59436	1.845	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.997;0.998;0.997;0.998	T	0.47724	-0.9095	10	0.72032	D	0.01	-39.2116	14.6205	0.68582	1.0:0.0:0.0:0.0	.	539;561;539;561;539	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	M	539;539;539;561;393	ENSP00000372290:K539M;ENSP00000324587:K539M;ENSP00000443617:K539M;ENSP00000427505:K561M;ENSP00000427260:K393M	ENSP00000324587:K539M	K	+	2	0	FAM193A	2661188	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.217000	0.72218	2.048000	0.60808	0.456000	0.33151	AAG		0.353	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		8	373	0	0	0	0.000157383	0	8	373				
MECP2	4204	broad.mit.edu	37	X	153296299	153296299	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:153296299G>A	ENST00000303391.6	-	4	1229	c.980C>T	c.(979-981)aCc>aTc	p.T327I	MECP2_ENST00000460227.1_5'Flank|MECP2_ENST00000453960.2_Missense_Mutation_p.T339I	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	327					adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)	p.T327N(1)		breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCACCGAGGGTGGACACCAG	0.617																																						ENST00000303391.6																			1	Substitution - Missense(1)	p.T327N(1)	lung(1)	breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23						c.(979-981)aCc>aTc		methyl CpG binding protein 2 (Rett syndrome)							75.0	67.0	70.0					X																	153296299		2203	4300	6503	SO:0001583	missense	4204				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity	g.chrX:153296299G>A	AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"""mental retardation, X-linked 16"", ""mental retardation, X-linked 79"", ""Rett syndrome"", ""methyl CpG binding protein 2 (Rett syndrome)"""	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.980C>T	X.37:g.153296299G>A	ENSP00000301948:p.Thr327Ile					MECP2_ENST00000453960.2_Missense_Mutation_p.T339I	p.T327I	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN			4	1229	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		327					O15233|Q6QHH9|Q7Z384	Missense_Mutation	SNP	ENST00000303391.6	37	c.980C>T	CCDS14741.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.599919	0.46318	.	.	ENSG00000169057	ENST00000303391;ENST00000545451;ENST00000453960	D;D	0.91295	-2.82;-2.81	5.06	5.06	0.68205	.	0.554194	0.19741	N	0.107108	T	0.81531	0.4842	N	0.14661	0.345	0.80722	D	1	B;B	0.26400	0.144;0.148	B;B	0.27170	0.077;0.035	T	0.76683	-0.2869	10	0.19147	T	0.46	-5.948	11.8253	0.52263	0.0:0.0:0.8245:0.1755	.	339;327	P51608-2;P51608	.;MECP2_HUMAN	I	327;327;339	ENSP00000301948:T327I;ENSP00000395535:T339I	ENSP00000301948:T327I	T	-	2	0	MECP2	152949493	0.912000	0.30974	0.128000	0.21923	0.887000	0.51463	5.301000	0.65727	2.344000	0.79699	0.600000	0.82982	ACC		0.617	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061144.1	NM_004992		12	445	0	0	0	0.000308642	0	12	445				
TTN	7273	broad.mit.edu	37	2	179433869	179433869	+	Missense_Mutation	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:179433869G>T	ENST00000591111.1	-	276	72291	c.72067C>A	c.(72067-72069)Cag>Aag	p.Q24023K	TTN_ENST00000342992.6_Missense_Mutation_p.Q23096K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q16724K|TTN_ENST00000460472.2_Missense_Mutation_p.Q16599K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Q25664K|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q16791K|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24023	Fibronectin type-III 74. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTGGAGCTGATCGATTTTC	0.388																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(76990-76992)Cag>Aag		titin							191.0	193.0	192.0					2																	179433869		1930	4117	6047	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179433869G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.72067C>A	2.37:g.179433869G>T	ENSP00000465570:p.Gln24023Lys					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Q24023K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q16724K|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q23096K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q16599K|TTN_ENST00000342175.6_Missense_Mutation_p.Q16791K|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA	p.Q25664K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	77214	-			24023			Ig-like 125.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.76990C>A		.	.	.	.	.	.	.	.	.	.	G	2.557	-0.302746	0.05495	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.93	3.1	0.35709	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.26048	0.0635	N	0.02266	-0.62	0.33359	D	0.572126	B;B;B;B	0.14012	0.009;0.009;0.009;0.002	B;B;B;B	0.14023	0.005;0.005;0.005;0.01	T	0.16808	-1.0390	9	0.87932	D	0	.	14.5358	0.67960	0.0589:0.212:0.7291:0.0	.	16599;16724;16791;24023	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	23096;16599;16791;16724;16597	ENSP00000343764:Q23096K;ENSP00000434586:Q16599K;ENSP00000340554:Q16791K;ENSP00000352154:Q16724K	ENSP00000340554:Q16791K	Q	-	1	0	TTN	179142115	1.000000	0.71417	0.163000	0.22734	0.218000	0.24690	4.194000	0.58393	0.087000	0.17167	-0.810000	0.03169	CAG		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		12	887	1	0	6.40141e-05	0.000978159	0.000287927	12	887				
ZNF536	9745	broad.mit.edu	37	19	30936183	30936183	+	Missense_Mutation	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:30936183G>T	ENST00000355537.3	+	2	1861	c.1714G>T	c.(1714-1716)Gat>Tat	p.D572Y		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	572					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGTGGGAGCAGATGGCTCCAA	0.527																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(1714-1716)Gat>Tat		zinc finger protein 536							82.0	87.0	85.0					19																	30936183		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30936183G>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1714G>T	19.37:g.30936183G>T	ENSP00000347730:p.Asp572Tyr						p.D572Y	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	1861	+	Esophageal squamous(110;0.0834)		572					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.1714G>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.973891	0.34848	.	.	ENSG00000198597	ENST00000355537	T	0.46819	0.86	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.60894	0.2304	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.51450	-0.8704	10	0.08599	T	0.76	-22.8705	19.4573	0.94900	0.0:0.0:1.0:0.0	.	572;572	A7E228;O15090	.;ZN536_HUMAN	Y	572	ENSP00000347730:D572Y	ENSP00000347730:D572Y	D	+	1	0	ZNF536	35628023	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.435000	0.97529	2.582000	0.87167	0.655000	0.94253	GAT		0.527	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		30	326	1	0	5.60225e-13	0.00178596	2.7932e-12	30	326				
CSDE1	7812	broad.mit.edu	37	1	115276409	115276409	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:115276409C>A	ENST00000358528.4	-	9	1207	c.781G>T	c.(781-783)Gaa>Taa	p.E261*	CSDE1_ENST00000534699.1_Nonsense_Mutation_p.E261*|CSDE1_ENST00000369530.1_Nonsense_Mutation_p.E276*|CSDE1_ENST00000261443.5_Nonsense_Mutation_p.E230*|CSDE1_ENST00000530886.1_Nonsense_Mutation_p.E131*|CSDE1_ENST00000438362.2_Nonsense_Mutation_p.E307*|CSDE1_ENST00000339438.6_Nonsense_Mutation_p.E230*	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	261					male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCAAAATGTTCAATGCTGATA	0.403																																						ENST00000438362.2																			0				NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51						c.(919-921)Gaa>Taa		cold shock domain containing E1, RNA-binding							99.0	97.0	97.0					1																	115276409		2203	4300	6503	SO:0001587	stop_gained	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115276409C>A		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.781G>T	1.37:g.115276409C>A	ENSP00000351329:p.Glu261*					CSDE1_ENST00000339438.6_Nonsense_Mutation_p.E230*|CSDE1_ENST00000358528.4_Nonsense_Mutation_p.E261*|CSDE1_ENST00000261443.5_Nonsense_Mutation_p.E230*|CSDE1_ENST00000369530.1_Nonsense_Mutation_p.E276*|CSDE1_ENST00000530886.1_Nonsense_Mutation_p.E131*|CSDE1_ENST00000534699.1_Nonsense_Mutation_p.E261*	p.E307*	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	1297	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	261			CSD 4; truncated.		A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Nonsense_Mutation	SNP	ENST00000358528.4	37	c.919G>T	CCDS30812.1	.	.	.	.	.	.	.	.	.	.	C	39	7.578037	0.98368	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699;ENST00000529046	.	.	.	6.07	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-7.0899	15.2523	0.73556	0.0:0.9332:0.0:0.0668	.	.	.	.	X	230;307;261;230;131;276;261;131	.	ENSP00000261443:E230X	E	-	1	0	CSDE1	115077932	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	1.584000	0.49913	0.655000	0.94253	GAA		0.403	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158		6	230	1	0	0.00198382	0.00198382	0.00809612	6	230				
BLM	641	broad.mit.edu	37	15	91303899	91303899	+	Silent	SNP	T	T	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr15:91303899T>C	ENST00000355112.3	+	7	1414	c.1296T>C	c.(1294-1296)ccT>ccC	p.P432P	BLM_ENST00000560509.1_Silent_p.P432P	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	432	Necessary for interaction with SPIDR.				alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GATACAGGCCTGATTCACTTG	0.418			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													ENST00000355112.3			yes	Rec		Bloom Syndrome	15	15q26.1	641	"""Mis, N, F"""	Bloom Syndrome			"""L, E"""		"""leukemia, lymphoma, skin squamous cell , other cancers"""			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1294-1296)ccT>ccC	Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome, RecQ helicase-like							121.0	122.0	122.0					15																	91303899		2198	4298	6496	SO:0001819	synonymous_variant	641	Bloom syndrome	Familial Cancer Database		double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	g.chr15:91303899T>C	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.1296T>C	15.37:g.91303899T>C						BLM_ENST00000560509.1_Silent_p.P432P	p.P432P	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Lung(145;0.189)		7	1414	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		432					Q52M96	Silent	SNP	ENST00000355112.3	37	c.1296T>C	CCDS10363.1																																																																																				0.418	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			7	856	0	0	0	0.000157383	0	7	856				
KRT17	3872	broad.mit.edu	37	17	39778723	39778723	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:39778723C>A	ENST00000311208.8	-	3	623	c.556G>T	c.(556-558)Gac>Tac	p.D186Y	JUP_ENST00000540235.1_Missense_Mutation_p.D345Y	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	186	Coil 1B.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				CCATTGATGTCGGCCTCCACA	0.612																																					Pancreas(92;1242 2086 39193 50508)	ENST00000540235.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23						c.(1033-1035)Gac>Tac		junction plakoglobin							66.0	68.0	68.0					17																	39778723		2203	4300	6503	SO:0001583	missense	3728				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr17:39778723C>A	X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.556G>T	17.37:g.39778723C>A	ENSP00000308452:p.Asp186Tyr					KRT17_ENST00000311208.8_Missense_Mutation_p.D186Y	p.D345Y			P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	6	1032	-		Breast(137;0.000162)	0					A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Missense_Mutation	SNP	ENST00000311208.8	37	c.1033G>T	CCDS11402.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663356	0.88251	.	.	ENSG00000128422;ENSG00000173801	ENST00000311208;ENST00000540235	D;D	0.90197	-2.63;-2.63	4.31	4.31	0.51392	Filament (1);	0.000000	0.46758	D	0.000279	D	0.97133	0.9063	H	0.97291	3.975	0.48571	D	0.999672	D	0.89917	1.0	D	0.83275	0.996	D	0.98740	1.0716	10	0.87932	D	0	.	17.3475	0.87313	0.0:1.0:0.0:0.0	.	186	Q04695	K1C17_HUMAN	Y	186;345	ENSP00000308452:D186Y;ENSP00000441751:D345Y	ENSP00000441751:D345Y	D	-	1	0	JUP;KRT17	37032249	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.651000	0.83577	2.390000	0.81377	0.655000	0.94253	GAC		0.612	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257460.1	NM_000422		7	397	1	0	0.000274275	0.000274275	0.00119304	7	397				
ZHX3	23051	broad.mit.edu	37	20	39832133	39832133	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr20:39832133G>A	ENST00000309060.3	-	4	1839	c.1424C>T	c.(1423-1425)gCg>gTg	p.A475V	ZHX3_ENST00000559234.1_Missense_Mutation_p.A475V|ZHX3_ENST00000544979.2_Missense_Mutation_p.A475V|ZHX3_ENST00000560361.1_Missense_Mutation_p.A475V|ZHX3_ENST00000432768.2_Missense_Mutation_p.A475V|ZHX3_ENST00000540170.1_Missense_Mutation_p.A475V|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	475	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.A475V(1)		endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CGACTGGGCCGCATTGACCAC	0.537																																						ENST00000309060.3																			1	Substitution - Missense(1)	p.A475V(1)	large_intestine(1)	endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(1423-1425)gCg>gTg		zinc fingers and homeoboxes 3							72.0	58.0	62.0					20																	39832133		2203	4300	6503	SO:0001583	missense	23051				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:39832133G>A	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.1424C>T	20.37:g.39832133G>A	ENSP00000312222:p.Ala475Val					ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000432768.2_Missense_Mutation_p.A475V|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000544979.2_Missense_Mutation_p.A475V|ZHX3_ENST00000540170.1_Missense_Mutation_p.A475V|ZHX3_ENST00000559234.1_Missense_Mutation_p.A475V|ZHX3_ENST00000560361.1_Missense_Mutation_p.A475V	p.A475V			Q9H4I2	ZHX3_HUMAN			4	1839	-		Myeloproliferative disorder(115;0.00425)	475			Required for homodimerization and interaction with NFYA.|Required for repressor activity.		E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	ENST00000309060.3	37	c.1424C>T	CCDS13315.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.997092	0.35226	.	.	ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262;ENST00000432768	T;T;T;T;T	0.34859	1.34;2.8;2.8;2.59;1.34	5.93	5.93	0.95920	.	0.242897	0.40469	N	0.001094	T	0.32645	0.0836	L	0.40543	1.245	0.18873	N	0.999981	P;B;P	0.41673	0.532;0.348;0.759	B;B;B	0.37480	0.251;0.102;0.176	T	0.38394	-0.9663	10	0.72032	D	0.01	-9.9771	16.3863	0.83505	0.0:0.1314:0.8686:0.0	.	475;475;475	A8K8Q0;Q9H4I2;F5H820	.;ZHX3_HUMAN;.	V	475;475;475;475;253;475	ENSP00000312222:A475V;ENSP00000362360:A475V;ENSP00000442290:A475V;ENSP00000443783:A475V;ENSP00000415498:A475V	ENSP00000312222:A475V	A	-	2	0	ZHX3	39265547	0.534000	0.26362	0.181000	0.23098	0.707000	0.40811	2.718000	0.47236	2.815000	0.96918	0.561000	0.74099	GCG		0.537	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		5	179	0	0	0	0.00116845	0	5	179				
TCERG1	10915	broad.mit.edu	37	5	145851118	145851118	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:145851118C>A	ENST00000296702.5	+	9	1618	c.1580C>A	c.(1579-1581)gCt>gAt	p.A527D	TCERG1_ENST00000394421.2_Missense_Mutation_p.A506D	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	527					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTTGCTACTGCTCCTATTCCT	0.423																																						ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(1579-1581)gCt>gAt		transcription elongation regulator 1							124.0	124.0	124.0					5																	145851118		2203	4300	6503	SO:0001583	missense	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145851118C>A	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.1580C>A	5.37:g.145851118C>A	ENSP00000296702:p.Ala527Asp					TCERG1_ENST00000394421.2_Missense_Mutation_p.A506D	p.A527D	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	1618	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	527					Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	c.1580C>A	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.095411	0.56075	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.44482	0.92;0.92	5.63	5.63	0.86233	.	0.094736	0.64402	D	0.000001	T	0.30978	0.0782	N	0.08118	0	0.31301	N	0.688266	P;P;B	0.42649	0.786;0.762;0.041	B;B;B	0.43082	0.407;0.242;0.003	T	0.15263	-1.0443	10	0.30078	T	0.28	-8.6494	19.6756	0.95930	0.0:1.0:0.0:0.0	.	506;506;527	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	D	527;506	ENSP00000296702:A527D;ENSP00000377943:A506D	ENSP00000296702:A527D	A	+	2	0	TCERG1	145831311	1.000000	0.71417	0.998000	0.56505	0.751000	0.42716	4.739000	0.62080	2.664000	0.90586	0.313000	0.20887	GCT		0.423	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		5	525	1	0	0.000602214	0.000602214	0.0025667	5	525				
SS18L1	26039	broad.mit.edu	37	20	60734000	60734000	+	Intron	SNP	T	T	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr20:60734000T>C	ENST00000331758.3	+	2	172				SS18L1_ENST00000421564.1_Intron|SS18L1_ENST00000370848.4_Splice_Site	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1						chromatin modification (GO:0016568)|dendrite development (GO:0016358)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of dendrite development (GO:0050773)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|kinetochore (GO:0000776)|nuclear body (GO:0016604)|nucleus (GO:0005634)			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			AGCACGGAGGTCAGATATGTC	0.627			T	SSX1	synovial sarcoma																																	ENST00000370848.4				Dom	yes		20	20q13.3	26039	T	synovial sarcoma translocation gene on chromosome 18-like 1			M	SSX1		synovial sarcoma	SS18L1/SSX1(2)	0				ovary(2)|skin(1)	3						c.e1+2		synovial sarcoma translocation gene on chromosome 18-like 1							133.0	143.0	140.0					20																	60734000		876	1991	2867	SO:0001627	intron_variant	26039				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore		g.chr20:60734000T>C	AB014593	CCDS13491.1	20q13.3	2008-07-28			ENSG00000184402	ENSG00000184402			15592	protein-coding gene	gene with protein product		606472					Standard	XM_005260389		Approved	KIAA0693	uc002ycb.3	O75177	OTTHUMG00000032902	ENST00000331758.3:c.146+196T>C	20.37:g.60734000T>C						SS18L1_ENST00000331758.3_Intron|SS18L1_ENST00000421564.1_Intron				O75177	CREST_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.92e-08)		1	155	+	Breast(26;3.97e-09)							A6NNE3|A8K620|B3KWR8|E1P5H7|Q5JXJ3|Q6MZV9|Q6NTH3|Q6XYD9|Q8NE69|Q9BR55|Q9H4K6	Splice_Site	SNP	ENST00000331758.3	37		CCDS13491.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.609666	0.00842	.	.	ENSG00000184402	ENST00000450482;ENST00000370848	.	.	.	0.653	-1.31	0.09230	.	.	.	.	.	.	.	.	.	.	.	0.20403	N	0.999902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1	.	.	.	+	.	.	SS18L1	60167395	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-5.346000	0.00129	-2.838000	0.00336	-2.647000	0.00150	.		0.627	SS18L1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080004.2			6	709	0	0	0	0.000978159	0	6	709				
HSF5	124535	broad.mit.edu	37	17	56557381	56557381	+	Silent	SNP	G	G	A	rs115372024	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:56557381G>A	ENST00000323777.3	-	2	907	c.798C>T	c.(796-798)acC>acT	p.T266T		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	266					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCAGTGTATAGGTAACCTCAG	0.478													G|||	16	0.00319489	0.0113	0.0014	5008	,	,		18766	0.0		0.0	False		,,,				2504	0.0					ENST00000323777.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16						c.(796-798)acC>acT		heat shock transcription factor family member 5		G		44,4362	46.7+/-81.2	0,44,2159	277.0	240.0	253.0		798	-0.4	1.0	17	dbSNP_132	253	0,8600		0,0,4300	no	coding-synonymous	HSF5	NM_001080439.1		0,44,6459	AA,AG,GG		0.0,0.9986,0.3383		266/597	56557381	44,12962	2203	4300	6503	SO:0001819	synonymous_variant	124535					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:56557381G>A	BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.798C>T	17.37:g.56557381G>A							p.T266T	NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN			2	907	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		266					Q08EH7|Q8N7V2	Silent	SNP	ENST00000323777.3	37	c.798C>T	CCDS32690.1																																																																																				0.478	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1	XM_064190		135	276	0	0	0	0.000781405	0	135	276				
ZNF563	147837	broad.mit.edu	37	19	12429722	12429722	+	Missense_Mutation	SNP	T	T	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:12429722T>C	ENST00000293725.5	-	4	1322	c.1117A>G	c.(1117-1119)Acg>Gcg	p.T373A		NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	373					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(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TGAGATAACGTTTTCCCACAC	0.413																																					GBM(39;623 795 5132 29510 31476)	ENST00000293725.5																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1117-1119)Acg>Gcg		zinc finger protein 563							191.0	181.0	184.0					19																	12429722		2203	4300	6503	SO:0001583	missense	147837				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12429722T>C	BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.1117A>G	19.37:g.12429722T>C	ENSP00000293725:p.Thr373Ala						p.T373A	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN			4	1322	-			373					B2R9E7|Q8NAT7	Missense_Mutation	SNP	ENST00000293725.5	37	c.1117A>G	CCDS12270.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.253024	0.00268	.	.	ENSG00000188868	ENST00000293725	T	0.03745	3.82	1.0	-1.65	0.08291	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01320	0.0043	N	0.05259	-0.085	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45963	-0.9225	9	0.02654	T	1	.	2.3025	0.04165	0.3613:0.2701:0.0:0.3686	.	373	Q8TA94	ZN563_HUMAN	A	373	ENSP00000293725:T373A	ENSP00000293725:T373A	T	-	1	0	ZNF563	12290722	0.000000	0.05858	0.003000	0.11579	0.233000	0.25261	-3.012000	0.00647	-0.501000	0.06605	-0.765000	0.03448	ACG		0.413	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276		9	865	0	0	0	0.000673444	0	9	865				
CFHR1	3078	broad.mit.edu	37	1	196797211	196797211	+	Missense_Mutation	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:196797211G>T	ENST00000320493.5	+	4	530	c.442G>T	c.(442-444)Gtg>Ttg	p.V148L	CFHR1_ENST00000367424.4_Intron|CFHR2_ENST00000367421.3_Intron	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	148	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						CACTTCCTGTGTGAATCCGCC	0.383																																						ENST00000320493.5																			0				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						c.(442-444)Gtg>Ttg		complement factor H-related 1							55.0	73.0	67.0					1																	196797211		1827	4114	5941	SO:0001583	missense	3078				complement activation	extracellular space		g.chr1:196797211G>T	M65292	CCDS1386.1	1q32	2014-09-17	2004-08-09	2006-02-28	ENSG00000244414	ENSG00000244414		"""Complement system"""	4888	protein-coding gene	gene with protein product		134371	"""H factor (complement)-like 1"", ""complement factor H-related 1 pseudogene"", ""H factor (complement)-like 2"""	HFL1, CFHL1, CFHR1P, HFL2, CFHL1P		1711047, 1826708	Standard	NM_002113		Approved	H36-1, FHR1, CFHL, H36-2		Q03591	OTTHUMG00000036276	ENST00000320493.5:c.442G>T	1.37:g.196797211G>T	ENSP00000314299:p.Val148Leu					CFHR1_ENST00000498248.1_3'UTR|CFHR1_ENST00000367424.3_Intron|CFHR2_ENST00000367421.3_Intron	p.V148L	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN			4	530	+			148			Sushi 3.		A8K465|Q3B774|Q9UJ17	Missense_Mutation	SNP	ENST00000320493.5	37	c.442G>T	CCDS1386.1	.	.	.	.	.	.	.	.	.	.	.	6.008	0.369878	0.11352	.	.	ENSG00000244414	ENST00000320493	T	0.64260	-0.09	2.89	1.95	0.26073	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.55561	0.1928	L	0.37466	1.105	0.80722	D	1	B;D	0.54047	0.387;0.964	B;P	0.52554	0.326;0.702	T	0.47995	-0.9073	9	0.28530	T	0.3	.	6.0102	0.19571	0.1541:0.0:0.8459:0.0	.	148;1049	Q03591;A8K5T0	FHR1_HUMAN;.	L	148	ENSP00000314299:V148L	ENSP00000314299:V148L	V	+	1	0	CFHR1	195063834	0.321000	0.24625	0.995000	0.50966	0.022000	0.10575	0.327000	0.19663	0.520000	0.28426	0.398000	0.26397	GTG		0.383	CFHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088251.2	NM_002113		8	578	1	0	2.17888e-05	0.000442599	9.97001e-05	8	578				
RBP3	5949	broad.mit.edu	37	10	48388910	48388910	+	Silent	SNP	G	G	A	rs545131365		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:48388910G>A	ENST00000224600.4	-	1	2081	c.1968C>T	c.(1966-1968)gtC>gtT	p.V656V	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	656	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TCTGCCCCACGACCTCTGGCC	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		17624	0.001		0.0	False		,,,				2504	0.0					ENST00000224600.4																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(1966-1968)gtC>gtT		retinol binding protein 3, interstitial	Vitamin A(DB00162)						17.0	19.0	18.0					10																	48388910		2198	4286	6484	SO:0001819	synonymous_variant	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48388910G>A	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.1968C>T	10.37:g.48388910G>A							p.V656V	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			1	2081	-			656			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP	ENST00000224600.4	37	c.1968C>T	CCDS7218.1																																																																																				0.662	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		16	90	0	0	0	0.000308642	0	16	90				
ZNF208	7757	broad.mit.edu	37	19	22155896	22155896	+	Missense_Mutation	SNP	A	A	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:22155896A>C	ENST00000397126.4	-	4	2088	c.1940T>G	c.(1939-1941)aTt>aGt	p.I647S	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	647					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGAGACCTTAATAAAGGTTTT	0.398																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(1939-1941)aTt>aGt		zinc finger protein 208							108.0	112.0	110.0					19																	22155896		2126	4263	6389	SO:0001583	missense	7757							g.chr19:22155896A>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1940T>G	19.37:g.22155896A>C	ENSP00000380315:p.Ile647Ser					ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	p.I647S	NM_007153.3	NP_009084.2					4	2088	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.1940T>G	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.852850	0.00004	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.34472	1.36	2.49	-4.98	0.03019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12987	0.0315	.	.	.	0.09310	N	1	B	0.25441	0.126	B	0.28385	0.089	T	0.08932	-1.0698	8	0.02654	T	1	.	3.9444	0.09343	0.0966:0.28:0.437:0.1864	.	547	O43345	ZN208_HUMAN	S	647;547	ENSP00000380315:I647S	ENSP00000380315:I647S	I	-	2	0	ZNF208	21947736	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-9.082000	0.00014	-4.116000	0.00072	-4.061000	0.00012	ATT		0.398	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		6	468	0	0	0	0.00198382	0	6	468				
MAP10	54627	broad.mit.edu	37	1	232941470	232941470	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:232941470G>A	ENST00000418460.1	+	1	828	c.701G>A	c.(700-702)gGc>gAc	p.G234D		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	92					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)										TTCGGTCGCGGCAAGTCCTGC	0.716																																						ENST00000418460.1																			0											c.(700-702)gGc>gAc		microtubule-associated protein 10							8.0	11.0	10.0					1																	232941470		1973	4119	6092	SO:0001583	missense	54627							g.chr1:232941470G>A	AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"""microtubule regulator 120 KDa"""		"""KIAA1383"""	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.701G>A	1.37:g.232941470G>A	ENSP00000403208:p.Gly234Asp						p.G234D	NM_019090.2	NP_061963.2					1	828	+								A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	ENST00000418460.1	37	c.701G>A	CCDS44334.1	.	.	.	.	.	.	.	.	.	.	G	31	5.064286	0.93898	.	.	ENSG00000212916	ENST00000418460	.	.	.	5.25	4.34	0.51931	.	0.000000	0.64402	U	0.000015	T	0.78477	0.4289	M	0.77103	2.36	0.49051	D	0.999746	D	0.89917	1.0	D	0.76575	0.988	T	0.81747	-0.0791	9	0.87932	D	0	-13.0448	13.9888	0.64353	0.0733:0.0:0.9267:0.0	.	92	Q9P2G4	K1383_HUMAN	D	234	.	ENSP00000403208:G234D	G	+	2	0	KIAA1383	231008093	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	6.751000	0.74893	1.341000	0.45600	0.555000	0.69702	GGC		0.716	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	NM_019090		4	170	0	0	0	0.00116845	0	4	170				
MYO1D	4642	broad.mit.edu	37	17	31094737	31094737	+	Missense_Mutation	SNP	C	C	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:31094737C>G	ENST00000318217.5	-	7	1052	c.748G>C	c.(748-750)Gtt>Ctt	p.V250L	MYO1D_ENST00000579584.1_Missense_Mutation_p.V250L|MYO1D_ENST00000583621.1_Missense_Mutation_p.V250L|MYO1D_ENST00000394649.4_Missense_Mutation_p.V162L	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	250	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			GCATCAGCAACAACTCTGAAT	0.388																																						ENST00000318217.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(748-750)Gtt>Ctt		myosin ID							100.0	84.0	90.0					17																	31094737		2203	4300	6503	SO:0001583	missense	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:31094737C>G	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.748G>C	17.37:g.31094737C>G	ENSP00000324527:p.Val250Leu					MYO1D_ENST00000579584.1_Missense_Mutation_p.V250L|MYO1D_ENST00000394649.4_Missense_Mutation_p.V162L|MYO1D_ENST00000583621.1_Missense_Mutation_p.V250L	p.V250L	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		7	1052	-			250			Myosin head-like.		A6H8V3|Q8NHP9	Missense_Mutation	SNP	ENST00000318217.5	37	c.748G>C	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	C	33	5.288156	0.95517	.	.	ENSG00000176658	ENST00000318217	D	0.86627	-2.15	6.0	6.0	0.97389	Myosin head, motor domain (2);	0.000000	0.35646	U	0.003065	D	0.89329	0.6684	L	0.45698	1.435	0.58432	D	0.999999	P;P	0.51933	0.949;0.913	P;P	0.53760	0.734;0.649	D	0.89435	0.3719	10	0.62326	D	0.03	.	17.9887	0.89162	0.0:1.0:0.0:0.0	.	161;250	Q7Z3N6;O94832	.;MYO1D_HUMAN	L	250	ENSP00000324527:V250L	ENSP00000324527:V250L	V	-	1	0	MYO1D	28118850	1.000000	0.71417	0.994000	0.49952	0.984000	0.73092	7.487000	0.81328	2.848000	0.98002	0.655000	0.94253	GTT		0.388	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			5	327	0	0	0	0.00116845	0	5	327				
APRT	353	broad.mit.edu	37	16	88877975	88877975	+	Missense_Mutation	SNP	C	C	T	rs370646722		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr16:88877975C>T	ENST00000378364.3	-	2	214	c.170G>A	c.(169-171)cGc>cAc	p.R57H	APRT_ENST00000563655.1_Missense_Mutation_p.R57H|APRT_ENST00000426324.2_Missense_Mutation_p.R57H	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase	57					adenine salvage (GO:0006168)|AMP salvage (GO:0044209)|cellular response to insulin stimulus (GO:0032869)|grooming behavior (GO:0007625)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	adenine binding (GO:0002055)|adenine phosphoribosyltransferase activity (GO:0003999)|AMP binding (GO:0016208)			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	GTAGTCGATGCGGCCCCCGTG	0.716																																						ENST00000378364.3																			0				cervix(1)|endometrium(1)|liver(1)	3						c.(169-171)cGc>cAc		adenine phosphoribosyltransferase	Adenine(DB00173)|Adenosine monophosphate(DB00131)						8.0	8.0	8.0					16																	88877975		2116	4182	6298	SO:0001583	missense	353				purine ribonucleoside salvage	cytosol|nucleus	adenine phosphoribosyltransferase activity|AMP binding|protein binding	g.chr16:88877975C>T		CCDS32511.1, CCDS45546.1	16q24	2012-10-02				ENSG00000198931	2.4.2.7		626	protein-coding gene	gene with protein product		102600					Standard	NM_000485		Approved		uc002flv.3	P07741		ENST00000378364.3:c.170G>A	16.37:g.88877975C>T	ENSP00000367615:p.Arg57His					APRT_ENST00000563655.1_Missense_Mutation_p.R57H|APRT_ENST00000426324.2_Missense_Mutation_p.R57H	p.R57H	NM_000485.2	NP_000476.1	P07741	APT_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0477)	2	214	-			57					G5E9J2|Q3KP55|Q68DF9	Missense_Mutation	SNP	ENST00000378364.3	37	c.170G>A	CCDS32511.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610499	0.46527	.	.	ENSG00000198931	ENST00000378364;ENST00000426324	D;D	0.99369	-3.3;-5.78	4.63	-0.359	0.12571	Phosphoribosyltransferase (1);	0.950123	0.08812	N	0.890115	D	0.95510	0.8541	N	0.03891	-0.335	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	D	0.90882	0.4754	10	0.72032	D	0.01	-3.3317	9.307	0.37881	0.0:0.5341:0.0:0.4659	.	57;57	G5E9J2;P07741	.;APT_HUMAN	H	57	ENSP00000367615:R57H;ENSP00000397007:R57H	ENSP00000367615:R57H	R	-	2	0	APRT	87405476	0.001000	0.12720	0.026000	0.17262	0.926000	0.56050	0.200000	0.17257	-0.387000	0.07809	0.313000	0.20887	CGC		0.716	APRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430000.2	NM_000485		4	50	0	0	0	0.000602214	0	4	50				
ZXDB	158586	broad.mit.edu	37	X	57620752	57620752	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:57620752G>A	ENST00000374888.1	+	1	2484	c.2271G>A	c.(2269-2271)gcG>gcA	p.A757A		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	757					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.A757A(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CAACCAAAGCGGAGTGGAACG	0.488																																						ENST00000374888.1																			1	Substitution - coding silent(1)	p.A757A(1)	lung(1)	NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						c.(2269-2271)gcG>gcA		zinc finger, X-linked, duplicated B							163.0	124.0	138.0					X																	57620752		2203	4300	6503	SO:0001819	synonymous_variant	158586				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chrX:57620752G>A	L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"""Zinc fingers, C2H2-type"""	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.2271G>A	X.37:g.57620752G>A							p.A757A	NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN			1	2484	+			757					A8K151|Q9UBB3	Silent	SNP	ENST00000374888.1	37	c.2271G>A	CCDS35313.1																																																																																				0.488	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1	NM_007157		87	281	0	0	0	0.000781405	0	87	281				
POTEM	641455	broad.mit.edu	37	14	20010235	20010235	+	Missense_Mutation	SNP	A	A	G	rs113380635		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr14:20010235A>G	ENST00000551509.1	-	5	974	c.923T>C	c.(922-924)gTt>gCt	p.V308A	RP11-244H18.1_ENST00000547584.1_lincRNA|RNU6-1268P_ENST00000391214.1_RNA	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	308										endometrium(4)|kidney(1)|lung(4)	9						AAGTATGAGAACAGTTCTAAA	0.368																																						ENST00000551509.1																			0				endometrium(4)|kidney(1)|lung(4)	9						c.(922-924)gTt>gCt		POTE ankyrin domain family, member M							42.0	37.0	39.0					14																	20010235		365	763	1128	SO:0001583	missense	641455							g.chr14:20010235A>G		CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37096	protein-coding gene	gene with protein product	"""prostate-specific P704P"""					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.923T>C	14.37:g.20010235A>G	ENSP00000452296:p.Val308Ala					RP11-244H18.1_ENST00000547584.1_lincRNA	p.V308A	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN			5	974	-			308						Missense_Mutation	SNP	ENST00000551509.1	37	c.923T>C	CCDS45076.1	.	.	.	.	.	.	.	.	.	.	g	5.617	0.298596	0.10622	.	.	ENSG00000187537	ENST00000551509;ENST00000439503;ENST00000344684	T	0.60040	0.22	0.906	0.906	0.19314	Ankyrin repeat-containing domain (4);	0.000000	0.32655	N	0.005811	T	0.10723	0.0262	N	0.00039	-2.51	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.25187	-1.0139	8	.	.	.	.	3.4158	0.07375	0.2955:0.0:0.7045:0.0	.	308	A6NI47	POTEM_HUMAN	A	308;393;308	ENSP00000452296:V308A	.	V	-	2	0	POTEM	19080235	0.621000	0.27077	0.813000	0.32504	0.042000	0.13812	0.922000	0.28734	-0.020000	0.14032	-1.160000	0.01791	GTT		0.368	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409490.3	NM_001145442		5	626	0	0	0	0.00116845	0	5	626				
CLCNKA	1187	broad.mit.edu	37	1	16353850	16353850	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:16353850G>A	ENST00000331433.4	+	8	720	c.701G>A	c.(700-702)cGg>cAg	p.R234Q	CLCNKA_ENST00000375692.1_Missense_Mutation_p.R234Q|CLCNKA_ENST00000439316.2_Missense_Mutation_p.R191Q|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Missense_Mutation_p.R234Q			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	234					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TTCTCTGTCCGGGATTACTGG	0.637																																						ENST00000375692.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19						c.(700-702)cGg>cAg		chloride channel, voltage-sensitive Ka	Niflumic Acid(DB04552)						95.0	99.0	98.0					1																	16353850		2203	4300	6503	SO:0001583	missense	0				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16353850G>A		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.701G>A	1.37:g.16353850G>A	ENSP00000332771:p.Arg234Gln					CLCNKA_ENST00000420078.1_Missense_Mutation_p.R234Q|CLCNKA_ENST00000331433.4_Missense_Mutation_p.R234Q|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.R191Q	p.R234Q			P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	9	829	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	234					B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	ENST00000331433.4	37	c.701G>A	CCDS167.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.397759	0.62177	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.94758	-3.51;-3.51;-3.51;-3.51	3.02	3.02	0.34903	Chloride channel, core (2);	0.189554	0.45606	D	0.000349	D	0.94212	0.8142	M	0.68728	2.09	0.28863	N	0.895394	B;P;B	0.39480	0.364;0.675;0.364	B;P;B	0.46026	0.342;0.501;0.342	D	0.90856	0.4735	10	0.51188	T	0.08	.	13.4842	0.61355	0.0:0.0:1.0:0.0	.	191;234;234	E7EPH6;Q5T5Q4;P51800	.;.;CLCKA_HUMAN	Q	234;234;191;234	ENSP00000364844:R234Q;ENSP00000410353:R234Q;ENSP00000414445:R191Q;ENSP00000332771:R234Q	ENSP00000332771:R234Q	R	+	2	0	CLCNKA	16226437	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.291000	0.65667	1.674000	0.50907	0.313000	0.20887	CGG		0.637	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			12	590	0	0	0	0.00185496	0	12	590				
GATAD2B	57459	broad.mit.edu	37	1	153789912	153789912	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:153789912G>A	ENST00000368655.4	-	6	1079	c.836C>T	c.(835-837)cCg>cTg	p.P279L		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	279					ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGGCTTAGGCGGGCCCCGCTG	0.527																																						ENST00000368655.4																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38						c.(835-837)cCg>cTg		GATA zinc finger domain containing 2B							115.0	101.0	106.0					1																	153789912		2203	4300	6503	SO:0001583	missense	57459					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:153789912G>A	AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"""GATA zinc finger domain containing"""	30778	protein-coding gene	gene with protein product	"""transcription repressor p66 beta component of the MeCP1 complex"""	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.836C>T	1.37:g.153789912G>A	ENSP00000357644:p.Pro279Leu						p.P279L	NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		6	1079	-	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		279					D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Missense_Mutation	SNP	ENST00000368655.4	37	c.836C>T	CCDS1054.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.284508	0.40394	.	.	ENSG00000143614	ENST00000368655	T	0.35605	1.3	5.87	5.87	0.94306	.	0.054498	0.85682	D	0.000000	T	0.19248	0.0462	L	0.38175	1.15	0.80722	D	1	D	0.53619	0.961	B	0.36989	0.238	T	0.02126	-1.1209	10	0.40728	T	0.16	-4.5218	19.3531	0.94398	0.0:0.0:1.0:0.0	.	279	Q8WXI9	P66B_HUMAN	L	279	ENSP00000357644:P279L	ENSP00000357644:P279L	P	-	2	0	GATAD2B	152056536	1.000000	0.71417	0.931000	0.37212	0.149000	0.21700	6.016000	0.70798	2.941000	0.99782	0.655000	0.94253	CCG		0.527	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090305.1	NM_020699		102	282	0	0	0	0.000781405	0	102	282				
ACRBP	84519	broad.mit.edu	37	12	6753307	6753307	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:6753307C>T	ENST00000229243.2	-	5	1033	c.940G>A	c.(940-942)Ggc>Agc	p.G314S	ACRBP_ENST00000542357.1_5'Flank|ACRBP_ENST00000414226.2_Missense_Mutation_p.G281S|ACRBP_ENST00000536350.1_Missense_Mutation_p.G314S	NM_032489.2	NP_115878.2			acrosin binding protein											NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						CTATACCTGCCAGGGTTTTGG	0.463																																						ENST00000229243.2																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						c.(940-942)Ggc>Agc		acrosin binding protein							69.0	70.0	70.0					12																	6753307		2203	4299	6502	SO:0001583	missense	84519					acrosomal vesicle|extracellular region		g.chr12:6753307C>T	AB051833	CCDS8554.1	12p13.31	2009-03-12			ENSG00000111644	ENSG00000111644			17195	protein-coding gene	gene with protein product	"""proacrosin binding protein sp32"", ""cancer/testis antigen 23"""	608352				11248070	Standard	NM_032489		Approved	SP32, OY-TES-1, CT23	uc001qpu.1	Q8NEB7	OTTHUMG00000168715	ENST00000229243.2:c.940G>A	12.37:g.6753307C>T	ENSP00000229243:p.Gly314Ser					ACRBP_ENST00000536350.1_Missense_Mutation_p.G314S|ACRBP_ENST00000414226.2_Missense_Mutation_p.G281S	p.G314S	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN			5	1033	-			314						Missense_Mutation	SNP	ENST00000229243.2	37	c.940G>A	CCDS8554.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612970	0.46631	.	.	ENSG00000111644	ENST00000229243;ENST00000414226;ENST00000536350	T;T	0.44881	0.92;0.91	4.25	2.41	0.29592	.	0.596770	0.15767	N	0.245645	T	0.29914	0.0748	L	0.50919	1.6	0.21325	N	0.999725	P;P	0.37525	0.598;0.598	B;B	0.31614	0.133;0.133	T	0.14504	-1.0470	10	0.41790	T	0.15	.	5.855	0.18714	0.0:0.767:0.0:0.233	.	281;314	E7EP66;Q8NEB7	.;ACRBP_HUMAN	S	314;281;314	ENSP00000229243:G314S;ENSP00000402725:G281S	ENSP00000229243:G314S	G	-	1	0	ACRBP	6623568	0.505000	0.26131	0.620000	0.29132	0.535000	0.34838	0.691000	0.25467	1.135000	0.42183	0.561000	0.74099	GGC		0.463	ACRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400703.1	NM_032489		7	364	0	0	0	0.000157383	0	7	364				
TMEM132D	121256	broad.mit.edu	37	12	129822360	129822360	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:129822360G>A	ENST00000422113.2	-	4	1444	c.1118C>T	c.(1117-1119)gCg>gTg	p.A373V		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	373					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGCGCCATCCGCACTGGAGAG	0.592																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(1117-1119)gCg>gTg		transmembrane protein 132D							76.0	72.0	73.0					12																	129822360		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129822360G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1118C>T	12.37:g.129822360G>A	ENSP00000408581:p.Ala373Val						p.A373V	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	4	1444	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	373					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.1118C>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	7.293	0.611470	0.14066	.	.	ENSG00000151952	ENST00000422113	T	0.13657	2.57	5.15	-9.46	0.00597	.	1.098670	0.06965	N	0.817048	T	0.05547	0.0146	N	0.05230	-0.09	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44251	-0.9340	9	.	.	.	-7.6336	13.872	0.63624	0.2209:0.0943:0.6848:0.0	.	373	Q14C87	T132D_HUMAN	V	373	ENSP00000408581:A373V	.	A	-	2	0	TMEM132D	128388313	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.065000	0.11617	-2.151000	0.00795	-0.889000	0.02933	GCG		0.592	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		12	370	0	0	0	0.00244969	0	12	370				
CR1	1378	broad.mit.edu	37	1	207785308	207785308	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:207785308G>A	ENST00000367049.4	+	39	6497	c.6497G>A	c.(6496-6498)gGc>gAc	p.G2166D	CR1_ENST00000367051.1_Missense_Mutation_p.G1716D|CR1_ENST00000367052.1_Missense_Mutation_p.G1716D|CR1_ENST00000400960.2_Missense_Mutation_p.G1716D|CR1_ENST00000367053.1_Missense_Mutation_p.G1716D	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1716					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GACTTCCTGGGCCAACTCCCT	0.488																																						ENST00000367049.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(6496-6498)gGc>gAc		complement component (3b/4b) receptor 1 (Knops blood group)							273.0	262.0	266.0					1																	207785308		1936	4132	6068	SO:0001583	missense	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207785308G>A	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6497G>A	1.37:g.207785308G>A	ENSP00000356016:p.Gly2166Asp					CR1_ENST00000367052.1_Missense_Mutation_p.G1716D|CR1_ENST00000367051.1_Missense_Mutation_p.G1716D|CR1_ENST00000400960.2_Missense_Mutation_p.G1716D|CR1_ENST00000367053.1_Missense_Mutation_p.G1716D	p.G2166D	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			39	6497	+			1716					Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	c.6497G>A	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.958684	0.00465	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82	3.21	-1.18	0.09617	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	T	0.16300	0.0392	L	0.31120	0.905	0.09310	N	1	B;B	0.28713	0.002;0.22	B;B	0.32762	0.006;0.152	T	0.36696	-0.9737	9	0.20519	T	0.43	.	6.8921	0.24234	0.7728:0.0:0.2272:0.0	.	1716;2166	P17927;E9PDY4	CR1_HUMAN;.	D	1716;1716;1716;1716;2166	ENSP00000356019:G1716D;ENSP00000356018:G1716D;ENSP00000356020:G1716D;ENSP00000383744:G1716D;ENSP00000356016:G2166D	ENSP00000356016:G2166D	G	+	2	0	CR1	205851931	0.000000	0.05858	0.000000	0.03702	0.600000	0.36913	0.102000	0.15272	-0.240000	0.09696	0.511000	0.50034	GGC		0.488	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		9	1373	0	0	0	0.00116845	0	9	1373				
DPY19L2P2	349152	broad.mit.edu	37	7	102825946	102825946	+	RNA	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:102825946C>T	ENST00000312132.4	-	0	3751							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										GACAGCTTGACACTTGCCATT	0.373																																						ENST00000312132.4																			0																																																			0							g.chr7:102825946C>T	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102825946C>T														0	3751	-								Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																						0.373	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		7	344	0	0	0	0.000673444	0	7	344				
CCDC178	374864	broad.mit.edu	37	18	30846964	30846964	+	Missense_Mutation	SNP	A	A	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr18:30846964A>G	ENST00000383096.3	-	14	1507	c.1325T>C	c.(1324-1326)aTt>aCt	p.I442T	CCDC178_ENST00000583930.1_Missense_Mutation_p.I442T|CCDC178_ENST00000300227.8_Missense_Mutation_p.I442T|CCDC178_ENST00000402325.1_Missense_Mutation_p.I442T|CCDC178_ENST00000403303.1_Missense_Mutation_p.I442T|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000406524.2_Missense_Mutation_p.I442T|CCDC178_ENST00000579947.1_Missense_Mutation_p.I442T			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	442																	TGCCAAAGAAATAGCTGAAAA	0.269																																						ENST00000383096.3																			0											c.(1324-1326)aTt>aCt		coiled-coil domain containing 178							52.0	52.0	52.0					18																	30846964		2203	4289	6492	SO:0001583	missense	374864							g.chr18:30846964A>G	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.1325T>C	18.37:g.30846964A>G	ENSP00000372576:p.Ile442Thr					CCDC178_ENST00000579947.1_Missense_Mutation_p.I442T|CCDC178_ENST00000300227.8_Missense_Mutation_p.I442T|CCDC178_ENST00000403303.1_Missense_Mutation_p.I442T|CCDC178_ENST00000406524.2_Missense_Mutation_p.I442T|CCDC178_ENST00000402325.1_Missense_Mutation_p.I442T|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000583930.1_Missense_Mutation_p.I442T	p.I442T							14	1507	-								A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	c.1325T>C	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	A	5.280	0.237027	0.10023	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31	4.16	4.16	0.48862	.	.	.	.	.	T	0.39332	0.1074	L	0.50333	1.59	0.09310	N	1	P;P;P;P	0.46784	0.884;0.884;0.884;0.884	P;P;P;P	0.48677	0.503;0.586;0.509;0.586	T	0.13072	-1.0523	9	0.30078	T	0.28	0.483	9.8834	0.41247	1.0:0.0:0.0:0.0	.	442;442;442;442	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	T	442	ENSP00000385591:I442T;ENSP00000372576:I442T;ENSP00000300227:I442T;ENSP00000385867:I442T;ENSP00000385234:I442T	ENSP00000300227:I442T	I	-	2	0	C18orf34	29100962	0.109000	0.22037	0.005000	0.12908	0.004000	0.04260	3.359000	0.52292	2.101000	0.63845	0.377000	0.23210	ATT		0.269	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		25	343	0	0	0	0.000878237	0	25	343				
KMT2D	8085	broad.mit.edu	37	12	49416371	49416371	+	Splice_Site	SNP	A	A	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:49416371A>C	ENST00000301067.7	-	51	16338		c.e51+1			NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D						chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GCCAGCTCATACCTGCTCTTC	0.547																																						ENST00000301067.7																			0											c.e51+1		lysine (K)-specific methyltransferase 2D							159.0	162.0	161.0					12																	49416371		2028	4187	6215	SO:0001630	splice_region_variant	8085							g.chr12:49416371A>C	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.16338+1T>G	12.37:g.49416371A>C								NM_003482.3	NP_003473.3					51	16338	-								O14687	Splice_Site	SNP	ENST00000301067.7	37		CCDS44873.1	.	.	.	.	.	.	.	.	.	.	A	13.66	2.303615	0.40795	.	.	ENSG00000167548	ENST00000301067;ENST00000526209	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0915	0.64993	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MLL2	47702638	1.000000	0.71417	0.998000	0.56505	0.434000	0.31775	8.672000	0.91181	2.040000	0.60383	0.482000	0.46254	.		0.547	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		Intron	11	916	0	0	0	0.00185496	0	11	916				
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C	rs200733272|rs371950649	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:49926533G>C	ENST00000270631.1	-	1	165	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	CTD-3148I10.1_ENST00000576655.1_5'Flank	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692													g|||	17	0.00339457	0.003	0.0043	5008	,	,		11369	0.004		0.002	False		,,,				2504	0.0041					ENST00000270631.1																			2	Substitution - Missense(2)	p.L22V(2)	endometrium(2)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6						c.(64-66)Ctg>Gtg		parathyroid hormone 2			VAL/LEU	12,4376		0,12,2182	12.0	16.0	14.0		64	3.3	0.0	19		14	11,8561		0,11,4275	no	missense	PTH2	NM_178449.3	32	0,23,6457	CC,CG,GG		0.1283,0.2735,0.1775	possibly-damaging	22/101	49926533	23,12937	2194	4286	6480	SO:0001583	missense	113091				neuropeptide signaling pathway	extracellular region		g.chr19:49926533G>C	AY037555	CCDS12763.1	19q13.33	2013-02-28				ENSG00000142538		"""Endogenous ligands"""	30828	protein-coding gene	gene with protein product	"""tuberoinfundibular 39 residues"""	608386				11861531	Standard	NM_178449		Approved	TIP39	uc002pnn.1	Q96A98		ENST00000270631.1:c.64C>G	19.37:g.49926533G>C	ENSP00000270631:p.Leu22Val						p.L22V	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)	1	165	-			22					Q96DJ4	Missense_Mutation	SNP	ENST00000270631.1	37	c.64C>G	CCDS12763.1	.	.	.	.	.	.	.	.	.	.	g	6.292	0.421904	0.11928	0.002735	0.001283	ENSG00000142538	ENST00000270631	.	.	.	4.3	3.26	0.37387	.	0.489236	0.15528	U	0.257640	T	0.26521	0.0648	L	0.27053	0.805	0.09310	N	1	P	0.46142	0.873	B	0.39419	0.299	T	0.08066	-1.0740	9	0.87932	D	0	-7.2733	12.3672	0.55234	0.0:0.1717:0.8283:0.0	.	22	Q96A98	TIP39_HUMAN	V	22	.	ENSP00000270631:L22V	L	-	1	2	PTH2	54618345	0.088000	0.21588	0.012000	0.15200	0.011000	0.07611	-0.504000	0.06375	0.947000	0.37659	-0.370000	0.07254	CTG		0.692	PTH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465366.1	NM_178449		6	100	0	0	0	0.00116845	0	6	100				
MAP4K3	8491	broad.mit.edu	37	2	39492429	39492429	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:39492429C>T	ENST00000263881.3	-	28	2375	c.2051G>A	c.(2050-2052)gGc>gAc	p.G684D	MAP4K3_ENST00000437545.1_Missense_Mutation_p.G600D|MAP4K3_ENST00000536018.1_Missense_Mutation_p.G237D|MAP4K3_ENST00000341681.5_Missense_Mutation_p.G663D	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	684	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				GTATTTATGGCCCGTGTAAGG	0.313																																						ENST00000263881.3																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2050-2052)gGc>gAc		mitogen-activated protein kinase kinase kinase kinase 3							111.0	123.0	119.0					2																	39492429		2203	4295	6498	SO:0001583	missense	8491				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:39492429C>T	AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.2051G>A	2.37:g.39492429C>T	ENSP00000263881:p.Gly684Asp					MAP4K3_ENST00000437545.1_Missense_Mutation_p.G600D|MAP4K3_ENST00000536018.1_Missense_Mutation_p.G237D|MAP4K3_ENST00000341681.5_Missense_Mutation_p.G663D	p.G684D	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN			28	2375	-		all_hematologic(82;0.211)	684			CNH.		Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	ENST00000263881.3	37	c.2051G>A	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.342466	0.61073	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681;ENST00000536018	T;T;T;T	0.04970	3.52;3.52;3.52;3.52	5.05	5.05	0.67936	Citron-like (3);	0.052839	0.85682	D	0.000000	T	0.21801	0.0525	L	0.58810	1.83	0.80722	D	1	P;D	0.63880	0.571;0.993	P;D	0.68192	0.453;0.956	T	0.00154	-1.1981	10	0.41790	T	0.15	.	18.5768	0.91158	0.0:1.0:0.0:0.0	.	663;684	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	D	684;600;663;237	ENSP00000263881:G684D;ENSP00000416958:G600D;ENSP00000345434:G663D;ENSP00000440580:G237D	ENSP00000263881:G684D	G	-	2	0	MAP4K3	39345933	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.493000	0.81493	2.615000	0.88500	0.591000	0.81541	GGC		0.313	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618		7	1206	0	0	0	0.000602214	0	7	1206				
PNLIPRP3	119548	broad.mit.edu	37	10	118203960	118203960	+	Missense_Mutation	SNP	A	A	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:118203960A>C	ENST00000369230.3	+	4	537	c.391A>C	c.(391-393)Atc>Ctc	p.I131L		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	131					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		ACGGGAATACATCCATGCTGT	0.318																																						ENST00000369230.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(391-393)Atc>Ctc		pancreatic lipase-related protein 3							169.0	160.0	163.0					10																	118203960		2203	4300	6503	SO:0001583	missense	119548				lipid catabolic process	extracellular region	triglyceride lipase activity	g.chr10:118203960A>C	BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.391A>C	10.37:g.118203960A>C	ENSP00000358232:p.Ile131Leu						p.I131L	NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN		all cancers(201;0.0131)	4	537	+			131						Missense_Mutation	SNP	ENST00000369230.3	37	c.391A>C	CCDS31292.1	.	.	.	.	.	.	.	.	.	.	A	13.04	2.117608	0.37339	.	.	ENSG00000203837	ENST00000369230	D	0.90620	-2.7	5.28	-0.352	0.12598	Lipase, N-terminal (1);	0.753542	0.11427	N	0.565260	T	0.82070	0.4957	L	0.33668	1.02	0.09310	N	1	B	0.11235	0.004	B	0.15052	0.012	T	0.69435	-0.5146	10	0.66056	D	0.02	.	2.765	0.05317	0.6175:0.1526:0.1158:0.114	.	131	Q17RR3	LIPR3_HUMAN	L	131	ENSP00000358232:I131L	ENSP00000358232:I131L	I	+	1	0	PNLIPRP3	118193950	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	0.284000	0.18864	-0.211000	0.10124	0.482000	0.46254	ATC		0.318	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404		10	534	0	0	0	0.000978159	0	10	534				
GPR4	2828	broad.mit.edu	37	19	46094142	46094142	+	Missense_Mutation	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:46094142G>T	ENST00000323040.4	-	2	1927	c.983C>A	c.(982-984)aCc>aAc	p.T328N	OPA3_ENST00000544371.1_Intron|GPR4_ENST00000591614.1_5'Flank	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	328					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CCTCTTGGAGGTGAGTGGGGT	0.652																																					Esophageal Squamous(117;181 1612 1673 14956 42937)	ENST00000323040.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(982-984)aCc>aAc		G protein-coupled receptor 4							95.0	85.0	88.0					19																	46094142		2203	4300	6503	SO:0001583	missense	2828					integral to plasma membrane	G-protein coupled receptor activity	g.chr19:46094142G>T	BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"""GPCR / Class A : Orphans"""	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.983C>A	19.37:g.46094142G>T	ENSP00000319744:p.Thr328Asn					OPA3_ENST00000544371.1_Intron	p.T328N	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)	2	1927	-			328					A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	ENST00000323040.4	37	c.983C>A	CCDS12669.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.674372	0.47781	.	.	ENSG00000177464	ENST00000323040	T	0.61742	0.08	4.53	4.53	0.55603	.	0.190762	0.35378	N	0.003255	T	0.32133	0.0819	N	0.08118	0	0.30785	N	0.741534	B	0.34103	0.437	B	0.27500	0.08	T	0.28870	-1.0030	10	0.19147	T	0.46	.	12.6317	0.56661	0.0:0.0:1.0:0.0	.	328	P46093	GPR4_HUMAN	N	328	ENSP00000319744:T328N	ENSP00000319744:T328N	T	-	2	0	GPR4	50785982	0.977000	0.34250	0.425000	0.26659	0.971000	0.66376	6.583000	0.74053	2.356000	0.79943	0.455000	0.32223	ACC		0.652	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1	NM_005282		13	549	1	0	1.5739e-10	0.000422831	7.70189e-10	13	549				
GLI3	2737	broad.mit.edu	37	7	42116379	42116379	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:42116379C>T	ENST00000395925.3	-	4	529	c.445G>A	c.(445-447)Gat>Aat	p.D149N	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	149					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GGAGATGGATCGTAATGGTAA	0.433									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(445-447)Gat>Aat		GLI family zinc finger 3							167.0	142.0	150.0					7																	42116379		2203	4300	6503	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42116379C>T		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.445G>A	7.37:g.42116379C>T	ENSP00000379258:p.Asp149Asn					GLI3_ENST00000479210.1_5'UTR	p.D149N	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			4	529	-			149					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.445G>A	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	C	31	5.070585	0.93950	.	.	ENSG00000106571	ENST00000395925;ENST00000448703	T;T	0.69561	-0.41;-0.41	5.65	5.65	0.86999	.	0.099090	0.64402	D	0.000003	T	0.72510	0.3469	L	0.34521	1.04	0.80722	D	1	D	0.67145	0.996	P	0.57960	0.83	T	0.74411	-0.3674	10	0.72032	D	0.01	.	20.0781	0.97751	0.0:1.0:0.0:0.0	.	149	P10071	GLI3_HUMAN	N	149	ENSP00000379258:D149N;ENSP00000406135:D149N	ENSP00000379258:D149N	D	-	1	0	GLI3	42082904	1.000000	0.71417	0.966000	0.40874	0.990000	0.78478	7.252000	0.78309	2.817000	0.96982	0.563000	0.77884	GAT		0.433	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		8	359	0	0	0	0.000673444	0	8	359				
COL1A2	1278	broad.mit.edu	37	7	94039063	94039063	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:94039063G>A	ENST00000297268.6	+	19	1436	c.965G>A	c.(964-966)gGc>gAc	p.G322D		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	322					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGGGCTCCCGGCCTCCCTGGA	0.577										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(964-966)gGc>gAc		collagen, type I, alpha 2	Collagenase(DB00048)						98.0	101.0	100.0					7																	94039063		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94039063G>A	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.965G>A	7.37:g.94039063G>A	ENSP00000297268:p.Gly322Asp	HNSCC(75;0.22)					p.G322D	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		19	1436	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		322					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.965G>A	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335985	0.81801	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.99619	-6.28	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.99796	0.9913	H	0.96365	3.81	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97235	0.9887	10	0.87932	D	0	.	19.966	0.97266	0.0:0.0:1.0:0.0	.	322	P08123	CO1A2_HUMAN	D	322;323	ENSP00000297268:G322D	ENSP00000297268:G322D	G	+	2	0	COL1A2	93876999	1.000000	0.71417	0.985000	0.45067	0.772000	0.43724	9.439000	0.97543	2.802000	0.96397	0.655000	0.94253	GGC		0.577	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		25	301	0	0	0	0.000720815	0	25	301				
RPS6KA5	9252	broad.mit.edu	37	14	91372565	91372565	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr14:91372565C>T	ENST00000261991.3	-	8	1058	c.885G>A	c.(883-885)atG>atA	p.M295I	RPS6KA5_ENST00000418736.2_Missense_Mutation_p.M295I|RPS6KA5_ENST00000556304.1_5'UTR|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.M216I	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	295	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TGGGATCTTTCATCAAAAGAC	0.383																																						ENST00000261991.3																			0				endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24						c.(883-885)atG>atA		ribosomal protein S6 kinase, 90kDa, polypeptide 5							114.0	106.0	108.0					14																	91372565		2203	4300	6503	SO:0001583	missense	9252				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:91372565C>T	AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"""ribosomal protein S6 kinase, 90kD, polypeptide 5"""			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.885G>A	14.37:g.91372565C>T	ENSP00000261991:p.Met295Ile					RPS6KA5_ENST00000418736.2_Missense_Mutation_p.M295I|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.M216I|RPS6KA5_ENST00000556304.1_5'UTR	p.M295I	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)	8	1058	-		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)	295			Protein kinase 1.		O95316|Q96AF7	Missense_Mutation	SNP	ENST00000261991.3	37	c.885G>A	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.031697	0.35797	.	.	ENSG00000100784	ENST00000261991;ENST00000536315;ENST00000418736	T;T;T	0.52983	0.64;0.64;0.64	5.33	5.33	0.75918	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.239079	0.49916	D	0.000136	T	0.24812	0.0602	N	0.03999	-0.3	0.41859	D	0.990216	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.09292	-1.0681	10	0.35671	T	0.21	.	9.9904	0.41868	0.0:0.8486:0.0:0.1514	.	295;295	O75582-2;O75582	.;KS6A5_HUMAN	I	295;216;295	ENSP00000261991:M295I;ENSP00000442803:M216I;ENSP00000402787:M295I	ENSP00000261991:M295I	M	-	3	0	RPS6KA5	90442318	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	1.240000	0.32731	2.640000	0.89533	0.585000	0.79938	ATG		0.383	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755		6	406	0	0	0	0.00198382	0	6	406				
KIAA0825	285600	broad.mit.edu	37	5	93856355	93856355	+	Silent	SNP	A	A	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:93856355A>G	ENST00000329378.7	-	5	817	c.568T>C	c.(568-570)Tta>Cta	p.L190L	KIAA0825_ENST00000427991.2_Silent_p.L190L|KIAA0825_ENST00000312498.7_Silent_p.L190L|KIAA0825_ENST00000513200.3_Silent_p.L190L	NM_173665.2	NP_775936.1	Q8IV33	K0825_HUMAN	KIAA0825	190										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						TTTTTCAATAAAATTTTTTGC	0.318																																						ENST00000513200.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						c.(568-570)Tta>Cta		KIAA0825							110.0	113.0	112.0					5																	93856355		2203	4299	6502	SO:0001819	synonymous_variant	285600							g.chr5:93856355A>G	BX648338	CCDS4070.1	5q15	2011-02-23	2011-02-23	2011-02-23	ENSG00000185261	ENSG00000185261			28532	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 36"""	C5orf36		12477932	Standard	NM_173665		Approved	DKFZp686F0372, MGC34713	uc011cuk.2	Q8IV33	OTTHUMG00000131331	ENST00000329378.7:c.568T>C	5.37:g.93856355A>G						KIAA0825_ENST00000427991.2_Silent_p.L190L|KIAA0825_ENST00000312498.7_Silent_p.L190L|KIAA0825_ENST00000329378.7_Silent_p.L190L	p.L190L	NM_001145678.1	NP_001139150.1	Q8IV33	K0825_HUMAN			4	640	-			190					O94914|Q6ZNN2	Silent	SNP	ENST00000329378.7	37	c.568T>C	CCDS4070.1																																																																																				0.318	KIAA0825-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371180.2	NM_173665		22	334	0	0	0	0.000720815	0	22	334				
SGSM3	27352	broad.mit.edu	37	22	40797636	40797636	+	Missense_Mutation	SNP	C	C	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr22:40797636C>G	ENST00000248929.9	+	3	236	c.47C>G	c.(46-48)aCt>aGt	p.T16S	SGSM3_ENST00000454798.2_Intron	NM_015705.4	NP_056520.2			small G protein signaling modulator 3											cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						TCAGCCCTGACTCCGAGCATA	0.567																																						ENST00000248929.9																			0				cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						c.(46-48)aCt>aGt		small G protein signaling modulator 3							142.0	136.0	138.0					22																	40797636		2203	4300	6503	SO:0001583	missense	27352				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding	g.chr22:40797636C>G	AL022238	CCDS14002.1	22q13.1-q13.2	2013-07-09	2007-08-14	2007-08-14	ENSG00000100359	ENSG00000100359		"""Small G protein signaling modulators"""	25228	protein-coding gene	gene with protein product	"""RUN and SH3 containing 3"""	610440	"""RUN and TBC1 domain containing 3"""	RUTBC3		11214971, 17509819	Standard	XM_005261572		Approved	DJ1042K10.2, RUSC3, RabGAP-5, RABGAP5	uc003ayu.1	Q96HU1	OTTHUMG00000151141	ENST00000248929.9:c.47C>G	22.37:g.40797636C>G	ENSP00000248929:p.Thr16Ser					SGSM3_ENST00000454798.2_Intron	p.T16S	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN			3	236	+			16						Missense_Mutation	SNP	ENST00000248929.9	37	c.47C>G	CCDS14002.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.814574	0.90790	.	.	ENSG00000100359	ENST00000248929	T	0.13901	2.55	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.31482	0.0798	M	0.71581	2.175	0.80722	D	1	P;P;P	0.48230	0.887;0.907;0.907	P;B;B	0.52217	0.693;0.437;0.437	T	0.01045	-1.1470	10	0.54805	T	0.06	.	19.6801	0.95958	0.0:1.0:0.0:0.0	.	16;16;16	Q96HU1-2;B9A6J5;Q96HU1	.;.;SGSM3_HUMAN	S	16	ENSP00000248929:T16S	ENSP00000248929:T16S	T	+	2	0	SGSM3	39127582	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.973000	0.76116	2.749000	0.94314	0.655000	0.94253	ACT		0.567	SGSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321504.2	NM_015705		108	226	0	0	0	0.000781405	0	108	226				
TTN	7273	broad.mit.edu	37	2	179579856	179579856	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:179579856C>T	ENST00000591111.1	-	88	25330	c.25106G>A	c.(25105-25107)gGc>gAc	p.G8369D	TTN_ENST00000342992.6_Missense_Mutation_p.G7442D|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G8686D|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12543	Ig-like 66.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.G7442D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTACTTCTTGCCGCTCCTAAG	0.443																																						ENST00000589042.1																			1	Substitution - Missense(1)	p.G7442D(1)	lung(1)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(26056-26058)gGc>gAc		titin							327.0	308.0	314.0					2																	179579856		1930	4126	6056	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179579856C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.25106G>A	2.37:g.179579856C>T	ENSP00000465570:p.Gly8369Asp					TTN_ENST00000591111.1_Missense_Mutation_p.G8369D|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G7442D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	p.G8686D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		90	26281	-			8369			Ig-like 69.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.26057G>A		.	.	.	.	.	.	.	.	.	.	C	16.73	3.205284	0.58234	.	.	ENSG00000155657	ENST00000342992	T	0.41400	1.0	5.62	5.62	0.85841	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39963	0.1098	N	0.25825	0.765	0.80722	D	1	B	0.29671	0.254	B	0.35770	0.21	T	0.34925	-0.9809	9	0.87932	D	0	.	19.6592	0.95857	0.0:1.0:0.0:0.0	.	8369	Q8WZ42	TITIN_HUMAN	D	7442	ENSP00000343764:G7442D	ENSP00000343764:G7442D	G	-	2	0	TTN	179288101	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.672000	0.46850	2.653000	0.90120	0.655000	0.94253	GGC		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	871	0	0	0	0.00116845	0	6	871				
PRSS3P2	154754	broad.mit.edu	37	7	142482242	142482242	+	RNA	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:142482242G>A	ENST00000603901.1	+	0	622					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										GGTCTGCAATGGACAGCTTCA	0.493																																						ENST00000603901.1																			0																																																			0							g.chr7:142482242G>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482242G>A								NR_001296.3						0	622	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.493	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		6	243	0	0	0	0.000274275	0	6	243				
ZNF555	148254	broad.mit.edu	37	19	2852530	2852530	+	Missense_Mutation	SNP	G	G	A	rs370507327		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:2852530G>A	ENST00000334241.4	+	4	605	c.467G>A	c.(466-468)cGc>cAc	p.R156H	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Missense_Mutation_p.R155H	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	156					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(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGCATCGCCGCACATCCCTC	0.468																																						ENST00000334241.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23						c.(466-468)cGc>cAc		zinc finger protein 555							157.0	138.0	145.0					19																	2852530		2203	4300	6503	SO:0001583	missense	148254				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2852530G>A	AL832140	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			ENSG00000186300	ENSG00000186300		"""Zinc fingers, C2H2-type"", ""-"""	28382	protein-coding gene	gene with protein product						12477932	Standard	NM_152791		Approved	MGC26707	uc002lwo.3	Q8NEP9	OTTHUMG00000180500	ENST00000334241.4:c.467G>A	19.37:g.2852530G>A	ENSP00000334853:p.Arg156His					AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Missense_Mutation_p.R155H	p.R156H	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	605	+			156					A8KA89|K7EQM2|Q8NA46|Q96MP1	Missense_Mutation	SNP	ENST00000334241.4	37	c.467G>A	CCDS12096.1	.	.	.	.	.	.	.	.	.	.	G	7.901	0.734449	0.15574	.	.	ENSG00000186300	ENST00000334241;ENST00000382127	T	0.76448	-1.02	3.4	-6.8	0.01709	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.54062	0.1835	N	0.20685	0.6	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42965	-0.9420	9	0.12430	T	0.62	.	7.4147	0.27038	0.2247:0.2852:0.4901:0.0	.	156;155	Q8NEP9;A8KA89	ZN555_HUMAN;.	H	156;155	ENSP00000334853:R156H	ENSP00000334853:R156H	R	+	2	0	ZNF555	2803530	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.082000	0.14847	-1.664000	0.01479	-1.567000	0.00876	CGC		0.468	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451637.3	NM_152791		5	379	0	0	0	0.00116845	0	5	379				
RPL36	25873	broad.mit.edu	37	19	5691442	5691442	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:5691442C>T	ENST00000577222.1	+	5	750	c.206C>T	c.(205-207)gCc>gTc	p.A69V	RPL36_ENST00000579649.1_Missense_Mutation_p.A69V|RPL36_ENST00000347512.3_Missense_Mutation_p.A69V|RPL36_ENST00000579446.1_Missense_Mutation_p.A69V|RPL36_ENST00000394580.2_Missense_Mutation_p.A69V			Q9Y3U8	RL36_HUMAN	ribosomal protein L36	69					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|upper_aerodigestive_tract(1)	2						GACAAACGGGCCCTCAAATTT	0.642											OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000577222.1																			0				breast(1)|upper_aerodigestive_tract(1)	2						c.(205-207)gCc>gTc		ribosomal protein L36							44.0	49.0	47.0					19																	5691442		2203	4299	6502	SO:0001583	missense	25873				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|structural constituent of ribosome	g.chr19:5691442C>T		CCDS12147.1	19p13.2	2011-04-06				ENSG00000130255		"""L ribosomal proteins"""	13631	protein-coding gene	gene with protein product							Standard	NM_033643		Approved	DKFZp566B023, L36	uc002mcv.3	Q9Y3U8		ENST00000577222.1:c.206C>T	19.37:g.5691442C>T	ENSP00000464342:p.Ala69Val		OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	628	RPL36_ENST00000579446.1_Missense_Mutation_p.A69V|RPL36_ENST00000347512.3_Missense_Mutation_p.A69V|RPL36_ENST00000394580.2_Missense_Mutation_p.A69V|RPL36_ENST00000579649.1_Missense_Mutation_p.A69V	p.A69V			Q9Y3U8	RL36_HUMAN			5	750	+			69					B2R4Y1|D6W634|Q6FIG1|Q9UQF6	Missense_Mutation	SNP	ENST00000577222.1	37	c.206C>T	CCDS12147.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.311575	0.81358	.	.	ENSG00000130255	ENST00000347512;ENST00000394580	T;T	0.60920	0.15;0.15	4.21	4.21	0.49690	.	0.000000	0.85682	U	0.000000	T	0.77850	0.4192	H	0.95574	3.69	0.80722	D	1	P	0.48503	0.911	P	0.53360	0.724	D	0.85194	0.1011	10	0.72032	D	0.01	.	14.0553	0.64764	0.0:1.0:0.0:0.0	.	69	Q9Y3U8	RL36_HUMAN	V	69	ENSP00000252543:A69V;ENSP00000378081:A69V	ENSP00000252543:A69V	A	+	2	0	RPL36	5642442	1.000000	0.71417	0.959000	0.39883	0.303000	0.27691	7.568000	0.82369	1.881000	0.54492	0.467000	0.42956	GCC		0.642	RPL36-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442561.1	NM_015414		7	383	0	0	0	0.00198382	0	7	383				
ACSL4	2182	broad.mit.edu	37	X	108906514	108906514	+	Missense_Mutation	SNP	T	T	C	rs148996116		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:108906514T>C	ENST00000469796.2	-	13	2027	c.1631A>G	c.(1630-1632)gAt>gGt	p.D544G	ACSL4_ENST00000340800.2_Missense_Mutation_p.D544G|ACSL4_ENST00000348502.6_Missense_Mutation_p.D503G			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	544					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	TCCATTTTCATCCACAGAATA	0.378																																					Pancreas(188;358 2127 38547 41466 45492)	ENST00000340800.2																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22						c.(1630-1632)gAt>gGt		acyl-CoA synthetase long-chain family member 4	Icosapent(DB00159)|Troglitazone(DB00197)	T	GLY/ASP,GLY/ASP	1,3834		0,1,1631,571	233.0	235.0	234.0		1508,1631	5.5	1.0	X	dbSNP_134	234	0,6728		0,0,2428,1872	no	missense,missense	ACSL4	NM_004458.2,NM_022977.2	94,94	0,1,4059,2443	CC,CT,TT,T		0.0,0.0261,0.0095	probably-damaging,probably-damaging	503/671,544/712	108906514	1,10562	2203	4300	6503	SO:0001583	missense	2182				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chrX:108906514T>C	BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"""Acyl-CoA synthetase family"""	3571	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", "" long-chain fatty-acid-Coenzyme A ligase 4"""	300157	"""fatty-acid-Coenzyme A ligase, long-chain 4"", ""mental retardation, X-linked 63"", ""mental retardation, X-linked 68"""	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.1631A>G	X.37:g.108906514T>C	ENSP00000419171:p.Asp544Gly					ACSL4_ENST00000469796.2_Missense_Mutation_p.D544G|ACSL4_ENST00000348502.6_Missense_Mutation_p.D503G	p.D544G	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN			14	2135	-			544					D3DUY2|O60848|O60849|Q5JWV8	Missense_Mutation	SNP	ENST00000469796.2	37	c.1631A>G	CCDS14548.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.608081	0.87258	2.61E-4	0.0	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800	T;T;T	0.13420	2.59;2.59;2.59	5.52	5.52	0.82312	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.49253	0.1546	H	0.94345	3.525	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.64525	-0.6387	10	0.87932	D	0	-21.9098	14.6742	0.68967	0.0:0.0:0.0:1.0	.	544	O60488	ACSL4_HUMAN	G	503;544;544	ENSP00000262835:D503G;ENSP00000419171:D544G;ENSP00000339787:D544G	ENSP00000339787:D544G	D	-	2	0	ACSL4	108793170	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.035000	0.88872	1.846000	0.53633	0.486000	0.48141	GAT		0.378	ACSL4-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358155.2	NM_004458		18	1304	0	0	0	0.000673444	0	18	1304				
MDGA2	161357	broad.mit.edu	37	14	47426671	47426671	+	Silent	SNP	G	G	A	rs368219229		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr14:47426671G>A	ENST00000399232.2	-	9	2152	c.1788C>T	c.(1786-1788)taC>taT	p.Y596Y	MDGA2_ENST00000426342.1_Silent_p.Y367Y|SNORA25_ENST00000515926.1_RNA|MDGA2_ENST00000357362.3_Silent_p.Y367Y|MDGA2_ENST00000439988.3_Silent_p.Y665Y	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	596	Ig-like 6.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TCTTCACAGCGTACTCTGTGT	0.443																																						ENST00000426342.1																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.(1099-1101)taC>taT		MAM domain containing glycosylphosphatidylinositol anchor 2		G	,	0,3798		0,0,1899	98.0	96.0	97.0		1995,1101	2.7	1.0	14		97	1,8243		0,1,4121	no	coding-synonymous,coding-synonymous	MDGA2	NM_001113498.2,NM_182830.3	,	0,1,6020	AA,AG,GG		0.0121,0.0,0.0083	,	665/1026,367/728	47426671	1,12041	1899	4122	6021	SO:0001819	synonymous_variant	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47426671G>A	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1788C>T	14.37:g.47426671G>A						MDGA2_ENST00000399232.2_Silent_p.Y665Y|MDGA2_ENST00000357362.3_Silent_p.Y367Y|MDGA2_ENST00000439988.2_Silent_p.Y596Y	p.Y367Y	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN			9	1847	-			596			Ig-like 4.		F6W3S7|J3KPX6	Silent	SNP	ENST00000399232.2	37	c.1101C>T																																																																																					0.443	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		13	376	0	0	0	0.00185496	0	13	376				
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A	rs201351032	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:53856730G>A	ENST00000595091.1	+	5	3021	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000458035.1_Silent_p.K934K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368													.|||	271	0.0541134	0.0507	0.0576	5008	,	,		22260	0.0456		0.0924	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - coding silent(3)	p.K934K(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2800-2802)aaG>aaA		zinc finger protein 845																																				SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856730G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2802G>A	19.37:g.53856730G>A						ZNF845_ENST00000595091.1_Silent_p.K934K	p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2919	+			934						Silent	SNP	ENST00000595091.1	37	c.2802G>A	CCDS46170.1																																																																																				0.368	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		6	192	0	0	0	0.000274275	0	6	192				
DGCR2	9993	broad.mit.edu	37	22	19035956	19035956	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr22:19035956G>A	ENST00000263196.7	-	7	1250	c.1003C>T	c.(1003-1005)Cca>Tca	p.P335S	DGCR2_ENST00000537045.1_Missense_Mutation_p.P294S|DGCR11_ENST00000609958.1_RNA|DGCR2_ENST00000545799.1_3'UTR	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	335					cell adhesion (GO:0007155)|cognition (GO:0050890)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					GTCTCACCTGGGTCCAGACAC	0.587																																						ENST00000263196.7																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18						c.(1003-1005)Cca>Tca		DiGeorge syndrome critical region gene 2							153.0	154.0	154.0					22																	19035956		2203	4300	6503	SO:0001583	missense	9993				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding	g.chr22:19035956G>A	D79985	CCDS33598.1, CCDS54496.1	22q11.21	2008-06-12			ENSG00000070413	ENSG00000070413			2845	protein-coding gene	gene with protein product	"""integral membrane protein DGCR2"""	600594				7655455, 8630060	Standard	NM_005137		Approved	KIAA0163, LAN, IDD, DGS-C, SEZ-12	uc002zoq.1	P98153	OTTHUMG00000150141	ENST00000263196.7:c.1003C>T	22.37:g.19035956G>A	ENSP00000263196:p.Pro335Ser					DGCR2_ENST00000545799.1_3'UTR|DGCR2_ENST00000537045.1_Missense_Mutation_p.P294S	p.P335S	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN			7	1250	-	Colorectal(54;0.0993)		335					A6NIB5|A8K6K5|B5TY34|B7Z935	Missense_Mutation	SNP	ENST00000263196.7	37	c.1003C>T	CCDS33598.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711467	0.68730	.	.	ENSG00000070413	ENST00000537045;ENST00000263196	T;D	0.97114	0.87;-4.25	5.8	5.8	0.92144	.	0.100398	0.64402	D	0.000001	D	0.95338	0.8487	L	0.46157	1.445	0.80722	D	1	P;P	0.41232	0.743;0.485	B;B	0.38755	0.281;0.146	D	0.94464	0.7679	10	0.34782	T	0.22	.	19.6734	0.95921	0.0:0.0:1.0:0.0	.	291;335	B7Z3T5;P98153	.;IDD_HUMAN	S	294;335	ENSP00000440062:P294S;ENSP00000263196:P335S	ENSP00000263196:P335S	P	-	1	0	DGCR2	17415956	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.485000	0.73625	2.735000	0.93741	0.655000	0.94253	CCA		0.587	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316504.1	NM_005137		14	421	0	0	0	0.00185496	0	14	421				
POLR2A	5430	broad.mit.edu	37	17	7416998	7416998	+	Silent	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:7416998C>T	ENST00000322644.6	+	29	5814	c.5415C>T	c.(5413-5415)tcC>tcT	p.S1805S		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1805	C-terminal domain (CTD); 52 X 7 AA approximate tandem repeats of Y-[ST]-P- [STQ]-[ST]-P-[SRTEVKGN].				7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CAAGTTACTCCCCTTCCAGCC	0.572																																						ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(5413-5415)tcC>tcT		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							468.0	447.0	454.0					17																	7416998		2203	4300	6503	SO:0001819	synonymous_variant	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7416998C>T			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.5415C>T	17.37:g.7416998C>T							p.S1805S	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			29	5814	+		Prostate(122;0.173)	1805			52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].		A6NN93|B9EH88|Q6NX41	Silent	SNP	ENST00000322644.6	37	c.5415C>T	CCDS32548.1																																																																																				0.572	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		112	757	0	0	0	0.000781405	0	112	757				
FBXO40	51725	broad.mit.edu	37	3	121340995	121340995	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:121340995G>A	ENST00000338040.4	+	3	1133	c.719G>A	c.(718-720)aGc>aAc	p.S240N		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	240					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AGCTGTGAGAGCAAGAACAAG	0.458																																						ENST00000338040.4																			0				NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(718-720)aGc>aAc		F-box protein 40							68.0	74.0	72.0					3																	121340995		2203	4300	6503	SO:0001583	missense	51725				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:121340995G>A	AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.719G>A	3.37:g.121340995G>A	ENSP00000337510:p.Ser240Asn						p.S240N	NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	3	1133	+			240					B2RAX7|Q32M70|Q9ULM5	Missense_Mutation	SNP	ENST00000338040.4	37	c.719G>A	CCDS33835.1	.	.	.	.	.	.	.	.	.	.	G	0.205	-1.041439	0.02013	.	.	ENSG00000163833	ENST00000338040	T	0.43688	0.94	5.64	2.3	0.28687	.	1.305700	0.04337	N	0.353342	T	0.22475	0.0542	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.19647	-1.0299	10	0.17832	T	0.49	-0.1509	4.5317	0.12008	0.3425:0.1562:0.5013:0.0	.	240	Q9UH90	FBX40_HUMAN	N	240	ENSP00000337510:S240N	ENSP00000337510:S240N	S	+	2	0	FBXO40	122823685	0.057000	0.20700	0.014000	0.15608	0.512000	0.34134	0.903000	0.28475	0.121000	0.18284	0.591000	0.81541	AGC		0.458	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	NM_016298		4	133	0	0	0	0.00024832	0	4	133				
RYR1	6261	broad.mit.edu	37	19	39070714	39070714	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:39070714G>A	ENST00000359596.3	+	100	14457	c.14457G>A	c.(14455-14457)atG>atA	p.M4819I	RYR1_ENST00000360985.3_Missense_Mutation_p.M4814I|RYR1_ENST00000355481.4_Missense_Mutation_p.M4814I			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4819					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	ACATCGCCATGGGGGTCAAGA	0.597																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(14440-14442)atG>atA		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						134.0	93.0	107.0					19																	39070714		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39070714G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.14457G>A	19.37:g.39070714G>A	ENSP00000352608:p.Met4819Ile					RYR1_ENST00000360985.3_Missense_Mutation_p.M4814I|RYR1_ENST00000359596.3_Missense_Mutation_p.M4819I	p.M4814I	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		99	14573	+	all_cancers(60;7.91e-06)		4819		L -> F (in CCD).			Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.14442G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.962210	0.53400	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.98400	-4.91;-4.91;-4.91	4.57	4.57	0.56435	Ion transport (1);	0.000000	0.85682	U	0.000000	D	0.98040	0.9354	L	0.38953	1.18	0.58432	D	0.999997	D;D	0.54964	0.962;0.969	D;D	0.70227	0.946;0.968	D	0.98600	1.0658	10	0.46703	T	0.11	.	17.129	0.86722	0.0:0.0:1.0:0.0	.	4814;4819	P21817-2;P21817	.;RYR1_HUMAN	I	4819;4814;4814	ENSP00000352608:M4819I;ENSP00000347667:M4814I;ENSP00000354254:M4814I	ENSP00000347667:M4814I	M	+	3	0	RYR1	43762554	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.612000	0.98347	2.357000	0.79964	0.462000	0.41574	ATG		0.597	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			5	314	0	0	0	0.000602214	0	5	314				
RDX	5962	broad.mit.edu	37	11	110108333	110108333	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:110108333G>A	ENST00000343115.4	-	11	1454	c.1135C>T	c.(1135-1137)Cga>Tga	p.R379*	RDX_ENST00000528498.1_Nonsense_Mutation_p.R379*|RDX_ENST00000530301.1_Intron|RDX_ENST00000544551.1_Nonsense_Mutation_p.R243*|RDX_ENST00000528900.1_Nonsense_Mutation_p.R32*|RDX_ENST00000405097.1_Nonsense_Mutation_p.R379*	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	379	Glu-rich.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GCTCGTTTTCGTTCTTGATCC	0.423																																					Esophageal Squamous(55;25 1062 11040 28755 44273)	ENST00000343115.4																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18						c.(1135-1137)Cga>Tga		radixin							183.0	175.0	177.0					11																	110108333		2201	4298	6499	SO:0001587	stop_gained	5962				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding	g.chr11:110108333G>A	BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"""deafness, autosomal recessive 24"""	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.1135C>T	11.37:g.110108333G>A	ENSP00000342830:p.Arg379*					RDX_ENST00000530301.1_Intron|RDX_ENST00000405097.1_Nonsense_Mutation_p.R379*|RDX_ENST00000528900.1_Nonsense_Mutation_p.R32*|RDX_ENST00000544551.1_Nonsense_Mutation_p.R243*|RDX_ENST00000528498.1_Nonsense_Mutation_p.R379*	p.R379*	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)	11	1454	-		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	379			Glu-rich.		A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Nonsense_Mutation	SNP	ENST00000343115.4	37	c.1135C>T	CCDS8343.1	.	.	.	.	.	.	.	.	.	.	G	41	8.635797	0.98895	.	.	ENSG00000137710	ENST00000528498;ENST00000405097;ENST00000528900;ENST00000343115;ENST00000544551;ENST00000530085	.	.	.	5.78	3.73	0.42828	.	0.148841	0.44688	D	0.000430	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	14.0536	0.64754	0.0:0.0:0.6747:0.3253	.	.	.	.	X	379;379;32;379;243;49	.	ENSP00000342830:R379X	R	-	1	2	RDX	109613543	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.822000	0.48073	2.730000	0.93505	0.650000	0.86243	CGA		0.423	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2	NM_002906		51	576	0	0	0	0.000781405	0	51	576				
EHHADH	1962	broad.mit.edu	37	3	184910478	184910478	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:184910478G>A	ENST00000231887.3	-	7	1783	c.1708C>T	c.(1708-1710)Cga>Tga	p.R570*	EHHADH_ENST00000456310.1_Nonsense_Mutation_p.R474*|EHHADH-AS1_ENST00000417720.1_RNA	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	570	3-hydroxyacyl-CoA dehydrogenase.				fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			TGGCCAAATCGTCCTAATTCA	0.473																																						ENST00000231887.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24						c.(1708-1710)Cga>Tga		enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	NADH(DB00157)						91.0	81.0	84.0					3																	184910478		2203	4300	6503	SO:0001587	stop_gained	1962					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	g.chr3:184910478G>A	L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"""enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"""	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.1708C>T	3.37:g.184910478G>A	ENSP00000231887:p.Arg570*					EHHADH_ENST00000456310.1_Nonsense_Mutation_p.R474*	p.R570*	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		7	1783	-	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		570			3-hydroxyacyl-CoA dehydrogenase.		A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Nonsense_Mutation	SNP	ENST00000231887.3	37	c.1708C>T	CCDS33901.1	.	.	.	.	.	.	.	.	.	.	G	39	7.633440	0.98403	.	.	ENSG00000113790	ENST00000231887;ENST00000456310	.	.	.	5.91	-0.0269	0.13928	.	0.058373	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.3739	17.2992	0.87177	0.0:0.0:0.3145:0.6855	.	.	.	.	X	570;474	.	ENSP00000231887:R570X	R	-	1	2	EHHADH	186393172	1.000000	0.71417	0.893000	0.35052	0.999000	0.98932	1.576000	0.36504	0.050000	0.15949	0.655000	0.94253	CGA		0.473	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			9	366	0	0	0	0.000442599	0	9	366				
DPY19L2P2	349152	broad.mit.edu	37	7	102825947	102825947	+	RNA	SNP	A	A	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:102825947A>G	ENST00000312132.4	-	0	3750							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										ACAGCTTGACACTTGCCATTG	0.373																																						ENST00000312132.4																			0																																																			0							g.chr7:102825947A>G	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102825947A>G														0	3750	-								Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																						0.373	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		6	344	0	0	0	0.000442599	0	6	344				
TRPC7	57113	broad.mit.edu	37	5	135692940	135692940	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:135692940G>A	ENST00000513104.1	-	2	418	c.136C>T	c.(136-138)Cgc>Tgc	p.R46C	TRPC7_ENST00000355180.3_Missense_Mutation_p.R46C|TRPC7_ENST00000426057.2_Missense_Mutation_p.R46C	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	46					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCCAGGAAGCGCTCCTCCTCG	0.612																																						ENST00000513104.1																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46						c.(136-138)Cgc>Tgc		transient receptor potential cation channel, subfamily C, member 7							90.0	101.0	97.0					5																	135692940		2131	4259	6390	SO:0001583	missense	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135692940G>A	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.136C>T	5.37:g.135692940G>A	ENSP00000426070:p.Arg46Cys					TRPC7_ENST00000355180.3_Missense_Mutation_p.R46C|TRPC7_ENST00000426057.2_Missense_Mutation_p.R46C	p.R46C	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	418	-			46					A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	c.136C>T	CCDS47267.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.2|27.2	4.814083|4.814083	0.90790|0.90790	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753|ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	.|T;T;T	.|0.79247	.|-1.09;-1.25;-1.21	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85327|0.85327	0.5671|0.5671	L|L	0.55990|0.55990	1.75|1.75	0.58432|0.58432	D|D	0.999993|0.999993	.|P;D;D;D	.|0.89917	.|0.916;1.0;0.999;0.999	.|B;D;P;P	.|0.65010	.|0.232;0.931;0.899;0.899	D|D	0.86290|0.86290	0.1673|0.1673	5|10	.|0.72032	.|D	.|0.01	-15.4883|-15.4883	18.9316|18.9316	0.92568|0.92568	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|46;46;46;46	.|Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.|.;.;.;TRPC7_HUMAN	V|C	45|46	.|ENSP00000347312:R46C;ENSP00000441628:R46C;ENSP00000426070:R46C	.|ENSP00000265193:R46C	A|R	-|-	2|1	0|0	TRPC7|TRPC7	135720839|135720839	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	7.761000|7.761000	0.85260|0.85260	2.691000|2.691000	0.91804|0.91804	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.612	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		22	630	0	0	0	0.000720815	0	22	630				
ARHGAP36	158763	broad.mit.edu	37	X	130215846	130215846	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:130215846C>A	ENST00000276211.5	+	2	552	c.207C>A	c.(205-207)caC>caA	p.H69Q	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.H57Q|ARHGAP36_ENST00000370921.1_5'Flank	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	69					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CTGCTTACCACGAACTCGTGG	0.577																																						ENST00000276211.5																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						c.(205-207)caC>caA		Rho GTPase activating protein 36							112.0	98.0	103.0					X																	130215846		2203	4300	6503	SO:0001583	missense	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130215846C>A		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.207C>A	X.37:g.130215846C>A	ENSP00000276211:p.His69Gln					ARHGAP36_ENST00000370922.1_Missense_Mutation_p.H57Q	p.H69Q	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN			2	552	+			69					B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.207C>A	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.436770	0.25900	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000423277;ENST00000412432	T;T;T	0.09255	3.0;3.0;3.01	4.36	-2.17	0.07059	.	0.475884	0.18258	N	0.146730	T	0.04363	0.0120	N	0.19112	0.55	0.80722	D	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.003;0.001	T	0.44050	-0.9353	10	0.22706	T	0.39	.	1.0036	0.01482	0.4372:0.2288:0.1417:0.1922	.	38;57;69	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	Q	69;57;21;38	ENSP00000276211:H69Q;ENSP00000359960:H57Q;ENSP00000408515:H38Q	ENSP00000276211:H69Q	H	+	3	2	ARHGAP36	130043527	0.778000	0.28640	0.937000	0.37676	0.976000	0.68499	-0.888000	0.04148	-0.670000	0.05282	-0.268000	0.10319	CAC		0.577	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		40	733	1	0	3.43241e-23	0.00222228	1.75269e-22	40	733				
RNF43	54894	broad.mit.edu	37	17	56434978	56434978	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:56434978G>A	ENST00000584437.1	-	8	4114	c.2159C>T	c.(2158-2160)tCa>tTa	p.S720L	RNF43_ENST00000577716.1_Missense_Mutation_p.S720L|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000583753.1_Missense_Mutation_p.S679L|RNF43_ENST00000581868.1_Missense_Mutation_p.S593L|RNF43_ENST00000500597.2_Missense_Mutation_p.S679L|RNF43_ENST00000407977.2_Missense_Mutation_p.S720L|RNF43_ENST00000577625.1_Missense_Mutation_p.S593L			Q68DV7	RNF43_HUMAN	ring finger protein 43	720	Pro-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGTGAATTTGAGTAACAGGG	0.592																																						ENST00000584437.1																			0				NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(2158-2160)tCa>tTa		ring finger protein 43							83.0	88.0	86.0					17																	56434978		2203	4300	6503	SO:0001583	missense	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56434978G>A		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.2159C>T	17.37:g.56434978G>A	ENSP00000463069:p.Ser720Leu					RNF43_ENST00000577716.1_Missense_Mutation_p.S720L|RNF43_ENST00000500597.2_Missense_Mutation_p.S679L|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Missense_Mutation_p.S593L|RNF43_ENST00000407977.2_Missense_Mutation_p.S720L|RNF43_ENST00000577625.1_Missense_Mutation_p.S593L|RNF43_ENST00000583753.1_Missense_Mutation_p.S679L	p.S720L			Q68DV7	RNF43_HUMAN			8	4114	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		720			Pro-rich.		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	c.2159C>T	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.720039	0.48728	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.08807	3.19;3.05	5.71	5.71	0.89125	.	0.652107	0.13771	N	0.363914	T	0.10337	0.0253	N	0.19112	0.55	0.25753	N	0.985036	B;P;B	0.41131	0.13;0.739;0.079	B;P;B	0.45232	0.149;0.474;0.071	T	0.20940	-1.0260	10	0.66056	D	0.02	-8.0908	15.33	0.74200	0.0:0.0:1.0:0.0	.	679;720;720	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	L	720;679	ENSP00000385328:S720L;ENSP00000441969:S679L	ENSP00000385328:S720L	S	-	2	0	RNF43	53789977	1.000000	0.71417	0.989000	0.46669	0.968000	0.65278	3.986000	0.56937	2.698000	0.92095	0.511000	0.50034	TCA		0.592	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		37	284	0	0	0	0.000814825	0	37	284				
OPRK1	4986	broad.mit.edu	37	8	54142191	54142191	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:54142191C>T	ENST00000265572.3	-	4	1106	c.809G>A	c.(808-810)cGt>cAt	p.R270H	OPRK1_ENST00000520287.1_Missense_Mutation_p.R270H|RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Missense_Mutation_p.R181H	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	270					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	GGTGATCCTACGCAGGTTGCG	0.572																																						ENST00000265572.3																			0				NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43						c.(808-810)cGt>cAt		opioid receptor, kappa 1	Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)						78.0	83.0	81.0					8																	54142191		2203	4300	6503	SO:0001583	missense	4986				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	g.chr8:54142191C>T		CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"""GPCR / Class A : Opioid receptors"""	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.809G>A	8.37:g.54142191C>T	ENSP00000265572:p.Arg270His					RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Missense_Mutation_p.R270H|OPRK1_ENST00000524278.1_Missense_Mutation_p.R181H	p.R270H	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN			4	1106	-		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)	270					E5RHC9|Q499G4	Missense_Mutation	SNP	ENST00000265572.3	37	c.809G>A	CCDS6152.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.017222	0.54576	.	.	ENSG00000082556	ENST00000265572;ENST00000524278;ENST00000520287;ENST00000396798	T;T;T	0.73681	-0.77;-0.77;-0.77	5.8	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.047781	0.85682	D	0.000000	D	0.87176	0.6112	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89336	0.3650	10	0.87932	D	0	.	16.2563	0.82519	0.1338:0.8662:0.0:0.0	.	270	P41145	OPRK_HUMAN	H	270;181;270;256	ENSP00000265572:R270H;ENSP00000430923:R181H;ENSP00000429706:R270H	ENSP00000265572:R270H	R	-	2	0	OPRK1	54304744	1.000000	0.71417	0.055000	0.19348	0.004000	0.04260	7.818000	0.86416	1.433000	0.47394	-0.188000	0.12872	CGT		0.572	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1			7	179	0	0	0	0.000157383	0	7	179				
OSBPL11	114885	broad.mit.edu	37	3	125279224	125279224	+	Splice_Site	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:125279224C>A	ENST00000296220.5	-	8	1443	c.1154G>T	c.(1153-1155)aGa>aTa	p.R385I		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	385					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						ATTACTTACTCTTGTTAAATC	0.383																																						ENST00000296220.5																			0				NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						c.e8+1		oxysterol binding protein-like 11							159.0	138.0	145.0					3																	125279224		2203	4300	6503	SO:0001630	splice_region_variant	114885				lipid transport		lipid binding	g.chr3:125279224C>A	AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.1155+1G>T	3.37:g.125279224C>A							p.R385_splice	NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN			8	1443	-			385					A8K9I7	Splice_Site	SNP	ENST00000296220.5	37	c.1155_splice	CCDS3033.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.977820	0.74360	.	.	ENSG00000144909	ENST00000296220	T	0.34072	1.38	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.68796	0.3040	M	0.91196	3.185	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.76451	-0.2954	10	0.87932	D	0	-26.5516	18.9367	0.92589	0.0:1.0:0.0:0.0	.	385	Q9BXB4	OSB11_HUMAN	I	385	ENSP00000296220:R385I	ENSP00000296220:R385I	R	-	2	0	OSBPL11	126761914	1.000000	0.71417	0.922000	0.36590	0.516000	0.34256	7.555000	0.82223	2.776000	0.95493	0.655000	0.94253	AGA		0.383	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	NM_022776	Missense_Mutation	32	373	1	0	3.76114e-14	0.000814825	1.89311e-13	32	373				
C10orf53	282966	broad.mit.edu	37	10	50916592	50916592	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:50916592G>A	ENST00000374112.3	+	3	415	c.403G>A	c.(403-405)Gac>Aac	p.D135N	C10orf53_ENST00000535836.1_Missense_Mutation_p.D135N	NM_182554.2	NP_872360.2	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	0										endometrium(1)|lung(6)	7		all_neural(218;0.107)				caatctttgtgacctgggttg	0.488																																						ENST00000374112.3																			0				endometrium(1)|lung(6)	7						c.(403-405)Gac>Aac		chromosome 10 open reading frame 53							126.0	126.0	126.0					10																	50916592		2203	4300	6503	SO:0001583	missense	282966							g.chr10:50916592G>A	BC028127	CCDS31202.1, CCDS41521.1	10q11.23	2012-05-24			ENSG00000178645	ENSG00000178645			27421	protein-coding gene	gene with protein product						12477932	Standard	NM_182554		Approved	Em:AC069546.1	uc001jid.1	Q8N6V4	OTTHUMG00000018199	ENST00000374112.3:c.403G>A	10.37:g.50916592G>A	ENSP00000363226:p.Asp135Asn					C10orf53_ENST00000535836.1_Missense_Mutation_p.D135N	p.D135N	NM_182554.2	NP_872360.2	Q8N6V4	CJ053_HUMAN			3	415	+		all_neural(218;0.107)	0					A6NI81|A6NLE0|B9ZVK6	Missense_Mutation	SNP	ENST00000374112.3	37	c.403G>A	CCDS31202.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.594908	0.28445	.	.	ENSG00000178645	ENST00000374112;ENST00000535836	.	.	.	1.65	1.65	0.23941	.	.	.	.	.	T	0.12987	0.0315	N	0.08118	0	0.09310	N	1	P	0.41947	0.766	B	0.33521	0.165	T	0.10268	-1.0637	8	0.87932	D	0	.	6.7374	0.23417	0.0:0.0:1.0:0.0	.	135	B9ZVK6	.	N	135	.	ENSP00000363226:D135N	D	+	1	0	C10orf53	50586598	0.028000	0.19301	0.022000	0.16811	0.046000	0.14306	0.550000	0.23345	1.229000	0.43630	0.491000	0.48974	GAC		0.488	C10orf53-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048006.1	NM_182554		8	520	0	0	0	0.000274275	0	8	520				
MRVI1	10335	broad.mit.edu	37	11	10622527	10622527	+	Missense_Mutation	SNP	G	G	A	rs376317552	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:10622527G>A	ENST00000436272.1	-	14	1952	c.1874C>T	c.(1873-1875)gCg>gTg	p.A625V	MRVI1_ENST00000547195.1_Missense_Mutation_p.A561V|MRVI1_ENST00000424001.1_Missense_Mutation_p.A337V|MRVI1_ENST00000531107.1_Missense_Mutation_p.A644V|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000558540.1_Missense_Mutation_p.A337V|MRVI1_ENST00000421747.1_Missense_Mutation_p.A643V|MRVI1-AS1_ENST00000525578.1_RNA|MRVI1_ENST00000552103.1_Missense_Mutation_p.A561V|MRVI1_ENST00000541483.1_Missense_Mutation_p.A446V|MRVI1_ENST00000545852.1_Missense_Mutation_p.A337V|MRVI1_ENST00000534266.2_Missense_Mutation_p.A337V|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000423302.2_Missense_Mutation_p.A652V|MRVI1_ENST00000527509.2_Missense_Mutation_p.A561V			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	625					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CATGAGCTCCGCATGGTCCTT	0.517													G|||	2	0.000399361	0.0008	0.0	5008	,	,		21157	0.0		0.0	False		,,,				2504	0.001					ENST00000547195.1																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22						c.(1681-1683)gCg>gTg		murine retrovirus integration site 1 homolog		G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,3876		0,0,1938	191.0	186.0	187.0		1931,1682,1010,1337,1010,1955	5.4	1.0	11		187	1,8269		0,1,4134	no	missense,missense,missense,missense,missense,missense	MRVI1	NM_001098579.2,NM_001100163.2,NM_001100167.2,NM_001206880.1,NM_001206881.1,NM_130385.3	64,64,64,64,64,64	0,1,6072	AA,AG,GG		0.0121,0.0,0.0082	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	644/905,561/822,337/598,446/707,337/598,652/913	10622527	1,12145	1938	4135	6073	SO:0001583	missense	10335				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		g.chr11:10622527G>A	AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"""inositol 1,4,5-triphosphate-associated cGMP kinase substrate"", ""IP3R-associated cGMP kinase substrate"""	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.1874C>T	11.37:g.10622527G>A	ENSP00000412229:p.Ala625Val					MRVI1_ENST00000545852.1_Missense_Mutation_p.A337V|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000541483.1_Missense_Mutation_p.A446V|MRVI1_ENST00000531107.1_Missense_Mutation_p.A644V|MRVI1_ENST00000527509.2_Missense_Mutation_p.A561V|MRVI1_ENST00000423302.2_Missense_Mutation_p.A652V|MRVI1_ENST00000558540.1_Missense_Mutation_p.A337V|MRVI1_ENST00000534266.2_Missense_Mutation_p.A337V|MRVI1_ENST00000421747.1_Missense_Mutation_p.A643V|MRVI1_ENST00000424001.1_Missense_Mutation_p.A337V|MRVI1_ENST00000436272.1_Missense_Mutation_p.A625V|MRVI1_ENST00000552103.1_Missense_Mutation_p.A561V	p.A561V	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	14	2182	-			625					B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	ENST00000436272.1	37	c.1682C>T		.	.	.	.	.	.	.	.	.	.	G	35	5.484238	0.96307	0.0	1.21E-4	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000545852;ENST00000424001;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.54351	0.1853	M	0.76574	2.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.994;0.999;0.999;0.998	T	0.57075	-0.7873	10	0.72032	D	0.01	-10.4332	19.2679	0.93997	0.0:0.0:1.0:0.0	.	446;625;644;643	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	V	643;626;625;561;561;337;337;652;446;644;561	ENSP00000414598:A643V;ENSP00000412229:A625V;ENSP00000448278:A561V;ENSP00000446764:A561V;ENSP00000441971:A337V;ENSP00000401205:A337V;ENSP00000412130:A652V;ENSP00000437784:A446V;ENSP00000432436:A644V;ENSP00000432067:A561V	ENSP00000307885:A626V	A	-	2	0	MRVI1	10579103	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	9.476000	0.97823	2.557000	0.86248	0.557000	0.71058	GCG		0.517	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579		8	631	0	0	0	0.000442599	0	8	631				
GPAT2	150763	broad.mit.edu	37	2	96688465	96688465	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:96688465G>A	ENST00000434632.1	-	22	2681	c.2222C>T	c.(2221-2223)gCg>gTg	p.A741V	GPAT2_ENST00000359548.4_Missense_Mutation_p.A741V|FAHD2CP_ENST00000607780.1_RNA|GPAT2_ENST00000453542.1_Missense_Mutation_p.A670V|GPAT2_ENST00000377137.3_Missense_Mutation_p.R657W			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	741					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CTTTGGGTCCGCACACTCTGG	0.557																																						ENST00000434632.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						c.(2221-2223)gCg>gTg		glycerol-3-phosphate acyltransferase 2, mitochondrial							127.0	130.0	129.0					2																	96688465		1940	4129	6069	SO:0001583	missense	150763				glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr2:96688465G>A	BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"""cancer/testis antigen 123"""					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.2222C>T	2.37:g.96688465G>A	ENSP00000389395:p.Ala741Val					GPAT2_ENST00000453542.1_Missense_Mutation_p.A670V|GPAT2_ENST00000359548.4_Missense_Mutation_p.A741V|GPAT2_ENST00000377137.3_Missense_Mutation_p.R657W	p.A741V			Q6NUI2	GPAT2_HUMAN			22	2681	-			741					Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Missense_Mutation	SNP	ENST00000434632.1	37	c.2222C>T	CCDS42714.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	11.68|11.68	1.709764|1.709764	0.30322|0.30322	.|.	.|.	ENSG00000186281|ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542|ENST00000377137	T;T;T|T	0.79352|0.78924	-1.26;-1.26;-0.28|-1.22	4.91|4.91	-4.54|-4.54	0.03452|0.03452	.|.	.|.	.|.	.|.	.|.	T|T	0.71013|0.71013	0.3290|0.3290	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	B;B;B;B|B	0.13145|0.02656	0.007;0.001;0.001;0.006|0.0	B;B;B;B|B	0.08055|0.01281	0.003;0.001;0.001;0.003|0.0	T|T	0.60182|0.60182	-0.7313|-0.7313	9|9	0.06757|0.66056	T|D	0.87|0.02	-15.4873|-15.4873	13.7313|13.7313	0.62789|0.62789	0.2194:0.0:0.7806:0.0|0.2194:0.0:0.7806:0.0	.|.	670;747;741;670|657	E9PE95;Q6NUI2-4;Q6NUI2;B4DNZ9|Q6NUI2-3	.;.;GPAT2_HUMAN;.|.	V|W	741;741;670|657	ENSP00000352547:A741V;ENSP00000389395:A741V;ENSP00000393770:A670V|ENSP00000366341:R657W	ENSP00000352547:A741V|ENSP00000366341:R657W	A|R	-|-	2|1	0|2	GPAT2|GPAT2	96052192|96052192	0.005000|0.005000	0.15991|0.15991	0.276000|0.276000	0.24689|0.24689	0.761000|0.761000	0.43186|0.43186	-0.030000|-0.030000	0.12308|0.12308	-0.818000|-0.818000	0.04329|0.04329	-1.269000|-1.269000	0.01422|0.01422	GCG|CGG		0.557	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	NM_207328		6	583	0	0	0	0.00116845	0	6	583				
GABRG2	2566	broad.mit.edu	37	5	161580182	161580182	+	Silent	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:161580182C>T	ENST00000361925.4	+	9	1432	c.1212C>T	c.(1210-1212)taC>taT	p.Y404Y	GABRG2_ENST00000356592.3_Silent_p.Y412Y|GABRG2_ENST00000393933.4_Silent_p.Y309Y|GABRG2_ENST00000414552.2_Silent_p.Y452Y			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	404					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATGAAGAGTACGGCTATGAGT	0.488																																						ENST00000356592.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(1234-1236)taC>taT		gamma-aminobutyric acid (GABA) A receptor, gamma 2							185.0	170.0	175.0					5																	161580182		2203	4300	6503	SO:0001819	synonymous_variant	0				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161580182C>T		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.1212C>T	5.37:g.161580182C>T						GABRG2_ENST00000414552.2_Silent_p.Y452Y|GABRG2_ENST00000393933.4_Silent_p.Y309Y|GABRG2_ENST00000361925.4_Silent_p.Y404Y	p.Y412Y	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	10	1696	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	404					F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Silent	SNP	ENST00000361925.4	37	c.1236C>T	CCDS4358.1																																																																																				0.488	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			6	318	0	0	0	0.00116845	0	6	318				
CHD6	84181	broad.mit.edu	37	20	40033309	40033309	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr20:40033309G>A	ENST00000373233.3	-	37	8249	c.8072C>T	c.(8071-8073)cCt>cTt	p.P2691L	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2691					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TGCGGGCAAAGGGGCACTGGG	0.537																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(8071-8073)cCt>cTt		chromodomain helicase DNA binding protein 6							110.0	119.0	116.0					20																	40033309		2203	4300	6503	SO:0001583	missense	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40033309G>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.8072C>T	20.37:g.40033309G>A	ENSP00000362330:p.Pro2691Leu					CHD6_ENST00000480022.1_5'UTR	p.P2691L	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			37	8249	-		Myeloproliferative disorder(115;0.00425)	2691					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.8072C>T	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	0.782	-0.762079	0.02996	.	.	ENSG00000124177	ENST00000373233	D	0.85484	-1.99	5.99	-1.45	0.08828	.	0.799456	0.11164	N	0.592701	T	0.68329	0.2989	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.51872	-0.8650	10	0.20519	T	0.43	0.3624	7.7246	0.28753	0.1983:0.0893:0.6218:0.0906	.	2691	Q8TD26	CHD6_HUMAN	L	2691	ENSP00000362330:P2691L	ENSP00000362330:P2691L	P	-	2	0	CHD6	39466723	0.115000	0.22152	0.002000	0.10522	0.007000	0.05969	2.706000	0.47135	-0.113000	0.11958	-1.004000	0.02495	CCT		0.537	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			5	585	0	0	0	0.00198382	0	5	585				
KCTD7	154881	broad.mit.edu	37	7	66103879	66103879	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:66103879G>A	ENST00000275532.3	+	4	714	c.530G>A	c.(529-531)cGt>cAt	p.R177H	KCTD7_ENST00000443322.1_Missense_Mutation_p.R177H	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	177					cell death (GO:0008219)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.R177H(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GCCCGGCTGCGTGCGGTCCAG	0.577																																						ENST00000275532.3																			1	Substitution - Missense(1)	p.R177H(1)	ovary(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						c.(529-531)cGt>cAt		potassium channel tetramerization domain containing 7							62.0	63.0	63.0					7																	66103879		2203	4300	6503	SO:0001583	missense	154881					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr7:66103879G>A	AK056631	CCDS5534.1, CCDS55117.1	7q11.21	2014-09-17	2013-06-20		ENSG00000243335	ENSG00000243335			21957	protein-coding gene	gene with protein product		611725	"""potassium channel tetramerisation domain containing 7"""			12477932	Standard	NM_001167961		Approved	FLJ32069, EPM3, CLN14	uc003tve.3	Q96MP8	OTTHUMG00000129543	ENST00000275532.3:c.530G>A	7.37:g.66103879G>A	ENSP00000275532:p.Arg177His					KCTD7_ENST00000443322.1_Missense_Mutation_p.R177H	p.R177H	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN			4	714	+			177					A4D2M4|Q8IVR0	Missense_Mutation	SNP	ENST00000275532.3	37	c.530G>A	CCDS5534.1	.	.	.	.	.	.	.	.	.	.	g	34	5.320885	0.95682	.	.	ENSG00000243335	ENST00000275532;ENST00000443322	T;T	0.79033	-1.23;-1.23	5.36	5.36	0.76844	.	.	.	.	.	T	0.79411	0.4441	L	0.43152	1.355	0.80722	D	1	D	0.67145	0.996	P	0.51170	0.661	T	0.80476	-0.1366	9	0.52906	T	0.07	.	18.4294	0.90620	0.0:0.0:1.0:0.0	.	177	Q96MP8	KCTD7_HUMAN	H	177	ENSP00000275532:R177H;ENSP00000411624:R177H	ENSP00000275532:R177H	R	+	2	0	KCTD7	65741314	1.000000	0.71417	0.993000	0.49108	0.978000	0.69477	9.097000	0.94193	2.675000	0.91044	0.655000	0.94253	CGT		0.577	KCTD7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251733.2	NM_153033		5	250	0	0	0	0.00116845	0	5	250				
DNER	92737	broad.mit.edu	37	2	230377562	230377562	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:230377562C>T	ENST00000341772.4	-	6	1218	c.1084G>A	c.(1084-1086)Gcg>Acg	p.A362T		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	362	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		ATACAGCTCGCGTTGTTTTGG	0.438																																						ENST00000341772.4																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63						c.(1084-1086)Gcg>Acg		delta/notch-like EGF repeat containing							226.0	187.0	200.0					2																	230377562		2203	4300	6503	SO:0001583	missense	92737				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	g.chr2:230377562C>T	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.1084G>A	2.37:g.230377562C>T	ENSP00000345229:p.Ala362Thr						p.A362T	NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)	6	1218	-		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)	362			EGF-like 4.		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	37	c.1084G>A	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.281809	0.59758	.	.	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.94232	-3.38	5.76	5.76	0.90799	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.221819	0.45867	D	0.000328	D	0.95082	0.8407	M	0.77486	2.375	0.27064	N	0.963488	D	0.57899	0.981	P	0.50049	0.629	D	0.91199	0.4990	10	0.72032	D	0.01	.	18.7207	0.91692	0.0:1.0:0.0:0.0	.	362	Q8NFT8	DNER_HUMAN	T	362;90	ENSP00000345229:A362T	ENSP00000345229:A362T	A	-	1	0	DNER	230085806	0.921000	0.31238	0.021000	0.16686	0.046000	0.14306	5.864000	0.69575	2.724000	0.93272	0.591000	0.81541	GCG		0.438	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072		31	392	0	0	0	0.00178596	0	31	392				
PHIP	55023	broad.mit.edu	37	6	79711802	79711802	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr6:79711802G>A	ENST00000275034.4	-	17	1860	c.1693C>T	c.(1693-1695)Ctt>Ttt	p.L565F		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	565					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TCACGAATAAGTGGCCGATAA	0.358																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(1693-1695)Ctt>Ttt		pleckstrin homology domain interacting protein							113.0	104.0	107.0					6																	79711802		2203	4300	6503	SO:0001583	missense	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79711802G>A	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.1693C>T	6.37:g.79711802G>A	ENSP00000275034:p.Leu565Phe						p.L565F	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	17	1860	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	565					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	c.1693C>T	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950918	0.73787	.	.	ENSG00000146247	ENST00000275034	T	0.61392	0.11	5.63	4.75	0.60458	.	0.088632	0.45867	D	0.000337	T	0.77890	0.4198	M	0.92604	3.325	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.82327	-0.0512	9	.	.	.	-16.7819	14.5837	0.68310	0.074:0.0:0.926:0.0	.	565;565	A7J992;Q8WWQ0	.;PHIP_HUMAN	F	565	ENSP00000275034:L565F	.	L	-	1	0	PHIP	79768521	1.000000	0.71417	1.000000	0.80357	0.442000	0.32017	6.205000	0.72148	2.799000	0.96334	0.650000	0.86243	CTT		0.358	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			16	173	0	0	0	0.000958276	0	16	173				
GNB2	2783	broad.mit.edu	37	7	100276124	100276124	+	Missense_Mutation	SNP	A	A	T	rs147810006		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:100276124A>T	ENST00000303210.4	+	9	1285	c.803A>T	c.(802-804)aAc>aTc	p.N268I	GNB2_ENST00000393924.1_Missense_Mutation_p.N268I|GNB2_ENST00000393926.1_Missense_Mutation_p.N268I|GNB2_ENST00000419828.1_Missense_Mutation_p.N168I|GNB2_ENST00000436220.1_Missense_Mutation_p.N224I|GNB2_ENST00000427895.1_Missense_Mutation_p.N168I|GNB2_ENST00000424361.1_Missense_Mutation_p.N224I	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	268					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	calcium channel regulator activity (GO:0005246)|GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				TCCCATGACAACATCATCTGT	0.607																																						ENST00000303210.4																			0				endometrium(1)|lung(3)|ovary(2)|prostate(1)	7						c.(802-804)aAc>aTc		guanine nucleotide binding protein (G protein), beta polypeptide 2		A	ILE/ASN	0,4406		0,0,2203	60.0	60.0	60.0		803	4.4	1.0	7	dbSNP_134	60	2,8598		0,2,4298	no	missense	GNB2	NM_005273.3	149	0,2,6501	TT,TA,AA		0.0233,0.0,0.0154	possibly-damaging	268/341	100276124	2,13004	2203	4300	6503	SO:0001583	missense	2783				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr7:100276124A>T	M16514	CCDS5703.1	7q21.3-q22.1	2013-01-10			ENSG00000172354	ENSG00000172354		"""WD repeat domain containing"""	4398	protein-coding gene	gene with protein product	"""G protein, beta-2 subunit"", ""guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 2"", ""signal-transducing guanine nucleotide-binding regulatory protein beta subunit"", ""transducin beta chain 2"""	139390				9799793	Standard	NM_005273		Approved		uc003uwb.3	P62879	OTTHUMG00000137419	ENST00000303210.4:c.803A>T	7.37:g.100276124A>T	ENSP00000305260:p.Asn268Ile					GNB2_ENST00000436220.1_Missense_Mutation_p.N224I|GNB2_ENST00000424361.1_Missense_Mutation_p.N224I|GNB2_ENST00000419828.1_Missense_Mutation_p.N168I|GNB2_ENST00000393924.1_Missense_Mutation_p.N268I|GNB2_ENST00000427895.1_Missense_Mutation_p.N168I|GNB2_ENST00000393926.1_Missense_Mutation_p.N268I	p.N268I	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN			9	1285	+	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)	268					B3KPU1|P11016|P54312	Missense_Mutation	SNP	ENST00000303210.4	37	c.803A>T	CCDS5703.1	.	.	.	.	.	.	.	.	.	.	.	21.3	4.125242	0.77436	0.0	2.33E-4	ENSG00000172354	ENST00000303210;ENST00000436220;ENST00000424361;ENST00000419828;ENST00000427895;ENST00000393926;ENST00000393924	T;D;D;D;D;T;T	0.82619	5.0;-1.63;-1.63;-1.63;-1.63;5.0;5.0	5.67	4.45	0.53987	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.85952	0.5817	M	0.75264	2.295	0.58432	D	0.999996	B	0.32409	0.37	P	0.44732	0.459	D	0.86865	0.2032	10	0.72032	D	0.01	-11.881	10.667	0.45736	0.8397:0.1603:0.0:0.0	.	268	P62879	GBB2_HUMAN	I	268;224;224;168;168;268;268	ENSP00000305260:N268I;ENSP00000401873:N224I;ENSP00000389391:N224I;ENSP00000390543:N168I;ENSP00000400286:N168I;ENSP00000377503:N268I;ENSP00000377501:N268I	ENSP00000305260:N268I	N	+	2	0	GNB2	100114060	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.846000	0.39289	2.174000	0.68829	0.454000	0.30748	AAC		0.607	GNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268391.2	NM_005273		42	144	0	0	0	0.00195071	0	42	144				
CCT8L2	150160	broad.mit.edu	37	22	17072527	17072527	+	Missense_Mutation	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr22:17072527G>T	ENST00000359963.3	-	1	1173	c.914C>A	c.(913-915)aCa>aAa	p.T305K		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	305					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GTCCGCCAGTGTGAGGGTCTC	0.517																																						ENST00000359963.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(913-915)aCa>aAa		chaperonin containing TCP1, subunit 8 (theta)-like 2							194.0	172.0	179.0					22																	17072527		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17072527G>T	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.914C>A	22.37:g.17072527G>T	ENSP00000353048:p.Thr305Lys						p.T305K	NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN			1	1173	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	305					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.914C>A	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	g	6.540	0.467967	0.12402	.	.	ENSG00000198445	ENST00000359963	T	0.74526	-0.85	1.98	-1.43	0.08884	.	1.219940	0.06186	U	0.680487	T	0.64327	0.2588	L	0.44542	1.39	0.09310	N	1	B	0.15141	0.012	B	0.14578	0.011	T	0.53954	-0.8365	10	0.87932	D	0	-0.7241	5.2737	0.15638	0.5034:0.0:0.4966:0.0	.	305	Q96SF2	TCPQM_HUMAN	K	305	ENSP00000353048:T305K	ENSP00000353048:T305K	T	-	2	0	CCT8L2	15452527	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.513000	0.06305	-0.295000	0.08960	-1.325000	0.01285	ACA		0.517	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			9	475	1	0	0.000442599	0.000442599	0.00190174	9	475				
MUC16	94025	broad.mit.edu	37	19	9058858	9058858	+	Missense_Mutation	SNP	C	C	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:9058858C>G	ENST00000397910.4	-	3	28791	c.28588G>C	c.(28588-28590)Gag>Cag	p.E9530Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9532	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGAGTTCCTCTGTAGCACTG	0.483																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(28588-28590)Gag>Cag		mucin 16, cell surface associated							116.0	116.0	116.0					19																	9058858		1961	4150	6111	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9058858C>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.28588G>C	19.37:g.9058858C>G	ENSP00000381008:p.Glu9530Gln						p.E9530Q	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	28791	-			9532			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.28588G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	5.207	0.223796	0.09863	.	.	ENSG00000181143	ENST00000397910	T	0.21734	1.99	2.3	-0.0756	0.13726	.	.	.	.	.	T	0.10465	0.0256	N	0.08118	0	.	.	.	B	0.16603	0.018	B	0.17979	0.02	T	0.16748	-1.0392	8	0.87932	D	0	.	8.0918	0.30805	0.0:0.5336:0.4664:0.0	.	9530	B5ME49	.	Q	9530	ENSP00000381008:E9530Q	ENSP00000381008:E9530Q	E	-	1	0	MUC16	8919858	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-0.149000	0.10204	0.072000	0.16694	0.305000	0.20034	GAG		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		12	347	0	0	0	0.000978159	0	12	347				
VBP1	7411	broad.mit.edu	37	X	154464621	154464621	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:154464621C>T	ENST00000286428.5	+	5	613	c.496C>T	c.(496-498)Cga>Tga	p.R166*	VBP1_ENST00000459836.1_3'UTR|VBP1_ENST00000535916.1_Nonsense_Mutation_p.R161*	NM_003372.5	NP_003363.1	P61758	PFD3_HUMAN	von Hippel-Lindau binding protein 1	166					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)		p.R166G(1)		NS(1)|endometrium(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGACTTTCTTCGAGATCAATT	0.353																																						ENST00000286428.5																			1	Substitution - Missense(1)	p.R166G(1)	NS(1)	NS(1)|endometrium(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(496-498)Cga>Tga		von Hippel-Lindau binding protein 1							104.0	97.0	100.0					X																	154464621		2203	4300	6503	SO:0001587	stop_gained	7411				'de novo' posttranslational protein folding	nucleus|prefoldin complex	unfolded protein binding	g.chrX:154464621C>T	U56833	CCDS14765.1	Xq28	2008-07-07			ENSG00000155959	ENSG00000155959			12662	protein-coding gene	gene with protein product	"""prefoldin 3"""	300133				8674032, 9339366	Standard	NM_003372		Approved	PFD3, PFDN3	uc004fnc.3	P61758	OTTHUMG00000022666	ENST00000286428.5:c.496C>T	X.37:g.154464621C>T	ENSP00000286428:p.Arg166*					VBP1_ENST00000459836.1_3'UTR|VBP1_ENST00000535916.1_Nonsense_Mutation_p.R161*	p.R166*	NM_003372.5	NP_003363.1	P61758	PFD3_HUMAN			5	613	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		166					B2R8L5|O55228|Q15765|Q5JT81|Q86X96	Nonsense_Mutation	SNP	ENST00000286428.5	37	c.496C>T	CCDS14765.1	.	.	.	.	.	.	.	.	.	.	C	37	6.295580	0.97449	.	.	ENSG00000155959	ENST00000535916;ENST00000286428	.	.	.	4.86	4.86	0.63082	.	0.109676	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.9083	10.1751	0.42933	0.1991:0.8008:0.0:0.0	.	.	.	.	X	161;166	.	ENSP00000286428:R166X	R	+	1	2	VBP1	154117815	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.440000	0.52886	2.324000	0.78689	0.594000	0.82650	CGA		0.353	VBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058806.1			9	737	0	0	0	0.000442599	0	9	737				
MYH4	4622	broad.mit.edu	37	17	10350494	10350494	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:10350494C>T	ENST00000255381.2	-	35	5115	c.5005G>A	c.(5005-5007)Gat>Aat	p.D1669N	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1669					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.D1669N(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTAAGGTCATCTTGGCCTCTG	0.478																																						ENST00000255381.2																			1	Substitution - Missense(1)	p.D1669N(1)	central_nervous_system(1)	NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(5005-5007)Gat>Aat		myosin, heavy chain 4, skeletal muscle							129.0	106.0	113.0					17																	10350494		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10350494C>T		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.5005G>A	17.37:g.10350494C>T	ENSP00000255381:p.Asp1669Asn					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.D1669N	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			35	5115	-			1669						Missense_Mutation	SNP	ENST00000255381.2	37	c.5005G>A	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	33	5.200015	0.94997	.	.	ENSG00000141048	ENST00000255381	T	0.79845	-1.31	5.29	5.29	0.74685	Myosin tail (1);	0.189171	0.25052	U	0.033501	D	0.86226	0.5882	M	0.85197	2.74	0.52099	D	0.999943	P	0.37781	0.608	B	0.42462	0.388	D	0.88012	0.2763	10	0.72032	D	0.01	.	19.286	0.94069	0.0:1.0:0.0:0.0	.	1669	Q9Y623	MYH4_HUMAN	N	1669	ENSP00000255381:D1669N	ENSP00000255381:D1669N	D	-	1	0	MYH4	10291219	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.763000	0.85283	2.646000	0.89796	0.563000	0.77884	GAT		0.478	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		21	167	0	0	0	0.00152264	0	21	167				
PRSS3P2	154754	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493																																						ENST00000603901.1																			1	Substitution - coding silent(1)	p.P203P(1)	prostate(1)																																																0							g.chr7:142482229T>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482229T>A								NR_001296.3						0	609	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.493	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		6	229	0	0	0	0.000157383	0	6	229				
KIAA1919	91749	broad.mit.edu	37	6	111585122	111585122	+	Missense_Mutation	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr6:111585122G>T	ENST00000368847.4	+	3	639	c.286G>T	c.(286-288)Ggt>Tgt	p.G96C		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	96					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		GTCTATCTTCGGTGTTTCAAT	0.428																																						ENST00000368847.4																			0				large_intestine(3)|lung(2)|ovary(4)|skin(3)	12						c.(286-288)Ggt>Tgt		KIAA1919							198.0	184.0	189.0					6																	111585122		2203	4300	6503	SO:0001583	missense	91749				carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr6:111585122G>T	BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.286G>T	6.37:g.111585122G>T	ENSP00000357840:p.Gly96Cys						p.G96C	NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)	3	639	+		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)	96					A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Missense_Mutation	SNP	ENST00000368847.4	37	c.286G>T	CCDS5090.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.523947	0.64747	.	.	ENSG00000173214	ENST00000368847	T	0.77877	-1.13	5.8	5.8	0.92144	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.89301	0.6676	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90031	0.4135	10	0.87932	D	0	-18.7946	20.0591	0.97667	0.0:0.0:1.0:0.0	.	96	Q5TF39	NAGT1_HUMAN	C	96	ENSP00000357840:G96C	ENSP00000357840:G96C	G	+	1	0	KIAA1919	111691815	1.000000	0.71417	0.693000	0.30195	0.038000	0.13279	8.978000	0.93450	2.747000	0.94245	0.462000	0.41574	GGT		0.428	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041827.1	NM_153369		6	415	1	0	0.000157383	0.000157383	0.000693142	6	415				
PLEKHG1	57480	broad.mit.edu	37	6	151121938	151121938	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr6:151121938C>A	ENST00000358517.2	+	6	924	c.713C>A	c.(712-714)tCg>tAg	p.S238*	PLEKHG1_ENST00000367328.1_Nonsense_Mutation_p.S238*			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	238	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CTGAAACACTCGCTGCCTCTG	0.498																																						ENST00000367328.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.(712-714)tCg>tAg		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							122.0	120.0	120.0					6																	151121938		2203	4300	6503	SO:0001587	stop_gained	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151121938C>A	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.713C>A	6.37:g.151121938C>A	ENSP00000351318:p.Ser238*					PLEKHG1_ENST00000358517.2_Nonsense_Mutation_p.S238*	p.S238*	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	7	1025	+			238			DH.		Q5T1F2	Nonsense_Mutation	SNP	ENST00000358517.2	37	c.713C>A	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	C	39	7.723855	0.98453	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	.	.	.	6.16	5.3	0.74995	.	0.053244	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4253	0.75045	0.0:0.934:0.0:0.066	.	.	.	.	X	238	.	ENSP00000351318:S238X	S	+	2	0	PLEKHG1	151163631	1.000000	0.71417	0.837000	0.33122	0.491000	0.33493	7.818000	0.86416	1.623000	0.50342	0.650000	0.86243	TCG		0.498	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			6	332	1	0	0.00116845	0.00116845	0.00486239	6	332				
OR2K2	26248	broad.mit.edu	37	9	114090184	114090184	+	Missense_Mutation	SNP	G	G	A	rs137871340	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr9:114090184G>A	ENST00000374428.1	-	1	616	c.617C>T	c.(616-618)aCg>aTg	p.T206M	OR2K2_ENST00000302681.1_Missense_Mutation_p.T177M			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						AATTTCACACGTGAAGTGATC	0.517													G|||	4	0.000798722	0.0	0.0	5008	,	,		21515	0.004		0.0	False		,,,				2504	0.0					ENST00000374428.1																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						c.(616-618)aCg>aTg		olfactory receptor, family 2, subfamily K, member 2							81.0	75.0	77.0					9																	114090184		2203	4300	6503	SO:0001583	missense	26248				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:114090184G>A	X64977	CCDS6778.1	9q31.3	2012-08-09			ENSG00000171133	ENSG00000171133		"""GPCR / Class A : Olfactory receptors"""	8264	protein-coding gene	gene with protein product				OR2AR1P		1370859, 17010214	Standard	NM_205859		Approved	HTPCRH06, HSHTPCRH06	uc011lwp.2	Q8NGT1	OTTHUMG00000020488	ENST00000374428.1:c.617C>T	9.37:g.114090184G>A	ENSP00000363550:p.Thr206Met					OR2K2_ENST00000302681.1_Missense_Mutation_p.T177M	p.T206M			Q8NGT1	OR2K2_HUMAN			1	616	-			206					Q2TA61|Q5VYK4|Q6IFI5	Missense_Mutation	SNP	ENST00000374428.1	37	c.617C>T		3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	7.211	0.595400	0.13875	.	.	ENSG00000171133	ENST00000302681;ENST00000374428	T;T	0.00084	8.75;8.75	4.92	1.0	0.19881	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41712	U	0.000834	T	0.00144	0.0004	L	0.31926	0.97	0.18873	N	0.999982	D	0.89917	1.0	D	0.70716	0.97	T	0.52975	-0.8503	10	0.62326	D	0.03	.	3.5372	0.07798	0.2438:0.0:0.4545:0.3016	.	206	Q8NGT1	OR2K2_HUMAN	M	177;206	ENSP00000305055:T177M;ENSP00000363550:T206M	ENSP00000305055:T177M	T	-	2	0	OR2K2	113130005	0.000000	0.05858	0.023000	0.16930	0.086000	0.17979	0.148000	0.16224	0.096000	0.17463	-0.194000	0.12790	ACG		0.517	OR2K2-201	KNOWN	basic	protein_coding	protein_coding		NM_205859		9	205	0	0	0	0.000442599	0	9	205				
ZNF502	91392	broad.mit.edu	37	3	44763222	44763222	+	Silent	SNP	C	C	A	rs561539227		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:44763222C>A	ENST00000296091.4	+	4	1169	c.913C>A	c.(913-915)Cga>Aga	p.R305R	ZNF502_ENST00000449836.1_Silent_p.R305R|ZNF502_ENST00000436624.2_Silent_p.R305R	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	305					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		CTCTTCTTTTCGAAAACACTC	0.408																																						ENST00000296091.4																			0				NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19						c.(913-915)Cga>Aga		zinc finger protein 502							164.0	170.0	168.0					3																	44763222		2203	4300	6503	SO:0001819	synonymous_variant	91392				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44763222C>A	AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"""Zinc fingers, C2H2-type"""	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.913C>A	3.37:g.44763222C>A						ZNF502_ENST00000449836.1_Silent_p.R305R|ZNF502_ENST00000436624.2_Silent_p.R305R	p.R305R	NM_001134440.1|NM_033210.4	NP_001127912.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)	4	1169	+			305						Silent	SNP	ENST00000296091.4	37	c.913C>A	CCDS2719.1	.	.	.	.	.	.	.	.	.	.	C	4.294	0.053853	0.08291	.	.	ENSG00000196653	ENST00000427783	.	.	.	4.27	-0.248	0.13015	.	.	.	.	.	T	0.39545	0.1082	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.40478	-0.9561	5	0.87932	D	0	-0.978	6.8198	0.23851	0.4135:0.3026:0.2839:0.0	.	.	.	.	L	304	.	ENSP00000397812:F304L	F	+	3	2	ZNF502	44738226	0.547000	0.26465	0.305000	0.25099	0.935000	0.57460	2.045000	0.41250	0.132000	0.18615	0.655000	0.94253	TTC		0.408	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	NM_033210		9	713	1	0	0.000673444	0.000673444	0.00285876	9	713				
F5	2153	broad.mit.edu	37	1	169519117	169519117	+	Missense_Mutation	SNP	G	G	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:169519117G>C	ENST00000367797.3	-	10	1734	c.1533C>G	c.(1531-1533)atC>atG	p.I511M	F5_ENST00000367796.3_Missense_Mutation_p.I511M|F5_ENST00000546081.1_3'UTR	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	511	F5/8 type A 2.|Plastocyanin-like 3.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TGTCTCTCATGATGTCCACGT	0.433																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(1531-1533)atC>atG		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						210.0	187.0	195.0					1																	169519117		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169519117G>C	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.1533C>G	1.37:g.169519117G>C	ENSP00000356771:p.Ile511Met					F5_ENST00000367797.3_Missense_Mutation_p.I511M|F5_ENST00000546081.1_3'UTR	p.I511M			P12259	FA5_HUMAN			10	1734	-	all_hematologic(923;0.208)		511			F5/8 type A 2.|Plastocyanin-like 3.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.1533C>G	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	9.285	1.049094	0.19827	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.98602	-5.02;-5.02	5.71	0.262	0.15597	Cupredoxin (2);	0.596635	0.18720	N	0.133041	D	0.85600	0.5734	N	0.11064	0.09	0.25005	N	0.991444	B	0.26195	0.144	B	0.18263	0.021	T	0.74819	-0.3535	9	0.15066	T	0.55	-0.6017	7.1569	0.25643	0.2659:0.4684:0.2657:0.0	.	511	P12259	FA5_HUMAN	M	511	ENSP00000356771:I511M;ENSP00000356770:I511M	ENSP00000356770:I511M	I	-	3	3	F5	167785741	0.072000	0.21174	0.226000	0.23910	0.924000	0.55760	-0.367000	0.07553	0.060000	0.16281	-0.175000	0.13238	ATC		0.433	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		8	477	0	0	0	0.000274275	0	8	477				
RPS6KC1	26750	broad.mit.edu	37	1	213415604	213415604	+	Missense_Mutation	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:213415604G>T	ENST00000366960.3	+	11	2935	c.2785G>T	c.(2785-2787)Gat>Tat	p.D929Y	RPS6KC1_ENST00000543470.1_Missense_Mutation_p.D717Y|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.D632Y|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.D917Y	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	929	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TGTGTGCCGCGATTTGAACCC	0.438																																						ENST00000366960.3																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43						c.(2785-2787)Gat>Tat		ribosomal protein S6 kinase, 52kDa, polypeptide 1							88.0	92.0	90.0					1																	213415604		2192	4293	6485	SO:0001583	missense	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213415604G>T	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.2785G>T	1.37:g.213415604G>T	ENSP00000355927:p.Asp929Tyr					RPS6KC1_ENST00000543354.1_Missense_Mutation_p.D632Y|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.D717Y|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.D917Y	p.D929Y	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	11	2935	+			929			Protein kinase 2.		B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	c.2785G>T	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.653057	0.67472	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16	5.75	5.75	0.90469	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.098052	0.64402	D	0.000002	D	0.98191	0.9402	H	0.97659	4.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98994	1.0809	10	0.87932	D	0	-14.4772	19.9598	0.97242	0.0:0.0:1.0:0.0	.	717;929;917	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	Y	717;929;917;632	ENSP00000442306:D717Y;ENSP00000355927:D929Y;ENSP00000355926:D917Y;ENSP00000439282:D632Y	ENSP00000355926:D917Y	D	+	1	0	RPS6KC1	211482227	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.230000	0.95299	2.716000	0.92895	0.655000	0.94253	GAT		0.438	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		11	877	1	0	1.58986e-06	0.000673444	7.56976e-06	11	877				
PPP2R1A	5518	broad.mit.edu	37	19	52714630	52714630	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:52714630C>T	ENST00000322088.6	+	4	446	c.388C>T	c.(388-390)Ccg>Tcg	p.P130S	PPP2R1A_ENST00000473455.2_3'UTR|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.P75S|PPP2R1A_ENST00000462990.1_5'UTR	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	130	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.			P -> A (in Ref. 1; AAA35531). {ECO:0000305}.	apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GCACTTTGTGCCGCTAGTGAA	0.657			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6				Dom?	yes		19	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""			E			clear cell ovarian carcinoma		0				NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(388-390)Ccg>Tcg		protein phosphatase 2, regulatory subunit A, alpha							62.0	66.0	65.0					19																	52714630		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52714630C>T		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.388C>T	19.37:g.52714630C>T	ENSP00000324804:p.Pro130Ser					PPP2R1A_ENST00000444322.2_Missense_Mutation_p.P75S|PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000473455.2_3'UTR	p.P130S	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	4	446	+			130	P -> A (in Ref. 1; AAA35531).		PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.388C>T	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.624587	0.46840	.	.	ENSG00000105568	ENST00000423369;ENST00000322088;ENST00000444322	T;T	0.35973	1.28;1.28	4.46	4.46	0.54185	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000011	T	0.43897	0.1268	M	0.85373	2.75	0.58432	D	0.999999	P;P;P	0.37233	0.493;0.588;0.588	B;B;B	0.34301	0.179;0.102;0.102	T	0.56757	-0.7926	10	0.66056	D	0.02	-36.5931	15.0187	0.71609	0.0:1.0:0.0:0.0	.	75;130;130	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	S	120;130;75	ENSP00000324804:P130S;ENSP00000415067:P75S	ENSP00000324804:P130S	P	+	1	0	PPP2R1A	57406442	1.000000	0.71417	0.994000	0.49952	0.038000	0.13279	6.787000	0.75099	2.482000	0.83794	0.655000	0.94253	CCG		0.657	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		5	370	0	0	0	0.000602214	0	5	370				
CXCR6	10663	broad.mit.edu	37	3	45988477	45988477	+	Silent	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:45988477C>A	ENST00000458629.1	+	1	1967	c.504C>A	c.(502-504)atC>atA	p.I168I	CXCR6_ENST00000457814.1_Silent_p.I168I|FYCO1_ENST00000438446.1_Intron|FYCO1_ENST00000296137.2_Intron|CXCR6_ENST00000438735.1_Silent_p.I168I|CXCR6_ENST00000304552.4_Silent_p.I168I|FYCO1_ENST00000535325.1_Intron			O00574	CXCR6_HUMAN	chemokine (C-X-C motif) receptor 6	168					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|viral genome replication (GO:0019079)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CCCAAATTATCTATGGCAATG	0.502																																					Esophageal Squamous(63;1005 1117 15521 45762 47089)	ENST00000458629.1																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8						c.(502-504)atC>atA		chemokine (C-X-C motif) receptor 6							114.0	108.0	110.0					3																	45988477		2203	4300	6503	SO:0001819	synonymous_variant	10663				viral genome replication	integral to plasma membrane	coreceptor activity	g.chr3:45988477C>A	AF007545	CCDS2735.1	3p21	2012-08-08			ENSG00000172215	ENSG00000172215		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	16647	protein-coding gene	gene with protein product		605163				9166430, 9230441	Standard	XM_005264809		Approved	TYMSTR, STRL33, BONZO, CD186	uc003cpc.1	O00574	OTTHUMG00000133448	ENST00000458629.1:c.504C>A	3.37:g.45988477C>A						FYCO1_ENST00000535325.1_Intron|CXCR6_ENST00000457814.1_Silent_p.I168I|CXCR6_ENST00000438735.1_Silent_p.I168I|FYCO1_ENST00000438446.1_Intron|CXCR6_ENST00000304552.4_Silent_p.I168I|FYCO1_ENST00000296137.2_Intron	p.I168I			O00574	CXCR6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	1	1967	+			168					O00575|Q9HCA5	Silent	SNP	ENST00000458629.1	37	c.504C>A	CCDS2735.1																																																																																				0.502	CXCR6-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344395.1			8	359	1	0	1.26484e-09	0.000157383	6.16102e-09	8	359				
SPON1	10418	broad.mit.edu	37	11	14157106	14157106	+	RNA	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:14157106C>A	ENST00000310358.7	+	0	1352				RNA5SP332_ENST00000391063.1_RNA			Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GGAAGAAATTCGACAACAGGT	0.418																																						ENST00000310358.7																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21								spondin 1, extracellular matrix protein							80.0	78.0	79.0					11																	14157106		1884	4118	6002			10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14157106C>A	AB018305	CCDS73262.1	11p15.2	2014-05-06	2004-03-05		ENSG00000152268	ENSG00000262655			11252	protein-coding gene	gene with protein product		604989	"""spondin 1, (f-spondin) extracellular matrix protein"""			9872452	Standard	NM_006108		Approved	KIAA0762, f-spondin	uc001mle.3	Q9HCB6	OTTHUMG00000181576		11.37:g.14157106C>A										Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	0	1352	+								A8K6W5|O94862|Q8NCD7|Q8WUR5	RNA	SNP	ENST00000310358.7	37																																																																																						0.418	SPON1-201	KNOWN	basic	processed_transcript	processed_transcript		NM_145584		9	246	1	0	0.000978159	0.000978159	0.00411918	9	246				
NDUFV2	4729	broad.mit.edu	37	18	9126881	9126881	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr18:9126881G>A	ENST00000318388.6	+	7	746	c.632G>A	c.(631-633)gGc>gAc	p.G211D	RP11-143J12.2_ENST00000582375.1_RNA|NDUFV2_ENST00000400033.1_Missense_Mutation_p.G214D|RP11-21J18.1_ENST00000579126.1_RNA|RP11-143J12.2_ENST00000583081.1_RNA|NDUFV2_ENST00000465096.1_3'UTR	NM_021074.4	NP_066552.2	P19404	NDUV2_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	211					cardiac muscle tissue development (GO:0048738)|cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|nervous system development (GO:0007399)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|lung(4)|ovary(1)|stomach(1)	7						CTCAAGGCTGGCAAAATCCCA	0.294																																						ENST00000400033.1																			0				breast(1)|lung(4)|ovary(1)|stomach(1)	7						c.(640-642)gGc>gAc		NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	NADH(DB00157)						123.0	147.0	139.0					18																	9126881		2203	4300	6503	SO:0001583	missense	4729				cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity	g.chr18:9126881G>A	X84421	CCDS11842.1	18p11.22	2011-07-04	2002-08-29		ENSG00000178127	ENSG00000178127	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7717	protein-coding gene	gene with protein product	"""complex I 24kDa subunit"", ""NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial"""	600532	"""NADH dehydrogenase (ubiquinone) flavoprotein 2 (24kD)"""			9763677, 7607668	Standard	NM_021074		Approved	CI-24k	uc002knu.3	P19404	OTTHUMG00000131593	ENST00000318388.6:c.632G>A	18.37:g.9126881G>A	ENSP00000327268:p.Gly211Asp					NDUFV2_ENST00000318388.6_Missense_Mutation_p.G211D|RP11-143J12.2_ENST00000582375.1_RNA|NDUFV2_ENST00000465096.1_3'UTR|RP11-21J18.1_ENST00000579126.1_RNA|RP11-143J12.2_ENST00000583081.1_RNA	p.G214D			P19404	NDUV2_HUMAN			8	758	+			211					Q9BV41	Missense_Mutation	SNP	ENST00000318388.6	37	c.641G>A	CCDS11842.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560585	0.65538	.	.	ENSG00000178127	ENST00000318388;ENST00000400033	T;T	0.53206	0.63;0.63	5.41	5.41	0.78517	Thioredoxin-like fold (2);	0.045334	0.85682	D	0.000000	T	0.52805	0.1757	M	0.76328	2.33	0.80722	D	1	B	0.17465	0.022	B	0.22386	0.039	T	0.51474	-0.8701	10	0.48119	T	0.1	-9.1245	17.734	0.88387	0.0:0.0:1.0:0.0	.	211	P19404	NDUV2_HUMAN	D	211;214	ENSP00000327268:G211D;ENSP00000382908:G214D	ENSP00000327268:G211D	G	+	2	0	NDUFV2	9116881	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.698000	0.98700	2.688000	0.91661	0.655000	0.94253	GGC		0.294	NDUFV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254475.2	NM_021074		7	892	0	0	0	0.000602214	0	7	892				
PLEC	5339	broad.mit.edu	37	8	144995483	144995483	+	Missense_Mutation	SNP	C	C	T	rs200814155	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:144995483C>T	ENST00000322810.4	-	32	9086	c.8917G>A	c.(8917-8919)Gac>Aac	p.D2973N	PLEC_ENST00000354958.2_Missense_Mutation_p.D2814N|PLEC_ENST00000398774.2_Missense_Mutation_p.D2804N|PLEC_ENST00000436759.2_Missense_Mutation_p.D2863N|PLEC_ENST00000354589.3_Missense_Mutation_p.D2836N|PLEC_ENST00000356346.3_Missense_Mutation_p.D2822N|PLEC_ENST00000345136.3_Missense_Mutation_p.D2836N|PLEC_ENST00000527096.1_Missense_Mutation_p.D2859N|PLEC_ENST00000357649.2_Missense_Mutation_p.D2840N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2973	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.D2973N(1)|p.D2836N(1)|p.D2863N(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ATCTCCTCGTCGAAGTAGCCG	0.667													C|||	2	0.000399361	0.0008	0.0	5008	,	,		18707	0.0		0.001	False		,,,				2504	0.0					ENST00000322810.4																			3	Substitution - Missense(3)	p.D2973N(1)|p.D2836N(1)|p.D2863N(1)	lung(3)	NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(8917-8919)Gac>Aac		plectin		C	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	3,4015		0,3,2006	63.0	70.0	68.0		8587,8464,8440,8917,8410,8506,8518,8506	3.2	1.0	8		68	20,8308		0,20,4144	no	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	23,23,23,23,23,23,23,23	0,23,6150	TT,TC,CC		0.2402,0.0747,0.1863	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	2863/4575,2822/4534,2814/4526,2973/4685,2804/4516,2836/4548,2840/4552,2836/4548	144995483	23,12323	2009	4164	6173	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144995483C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8917G>A	8.37:g.144995483C>T	ENSP00000323856:p.Asp2973Asn					PLEC_ENST00000527096.1_Missense_Mutation_p.D2859N|PLEC_ENST00000357649.2_Missense_Mutation_p.D2840N|PLEC_ENST00000345136.3_Missense_Mutation_p.D2836N|PLEC_ENST00000356346.3_Missense_Mutation_p.D2822N|PLEC_ENST00000398774.2_Missense_Mutation_p.D2804N|PLEC_ENST00000354958.2_Missense_Mutation_p.D2814N|PLEC_ENST00000354589.3_Missense_Mutation_p.D2836N|PLEC_ENST00000436759.2_Missense_Mutation_p.D2863N	p.D2973N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	9086	-			2973			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.8917G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.128415	0.37533	7.47E-4	0.002402	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47	4.95	3.16	0.36331	.	0.000000	0.64402	U	0.000004	T	0.73024	0.3534	L	0.46885	1.475	0.51767	D	0.999934	B;B;B;B;B;B;B;B	0.33826	0.295;0.427;0.427;0.343;0.427;0.427;0.295;0.295	B;B;B;B;B;B;B;B	0.32393	0.089;0.089;0.089;0.145;0.089;0.089;0.089;0.089	T	0.70568	-0.4836	10	0.52906	T	0.07	.	11.4324	0.50050	0.0:0.85:0.0:0.15	.	2863;2822;2814;2973;2804;2836;2840;2836	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	N	2836;2840;2836;2804;2973;2814;2822;2863;2859	ENSP00000344848:D2836N;ENSP00000350277:D2840N;ENSP00000346602:D2836N;ENSP00000381756:D2804N;ENSP00000323856:D2973N;ENSP00000347044:D2814N;ENSP00000348702:D2822N;ENSP00000388180:D2863N;ENSP00000434583:D2859N	ENSP00000323856:D2973N	D	-	1	0	PLEC	145067471	0.998000	0.40836	0.995000	0.50966	0.660000	0.38997	3.898000	0.56281	0.642000	0.30620	-0.366000	0.07423	GAC		0.667	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		143	311	0	0	0	0.000781405	0	143	311				
ZFYVE28	57732	broad.mit.edu	37	4	2355738	2355738	+	Silent	SNP	G	G	A	rs542809889	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr4:2355738G>A	ENST00000290974.2	-	2	441	c.102C>T	c.(100-102)gcC>gcT	p.A34A	ZFYVE28_ENST00000515169.1_5'UTR|ZFYVE28_ENST00000509171.1_Intron|ZFYVE28_ENST00000515312.1_5'UTR|ZFYVE28_ENST00000511071.1_Silent_p.A34A|ZFYVE28_ENST00000503000.1_Silent_p.A34A	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	34					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CCAGCTCCGCGGCCACCTGGT	0.677													g|||	7	0.00139776	0.0	0.0	5008	,	,		16128	0.001		0.0	False		,,,				2504	0.0061					ENST00000290974.2																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						c.(100-102)gcC>gcT		zinc finger, FYVE domain containing 28							18.0	17.0	18.0					4																	2355738		2201	4300	6501	SO:0001819	synonymous_variant	57732				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr4:2355738G>A	AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"""Zinc fingers, FYVE domain containing"""	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.102C>T	4.37:g.2355738G>A						ZFYVE28_ENST00000509171.1_Intron|ZFYVE28_ENST00000503000.1_Silent_p.A34A|ZFYVE28_ENST00000511071.1_Silent_p.A34A|ZFYVE28_ENST00000515169.1_5'UTR|ZFYVE28_ENST00000515312.1_5'UTR	p.A34A	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN			2	441	-			34					B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Silent	SNP	ENST00000290974.2	37	c.102C>T	CCDS33942.1																																																																																				0.677	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371		7	37	0	0	0	0.00198382	0	7	37				
ADAR	103	broad.mit.edu	37	1	154569625	154569625	+	Missense_Mutation	SNP	T	T	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:154569625T>C	ENST00000368474.4	-	5	2252	c.2053A>G	c.(2053-2055)Acc>Gcc	p.T685A	ADAR_ENST00000368471.3_Missense_Mutation_p.T390A|ADAR_ENST00000292205.5_Missense_Mutation_p.T728A	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	685					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		ATGGAGTTGGTCGCCTCCCCA	0.522																																						ENST00000368474.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51						c.(2053-2055)Acc>Gcc		adenosine deaminase, RNA-specific							67.0	65.0	66.0					1																	154569625		2203	4300	6503	SO:0001583	missense	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154569625T>C	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.2053A>G	1.37:g.154569625T>C	ENSP00000357459:p.Thr685Ala					ADAR_ENST00000368471.3_Missense_Mutation_p.T390A|ADAR_ENST00000292205.5_Missense_Mutation_p.T728A	p.T685A	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	5	2252	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		685					B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	c.2053A>G	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	T	4.071	0.011032	0.07912	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	T;T;T;T	0.14022	2.74;2.75;2.54;2.76	5.43	-3.95	0.04118	.	0.826008	0.10923	N	0.619176	T	0.01222	0.0040	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.001	T	0.47837	-0.9086	10	0.06625	T	0.88	-5.3793	9.0032	0.36094	0.1254:0.5779:0.0:0.2967	.	685;685;685	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	A	728;685;390;680	ENSP00000292205:T728A;ENSP00000357459:T685A;ENSP00000357456:T390A;ENSP00000431794:T680A	ENSP00000292205:T728A	T	-	1	0	ADAR	152836249	0.001000	0.12720	0.000000	0.03702	0.428000	0.31595	0.036000	0.13819	-0.609000	0.05724	0.533000	0.62120	ACC		0.522	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		6	326	0	0	0	0.00198382	0	6	326				
C9orf72	203228	broad.mit.edu	37	9	27567059	27567059	+	Missense_Mutation	SNP	A	A	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr9:27567059A>T	ENST00000380003.3	-	2	123	c.60T>A	c.(58-60)agT>agA	p.S20R	C9orf72_ENST00000379997.3_Missense_Mutation_p.S20R|C9orf72_ENST00000488117.1_5'UTR	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	20					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular space (GO:0005615)|lysosome (GO:0005764)|nucleus (GO:0005634)	Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		GTGATTTGCCACTTAAAGCAA	0.458																																						ENST00000380003.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23						c.(58-60)agT>agA		chromosome 9 open reading frame 72							81.0	76.0	78.0					9																	27567059		2203	4300	6503	SO:0001583	missense	203228							g.chr9:27567059A>T	AL832467	CCDS6522.1, CCDS6523.1	9p21.1	2014-09-17			ENSG00000147894	ENSG00000147894			28337	protein-coding gene	gene with protein product		614260				21944778, 24549040	Standard	NM_145005		Approved	MGC23980	uc003zqq.3	Q96LT7	OTTHUMG00000019716	ENST00000380003.3:c.60T>A	9.37:g.27567059A>T	ENSP00000369339:p.Ser20Arg					C9orf72_ENST00000379997.3_Missense_Mutation_p.S20R|C9orf72_ENST00000488117.1_5'UTR	p.S20R	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)	2	123	-		all_neural(11;7.57e-10)	20					A8K5W0|D3DRK6|G8I0B6|Q6NUS9	Missense_Mutation	SNP	ENST00000380003.3	37	c.60T>A	CCDS6522.1	.	.	.	.	.	.	.	.	.	.	A	13.46	2.242614	0.39598	.	.	ENSG00000147894	ENST00000380003;ENST00000379997;ENST00000379995	T;T;T	0.44083	0.93;0.93;0.93	5.99	5.99	0.97316	.	0.225686	0.53938	D	0.000046	T	0.22859	0.0552	N	0.08118	0	0.33621	D	0.604779	B;B	0.16603	0.018;0.011	B;B	0.18871	0.023;0.003	T	0.32587	-0.9901	9	.	.	.	.	11.5134	0.50507	0.931:0.0:0.069:0.0	.	20;20	Q96LT7-2;Q96LT7	.;CI072_HUMAN	R	20	ENSP00000369339:S20R;ENSP00000369333:S20R;ENSP00000369331:S20R	.	S	-	3	2	C9orf72	27557059	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.511000	0.35801	2.291000	0.77112	0.533000	0.62120	AGT		0.458	C9orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051969.1	NM_018325		5	300	0	0	0	0.000602214	0	5	300				
LPHN1	22859	broad.mit.edu	37	19	14262129	14262129	+	Silent	SNP	A	A	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:14262129A>C	ENST00000340736.6	-	24	4278	c.3981T>G	c.(3979-3981)ggT>ggG	p.G1327G	CTB-55O6.12_ENST00000588658.1_RNA|LPHN1_ENST00000361434.3_Silent_p.G1322G|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1327					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCCGGTCAGCACCCCCGGGCC	0.716																																						ENST00000340736.6																			0				central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(3979-3981)ggT>ggG		latrophilin 1							5.0	6.0	6.0					19																	14262129		2111	4119	6230	SO:0001819	synonymous_variant	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14262129A>C	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.3981T>G	19.37:g.14262129A>C						CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Silent_p.G1322G|CTB-55O6.12_ENST00000588658.1_RNA	p.G1327G	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN			24	4278	-			1327					Q96IE7|Q9BU07|Q9HAR3	Silent	SNP	ENST00000340736.6	37	c.3981T>G	CCDS32928.1																																																																																				0.716	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		14	43	0	0	0	0.00188189	0	14	43				
INSRR	3645	broad.mit.edu	37	1	156824033	156824033	+	Missense_Mutation	SNP	C	C	T	rs558428940		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:156824033C>T	ENST00000368195.3	-	2	544	c.148G>A	c.(148-150)Gtg>Atg	p.V50M	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	50					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCTCCACCACGCTGCAGTTC	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		20162	0.0		0.0	False		,,,				2504	0.001					ENST00000368195.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(148-150)Gtg>Atg		insulin receptor-related receptor							49.0	50.0	49.0					1																	156824033		2203	4300	6503	SO:0001583	missense	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156824033C>T	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.148G>A	1.37:g.156824033C>T	ENSP00000357178:p.Val50Met					NTRK1_ENST00000392302.2_Intron	p.V50M	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN			2	544	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		50					O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.148G>A	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.450024	0.63290	.	.	ENSG00000027644	ENST00000368195	D	0.82081	-1.57	5.06	4.15	0.48705	EGF receptor, L domain (1);	0.000000	0.41294	D	0.000916	D	0.87939	0.6304	.	.	.	0.48341	D	0.999632	D	0.89917	1.0	D	0.81914	0.995	D	0.89318	0.3638	9	0.72032	D	0.01	.	11.4951	0.50404	0.0:0.9113:0.0:0.0887	.	50	P14616	INSRR_HUMAN	M	50	ENSP00000357178:V50M	ENSP00000357178:V50M	V	-	1	0	INSRR	155090657	0.646000	0.27295	0.893000	0.35052	0.832000	0.47134	1.287000	0.33284	1.146000	0.42352	-0.252000	0.11476	GTG		0.627	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		69	110	0	0	0	0.000781405	0	69	110				
UBB	7314	broad.mit.edu	37	17	16285560	16285560	+	Silent	SNP	T	T	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:16285560T>C	ENST00000395837.1	+	2	520	c.339T>C	c.(337-339)ccT>ccC	p.P113P	UBB_ENST00000578649.1_Intron|UBB_ENST00000395839.1_Silent_p.P113P|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000302182.3_Silent_p.P113P|UBB_ENST00000535788.1_Intron	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	113	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCTCCCGACCAGC	0.557																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(337-339)ccT>ccC		ubiquitin B							115.0	112.0	113.0					17																	16285560		2203	4300	6503	SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285560T>C		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"""polyubiquitin B"""	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.339T>C	17.37:g.16285560T>C						UBB_ENST00000395839.1_Silent_p.P113P|UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron|UBB_ENST00000395837.1_Silent_p.P113P|RP11-138I1.4_ENST00000583934.1_RNA	p.P113P	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	731	+			113			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.339T>C	CCDS11177.1																																																																																				0.557	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		5	293	0	0	0	0.00116845	0	5	293				
ABCA3	21	broad.mit.edu	37	16	2347398	2347398	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr16:2347398C>T	ENST00000301732.5	-	17	2895	c.2195G>A	c.(2194-2196)cGc>cAc	p.R732H	ABCA3_ENST00000382381.3_Missense_Mutation_p.R674H	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	732	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	GATGGCGATGCGGTCTCCCAG	0.632																																						ENST00000301732.5																			0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(2194-2196)cGc>cAc		ATP-binding cassette, sub-family A (ABC1), member 3							142.0	104.0	117.0					16																	2347398		2198	4300	6498	SO:0001583	missense	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2347398C>T	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.2195G>A	16.37:g.2347398C>T	ENSP00000301732:p.Arg732His					ABCA3_ENST00000382381.3_Missense_Mutation_p.R674H	p.R732H	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			17	2895	-		Ovarian(90;0.17)	732			ABC transporter 1.		B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	c.2195G>A	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	C	35	5.497450	0.96355	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	T	0.79247	-1.25	6.17	6.17	0.99709	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.88276	0.6393	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;1.0	D	0.88026	0.2772	10	0.87932	D	0	.	19.4575	0.94900	0.0:1.0:0.0:0.0	.	732;736;732	A7MBM9;Q4LE27;Q99758	.;.;ABCA3_HUMAN	H	732;736	ENSP00000301732:R732H	ENSP00000301732:R732H	R	-	2	0	ABCA3	2287399	1.000000	0.71417	1.000000	0.80357	0.654000	0.38779	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CGC		0.632	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		5	327	0	0	0	0.000602214	0	5	327				
CNN2	1265	broad.mit.edu	37	19	1037794	1037794	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:1037794G>A	ENST00000263097.4	+	7	1188	c.825G>A	c.(823-825)ccG>ccA	p.P275P	AC011558.5_ENST00000585757.1_RNA|CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000565096.2_Silent_p.P264P|CNN2_ENST00000562958.2_Silent_p.P296P|CNN2_ENST00000348419.3_Silent_p.P236P|ABCA7_ENST00000263094.6_5'Flank	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	275					actomyosin structure organization (GO:0031032)|cellular response to mechanical stimulus (GO:0071260)|cytoskeleton organization (GO:0007010)|hemopoiesis (GO:0030097)|negative regulation of cell migration (GO:0030336)|negative regulation of phagocytosis (GO:0050765)|positive regulation of gene expression (GO:0010628)|regulation of actin filament-based process (GO:0032970)|regulation of cell proliferation (GO:0042127)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|stress fiber (GO:0001725)	actin binding (GO:0003779)			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTACTGCCCGCAAGGCACAG	0.672																																						ENST00000263097.4																			0				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10						c.(823-825)ccG>ccA		calponin 2							52.0	63.0	59.0					19																	1037794		2199	4289	6488	SO:0001819	synonymous_variant	1265				actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding	g.chr19:1037794G>A	D83735	CCDS12053.1, CCDS12054.1	19p13.3	2011-02-18			ENSG00000064666	ENSG00000064666			2156	protein-coding gene	gene with protein product		602373				8889829	Standard	NM_004368		Approved		uc002lqu.3	Q99439		ENST00000263097.4:c.825G>A	19.37:g.1037794G>A						CNN2_ENST00000348419.3_Silent_p.P236P|CNN2_ENST00000562958.2_Silent_p.P296P|CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000565096.2_Silent_p.P264P	p.P275P	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1188	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	275					A5D8U8|A6NFI4|D6W5X9|Q92578	Silent	SNP	ENST00000263097.4	37	c.825G>A	CCDS12053.1																																																																																				0.672	CNN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420293.3	NM_004368		6	451	0	0	0	0.00116845	0	6	451				
FGF13	2258	broad.mit.edu	37	X	137793125	137793125	+	Missense_Mutation	SNP	C	C	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:137793125C>G	ENST00000315930.6	-	1	702	c.41G>C	c.(40-42)aGg>aCg	p.R14T	FGF13_ENST00000370603.3_Intron|FGF13_ENST00000441825.2_Intron|FGF13_ENST00000305414.4_Intron|FGF13-AS1_ENST00000446383.1_RNA|FGF13_ENST00000541469.1_Intron|FGF13-AS1_ENST00000438238.1_RNA	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	14	Mediates targeting to the nucleus. {ECO:0000250}.				cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					GCGGGCTTGCCTCTTCTGACG	0.597																																						ENST00000315930.6																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24						c.(40-42)aGg>aCg		fibroblast growth factor 13							84.0	80.0	82.0					X																	137793125		2203	4300	6503	SO:0001583	missense	2258				cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity	g.chrX:137793125C>G	BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"""fibroblast growth factor homologous factor 2"""	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000315930.6:c.41G>C	X.37:g.137793125C>G	ENSP00000322390:p.Arg14Thr					FGF13_ENST00000441825.2_Intron|FGF13_ENST00000370603.3_Intron|FGF13_ENST00000305414.4_Intron|FGF13_ENST00000541469.1_Intron	p.R14T	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN			1	702	-	Acute lymphoblastic leukemia(192;0.000127)		14					B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Missense_Mutation	SNP	ENST00000315930.6	37	c.41G>C	CCDS14665.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.473036	0.84640	.	.	ENSG00000129682	ENST00000315930	D	0.84944	-1.92	4.29	4.29	0.51040	.	.	.	.	.	D	0.86464	0.5939	L	0.60455	1.87	0.80722	D	1	P	0.46277	0.875	P	0.48524	0.58	D	0.88447	0.3046	9	0.72032	D	0.01	.	15.3424	0.74309	0.0:1.0:0.0:0.0	.	14	Q92913	FGF13_HUMAN	T	14	ENSP00000322390:R14T	ENSP00000322390:R14T	R	-	2	0	FGF13	137620791	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.318000	0.79029	1.889000	0.54706	0.529000	0.55759	AGG		0.597	FGF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058534.2	NM_004114		13	446	0	0	0	0.000422831	0	13	446				
COL11A1	1301	broad.mit.edu	37	1	103427802	103427802	+	Missense_Mutation	SNP	C	C	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:103427802C>G	ENST00000370096.3	-	40	3356	c.3044G>C	c.(3043-3045)gGt>gCt	p.G1015A	COL11A1_ENST00000512756.1_Missense_Mutation_p.G899A|COL11A1_ENST00000358392.2_Missense_Mutation_p.G1027A|COL11A1_ENST00000353414.4_Missense_Mutation_p.G976A	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1015	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCCTGAGATACCTTGAGGACC	0.383																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(3079-3081)gGt>gCt		collagen, type XI, alpha 1							85.0	87.0	87.0					1																	103427802		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103427802C>G	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3044G>C	1.37:g.103427802C>G	ENSP00000359114:p.Gly1015Ala					COL11A1_ENST00000353414.4_Missense_Mutation_p.G976A|COL11A1_ENST00000512756.1_Missense_Mutation_p.G899A|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1015A	p.G1027A	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	40	3397	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1015		G -> R (in STL2).	Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.3080G>C	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822094	0.71028	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.99607	-6.27;-6.27;-6.27;-6.27	5.37	5.37	0.77165	.	0.061018	0.64402	D	0.000003	D	0.99753	0.9901	M	0.92880	3.355	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.87578	0.997;0.998;0.998;0.995;0.994	D	0.97603	1.0124	10	0.59425	D	0.04	.	19.1062	0.93296	0.0:1.0:0.0:0.0	.	899;976;1027;1015;235	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	A	1015;1027;976;235;899	ENSP00000359114:G1015A;ENSP00000351163:G1027A;ENSP00000302551:G976A;ENSP00000426533:G899A	ENSP00000302551:G976A	G	-	2	0	COL11A1	103200390	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.404000	0.79996	2.509000	0.84616	0.557000	0.71058	GGT		0.383	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		98	225	0	0	0	0.000781405	0	98	225				
LRRFIP2	9209	broad.mit.edu	37	3	37154441	37154441	+	Missense_Mutation	SNP	T	T	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:37154441T>C	ENST00000336686.4	-	8	483	c.403A>G	c.(403-405)Aag>Gag	p.K135E	LRRFIP2_ENST00000421276.2_Intron|LRRFIP2_ENST00000421307.1_Missense_Mutation_p.K135E|LRRFIP2_ENST00000396428.2_Missense_Mutation_p.K104E|LRRFIP2_ENST00000354379.4_Intron|LRRFIP2_ENST00000440230.1_Intron			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	135	DVL3-binding.|Ser-rich.				Wnt signaling pathway (GO:0016055)		LRR domain binding (GO:0030275)	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GACCTCTTCTTCATTCCATGA	0.328																																						ENST00000421307.1																			1	Whole gene deletion(1)	p.0?(1)	ovary(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(403-405)Aag>Gag		leucine rich repeat (in FLII) interacting protein 2							123.0	126.0	125.0					3																	37154441		2203	4300	6503	SO:0001583	missense	9209				Wnt receptor signaling pathway		LRR domain binding	g.chr3:37154441T>C	AF115509	CCDS2664.1, CCDS2665.1, CCDS46791.1, CCDS63592.1	3p22.1	2008-07-18			ENSG00000093167	ENSG00000093167			6703	protein-coding gene	gene with protein product		614043				10366446	Standard	NM_017724		Approved	HUFI-2	uc003cgp.2	Q9Y608	OTTHUMG00000130796	ENST00000336686.4:c.403A>G	3.37:g.37154441T>C	ENSP00000338727:p.Lys135Glu					LRRFIP2_ENST00000396428.2_Missense_Mutation_p.K104E|LRRFIP2_ENST00000336686.4_Missense_Mutation_p.K135E|LRRFIP2_ENST00000354379.4_Intron|LRRFIP2_ENST00000421276.2_Intron|LRRFIP2_ENST00000440230.1_Intron	p.K135E	NM_006309.2	NP_006300.1	Q9Y608	LRRF2_HUMAN			9	825	-			135			DVL3-binding.|Ser-rich.		A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Missense_Mutation	SNP	ENST00000336686.4	37	c.403A>G	CCDS2664.1	.	.	.	.	.	.	.	.	.	.	T	15.62	2.886492	0.51908	.	.	ENSG00000093167	ENST00000421307;ENST00000336686;ENST00000396428	T;T;T	0.46063	0.88;0.88;1.21	5.31	5.31	0.75309	.	0.394787	0.25872	N	0.027745	T	0.30355	0.0762	N	0.14661	0.345	0.32566	N	0.530498	P;P	0.45348	0.762;0.856	B;B	0.42738	0.303;0.396	T	0.40794	-0.9544	10	0.40728	T	0.16	-25.7202	14.3757	0.66874	0.0:0.0:0.0:1.0	.	104;135	A8MXR0;Q9Y608	.;LRRF2_HUMAN	E	135;135;104	ENSP00000392217:K135E;ENSP00000338727:K135E;ENSP00000379705:K104E	ENSP00000338727:K135E	K	-	1	0	LRRFIP2	37129445	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	5.517000	0.67061	2.145000	0.66743	0.482000	0.46254	AAG		0.328	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253335.3	NM_006309		202	534	0	0	0	0.000781405	0	202	534				
BMP1	649	broad.mit.edu	37	8	22054897	22054897	+	Missense_Mutation	SNP	G	G	A	rs200401797		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:22054897G>A	ENST00000306385.5	+	15	2741	c.2071G>A	c.(2071-2073)Gtg>Atg	p.V691M	BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000306349.8_Missense_Mutation_p.V691M|BMP1_ENST00000397816.3_Missense_Mutation_p.V691M	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	691	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CGACAACACCGTGTCCAAAAA	0.567																																						ENST00000306385.5																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(2071-2073)Gtg>Atg		bone morphogenetic protein 1		G	MET/VAL,MET/VAL	0,4406		0,0,2203	236.0	214.0	222.0		2071,2071	5.3	1.0	8		222	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	BMP1	NM_001199.3,NM_006129.4	21,21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	691/731,691/987	22054897	1,13005	2203	4300	6503	SO:0001583	missense	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22054897G>A		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2071G>A	8.37:g.22054897G>A	ENSP00000305714:p.Val691Met					BMP1_ENST00000397816.3_Missense_Mutation_p.V691M|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000306349.8_Missense_Mutation_p.V691M	p.V691M	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	15	2741	+			691			CUB 3.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.2071G>A	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.895680	0.91962	0.0	1.16E-4	ENSG00000168487	ENST00000306385;ENST00000397816;ENST00000306349	T;T;T	0.30981	1.51;1.51;1.51	5.29	5.29	0.74685	CUB (5);	0.000000	0.34853	U	0.003625	T	0.58836	0.2150	M	0.79343	2.45	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.993	T	0.63346	-0.6658	10	0.72032	D	0.01	.	17.6986	0.88289	0.0:0.0:1.0:0.0	.	691;764;691;691	P13497;Q59F71;P13497-2;P13497-6	BMP1_HUMAN;.;.;.	M	691	ENSP00000305714:V691M;ENSP00000380917:V691M;ENSP00000306121:V691M	ENSP00000306121:V691M	V	+	1	0	BMP1	22110842	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.869000	0.99810	2.451000	0.82905	0.563000	0.77884	GTG		0.567	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		22	673	0	0	0	0.00047179	0	22	673				
ABCA13	154664	broad.mit.edu	37	7	48317894	48317894	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:48317894C>T	ENST00000435803.1	+	18	7127	c.7103C>T	c.(7102-7104)gCc>gTc	p.A2368V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2368					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTATTTAATGCCCTTCTCAGG	0.308																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(7102-7104)gCc>gTc		ATP-binding cassette, sub-family A (ABC1), member 13							40.0	40.0	40.0					7																	48317894		1803	4069	5872	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48317894C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.7103C>T	7.37:g.48317894C>T	ENSP00000411096:p.Ala2368Val						p.A2368V	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			18	7127	+			2368					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.7103C>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	4.546	0.101394	0.08731	.	.	ENSG00000179869	ENST00000435803	T	0.55760	0.5	4.75	1.32	0.21799	.	1.533400	0.04221	N	0.333578	T	0.38480	0.1042	L	0.28274	0.84	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.34675	-0.9819	10	0.72032	D	0.01	.	2.659	0.05020	0.2212:0.501:0.0:0.2778	.	2368	Q86UQ4	ABCAD_HUMAN	V	2368	ENSP00000411096:A2368V	ENSP00000411096:A2368V	A	+	2	0	ABCA13	48288440	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.498000	0.06420	0.517000	0.28361	0.561000	0.74099	GCC		0.308	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		28	154	0	0	0	0.00106085	0	28	154				
TRIM67	440730	broad.mit.edu	37	1	231339749	231339749	+	Silent	SNP	A	A	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:231339749A>G	ENST00000366653.5	+	6	1671	c.1671A>G	c.(1669-1671)ggA>ggG	p.G557G	TRIM67_ENST00000444294.3_Silent_p.G555G|TRIM67_ENST00000449018.3_Silent_p.G495G|TRIM67_ENST00000366652.2_Silent_p.G557G			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	557	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GTGCCGGGGGACAGTTCCGGG	0.637																																						ENST00000444294.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1663-1665)ggA>ggG		tripartite motif containing 67							54.0	69.0	64.0					1																	231339749		2035	4177	6212	SO:0001819	synonymous_variant	440730					cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231339749A>G	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1671A>G	1.37:g.231339749A>G						TRIM67_ENST00000366652.2_Silent_p.G557G|TRIM67_ENST00000449018.3_Silent_p.G495G|TRIM67_ENST00000366653.5_Silent_p.G557G	p.G555G	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN			6	2523	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	557			Fibronectin type-III.		Q5TER7|Q5TER8|Q7Z4K7	Silent	SNP	ENST00000366653.5	37	c.1665A>G	CCDS44333.1																																																																																				0.637	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		37	198	0	0	0	0.000814825	0	37	198				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		96	237	1	0	3.10586e-51	0.000781405	1.61719e-50	96	237				
NCOA6	23054	broad.mit.edu	37	20	33337236	33337236	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr20:33337236C>A	ENST00000374796.2	-	10	5332	c.2762G>T	c.(2761-2763)cGg>cTg	p.R921L	NCOA6_ENST00000359003.2_Missense_Mutation_p.R921L			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	921	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TTTCTTCTTCCGAGGGGGTTT	0.358																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(2761-2763)cGg>cTg		nuclear receptor coactivator 6							96.0	95.0	95.0					20																	33337236		2203	4300	6503	SO:0001583	missense	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33337236C>A	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.2762G>T	20.37:g.33337236C>A	ENSP00000363929:p.Arg921Leu					NCOA6_ENST00000359003.2_Missense_Mutation_p.R921L	p.R921L			Q14686	NCOA6_HUMAN			10	5332	-			921			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	c.2762G>T	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.248337	0.80024	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.37584	1.19;1.19	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000008	T	0.51805	0.1696	L	0.32530	0.975	0.58432	D	0.999995	D	0.89917	1.0	D	0.85130	0.997	T	0.47824	-0.9087	10	0.45353	T	0.12	-13.717	19.464	0.94931	0.0:1.0:0.0:0.0	.	921	Q14686	NCOA6_HUMAN	L	921	ENSP00000363929:R921L;ENSP00000351894:R921L	ENSP00000351894:R921L	R	-	2	0	NCOA6	32800897	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.089000	0.71384	2.584000	0.87258	0.655000	0.94253	CGG		0.358	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		7	885	1	0	2.17888e-05	0.000442599	9.97001e-05	7	885				
LARP4	113251	broad.mit.edu	37	12	50847262	50847262	+	Missense_Mutation	SNP	A	A	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:50847262A>G	ENST00000398473.2	+	9	936	c.824A>G	c.(823-825)aAt>aGt	p.N275S	LARP4_ENST00000347328.5_Intron|LARP4_ENST00000429001.3_Missense_Mutation_p.N281S|LARP4_ENST00000293618.8_Missense_Mutation_p.N275S|LARP4_ENST00000522085.1_Missense_Mutation_p.N275S|LARP4_ENST00000518444.1_Missense_Mutation_p.N274S|LARP4_ENST00000518561.1_Missense_Mutation_p.N205S	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	275	RRM.				cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						AAAGCCATCAATACATTTTTT	0.308																																						ENST00000398473.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						c.(823-825)aAt>aGt		La ribonucleoprotein domain family, member 4							109.0	96.0	100.0					12																	50847262		1848	4091	5939	SO:0001583	missense	113251						nucleotide binding|RNA binding	g.chr12:50847262A>G	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"""La ribonucleoprotein domain containing"""	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.824A>G	12.37:g.50847262A>G	ENSP00000381490:p.Asn275Ser					LARP4_ENST00000518444.1_Missense_Mutation_p.N274S|LARP4_ENST00000522085.1_Missense_Mutation_p.N275S|LARP4_ENST00000429001.3_Missense_Mutation_p.N281S|LARP4_ENST00000293618.8_Missense_Mutation_p.N275S|LARP4_ENST00000518561.1_Missense_Mutation_p.N205S|LARP4_ENST00000347328.5_Intron	p.N275S	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN			9	936	+			275			RRM.		A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Missense_Mutation	SNP	ENST00000398473.2	37	c.824A>G	CCDS41782.1	.	.	.	.	.	.	.	.	.	.	A	19.98	3.926632	0.73327	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000398473;ENST00000522085;ENST00000398464;ENST00000518444;ENST00000518561;ENST00000520064	T;T;T;T;T;T	0.57595	1.24;0.94;0.92;0.39;0.89;0.5	3.89	3.89	0.44902	.	0.000000	0.85682	D	0.000000	T	0.70037	0.3178	M	0.74258	2.255	0.80722	D	1	D;D;D;D;P	0.69078	0.997;0.957;0.996;0.995;0.553	D;D;D;D;P	0.77557	0.985;0.914;0.99;0.956;0.627	T	0.72899	-0.4152	10	0.49607	T	0.09	.	13.3994	0.60874	1.0:0.0:0.0:0.0	.	176;274;275;275;281	Q71RC2-2;Q71RC2-3;G3XAA8;Q71RC2;Q71RC2-4	.;.;.;LARP4_HUMAN;.	S	275;281;275;275;275;274;205;176	ENSP00000293618:N275S;ENSP00000415464:N281S;ENSP00000381490:N275S;ENSP00000429781:N275S;ENSP00000429077:N274S;ENSP00000430851:N205S	ENSP00000293618:N275S	N	+	2	0	LARP4	49133529	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.707000	0.91367	1.724000	0.51502	0.260000	0.18958	AAT		0.308	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879		93	214	0	0	0	0.000781405	0	93	214				
TTN	7273	broad.mit.edu	37	2	179434141	179434141	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:179434141C>A	ENST00000591111.1	-	276	72019	c.71795G>T	c.(71794-71796)cGa>cTa	p.R23932L	TTN_ENST00000342992.6_Missense_Mutation_p.R23005L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16633L|TTN_ENST00000460472.2_Missense_Mutation_p.R16508L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R25573L|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R16700L|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23932	Ig-like 120.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTATCATATCGGTTGACATT	0.423																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(76717-76719)cGa>cTa		titin							94.0	87.0	90.0					2																	179434141		1906	4114	6020	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179434141C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.71795G>T	2.37:g.179434141C>A	ENSP00000465570:p.Arg23932Leu					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R23932L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16633L|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R23005L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R16508L|TTN_ENST00000342175.6_Missense_Mutation_p.R16700L|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA	p.R25573L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	76942	-			23932			Fibronectin type-III 86.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.76718G>T		.	.	.	.	.	.	.	.	.	.	C	14.92	2.679673	0.47886	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.71	5.71	0.89125	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65913	0.2737	M	0.68593	2.085	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.67114	-0.5752	9	0.87932	D	0	.	19.8644	0.96799	0.0:1.0:0.0:0.0	.	16508;16633;16700;23932	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	23005;16508;16700;16633;16506	ENSP00000343764:R23005L;ENSP00000434586:R16508L;ENSP00000340554:R16700L;ENSP00000352154:R16633L	ENSP00000340554:R16700L	R	-	2	0	TTN	179142387	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.691000	0.91804	0.655000	0.94253	CGA		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	347	1	0	0.000602214	0.000602214	0.0025667	5	347				
TTN	7273	broad.mit.edu	37	2	179440550	179440550	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:179440550C>T	ENST00000591111.1	-	276	65610	c.65386G>A	c.(65386-65388)Ggc>Agc	p.G21796S	TTN_ENST00000342992.6_Missense_Mutation_p.G20869S|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G14497S|TTN_ENST00000460472.2_Missense_Mutation_p.G14372S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G23437S|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G14564S|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21796				PGPVLN -> ARPSPQ (in Ref. 13; CAA45939). {ECO:0000305}.	adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.G14372C(1)|p.G20867C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGACTGGGCCTGGCGTGTCC	0.493																																						ENST00000589042.1																			2	Substitution - Missense(2)	p.G14372C(1)|p.G20867C(1)	ovary(2)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(70309-70311)Ggc>Agc		titin							94.0	101.0	98.0					2																	179440550		2103	4242	6345	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179440550C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.65386G>A	2.37:g.179440550C>T	ENSP00000465570:p.Gly21796Ser					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G21796S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G14497S|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G20869S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G14372S|TTN_ENST00000342175.6_Missense_Mutation_p.G14564S|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA	p.G23437S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	70533	-			21796			Fibronectin type-III 70.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.70309G>A		.	.	.	.	.	.	.	.	.	.	C	16.49	3.138080	0.56936	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.67	5.67	0.87782	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70298	0.3208	M	0.72479	2.2	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.72124	-0.4385	9	0.87932	D	0	.	19.7429	0.96238	0.0:1.0:0.0:0.0	.	14372;14497;14564;21796	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	20869;14372;14564;14497;14370	ENSP00000343764:G20869S;ENSP00000434586:G14372S;ENSP00000340554:G14564S;ENSP00000352154:G14497S	ENSP00000340554:G14564S	G	-	1	0	TTN	179148796	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.685000	0.91497	0.655000	0.94253	GGC		0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		31	570	0	0	0	0.0024448	0	31	570				
CADM1	23705	broad.mit.edu	37	11	115080343	115080343	+	Silent	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:115080343G>T	ENST00000452722.3	-	8	1049	c.1029C>A	c.(1027-1029)acC>acA	p.T343T	CADM1_ENST00000542447.2_Intron|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000537058.1_Silent_p.T343T	NM_014333.3	NP_055148.3			cell adhesion molecule 1									p.T343T(5)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tggtggtggtggttgttgtgg	0.433																																						ENST00000537058.1																			5	Substitution - coding silent(5)	p.T343T(5)	kidney(3)|lung(2)	cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(1027-1029)acC>acA		cell adhesion molecule 1							45.0	50.0	49.0					11																	115080343		2201	4296	6497	SO:0001819	synonymous_variant	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115080343G>T	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1029C>A	11.37:g.115080343G>T						CADM1_ENST00000542447.2_Intron|CADM1_ENST00000452722.2_Silent_p.T343T|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000537140.1_Intron	p.T343T			Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	8	1049	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	343	PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).					Silent	SNP	ENST00000452722.3	37	c.1029C>A	CCDS8373.1																																																																																				0.433	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		8	317	1	0	7.48243e-07	0.000442599	3.61138e-06	8	317				
TENM2	57451	broad.mit.edu	37	5	167626955	167626955	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:167626955G>A	ENST00000518659.1	+	17	3288	c.3249G>A	c.(3247-3249)ctG>ctA	p.L1083L	TENM2_ENST00000545108.1_Silent_p.L1083L|TENM2_ENST00000520394.1_Silent_p.L851L|TENM2_ENST00000519204.1_Silent_p.L962L|TENM2_ENST00000403607.2_Silent_p.L907L	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1083					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										AGTCACTGCTGAAGATCACCA	0.507																																						ENST00000519204.1																			0											c.(2884-2886)ctG>ctA		teneurin transmembrane protein 2							127.0	127.0	127.0					5																	167626955		1970	4177	6147	SO:0001819	synonymous_variant	57451							g.chr5:167626955G>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.3249G>A	5.37:g.167626955G>A						TENM2_ENST00000520394.1_Silent_p.L851L|TENM2_ENST00000545108.1_Silent_p.L1083L|TENM2_ENST00000518659.1_Silent_p.L1083L|TENM2_ENST00000403607.2_Silent_p.L907L	p.L962L							16	3004	+								Q9ULU2	Silent	SNP	ENST00000518659.1	37	c.2886G>A																																																																																					0.507	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		7	403	0	0	0	0.00198382	0	7	403				
AHNAK	79026	broad.mit.edu	37	11	62297983	62297983	+	Silent	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:62297983C>A	ENST00000378024.4	-	5	4180	c.3906G>T	c.(3904-3906)ccG>ccT	p.P1302P	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1302					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCTTTCCTTCCGGGCCCTCAA	0.547																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(3904-3906)ccG>ccT		AHNAK nucleoprotein							135.0	145.0	142.0					11																	62297983		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62297983C>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.3906G>T	11.37:g.62297983C>A						AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.P1302P	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	4180	-		Melanoma(852;0.155)	1302					A1A586	Silent	SNP	ENST00000378024.4	37	c.3906G>T	CCDS31584.1																																																																																				0.547	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		7	947	1	0	0.00198382	0.00198382	0.00809612	7	947				
COL4A1	1282	broad.mit.edu	37	13	110857736	110857736	+	Silent	SNP	G	G	A	rs138809869		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr13:110857736G>A	ENST00000375820.4	-	17	1042	c.921C>T	c.(919-921)ccC>ccT	p.P307P	COL4A1_ENST00000543140.1_Silent_p.P307P	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	307	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CTGGGTACCCGGGTTCACCAG	0.512																																						ENST00000375820.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(919-921)ccC>ccT		collagen, type IV, alpha 1		G		0,4406		0,0,2203	91.0	103.0	99.0		921	-10.1	0.0	13	dbSNP_134	99	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	COL4A1	NM_001845.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		307/1670	110857736	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110857736G>A	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.921C>T	13.37:g.110857736G>A						COL4A1_ENST00000543140.1_Silent_p.P307P	p.P307P	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		17	1042	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	307			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Silent	SNP	ENST00000375820.4	37	c.921C>T	CCDS9511.1																																																																																				0.512	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			96	314	0	0	0	0.000781405	0	96	314				
MAGEC1	9947	broad.mit.edu	37	X	140994915	140994915	+	Silent	SNP	G	G	A	rs111773662	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:140994915G>A	ENST00000285879.4	+	4	2011	c.1725G>A	c.(1723-1725)ctG>ctA	p.L575L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	575										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACTCCCTGTCTCCTCACT	0.597										HNSCC(15;0.026)			G|||	2	0.000529801	0.0008	0.0	3775	,	,		12697	0.0		0.001	False		,,,				2504	0.0					ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1723-1725)ctG>ctA		melanoma antigen family C, 1		G		3,3832		0,3,1629,571	239.0	257.0	251.0		1725	-0.3	0.0	X	dbSNP_132	251	0,6728		0,0,2428,1872	no	coding-synonymous	MAGEC1	NM_005462.4		0,3,4057,2443	AA,AG,GG,G		0.0,0.0782,0.0284		575/1143	140994915	3,10560	2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140994915G>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1725G>A	X.37:g.140994915G>A		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.L575L	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2011	+	Acute lymphoblastic leukemia(192;6.56e-05)		575					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.1725G>A	CCDS35417.1																																																																																				0.597	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		12	1527	0	0	0	0.000157383	0	12	1527				
VRK1	7443	broad.mit.edu	37	14	97319216	97319216	+	Missense_Mutation	SNP	A	A	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr14:97319216A>G	ENST00000216639.3	+	6	572	c.423A>G	c.(421-423)atA>atG	p.I141M		NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN	vaccinia related kinase 1	141	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Golgi disassembly (GO:0090166)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-T3 phosphorylation (GO:0072355)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi stack (GO:0005795)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H3-S10 specific) (GO:0035175)|histone kinase activity (H3-T3 specific) (GO:0072354)|nucleosomal histone binding (GO:0031493)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		TTCAGAAAATATATGAAGCAA	0.328																																						ENST00000216639.3																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12						c.(421-423)atA>atG		vaccinia related kinase 1							90.0	88.0	89.0					14																	97319216		2203	4300	6503	SO:0001583	missense	7443					cytoplasm|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr14:97319216A>G	AB000449	CCDS9947.1	14q32.2	2012-07-05			ENSG00000100749	ENSG00000100749			12718	protein-coding gene	gene with protein product		602168				9344656	Standard	XM_006720247		Approved		uc001yft.3	Q99986	OTTHUMG00000171459	ENST00000216639.3:c.423A>G	14.37:g.97319216A>G	ENSP00000216639:p.Ile141Met						p.I141M	NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN		COAD - Colon adenocarcinoma(157;0.234)	6	572	+		Melanoma(154;0.155)	141			Protein kinase.		Q3SYL2	Missense_Mutation	SNP	ENST00000216639.3	37	c.423A>G	CCDS9947.1	.	.	.	.	.	.	.	.	.	.	A	13.20	2.165260	0.38217	.	.	ENSG00000100749	ENST00000216639	T	0.21191	2.02	5.76	3.01	0.34805	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.418609	0.30446	N	0.009607	T	0.18509	0.0444	M	0.65498	2.005	0.41806	D	0.989943	P	0.44734	0.842	B	0.39876	0.312	T	0.07462	-1.0771	10	0.72032	D	0.01	-21.5458	1.8397	0.03147	0.4436:0.3034:0.106:0.1471	.	141	Q99986	VRK1_HUMAN	M	141	ENSP00000216639:I141M	ENSP00000216639:I141M	I	+	3	3	VRK1	96388969	0.957000	0.32711	1.000000	0.80357	0.997000	0.91878	0.138000	0.16016	0.978000	0.38470	0.482000	0.46254	ATA		0.328	VRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413520.1	NM_003384		24	316	0	0	0	0.000720815	0	24	316				
DNAAF3	352909	broad.mit.edu	37	19	55676757	55676757	+	Silent	SNP	C	C	T	rs371199276		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:55676757C>T	ENST00000524407.2	-	4	336	c.303G>A	c.(301-303)ccG>ccA	p.P101P	DNAAF3_ENST00000391720.4_Silent_p.P148P|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000527223.2_Silent_p.P169P|DNAAF3_ENST00000455045.1_Silent_p.P47P|snoU13_ENST00000459370.1_RNA			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3	101					axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)											CCATCTTCTCCGGTTCCTCCA	0.532																																						ENST00000527223.2																			0											c.(505-507)ccG>ccA		dynein, axonemal, assembly factor 3		C		0,3930		0,0,1965	66.0	71.0	70.0		444	-8.2	0.1	19		70	1,8307		0,1,4153	no	coding-synonymous	C19orf51	NM_178837.3		0,1,6118	TT,TC,CC		0.012,0.0,0.0082		148/589	55676757	1,12237	1965	4154	6119	SO:0001819	synonymous_variant	352909							g.chr19:55676757C>T	AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646			30492	protein-coding gene	gene with protein product		614566	"""chromosome 19 open reading frame 51"", ""ciliary dyskinesia, primary 2"""	C19orf51, CILD2		22387996	Standard	NM_001256714		Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000524407.2:c.303G>A	19.37:g.55676757C>T						DNAAF3_ENST00000524407.2_Silent_p.P101P|DNAAF3_ENST00000455045.1_Silent_p.P47P|DNAAF3_ENST00000391720.4_Silent_p.P148P|CTD-2587H24.5_ENST00000591665.1_RNA	p.P169P	NM_001256714.1	NP_001243643.1	Q8N9W5	CS051_HUMAN			4	508	-			101					A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	Silent	SNP	ENST00000524407.2	37	c.507G>A	CCDS59422.1																																																																																				0.532	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250388.5	NM_178837		13	291	0	0	0	0.00185496	0	13	291				
FAM47C	442444	broad.mit.edu	37	X	37028585	37028585	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:37028585G>A	ENST00000358047.3	+	1	2154	c.2102G>A	c.(2101-2103)cGt>cAt	p.R701H		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	701										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGTGTCCCGTCTCCACCCA	0.647																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(2101-2103)cGt>cAt		family with sequence similarity 47, member C							50.0	49.0	49.0					X																	37028585		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37028585G>A	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2102G>A	X.37:g.37028585G>A	ENSP00000367913:p.Arg701His						p.R701H	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	2154	+			701					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.2102G>A	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	0.173	-1.069496	0.01918	.	.	ENSG00000198173	ENST00000358047	T	0.12879	2.64	1.03	-1.87	0.07737	.	.	.	.	.	T	0.04137	0.0115	N	0.01352	-0.895	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.39313	-0.9620	9	0.39692	T	0.17	.	6.6045	0.22718	0.4044:0.0:0.5956:0.0	.	701	Q5HY64	FA47C_HUMAN	H	701	ENSP00000367913:R701H	ENSP00000367913:R701H	R	+	2	0	FAM47C	36938506	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	-0.468000	0.06656	-1.790000	0.01263	-1.767000	0.00664	CGT		0.647	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		7	434	0	0	0	0.000442599	0	7	434				
FAM188B	84182	broad.mit.edu	37	7	30825421	30825421	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:30825421C>A	ENST00000265299.6	+	4	553	c.476C>A	c.(475-477)cCg>cAg	p.P159Q	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	159										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAAAGGCCCCCGCACAAAAGT	0.448																																						ENST00000265299.6																			0				endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(475-477)cCg>cAg		family with sequence similarity 188, member B							99.0	104.0	102.0					7																	30825421		1846	4097	5943	SO:0001583	missense	84182							g.chr7:30825421C>A	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.476C>A	7.37:g.30825421C>A	ENSP00000265299:p.Pro159Gln					INMT-FAM188B_ENST00000458257.1_3'UTR	p.P159Q	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN			4	553	+			159					Q71AZ7|Q9H6D2	Missense_Mutation	SNP	ENST00000265299.6	37	c.476C>A	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	C	2.790	-0.251521	0.05867	.	.	ENSG00000106125	ENST00000265299	T	0.23552	1.9	5.19	2.32	0.28847	.	0.790451	0.11983	N	0.510580	T	0.16642	0.0400	L	0.41236	1.265	0.09310	N	1	P	0.34955	0.477	B	0.24701	0.055	T	0.19943	-1.0290	10	0.87932	D	0	-7.9428	4.8572	0.13564	0.1701:0.6496:0.0:0.1803	.	159	Q4G0A6	F188B_HUMAN	Q	159	ENSP00000265299:P159Q	ENSP00000265299:P159Q	P	+	2	0	FAM188B	30791946	0.001000	0.12720	0.104000	0.21259	0.172000	0.22775	1.070000	0.30653	0.762000	0.33152	0.650000	0.86243	CCG		0.448	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222		9	680	1	0	2.17888e-05	0.000442599	9.97001e-05	9	680				
LOC100287934	100287934	broad.mit.edu	37	1	745371	745371	+	RNA	DEL	A	A	-	rs146246821		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:745371delA	ENST00000435300.1	-	0	804				RP11-206L10.8_ENST00000447500.1_RNA																							TTTATTTCATAAGATAGCATT	0.299																																						ENST00000447500.1																			0																																																			0							g.chr1:745371delA																													1.37:g.745371delA														0	95	-									RNA	DEL	ENST00000435300.1	37																																																																																						0.299	RP11-206L10.10-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000007014.1			7	64						7	64	---	---	---	---
ST6GALNAC5	81849	broad.mit.edu	37	1	77334277	77334279	+	In_Frame_Del	DEL	GCA	GCA	-	rs113832855|rs373434974		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:77334277_77334279delGCA	ENST00000477717.1	+	2	346_348	c.111_113delGCA	c.(109-114)ccgcag>ccg	p.Q49del	ST6GALNAC5_ENST00000496845.1_3'UTR	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	49	Poly-Gln.				glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						AGCGGCCCCCgcagcagcagcag	0.7																																						ENST00000477717.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						c.(109-114)ccg>cc		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5				633,280,2837		87,67,392,25,163,1141						-1.1	1.0		dbSNP_132	16	606,89,6499		39,5,523,5,74,2951	no	codingComplex	ST6GALNAC5	NM_030965.1		126,72,915,30,237,4092	A1A1,A1A2,A1R,A2A2,A2R,RR		9.6608,24.3467,14.693				1239,369,9336				SO:0001651	inframe_deletion	81849				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77334277_77334279delGCA		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"""Sialyltransferases"""	19342	protein-coding gene	gene with protein product		610134	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"""	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.111_113delGCA	1.37:g.77334286_77334288delGCA	ENSP00000417583:p.Gln49del					ST6GALNAC5_ENST00000496845.1_3'UTR	p.PQ37del	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN			2	346_348	+			37					B1AK82	In_Frame_Del	DEL	ENST00000477717.1	37	c.111_113delGCA	CCDS673.1																																																																																				0.700	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		11	182						11	182	---	---	---	---
LPAR3	23566	broad.mit.edu	37	1	85331664	85331665	+	Frame_Shift_Ins	INS	-	-	A	rs76299065		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:85331664_85331665insA	ENST00000440886.1	-	1	177_178	c.139_140insT	c.(139-141)tctfs	p.S47fs	LPAR3_ENST00000491034.1_5'UTR|LPAR3_ENST00000370611.3_Frame_Shift_Ins_p.S47fs			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	47					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						CAGAGAATTAGAAAAAAAAATA	0.401																																						ENST00000440886.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						c.(139-141)taafs		lysophosphatidic acid receptor 3																																				SO:0001589	frameshift_variant	23566				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		g.chr1:85331664_85331665insA	AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	14298	protein-coding gene	gene with protein product		605106	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"""	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.140dupT	1.37:g.85331673_85331673dupA	ENSP00000395389:p.Ser47fs					LPAR3_ENST00000370611.3_Frame_Shift_Ins_p.*47fs|LPAR3_ENST00000491034.1_5'UTR	p.*47fs			Q9UBY5	LPAR3_HUMAN			1	177_178	-			47					A0AVA3	Frame_Shift_Ins	INS	ENST00000440886.1	37	c.139_140insT	CCDS700.1																																																																																				0.401	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	NM_012152		11	490						11	490	---	---	---	---
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121116645	121116645	+	lincRNA	DEL	T	T	-	rs377003181		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:121116645delT	ENST00000437515.1	-	0	329					NR_104189.1																						CAAGCCCCCCTTTAAAAAAAA	0.393																																						ENST00000437515.1																			0																																																			0							g.chr1:121116645delT																													1.37:g.121116645delT														0	329	-									RNA	DEL	ENST00000437515.1	37																																																																																						0.393	RP11-343N15.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000098477.2			22	230						22	230	---	---	---	---
BCL9	607	broad.mit.edu	37	1	147091501	147091501	+	Frame_Shift_Del	DEL	C	C	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:147091501delC	ENST00000234739.3	+	8	2280	c.1540delC	c.(1540-1542)cccfs	p.P517fs		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	517	Poly-Pro.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GGTCCGAGGACCCCCCCCTCC	0.582			T	"""IGH@, IGL@"""	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"""IGH@, IGL@"""		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(1540-1542)ccfs		B-cell CLL/lymphoma 9				35,42,4183		0,0,35,4,34,2057	60.0	70.0	66.0			3.6	1.0	1		67	38,97,8115		0,0,38,24,49,4014	no	codingComplex	BCL9	NM_004326.2		0,0,73,28,83,6071	A1A1,A1A2,A1R,A2A2,A2R,RR		1.6364,1.8075,1.6946			147091501	73,139,12298	2203	4300	6503	SO:0001589	frameshift_variant	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147091501delC	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.1540delC	1.37:g.147091501delC	ENSP00000234739:p.Pro517fs						p.P517fs	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			8	2280	+	all_hematologic(923;0.115)		517			Poly-Pro.|Pro-rich.		Q5T489	Frame_Shift_Del	DEL	ENST00000234739.3	37	c.1540delC	CCDS30833.1																																																																																				0.582	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		9	646						9	646	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152324558	152324559	+	Frame_Shift_Del	DEL	TG	TG	-	rs140875805		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:152324558_152324559delTG	ENST00000388718.5	-	3	5775_5776	c.5703_5704delCA	c.(5701-5706)cacagcfs	p.HS1901fs	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1901					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.H1901fs*30(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCTTGGCTGTGTGTGTGTC	0.515																																						ENST00000388718.5																			1	Deletion - Frameshift(1)	p.H1901fs*30(1)	large_intestine(1)	NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(5701-5706)cagcfs		filaggrin family member 2																																				SO:0001589	frameshift_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152324558_152324559delTG	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5703_5704delCA	1.37:g.152324566_152324567delTG	ENSP00000373370:p.His1901fs					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.HS1901fs	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5775_5776	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1901					Q9H4U1	Frame_Shift_Del	DEL	ENST00000388718.5	37	c.5703_5704delCA	CCDS30861.1																																																																																				0.515	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		16	1397						16	1397	---	---	---	---
SPRR4	163778	broad.mit.edu	37	1	152944390	152944392	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:152944390_152944392delGCA	ENST00000328051.2	+	2	73_75	c.24_26delGCA	c.(22-27)cggcag>cgg	p.Q12del		NM_173080.1	NP_775103.1	Q96PI1	SPRR4_HUMAN	small proline-rich protein 4	12	Gln-rich.				keratinization (GO:0031424)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)				lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			agcagcagcggcagcagcagcag	0.552																																						ENST00000328051.2																			0				lung(1)|prostate(1)	2						c.(22-27)cgg>cg		small proline-rich protein 4																																				SO:0001651	inframe_deletion	163778				keratinization|peptide cross-linking	cell cortex		g.chr1:152944390_152944392delGCA	AF335109	CCDS1031.1	1q21.3	2008-02-05	2006-11-29		ENSG00000184148	ENSG00000184148			23173	protein-coding gene	gene with protein product						11719550, 11279051	Standard	NM_173080		Approved		uc001fav.1	Q96PI1	OTTHUMG00000012450	ENST00000328051.2:c.24_26delGCA	1.37:g.152944399_152944401delGCA	ENSP00000332163:p.Gln12del						p.RQ8del	NM_173080.1	NP_775103.1	Q96PI1	SPRR4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	73_75	+	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		8			Gln-rich.		Q2M1Y7|Q5T522	In_Frame_Del	DEL	ENST00000328051.2	37	c.24_26delGCA	CCDS1031.1																																																																																				0.552	SPRR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034663.1	NM_173080		8	867						8	867	---	---	---	---
LMX1A	4009	broad.mit.edu	37	1	165177332	165177334	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:165177332_165177334delTGC	ENST00000342310.3	-	7	1165_1167	c.783_785delGCA	c.(781-786)cagcaa>caa	p.261_262QQ>Q	LMX1A_ENST00000294816.2_In_Frame_Del_p.261_262QQ>Q|RP11-38C18.2_ENST00000457106.1_RNA|LMX1A_ENST00000367893.4_In_Frame_Del_p.261_262QQ>Q|LMX1A_ENST00000489443.2_5'UTR	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	261	Gln-rich.|Poly-Gln.				axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CTGCTGATCTTGCTGCTGCTGCT	0.567																																						ENST00000342310.3																			0				NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35						c.(781-786)caa>ca		LIM homeobox transcription factor 1, alpha																																				SO:0001651	inframe_deletion	4009					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:165177332_165177334delTGC	AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"""Homeoboxes / LIM class"""	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.783_785delGCA	1.37:g.165177341_165177343delTGC	ENSP00000340226:p.Gln262del					LMX1A_ENST00000294816.2_In_Frame_Del_p.QQ261del|LMX1A_ENST00000367893.4_In_Frame_Del_p.QQ261del|LMX1A_ENST00000489443.2_5'UTR	p.QQ261del	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN			7	1165_1167	-	all_hematologic(923;0.248)		261			Gln-rich.|Poly-Gln.		B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	In_Frame_Del	DEL	ENST00000342310.3	37	c.783_785delGCA	CCDS1247.1																																																																																				0.567	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2	NM_177398		7	159						7	159	---	---	---	---
POU2F1	5451	broad.mit.edu	37	1	167385016	167385018	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:167385016_167385018delCCA	ENST00000541643.3	+	17	2363_2365	c.2201_2203delCCA	c.(2200-2205)tccacc>tcc	p.T738del	POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000367862.5_In_Frame_Del_p.T750del|POU2F1_ENST00000367866.2_In_Frame_Del_p.T761del|POU2F1_ENST00000429375.2_In_Frame_Del_p.T698del			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	738					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						GGGGCTGCGTCCACCACCACCAC	0.601																																						ENST00000367862.5																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						c.(2236-2241)tcc>t		POU class 2 homeobox 1																																				SO:0001651	inframe_deletion	5451				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:167385016_167385018delCCA	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"""Homeoboxes / POU class"""	9212	protein-coding gene	gene with protein product		164175	"""POU domain class 2, transcription factor 1"""	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.2201_2203delCCA	1.37:g.167385025_167385027delCCA	ENSP00000441285:p.Thr738del					POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000367866.2_In_Frame_Del_p.ST757del|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000429375.2_In_Frame_Del_p.ST694del|POU2F1_ENST00000541643.3_In_Frame_Del_p.ST734del	p.ST746del	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN			16	2472_2474	+			734					B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	In_Frame_Del	DEL	ENST00000541643.3	37	c.2237_2239delCCA																																																																																					0.601	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697		7	756						7	756	---	---	---	---
INTS7	25896	broad.mit.edu	37	1	212115191	212115193	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:212115191_212115193delTGC	ENST00000366994.3	-	20	2966_2968	c.2862_2864delGCA	c.(2860-2865)cagcaa>caa	p.954_955QQ>Q	INTS7_ENST00000366992.3_In_Frame_Del_p.934_935QQ>Q|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000440600.2_In_Frame_Del_p.905_906QQ>Q|INTS7_ENST00000366993.3_In_Frame_Del_p.940_941QQ>Q	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	954	Gln-rich.				cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GGCATTGCGTTGCTGCTGCTGCT	0.443																																						ENST00000366994.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(2860-2865)caa>ca		integrator complex subunit 7																																				SO:0001651	inframe_deletion	25896				snRNA processing	integrator complex	protein binding	g.chr1:212115191_212115193delTGC	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.2862_2864delGCA	1.37:g.212115200_212115202delTGC	ENSP00000355961:p.Gln955del					INTS7_ENST00000366993.3_In_Frame_Del_p.QQ940del|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_In_Frame_Del_p.QQ934del|INTS7_ENST00000440600.2_In_Frame_Del_p.QQ905del	p.QQ954del	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	20	2966_2968	-			954			Gln-rich.		B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	In_Frame_Del	DEL	ENST00000366994.3	37	c.2862_2864delGCA	CCDS1501.1																																																																																				0.443	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		9	1002						9	1002	---	---	---	---
PTPN14	5784	broad.mit.edu	37	1	214549710	214549710	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:214549710delT	ENST00000366956.5	-	15	2953	c.2759delA	c.(2758-2760)aagfs	p.K920fs	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	920	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GCCATTCGCCTTTTTCTTTGG	0.458																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			0				NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(2758-2760)agfs		protein tyrosine phosphatase, non-receptor type 14							168.0	161.0	164.0					1																	214549710		2203	4300	6503	SO:0001589	frameshift_variant	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214549710delT	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.2759delA	1.37:g.214549710delT	ENSP00000355923:p.Lys920fs					PTPN14_ENST00000543945.1_3'UTR	p.K920fs	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	15	2953	-			920			Tyrosine-protein phosphatase.		Q5VSI0	Frame_Shift_Del	DEL	ENST00000366956.5	37	c.2759delA	CCDS1514.1																																																																																				0.458	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		7	948						7	948	---	---	---	---
KCTD3	51133	broad.mit.edu	37	1	215747170	215747171	+	Frame_Shift_Ins	INS	-	-	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:215747170_215747171insT	ENST00000259154.4	+	2	419_420	c.125_126insT	c.(124-129)tcttttfs	p.SF42fs		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	42	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		ATTCCAGATTCTTTTTTTTCCA	0.228																																						ENST00000259154.4																			0				breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33						c.(124-126)tttfs		potassium channel tetramerization domain containing 3																																				SO:0001589	frameshift_variant	51133					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr1:215747170_215747171insT	AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"""potassium channel tetramerisation domain containing 3"""			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.133dupT	1.37:g.215747178_215747178dupT	ENSP00000259154:p.Ser42fs						p.F42fs	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN		all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)	2	419_420	+			42			BTB.		A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Frame_Shift_Ins	INS	ENST00000259154.4	37	c.125_126insT	CCDS1515.1																																																																																				0.228	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121		11	1200						11	1200	---	---	---	---
ARID4B	51742	broad.mit.edu	37	1	235377267	235377269	+	In_Frame_Del	DEL	TCT	TCT	-	rs577765532	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:235377267_235377269delTCT	ENST00000264183.3	-	17	2153_2155	c.1656_1658delAGA	c.(1654-1659)gaagag>gag	p.552_553EE>E	ARID4B_ENST00000349213.3_Intron|ARID4B_ENST00000366603.2_In_Frame_Del_p.552_553EE>E	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	552	Glu-rich.				histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			atcttcatcctcttcttcttctt	0.404														3	0.000599042	0.0008	0.0	5008	,	,		20262	0.001		0.0	False		,,,				2504	0.001					ENST00000264183.3																			0				NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8						c.(1654-1659)gag>ga		AT rich interactive domain 4B (RBP1-like)																																				SO:0001651	inframe_deletion	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235377267_235377269delTCT	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.1656_1658delAGA	1.37:g.235377276_235377278delTCT	ENSP00000264183:p.Glu553del					ARID4B_ENST00000366603.2_In_Frame_Del_p.EE552del|ARID4B_ENST00000349213.3_Intron	p.EE552del	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		17	2153_2155	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	552			Glu-rich.		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	In_Frame_Del	DEL	ENST00000264183.3	37	c.1656_1658delAGA	CCDS31061.1																																																																																				0.404	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		16	770						16	770	---	---	---	---
MTR	4548	broad.mit.edu	37	1	237024474	237024474	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:237024474delA	ENST00000366577.5	+	20	2487	c.2093delA	c.(2092-2094)caafs	p.Q698fs	MTR_ENST00000535889.1_Intron	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	698	B12-binding N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00666}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AGGTTAAACCAAAAAAAATAT	0.308																																						ENST00000366577.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67						c.(2092-2094)cafs		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)			61,4205		23,15,2095	67.0	69.0	68.0			3.8	1.0	1		69	81,8173		35,11,4081	no	frameshift	MTR	NM_000254.2		58,26,6176	A1A1,A1R,RR		0.9813,1.4299,1.1342			237024474	142,12378	2203	4300	6503	SO:0001589	frameshift_variant	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237024474delA	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.2093delA	1.37:g.237024474delA	ENSP00000355536:p.Gln698fs					MTR_ENST00000535889.1_Intron	p.Q698fs	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	20	2487	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	698			B12-binding N-terminal.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Frame_Shift_Del	DEL	ENST00000366577.5	37	c.2093delA	CCDS1614.1																																																																																				0.308	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		7	587						7	587	---	---	---	---
BRE	9577	broad.mit.edu	37	2	28521301	28521301	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:28521301delA	ENST00000342045.2	+	12	1172	c.1031delA	c.(1030-1032)caafs	p.Q344fs	BRE_ENST00000379624.1_Frame_Shift_Del_p.Q344fs|BRE_ENST00000361704.2_Frame_Shift_Del_p.Q344fs|BRE_ENST00000379632.2_Frame_Shift_Del_p.Q344fs|BRE_ENST00000344773.2_Frame_Shift_Del_p.Q344fs	NM_199194.2	NP_954664.1			brain and reproductive organ-expressed (TNFRSF1A modulator)											NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					TCCCAGGCCCAAAAAAATTAT	0.448																																						ENST00000344773.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23						c.(1030-1032)cafs		brain and reproductive organ-expressed (TNFRSF1A modulator)							132.0	134.0	133.0					2																	28521301		2203	4300	6503	SO:0001589	frameshift_variant	9577				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding	g.chr2:28521301delA	AF015767	CCDS1763.1, CCDS1764.1, CCDS1765.1	2p23	2008-02-05			ENSG00000158019	ENSG00000158019			1106	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 4"""	610497				9737713, 7826398	Standard	NM_004899		Approved	BRCC45, BRCC4	uc002rls.3	Q9NXR7	OTTHUMG00000097831	ENST00000342045.2:c.1031delA	2.37:g.28521301delA	ENSP00000339371:p.Gln344fs					BRE_ENST00000379624.1_Frame_Shift_Del_p.Q344fs|BRE_ENST00000379632.2_Frame_Shift_Del_p.Q344fs|BRE_ENST00000342045.2_Frame_Shift_Del_p.Q344fs|BRE_ENST00000361704.2_Frame_Shift_Del_p.Q344fs	p.Q344fs	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN			11	1169	+	Acute lymphoblastic leukemia(172;0.155)		344			UEV-like 2.			Frame_Shift_Del	DEL	ENST00000342045.2	37	c.1031delA	CCDS1763.1																																																																																				0.448	BRE-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215114.1			7	692						7	692	---	---	---	---
SLC9A4	389015	broad.mit.edu	37	2	103149137	103149137	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:103149137delA	ENST00000295269.4	+	12	2844	c.2387delA	c.(2386-2388)caafs	p.Q796fs		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	796					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CCTTTGCTCCAAAAAAAATAG	0.473																																						ENST00000295269.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2386-2388)cafs		solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4							43.0	37.0	39.0					2																	103149137		2203	4300	6503	SO:0001589	frameshift_variant	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103149137delA		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.2387delA	2.37:g.103149137delA	ENSP00000295269:p.Gln796fs						p.Q796fs	NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN			12	2844	+			796					Q69YK0	Frame_Shift_Del	DEL	ENST00000295269.4	37	c.2387delA	CCDS33264.1																																																																																				0.473	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		7	246						7	246	---	---	---	---
ANKAR	150709	broad.mit.edu	37	2	190554683	190554683	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:190554683delT	ENST00000520309.1	+	3	1120	c.1032delT	c.(1030-1032)cctfs	p.P344fs	ANKAR_ENST00000281412.6_Frame_Shift_Del_p.P108fs|ANKAR_ENST00000461516.1_3'UTR|ANKAR_ENST00000431575.2_Frame_Shift_Del_p.P273fs|ANKAR_ENST00000438402.2_Frame_Shift_Del_p.P344fs|ANKAR_ENST00000313581.4_Frame_Shift_Del_p.P344fs	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	344						integral component of membrane (GO:0016021)		p.P344P(1)|p.P273P(1)|p.S346fs*59(1)|p.S275fs*59(1)		breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TGCTTCAGCCTTTTTCAGGTA	0.289																																						ENST00000520309.1																			4	Deletion - Frameshift(2)|Substitution - coding silent(2)	p.P344P(1)|p.P273P(1)|p.S346fs*59(1)|p.S275fs*59(1)	lung(4)	breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(1030-1032)ccfs		ankyrin and armadillo repeat containing							39.0	44.0	42.0					2																	190554683		2064	4223	6287	SO:0001589	frameshift_variant	150709					integral to membrane	binding	g.chr2:190554683delT	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.1032delT	2.37:g.190554683delT	ENSP00000427882:p.Pro344fs					ANKAR_ENST00000313581.4_Frame_Shift_Del_p.P344fs|ANKAR_ENST00000431575.2_Frame_Shift_Del_p.P273fs|ANKAR_ENST00000438402.2_Frame_Shift_Del_p.P344fs|ANKAR_ENST00000461516.1_3'UTR|ANKAR_ENST00000281412.6_Frame_Shift_Del_p.P108fs	p.P344fs	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		3	1120	+			344					Q3ZCS6|Q4G0M2|Q6ZU02	Frame_Shift_Del	DEL	ENST00000520309.1	37	c.1032delT	CCDS33351.2																																																																																				0.289	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		7	574						7	574	---	---	---	---
GIGYF2	26058	broad.mit.edu	37	2	233712228	233712230	+	In_Frame_Del	DEL	CAG	CAG	-	rs62640389|rs10555297|rs398061180|rs527464858|rs58340018	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:233712228_233712230delCAG	ENST00000409547.1	+	29	3942_3944	c.3631_3633delCAG	c.(3631-3633)cagdel	p.Q1216del	GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q1237del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q1238del|GIGYF2_ENST00000373566.3_In_Frame_Del_p.Q1238del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q1210del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q1216del	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1216	Gln-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.Q1216delQ(2)|p.Q1237delQ(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		gcagctgccacagcagcagcagc	0.547																																						ENST00000373566.3																			3	Deletion - In frame(3)	p.Q1216delQ(2)|p.Q1237delQ(1)	breast(2)|ovary(1)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(3697-3699)del		GRB10 interacting GYF protein 2																																				SO:0001651	inframe_deletion	26058				cell death		protein binding	g.chr2:233712228_233712230delCAG	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.3631_3633delCAG	2.37:g.233712237_233712239delCAG	ENSP00000386537:p.Gln1216del					GIGYF2_ENST00000409547.1_In_Frame_Del_p.Q1216del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q1237del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q1210del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q1216del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q1238del	p.Q1238del			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	28	3894_3896	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	1216			Gln-rich.		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	In_Frame_Del	DEL	ENST00000409547.1	37	c.3697_3699delCAG	CCDS33401.1																																																																																				0.547	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		14	345						14	345	---	---	---	---
USP40	55230	broad.mit.edu	37	2	234394236	234394237	+	Frame_Shift_Ins	INS	-	-	T	rs572063854		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:234394236_234394237insT	ENST00000427112.2	-	29	3476_3477	c.3441_3442insA	c.(3439-3444)aaacaafs	p.Q1148fs	USP40_ENST00000251722.6_Frame_Shift_Ins_p.Q1148fs|USP40_ENST00000450966.1_Frame_Shift_Ins_p.Q1160fs|USP40_ENST00000496298.1_5'UTR			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	1148					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		AAATAATCTTGTTTTTTTTTCT	0.337																																						ENST00000251722.6																			0				breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(3439-3444)aaaagafs		ubiquitin specific peptidase 40				3,3499		0,3,1748						4.9	1.0			69	11,7805		1,9,3898	no	frameshift	USP40	NM_018218.2		1,12,5646	A1A1,A1R,RR		0.1407,0.0857,0.1237				14,11304				SO:0001589	frameshift_variant	55230				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:234394236_234394237insT	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.3442dupA	2.37:g.234394245_234394245dupT	ENSP00000387898:p.Gln1148fs					USP40_ENST00000427112.2_Frame_Shift_Ins_p.R1148fs|USP40_ENST00000450966.1_Frame_Shift_Ins_p.R1160fs|USP40_ENST00000496298.1_5'UTR	p.R1148fs			Q9NVE5	UBP40_HUMAN		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)	30	3558_3559	-		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)	1148					Q6NX38|Q70EL0	Frame_Shift_Ins	INS	ENST00000427112.2	37	c.3441_3442insA	CCDS46547.1																																																																																				0.337	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294		9	355						9	355	---	---	---	---
NKTR	4820	broad.mit.edu	37	3	42679764	42679764	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:42679764delA	ENST00000232978.8	+	13	2756	c.2568delA	c.(2566-2568)tcafs	p.S856fs	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	856					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GCCCTCATTCAAAAAAAAGAA	0.373																																						ENST00000232978.8																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41						c.(2566-2568)tcfs		natural killer-tumor recognition sequence							44.0	49.0	47.0					3																	42679764		2191	4295	6486	SO:0001589	frameshift_variant	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42679764delA		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.2568delA	3.37:g.42679764delA	ENSP00000232978:p.Ser856fs					RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	p.S856fs	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	2756	+			856						Frame_Shift_Del	DEL	ENST00000232978.8	37	c.2568delA	CCDS2702.1																																																																																				0.373	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		7	275						7	275	---	---	---	---
USP4	7375	broad.mit.edu	37	3	49321969	49321971	+	In_Frame_Del	DEL	TCT	TCT	-	rs370067968		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:49321969_49321971delTCT	ENST00000265560.4	-	18	2364_2366	c.2318_2320delAGA	c.(2317-2322)aagacc>acc	p.K773del	USP4_ENST00000351842.4_In_Frame_Del_p.K726del	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	773	USP.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GCCACTGTGGTCTTCTTCTTCTT	0.532																																						ENST00000351842.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(2176-2181)acc>a		ubiquitin specific peptidase 4 (proto-oncogene)			,	11,4255		0,11,2122					,	3.8	0.1			132	0,8254		0,0,4127	no	coding,coding	USP4	NM_199443.2,NM_003363.3	,	0,11,6249	A1A1,A1R,RR		0.0,0.2579,0.0879	,	,		11,12509				SO:0001651	inframe_deletion	7375				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:49321969_49321971delTCT	U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.2318_2320delAGA	3.37:g.49321978_49321980delTCT	ENSP00000265560:p.Lys773del					USP4_ENST00000265560.4_In_Frame_Del_p.KT773del	p.KT726del	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)	17	2185_2187	-		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)	773					A8K6Y0|C9IY91|O43452|O43453|Q08AK8	In_Frame_Del	DEL	ENST00000265560.4	37	c.2177_2179delAGA	CCDS2793.1																																																																																				0.532	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443		7	519						7	519	---	---	---	---
ZNF717	100131827	broad.mit.edu	37	3	75790810	75790811	+	Frame_Shift_Ins	INS	-	-	T	rs199577560	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:75790810_75790811insT	ENST00000477374.1	-	3	305_306	c.134_135insA	c.(133-135)accfs	p.T45fs	ZNF717_ENST00000478296.1_5'UTR|ZNF717_ENST00000422325.1_Frame_Shift_Ins_p.T45fs|ZNF717_ENST00000400845.3_Frame_Shift_Ins_p.T38fs|ZNF717_ENST00000491507.1_5'UTR			Q9BY31	ZN717_HUMAN	zinc finger protein 717	38	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						CCCTGTACAGGGTCCTCTGAGC	0.51																																						ENST00000422325.1																			0				autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						c.(133-135)actfs		zinc finger protein 717																																				SO:0001589	frameshift_variant	100131827				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr3:75790810_75790811insT	AF226994		3p12.3	2013-01-08			ENSG00000227124	ENSG00000227124		"""Zinc fingers, C2H2-type"", ""-"""	29448	protein-coding gene	gene with protein product			"""zinc finger protein 838"""	ZNF838			Standard	NM_001128223		Approved	X17	uc011bgi.2	Q9BY31	OTTHUMG00000158965	ENST00000477374.1:c.134_135insA	3.37:g.75790810_75790811insT	ENSP00000417902:p.Thr45fs					ZNF717_ENST00000400845.3_Frame_Shift_Ins_p.T38fs|ZNF717_ENST00000477374.1_Frame_Shift_Ins_p.T45fs|ZNF717_ENST00000491507.1_5'UTR|ZNF717_ENST00000478296.1_5'UTR	p.T45fs	NM_001128223.1	NP_001121695.1	C9JSV9	C9JSV9_HUMAN			3	456_457	-			45						Frame_Shift_Ins	INS	ENST00000477374.1	37	c.134_135insA																																																																																					0.510	ZNF717-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000352767.1	NM_001128223		4	9						4	9	---	---	---	---
VGLL3	389136	broad.mit.edu	37	3	87027857	87027859	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:87027857_87027859delCTC	ENST00000398399.2	-	2	583_585	c.220_222delGAG	c.(220-222)gagdel	p.E74del	VGLL3_ENST00000383698.3_In_Frame_Del_p.E74del	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GCTGGtctttctcctcctcctcc	0.502																																						ENST00000398399.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19						c.(220-222)del		vestigial like 3 (Drosophila)				1,38,3879		0,0,1,6,26,1926						5.1	1.0			64	3,85,7944		0,0,3,22,41,3950	no	codingComplex	VGLL3	NM_016206.2		0,0,4,28,67,5876	A1A1,A1A2,A1R,A2A2,A2R,RR		1.0956,0.9954,1.0628				4,123,11823				SO:0001651	inframe_deletion	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87027857_87027859delCTC	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"""vestigial like 3 (Drosophila)"""			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.220_222delGAG	3.37:g.87027866_87027868delCTC	ENSP00000381436:p.Glu74del					VGLL3_ENST00000383698.3_In_Frame_Del_p.E74del	p.E74del	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	2	583_585	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	74						In_Frame_Del	DEL	ENST00000398399.2	37	c.220_222delGAG	CCDS43110.1																																																																																				0.502	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		9	180						9	180	---	---	---	---
GABRG1	2565	broad.mit.edu	37	4	46060358	46060358	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr4:46060358delA	ENST00000295452.4	-	7	959	c.792delT	c.(790-792)tttfs	p.F264fs		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	264					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.F264fs*3(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGCTCAGGTCAAAAAAAATTG	0.294																																						ENST00000295452.4																			1	Deletion - Frameshift(1)	p.F264fs*3(1)	large_intestine(1)	breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(790-792)ttfs		gamma-aminobutyric acid (GABA) A receptor, gamma 1							94.0	97.0	96.0					4																	46060358		2203	4300	6503	SO:0001589	frameshift_variant	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46060358delA	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.792delT	4.37:g.46060358delA	ENSP00000295452:p.Phe264fs						p.F264fs	NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	7	959	-			264					Q5H9T8	Frame_Shift_Del	DEL	ENST00000295452.4	37	c.792delT	CCDS3470.1																																																																																				0.294	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		8	338						8	338	---	---	---	---
CLOCK	9575	broad.mit.edu	37	4	56304530	56304532	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr4:56304530_56304532delCTG	ENST00000309964.4	-	21	2528_2530	c.2278_2280delCAG	c.(2278-2280)cagdel	p.Q760del	CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	760	Gln-rich.|Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			cctgggagctctgctgctgctgc	0.512																																						ENST00000309964.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(2278-2280)del		clock circadian regulator																																				SO:0001651	inframe_deletion	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56304530_56304532delCTG	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.2278_2280delCAG	4.37:g.56304539_56304541delCTG	ENSP00000308741:p.Gln760del					CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del	p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		21	2528_2530	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		760			Gln-rich.		A0AV01|A2I2N9|O14516|Q9UIT8	In_Frame_Del	DEL	ENST00000309964.4	37	c.2278_2280delCAG	CCDS3500.1																																																																																				0.512	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		8	269						8	269	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134073569	134073571	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr4:134073569_134073571delCTG	ENST00000264360.5	+	1	3100_3102	c.2274_2276delCTG	c.(2272-2277)ctctgc>ctc	p.C763del		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	763	Cys-rich.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ATTGCTGCCTCTGCTGCTGCTGC	0.581																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(2272-2277)ctc>ct		protocadherin 10																																				SO:0001651	inframe_deletion	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073569_134073571delCTG	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2274_2276delCTG	4.37:g.134073578_134073580delCTG	ENSP00000264360:p.Cys763del						p.LC758del	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	3100_3102	+			758			Cys-rich.		Q4W5F6|Q96SF0	In_Frame_Del	DEL	ENST00000264360.5	37	c.2274_2276delCTG	CCDS34063.1																																																																																				0.581	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		11	229						11	229	---	---	---	---
RP11-254I22.1	0	broad.mit.edu	37	5	95414786	95414787	+	lincRNA	INS	-	-	TAAAA	rs34328926|rs80243332|rs60523167|rs5869706	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:95414786_95414787insTAAAA	ENST00000507997.1	+	0	87				MIR583_ENST00000384846.1_RNA|CTD-2337A12.1_ENST00000511775.1_RNA|CTD-2337A12.1_ENST00000502645.2_RNA																							acccatgcacttaaagttaaaa	0.361														2975	0.59405	0.7156	0.4813	5008	,	,		22499	0.495		0.6362	False		,,,				2504	0.5685					ENST00000507997.1																			0																	2353,1165		895,563,301						0.2	0.1		dbSNP_114	36	3841,2837		1367,1107,865	no	intergenic				2262,1670,1166	A1A1,A1R,RR		42.4828,33.1154,39.2507				6194,4002						0							g.chr5:95414786_95414787insTAAAA																													5.37:g.95414786_95414787insTAAAA						CTD-2337A12.1_ENST00000511775.1_RNA|CTD-2337A12.1_ENST00000502645.2_RNA								0	87	+									RNA	INS	ENST00000507997.1	37																																																																																						0.361	RP11-254I22.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000370578.1			19	30						19	30	---	---	---	---
CSNK1G3	1456	broad.mit.edu	37	5	122881495	122881495	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:122881495delA	ENST00000361991.2	+	1	168	c.138delA	c.(136-138)ggafs	p.G46fs	CSNK1G3_ENST00000508708.1_3'UTR|CSNK1G3_ENST00000395412.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000360683.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000510842.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000395411.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000512718.3_Intron|CSNK1G3_ENST00000521364.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000345990.4_Frame_Shift_Del_p.G46fs			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	46	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		TTAGAGTTGGAAAAAAAATTG	0.363																																					Pancreas(187;2868 2964 4353 6297)	ENST00000395412.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15						c.(136-138)ggfs		casein kinase 1, gamma 3							102.0	101.0	101.0					5																	122881495		2203	4300	6503	SO:0001589	frameshift_variant	1456				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr5:122881495delA	AF049090	CCDS4135.1, CCDS34218.1, CCDS43355.1, CCDS59491.1, CCDS59492.1, CCDS59493.1	5q23	2013-01-17			ENSG00000151292	ENSG00000151292			2456	protein-coding gene	gene with protein product		604253				9925945	Standard	NM_004384		Approved		uc031skv.1	Q9Y6M4	OTTHUMG00000128923	ENST00000361991.2:c.138delA	5.37:g.122881495delA	ENSP00000354942:p.Gly46fs					CSNK1G3_ENST00000521364.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000512718.3_Intron|CSNK1G3_ENST00000510842.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000345990.4_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000361991.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000508708.1_3'UTR|CSNK1G3_ENST00000360683.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000395411.1_Frame_Shift_Del_p.G46fs	p.G46fs	NM_001044723.1	NP_001038188.1	Q9Y6M4	KC1G3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)	2	857	+		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	46			Protein kinase.		A8K040|B4DSH2|B7Z9Q4|E7EVD0|Q86WZ7|Q9Y6M3	Frame_Shift_Del	DEL	ENST00000361991.2	37	c.138delA	CCDS4135.1																																																																																				0.363	CSNK1G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250900.1	NM_004384		7	536						7	536	---	---	---	---
PCDHGB4	8641	broad.mit.edu	37	5	140767492	140767497	+	In_Frame_Del	DEL	TGCCAG	TGCCAG	-	rs145222727|rs370380135	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:140767492_140767497delTGCCAG	ENST00000519479.1	+	1	41_46	c.41_46delTGCCAG	c.(40-48)ctgccagtg>ctg	p.PV15del	PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	15					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P15_V16delPV(1)		endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGAGAGGCTGCCAGTGCTCTTTCT	0.617											OREG0016859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		166	0.033147	0.0045	0.0476	5008	,	,		16199	0.0		0.0944	False		,,,				2504	0.0327					ENST00000519479.1																			1	Deletion - In frame(1)	p.P15_V16delPV(1)	prostate(1)	endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37						c.(40-48)ctg>c					,,,,,,,,,,,	50,3074		6,38,1518					,,,,,,,,,,,	3.7	0.9		dbSNP_134	6	518,6570		64,390,3090	no	coding,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding	PCDHGB4,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_032098.1,NM_018924.2,NM_018923.2,NM_018922.2,NM_018920.2,NM_018919.2,NM_018918.2,NM_018917.2,NM_018916.3,NM_018915.2,NM_018912.2,NM_003736.2	,,,,,,,,,,,	70,428,4608	A1A1,A1R,RR		7.3081,1.6005,5.5621	,,,,,,,,,,,	,,,,,,,,,,,		568,9644				SO:0001651	inframe_deletion	0							g.chr5:140767492_140767497delTGCCAG	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.41_46delTGCCAG	5.37:g.140767492_140767497delTGCCAG	ENSP00000428288:p.Pro15_Val16del		OREG0016859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1658	PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	p.LPV14del	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	41_46	+								O15099|Q2M267|Q9UN64	In_Frame_Del	DEL	ENST00000519479.1	37	c.41_46delTGCCAG	CCDS54928.1																																																																																				0.617	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		11	19						11	19	---	---	---	---
TIMD4	91937	broad.mit.edu	37	5	156378745	156378747	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:156378745_156378747delTTG	ENST00000274532.2	-	3	511_513	c.455_457delCAA	c.(454-459)acaagc>agc	p.T152del	TIMD4_ENST00000407087.3_In_Frame_Del_p.T152del	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	152	Thr-rich.					integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGTGGGGCTTGTTGTTGTTGT	0.537																																						ENST00000274532.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37						c.(454-459)agc>a		T-cell immunoglobulin and mucin domain containing 4																																				SO:0001651	inframe_deletion	91937					integral to membrane		g.chr5:156378745_156378747delTTG	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.455_457delCAA	5.37:g.156378754_156378756delTTG	ENSP00000274532:p.Thr152del					TIMD4_ENST00000407087.3_In_Frame_Del_p.TS152del	p.TS152del	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	511_513	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	152			Thr-rich.		B5MCL9	In_Frame_Del	DEL	ENST00000274532.2	37	c.455_457delCAA	CCDS4332.1																																																																																				0.537	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		9	1349						9	1349	---	---	---	---
GRK6	2870	broad.mit.edu	37	5	176863219	176863221	+	In_Frame_Del	DEL	GAA	GAA	-	rs76969408		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:176863219_176863221delGAA	ENST00000355472.5	+	12	1371_1373	c.1203_1205delGAA	c.(1201-1206)gtgaag>gtg	p.K402del	GRK6_ENST00000355958.5_In_Frame_Del_p.K402del|PRR7-AS1_ENST00000425316.3_RNA|GRK6_ENST00000507633.1_In_Frame_Del_p.K402del|GRK6_ENST00000528793.1_In_Frame_Del_p.K402del|GRK6_ENST00000393576.3_In_Frame_Del_p.K368del	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	402	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)	p.K402delK(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCGGCTGGTGAAGGAGGTCCCC	0.645																																						ENST00000355472.5																			1	Deletion - In frame(1)	p.K402delK(1)	large_intestine(1)	breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25						c.(1201-1206)gtg>gt		G protein-coupled receptor kinase 6																																				SO:0001651	inframe_deletion	2870				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr5:176863219_176863221delGAA		CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.1203_1205delGAA	5.37:g.176863219_176863221delGAA	ENSP00000347655:p.Lys402del					GRK6_ENST00000507633.1_In_Frame_Del_p.VK401del|GRK6_ENST00000393576.3_In_Frame_Del_p.VK367del|GRK6_ENST00000528793.1_In_Frame_Del_p.VK401del|GRK6_ENST00000355958.5_In_Frame_Del_p.VK401del	p.VK401del	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		12	1371_1373	+	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	401			Protein kinase.		O60541|Q13652	In_Frame_Del	DEL	ENST00000355472.5	37	c.1203_1205delGAA	CCDS34303.1																																																																																				0.645	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373204.1	NM_002082		8	301						8	301	---	---	---	---
KIAA0408	9729	broad.mit.edu	37	6	127767596	127767596	+	Frame_Shift_Del	DEL	C	C	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr6:127767596delC	ENST00000483725.3	-	5	2204	c.1868delG	c.(1867-1869)ggafs	p.G623fs	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	623										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		CACTTCCTGTCCCCCCCACAC	0.398																																						ENST00000483725.3																			0				endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28						c.(1867-1869)gafs		KIAA0408							236.0	227.0	230.0					6																	127767596		2203	4300	6503	SO:0001589	frameshift_variant	9729						protein binding	g.chr6:127767596delC	AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.1868delG	6.37:g.127767596delC	ENSP00000435150:p.Gly623fs					SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	p.G623fs	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN		GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)	5	2204	-			623					B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Frame_Shift_Del	DEL	ENST00000483725.3	37	c.1868delG	CCDS34531.1																																																																																				0.398	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702		7	994						7	994	---	---	---	---
ZFAND2A	90637	broad.mit.edu	37	7	1195168	1195168	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:1195168delT	ENST00000316495.3	-	4	462	c.203delA	c.(202-204)aagfs	p.K68fs	ZFAND2A_ENST00000401903.1_Frame_Shift_Del_p.K68fs	NM_182491.2	NP_872297.2	Q8N6M9	ZFN2A_HUMAN	zinc finger, AN1-type domain 2A	68					cellular response to arsenic-containing substance (GO:0071243)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	zinc ion binding (GO:0008270)			lung(2)|ovary(1)	3		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)		TATCTGGCCCTTTTTTACTGG	0.473																																						ENST00000401903.1																			0				lung(2)|ovary(1)	3						c.(202-204)agfs		zinc finger, AN1-type domain 2A							174.0	163.0	167.0					7																	1195168		2203	4300	6503	SO:0001589	frameshift_variant	90637					cytoplasm|nucleus	zinc ion binding	g.chr7:1195168delT	BC029558	CCDS5323.1	7p22.3	2010-04-23			ENSG00000178381	ENSG00000178381		"""Zinc fingers, AN1-type domain containing"""	28073	protein-coding gene	gene with protein product	"""arsenite inducible RNA associated protein"""	610699				20185824	Standard	NM_182491		Approved	AIRAP	uc003skc.3	Q8N6M9	OTTHUMG00000119019	ENST00000316495.3:c.203delA	7.37:g.1195168delT	ENSP00000314619:p.Lys68fs					ZFAND2A_ENST00000316495.3_Frame_Shift_Del_p.K68fs	p.K68fs			Q8N6M9	ZFN2A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)	4	462	-		Ovarian(82;0.11)	68					A4D220	Frame_Shift_Del	DEL	ENST00000316495.3	37	c.203delA	CCDS5323.1																																																																																				0.473	ZFAND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239220.2	NM_182491		7	865						7	865	---	---	---	---
POU6F2	11281	broad.mit.edu	37	7	39379288	39379290	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:39379288_39379290delCAG	ENST00000403058.1	+	6	713_715	c.559_561delCAG	c.(559-561)cagdel	p.Q196del	POU6F2_ENST00000518318.2_In_Frame_Del_p.Q196del|POU6F2_ENST00000559001.1_In_Frame_Del_p.Q188del|POU6F2_ENST00000517348.1_3'UTR	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	196	Gln-rich.			Q -> QQ (in Ref. 1; AAB49727/AAB49728). {ECO:0000305}.	central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						gctccagctccagcagcagcagc	0.616																																						ENST00000518318.2																			0				NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(559-561)del		POU class 6 homeobox 2																																				SO:0001651	inframe_deletion	11281				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:39379288_39379290delCAG	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.559_561delCAG	7.37:g.39379297_39379299delCAG	ENSP00000384004:p.Gln196del					POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_In_Frame_Del_p.Q196del|POU6F2_ENST00000559001.1_In_Frame_Del_p.Q188del	p.Q196del			P78424	PO6F2_HUMAN			5	601_603	+			196	Q -> QQ (in Ref. 1; AAB49727/AAB49728).		Gln-rich.		A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	In_Frame_Del	DEL	ENST00000403058.1	37	c.559_561delCAG	CCDS34620.2																																																																																				0.616	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252		10	142						10	142	---	---	---	---
CCT6P3	643180	broad.mit.edu	37	7	64528813	64528814	+	RNA	INS	-	-	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:64528813_64528814insT	ENST00000426828.1	+	0	621				SNORA15_ENST00000384334.1_RNA|SNORA22_ENST00000384614.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		CTTTCTGTAACTTTTTTTTTTT	0.317																																						ENST00000426828.1																			0																																																			0							g.chr7:64528813_64528814insT			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64528824_64528824dupT								NR_033416.1						0	621	+									RNA	INS	ENST00000426828.1	37																																																																																						0.317	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			11	75						11	75	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103180786	103180786	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:103180786delT	ENST00000428762.1	-	44	6947	c.6788delA	c.(6787-6789)gagfs	p.E2263fs	RELN_ENST00000343529.5_Frame_Shift_Del_p.E2263fs|RELN_ENST00000424685.2_Frame_Shift_Del_p.E2263fs	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2263					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GAAAAGGAACTCCTGAAGAAG	0.542																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(6787-6789)ggfs		reelin							103.0	100.0	101.0					7																	103180786		2203	4300	6503	SO:0001589	frameshift_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103180786delT		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.6788delA	7.37:g.103180786delT	ENSP00000392423:p.Glu2263fs					RELN_ENST00000424685.2_Frame_Shift_Del_p.E2263fs|RELN_ENST00000343529.5_Frame_Shift_Del_p.E2263fs	p.E2263fs	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	44	6947	-			2263					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Frame_Shift_Del	DEL	ENST00000428762.1	37	c.6788delA	CCDS47680.1																																																																																				0.542	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		40	379						40	379	---	---	---	---
WASL	8976	broad.mit.edu	37	7	123332873	123332875	+	In_Frame_Del	DEL	GGA	GGA	-	rs373297831		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:123332873_123332875delGGA	ENST00000223023.4	-	9	1205_1207	c.873_875delTCC	c.(871-876)cctccc>ccc	p.291_292PP>P		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	291	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						gtgtggagggggaggaggaggag	0.567																																						ENST00000223023.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(871-876)ccc>cc		Wiskott-Aldrich syndrome-like				46,4176		1,44,2066						-10.8	0.0			50	62,8114		0,62,4026	no	coding	WASL	NM_003941.2		1,106,6092	A1A1,A1R,RR		0.7583,1.0895,0.8711				108,12290				SO:0001651	inframe_deletion	8976				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity	g.chr7:123332873_123332875delGGA	D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.873_875delTCC	7.37:g.123332882_123332884delGGA	ENSP00000223023:p.Pro294del						p.PP293del	NM_003941.2	NP_003932.3	O00401	WASL_HUMAN			9	1205_1207	-			293			Pro-rich.		A1JUI9|Q7Z746	In_Frame_Del	DEL	ENST00000223023.4	37	c.873_875delTCC	CCDS34743.1																																																																																				0.567	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	NM_003941		8	355						8	355	---	---	---	---
EXOC4	60412	broad.mit.edu	37	7	133160181	133160181	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:133160181delT	ENST00000253861.4	+	8	1311	c.1282delT	c.(1282-1284)tttfs	p.F429fs	EXOC4_ENST00000393161.2_Frame_Shift_Del_p.F429fs|EXOC4_ENST00000539845.1_Frame_Shift_Del_p.F328fs	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	429					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GTTTGCAGCCTTTTTTGCCAA	0.378																																						ENST00000253861.4																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50						c.(1282-1284)ttfs		exocyst complex component 4							123.0	127.0	126.0					7																	133160181		2203	4300	6503	SO:0001589	frameshift_variant	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:133160181delT	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.1282delT	7.37:g.133160181delT	ENSP00000253861:p.Phe429fs					EXOC4_ENST00000393161.2_Frame_Shift_Del_p.F429fs|EXOC4_ENST00000539845.1_Frame_Shift_Del_p.F328fs	p.F429fs	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN			8	1311	+		Esophageal squamous(399;0.129)	429					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Frame_Shift_Del	DEL	ENST00000253861.4	37	c.1282delT	CCDS5829.1																																																																																				0.378	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		9	978						9	978	---	---	---	---
WRN	7486	broad.mit.edu	37	8	30945377	30945379	+	In_Frame_Del	DEL	AAG	AAG	-	rs555283914	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:30945377_30945379delAAG	ENST00000298139.5	+	12	1766_1768	c.1517_1519delAAG	c.(1516-1521)aaagaa>aaa	p.E510del		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	510	Poly-Glu.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTCCTACTAaagaagaagaaga	0.36			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					3	0.000599042	0.0	0.0	5008	,	,		22085	0.001		0.001	False		,,,				2504	0.001				Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"""Mis, N, F, S"""	Werner syndrome (RECQL2)			"""L, E, M, O"""		"""osteosarcoma, meningioma, others"""			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(1516-1521)aaa>a	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like																																				SO:0001651	inframe_deletion	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30945377_30945379delAAG		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1517_1519delAAG	8.37:g.30945386_30945388delAAG	ENSP00000298139:p.Glu510del						p.KE506del	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	12	1766_1768	+		Breast(100;0.195)	506					A1KYY9	In_Frame_Del	DEL	ENST00000298139.5	37	c.1517_1519delAAG	CCDS6082.1																																																																																				0.360	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			9	370						9	370	---	---	---	---
FGFR1	2260	broad.mit.edu	37	8	38285914	38285916	+	In_Frame_Del	DEL	TCA	TCA	-	rs138489552		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:38285914_38285916delTCA	ENST00000447712.2	-	4	1337_1339	c.396_398delTGA	c.(394-399)gatgac>gac	p.132_133DD>D	RP11-350N15.4_ENST00000528407.1_RNA|FGFR1_ENST00000425967.3_In_Frame_Del_p.165_166DD>D|FGFR1_ENST00000397108.4_In_Frame_Del_p.132_133DD>D|FGFR1_ENST00000326324.6_In_Frame_Del_p.43_44DD>D|FGFR1_ENST00000341462.5_In_Frame_Del_p.135_136DD>D|FGFR1_ENST00000397091.5_In_Frame_Del_p.132_133DD>D|FGFR1_ENST00000356207.5_In_Frame_Del_p.43_44DD>D|FGFR1_ENST00000532791.1_In_Frame_Del_p.132_133DD>D|FGFR1_ENST00000397113.2_In_Frame_Del_p.132_133DD>D|FGFR1_ENST00000335922.5_In_Frame_Del_p.124_125DD>D|FGFR1_ENST00000397103.1_In_Frame_Del_p.43_44DD>D	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	132					angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.D133N(3)|p.D44N(1)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TGAAGAGGAGtcatcatcatcat	0.498		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""																														Melanoma(146;1153 1840 21453 21841 43625)	ENST00000341462.5		1		Dom	yes		8	8p11.2-p11.1	2260	T	fibroblast growth factor receptor 1	yes	"""Pfeiffer syndrome, Kallman syndrome"""	L	"""BCR, FOP, ZNF198, CEP1"""		"""MPD, NHL"""	FGFR1/ZNF703(2)	4	Substitution - Missense(4)	p.D133N(3)|p.D44N(1)	stomach(4)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50						c.(403-408)gac>ga		fibroblast growth factor receptor 1	Palifermin(DB00039)		,,,,,,,,	46,3694		0,46,1824					,,,,,,,,	3.9	1.0		dbSNP_134	170	127,7795		0,127,3834	no	coding,coding,coding,coding,coding,coding,coding,coding,coding	FGFR1	NM_023110.2,NM_023106.2,NM_023105.2,NM_015850.3,NM_001174067.1,NM_001174066.1,NM_001174065.1,NM_001174064.1,NM_001174063.1	,,,,,,,,	0,173,5658	A1A1,A1R,RR		1.6031,1.2299,1.4835	,,,,,,,,	,,,,,,,,		173,11489				SO:0001651	inframe_deletion	2260				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	g.chr8:38285914_38285916delTCA	M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.396_398delTGA	8.37:g.38285923_38285925delTCA	ENSP00000400162:p.Asp133del					FGFR1_ENST00000425967.3_In_Frame_Del_p.DD165del|FGFR1_ENST00000397091.5_In_Frame_Del_p.DD132del|FGFR1_ENST00000397103.1_In_Frame_Del_p.DD43del|FGFR1_ENST00000397108.4_In_Frame_Del_p.DD132del|FGFR1_ENST00000397113.2_In_Frame_Del_p.DD132del|FGFR1_ENST00000356207.5_In_Frame_Del_p.DD43del|FGFR1_ENST00000335922.5_In_Frame_Del_p.DD124del|FGFR1_ENST00000326324.6_In_Frame_Del_p.DD43del|FGFR1_ENST00000447712.2_In_Frame_Del_p.DD132del|FGFR1_ENST00000532791.1_In_Frame_Del_p.DD132del	p.DD135del			P11362	FGFR1_HUMAN	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		4	1346_1348	-	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	132					A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	In_Frame_Del	DEL	ENST00000447712.2	37	c.405_407delTGA	CCDS6107.2																																																																																				0.498	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				7	174						7	174	---	---	---	---
TP53INP1	94241	broad.mit.edu	37	8	95952409	95952411	+	In_Frame_Del	DEL	TCT	TCT	-	rs548441545|rs563445319	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:95952409_95952411delTCT	ENST00000342697.4	-	3	557_559	c.150_152delAGA	c.(148-153)gaagag>gag	p.50_51EE>E	NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000378776.4_In_Frame_Del_p.50_51EE>E|TP53INP1_ENST00000448464.2_In_Frame_Del_p.50_51EE>E	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	50	Glu-rich.				apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to hydroperoxide (GO:0071447)|cellular response to methyl methanesulfonate (GO:0072703)|cellular response to UV (GO:0034644)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|response to heat (GO:0009408)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)	p.E50E(1)		kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					GATGTCCTCCTCTTCTTCTTCTT	0.458														16	0.00319489	0.0045	0.0014	5008	,	,		22458	0.0		0.001	False		,,,				2504	0.0082					ENST00000342697.4																			1	Substitution - coding silent(1)	p.E50E(1)	large_intestine(1)	kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9						c.(148-153)gag>ga		tumor protein p53 inducible nuclear protein 1			,	50,2,4210		0,0,50,0,2,2079					,	-3.8	0.0			119	68,3,8183		0,0,68,0,3,4056	no	codingComplex,codingComplex	TP53INP1	NM_033285.3,NM_001135733.1	,	0,0,118,0,5,6135	A1A1,A1A2,A1R,A2A2,A2R,RR		0.8602,1.2201,0.9827	,	,		118,5,12393				SO:0001651	inframe_deletion	0				apoptosis	PML body		g.chr8:95952409_95952411delTCT	AF409115	CCDS6265.1, CCDS47899.1	8q22	2004-03-11				ENSG00000164938			18022	protein-coding gene	gene with protein product		606185				11511362, 12438758	Standard	NM_033285		Approved	DKFZp434M1317, FLJ22139, P53DINP1, SIP, TP53INP1A, TP53INP1B, Teap	uc003yhg.3	Q96A56		ENST00000342697.4:c.150_152delAGA	8.37:g.95952418_95952420delTCT	ENSP00000344215:p.Glu52del					TP53INP1_ENST00000448464.2_In_Frame_Del_p.EE50del|NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000378776.4_In_Frame_Del_p.EE50del	p.EE50del	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN			3	557_559	-	Breast(36;8.75e-07)		50			Glu-rich.		B2RCE5|Q969R9	In_Frame_Del	DEL	ENST00000342697.4	37	c.150_152delAGA	CCDS6265.1																																																																																				0.458	TP53INP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379818.1			9	291						9	291	---	---	---	---
SPATA6L	55064	broad.mit.edu	37	9	4618865	4618865	+	Splice_Site	DEL	T	T	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr9:4618865delT	ENST00000454239.2	-	9	1051	c.806delA	c.(805-807)aag>ag	p.K269fs	SPATA6L_ENST00000475086.1_Splice_Site_p.K211fs|SPATA6L_ENST00000381890.5_Intron|SPATA6L_ENST00000381895.5_Splice_Site_p.K146fs			Q8N4H0	SPA6L_HUMAN	spermatogenesis associated 6-like	269																	TAAAATTACCTTTACGTTAGC	0.333																																						ENST00000454239.2																			0											c.e9+1		spermatogenesis associated 6-like							68.0	64.0	65.0					9																	4618865		1836	4087	5923	SO:0001630	splice_region_variant	55064							g.chr9:4618865delT	AK000920	CCDS43785.1, CCDS43785.2	9p24.2	2012-03-15	2012-03-15	2012-03-15	ENSG00000106686	ENSG00000106686			25472	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 68"""	C9orf68			Standard	NM_001039395		Approved	FLJ10058	uc011llz.2	Q8N4H0	OTTHUMG00000019469	ENST00000454239.2:c.807+1A>-	9.37:g.4618865delT						SPATA6L_ENST00000381895.5_Splice_Site_p.K146_splice|SPATA6L_ENST00000381890.5_Intron|SPATA6L_ENST00000475086.1_Splice_Site_p.K211_splice	p.K269_splice			B4DIY4	B4DIY4_HUMAN			9	1051	-			211					B4DIY4|Q5JVJ5|Q8IY90	Splice_Site	DEL	ENST00000454239.2	37	c.807_splice																																																																																					0.333	SPATA6L-202	KNOWN	basic	protein_coding	protein_coding		NM_017985	Frame_Shift_Del	24	104						24	104	---	---	---	---
PAMR1	25891	broad.mit.edu	37	11	35513670	35513670	+	Frame_Shift_Del	DEL	C	C	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:35513670delC	ENST00000378880.2	-	3	747	c.302delG	c.(301-303)ggtfs	p.G101fs	PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000378878.3_Frame_Shift_Del_p.G101fs|PAMR1_ENST00000532848.1_Frame_Shift_Del_p.G61fs|PAMR1_ENST00000278360.3_Frame_Shift_Del_p.G101fs	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	101						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						ATCCAAGGTACCCCCCCATGA	0.517																																						ENST00000378880.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						c.(301-303)gtfs		peptidase domain containing associated with muscle regeneration 1							201.0	193.0	196.0					11																	35513670		2202	4298	6500	SO:0001589	frameshift_variant	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35513670delC		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.302delG	11.37:g.35513670delC	ENSP00000368158:p.Gly101fs					PAMR1_ENST00000278360.3_Frame_Shift_Del_p.G101fs|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000378878.3_Frame_Shift_Del_p.G101fs|PAMR1_ENST00000532848.1_Frame_Shift_Del_p.G61fs	p.G101fs	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN			3	747	-			101					A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Frame_Shift_Del	DEL	ENST00000378880.2	37	c.302delG	CCDS31460.1																																																																																				0.517	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		9	1128						9	1128	---	---	---	---
CKAP5	9793	broad.mit.edu	37	11	46829683	46829683	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:46829683delT	ENST00000529230.1	-	8	922	c.876delA	c.(874-876)aaafs	p.K292fs	CKAP5_ENST00000354558.3_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000415402.1_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000312055.5_Frame_Shift_Del_p.K292fs			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	292					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCTCTTGCCATTTTTTTGCCT	0.363																																					Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1																			0				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(874-876)aafs		cytoskeleton associated protein 5							163.0	173.0	169.0					11																	46829683		2201	4299	6500	SO:0001589	frameshift_variant	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46829683delT		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.876delA	11.37:g.46829683delT	ENSP00000432768:p.Lys292fs					CKAP5_ENST00000354558.3_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000312055.5_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000415402.1_Frame_Shift_Del_p.K292fs	p.K292fs			Q14008	CKAP5_HUMAN			8	922	-			292					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Frame_Shift_Del	DEL	ENST00000529230.1	37	c.876delA	CCDS31477.1																																																																																				0.363	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		10	924						10	924	---	---	---	---
PGA3	643834	broad.mit.edu	37	11	60971045	60971047	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:60971045_60971047delGCT	ENST00000325558.6	+	1	194_196	c.9_11delGCT	c.(7-12)tggctg>tgg	p.L7del		NM_001079807.1	NP_001073275.1	P0DJD8	PEPA3_HUMAN	pepsinogen 3, group I (pepsinogen A)	7					digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(1)|lung(1)|ovary(1)|skin(2)	5						CCATGAAGTGGCTGCTGCTGCTG	0.567																																						ENST00000325558.6																			0				endometrium(1)|lung(1)|ovary(1)|skin(2)	5						c.(7-12)tgg>tg		pepsinogen 3, group I (pepsinogen A)																																				SO:0001651	inframe_deletion	643834							g.chr11:60971045_60971047delGCT	AL832946	CCDS31574.1	11q13	2006-12-13			ENSG00000229859	ENSG00000229859	3.4.23.1		8885	protein-coding gene	gene with protein product		169710				6300126	Standard	NM_001079807		Approved		uc001nqx.3	P0DJD8	OTTHUMG00000168071	ENST00000325558.6:c.9_11delGCT	11.37:g.60971054_60971056delGCT	ENSP00000322192:p.Leu7del						p.WL3del	NM_001079807.1	NP_001073275.1					1	194_196	+								A8K749|B2R7D6|B7ZW75|P00790|Q7M4R0|Q8N1E3	In_Frame_Del	DEL	ENST00000325558.6	37	c.9_11delGCT	CCDS31574.1																																																																																				0.567	PGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397955.2	NM_001079807		7	699						7	699	---	---	---	---
NOX4	50507	broad.mit.edu	37	11	89106662	89106663	+	Splice_Site	INS	-	-	A	rs548576417|rs552289081|rs56022003	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:89106662_89106663insA	ENST00000263317.4	-	12	1313		c.e12-2		NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000535633.1_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000532825.1_Splice_Site			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.?(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTTGGACACTAAAAAAAAATA	0.292													?|AAAAAAAAA|AAAAAAAAAA|unsure	31	0.0061901	0.0227	0.0014	5008	,	,		14064	0.0		0.0	False		,,,				2504	0.0					ENST00000535633.1																			1	Unknown(1)	p.?(1)	ovary(1)	NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44						c.e12-2		NADPH oxidase 4			,,	92,4164		2,88,2038					,,	5.2	1.0		dbSNP_129	80	7,8213		0,7,4103	no	splice-3,splice-3,splice-3	NOX4	NM_016931.3,NM_001143837.1,NM_001143836.1	,,	2,95,6141	A1A1,A1R,RR		0.0852,2.1617,0.7935	,,	,,		99,12377				SO:0001630	splice_region_variant	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89106662_89106663insA	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1075-2->T	11.37:g.89106671_89106671dupA						NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site		NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN			12	1313	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)						A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Splice_Site	INS	ENST00000263317.4	37		CCDS8285.1																																																																																				0.292	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931	Intron	14	760						14	760	---	---	---	---
DYRK4	8798	broad.mit.edu	37	12	4719362	4719362	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:4719362delA	ENST00000540757.2	+	11	1217	c.1057delA	c.(1057-1059)aaafs	p.K354fs	DYRK4_ENST00000545342.1_5'UTR|DYRK4_ENST00000543431.1_Frame_Shift_Del_p.K354fs|RP11-500M8.7_ENST00000536588.1_Intron|DYRK4_ENST00000010132.5_Frame_Shift_Del_p.K354fs	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	354	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			CAACAGGGGGAAAAAAAGATA	0.398																																						ENST00000540757.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(1057-1059)aafs		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4							108.0	105.0	106.0					12																	4719362		2203	4300	6503	SO:0001589	frameshift_variant	8798					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:4719362delA	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.1057delA	12.37:g.4719362delA	ENSP00000441755:p.Lys354fs					DYRK4_ENST00000010132.5_Frame_Shift_Del_p.K354fs|DYRK4_ENST00000545342.1_5'UTR|DYRK4_ENST00000543431.1_Frame_Shift_Del_p.K354fs	p.K354fs	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)		11	1217	+			354			Protein kinase.		A8K8F7|Q8NEF2|Q92631	Frame_Shift_Del	DEL	ENST00000540757.2	37	c.1057delA	CCDS8530.1																																																																																				0.398	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2			7	479						7	479	---	---	---	---
SCAF11	9169	broad.mit.edu	37	12	46318575	46318577	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:46318575_46318577delGGT	ENST00000369367.3	-	12	4073_4075	c.3840_3842delACC	c.(3838-3843)ccaccc>ccc	p.1280_1281PP>P	SCAF11_ENST00000465950.1_In_Frame_Del_p.965_966PP>P|SCAF11_ENST00000549162.1_In_Frame_Del_p.1088_1089PP>P|SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000419565.2_In_Frame_Del_p.1280_1281PP>P	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1280	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TGGGGGAGGGGGTGGTGGTGGTG	0.483																																						ENST00000465950.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(2893-2898)ccc>cc		SR-related CTD-associated factor 11																																				SO:0001651	inframe_deletion	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46318575_46318577delGGT	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.3840_3842delACC	12.37:g.46318584_46318586delGGT	ENSP00000358374:p.Pro1285del					SCAF11_ENST00000549162.1_In_Frame_Del_p.PP1092del|SCAF11_ENST00000369367.3_In_Frame_Del_p.PP1284del|SCAF11_ENST00000419565.2_In_Frame_Del_p.PP1284del	p.PP969del			Q99590	SCAFB_HUMAN			2	4104_4106	-			1284			Arg-rich.		A6NEU9|A6NLW5|Q8IW59	In_Frame_Del	DEL	ENST00000369367.3	37	c.2895_2897delACC	CCDS8748.2																																																																																				0.483	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		7	380						7	380	---	---	---	---
GLIPR1L2	144321	broad.mit.edu	37	12	75804255	75804255	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:75804255delA	ENST00000550916.1	+	2	323	c.276delA	c.(274-276)ggafs	p.G92fs	GLIPR1L2_ENST00000378692.3_5'UTR|GLIPR1L2_ENST00000441218.1_Frame_Shift_Del_p.G27fs|GLIPR1L2_ENST00000547164.1_Frame_Shift_Del_p.G92fs|GLIPR1L2_ENST00000320460.4_Frame_Shift_Del_p.G92fs|GLIPR1L2_ENST00000435775.1_Frame_Shift_Del_p.G92fs	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	92	SCP.					integral component of membrane (GO:0016021)				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						GAGCATGGGGAAAAAAATGTT	0.318																																						ENST00000550916.1																			0				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(274-276)ggfs		GLI pathogenesis-related 1 like 2				4,4260		0,4,2128	83.0	83.0	83.0			3.1	1.0	12		83	8,8244		2,4,4120	no	frameshift	GLIPR1L2	NM_152436.1		2,8,6248	A1A1,A1R,RR		0.0969,0.0938,0.0959			75804255	12,12504	2203	4299	6502	SO:0001589	frameshift_variant	144321					integral to membrane		g.chr12:75804255delA	BC029557	CCDS9010.1, CCDS58258.1	12q21.1	2014-06-03				ENSG00000180481			28592	protein-coding gene	gene with protein product		610394				12477932	Standard	NM_001270396		Approved	MGC39497	uc001sxr.2	Q4G1C9	OTTHUMG00000169756	ENST00000550916.1:c.276delA	12.37:g.75804255delA	ENSP00000448248:p.Gly92fs					GLIPR1L2_ENST00000320460.4_Frame_Shift_Del_p.G92fs|GLIPR1L2_ENST00000441218.1_Frame_Shift_Del_p.G27fs|GLIPR1L2_ENST00000547164.1_Frame_Shift_Del_p.G92fs|GLIPR1L2_ENST00000378692.3_5'UTR|GLIPR1L2_ENST00000435775.1_Frame_Shift_Del_p.G92fs	p.G92fs	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN			2	323	+			92					Q6MZS1|Q8N6N0|Q8NA43	Frame_Shift_Del	DEL	ENST00000550916.1	37	c.276delA	CCDS58258.1																																																																																				0.318	GLIPR1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405718.1	NM_152436		9	604						9	604	---	---	---	---
SYCP3	50511	broad.mit.edu	37	12	102122901	102122901	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:102122901delT	ENST00000392927.3	-	8	774	c.643delA	c.(643-645)attfs	p.I215fs	SYCP3_ENST00000266743.2_Frame_Shift_Del_p.I215fs|SYCP3_ENST00000392924.1_Frame_Shift_Del_p.I215fs	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	215	Gln-rich.				male meiosis I (GO:0007141)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TCCATCATAATTTTTTTTTGC	0.259																																						ENST00000392927.3																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11	GRCh37	CD035010	SYCP3	D		c.(643-645)ttfs		synaptonemal complex protein 3			,,	9,54,4181		1,0,7,9,36,2069	53.0	55.0	54.0		,,	4.2	1.0	12		55	10,59,8149		0,0,10,17,25,4057	no	codingComplex,codingComplex,codingComplex	SYCP3	NM_153694.4,NM_001177949.1,NM_001177948.1	,,	1,0,17,26,61,6126	A1A1,A1A2,A1R,A2A2,A2R,RR		0.8396,1.4844,1.0592	,,	,,	102122901	19,113,12330	2198	4284	6482	SO:0001589	frameshift_variant	50511				cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding	g.chr12:102122901delT	AF492003, AI075991	CCDS9087.1	12q23.2	2007-02-05			ENSG00000139351	ENSG00000139351			18130	protein-coding gene	gene with protein product		604759				12213195, 10854409	Standard	NM_153694		Approved		uc001tis.3	Q8IZU3	OTTHUMG00000150132	ENST00000392927.3:c.643delA	12.37:g.102122901delT	ENSP00000376658:p.Ile215fs					SYCP3_ENST00000392924.1_Frame_Shift_Del_p.I215fs|SYCP3_ENST00000266743.2_Frame_Shift_Del_p.I215fs	p.I215fs	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN			8	774	-			215			Gln-rich.			Frame_Shift_Del	DEL	ENST00000392927.3	37	c.643delA	CCDS9087.1																																																																																				0.259	SYCP3-001	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316478.2	NM_153694		9	400						9	400	---	---	---	---
HCFC2	29915	broad.mit.edu	37	12	104476535	104476535	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:104476535delA	ENST00000229330.4	+	7	1023	c.919delA	c.(919-921)aaafs	p.K308fs		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	308					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)	p.N309fs*32(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TCAGGAAGATAAAAAAAATTC	0.373																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)	ENST00000229330.4																			1	Deletion - Frameshift(1)	p.N309fs*32(1)	ovary(1)	breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						c.(919-921)aafs		host cell factor C2							66.0	68.0	67.0					12																	104476535		2203	4300	6503	SO:0001589	frameshift_variant	29915				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	g.chr12:104476535delA	AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.919delA	12.37:g.104476535delA	ENSP00000229330:p.Lys308fs						p.K308fs	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN			7	1023	+			308					B2R8Q5|C0H5X3	Frame_Shift_Del	DEL	ENST00000229330.4	37	c.919delA	CCDS9097.1																																																																																				0.373	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	NM_013320		8	528						8	528	---	---	---	---
RP11-597A11.1	0	broad.mit.edu	37	14	20121914	20121915	+	RNA	INS	-	-	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr14:20121914_20121915insA	ENST00000548261.1	+	0	245																											GCCTAAAAAAGAAAAAACAAAA	0.337																																						ENST00000548261.1																			0																																																			0							g.chr14:20121914_20121915insA																													14.37:g.20121920_20121920dupA														0	245	+									RNA	INS	ENST00000548261.1	37																																																																																						0.337	RP11-597A11.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409571.1			8	81						8	81	---	---	---	---
BAZ1A	11177	broad.mit.edu	37	14	35331422	35331423	+	Frame_Shift_Ins	INS	-	-	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr14:35331422_35331423insT	ENST00000382422.2	-	2	546_547	c.219_220insA	c.(217-222)aaagcafs	p.A74fs	BAZ1A_ENST00000358716.4_Frame_Shift_Ins_p.A74fs|BAZ1A_ENST00000360310.1_Frame_Shift_Ins_p.A74fs|BAZ1A_ENST00000553853.1_5'UTR			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	74	Required for association with the CHRAC1/POLE3 complex.|Required for interaction with NCOR1.|WAC. {ECO:0000255|PROSITE- ProRule:PRU00475}.				chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TTCTGTCTTGCTTTTTTTTCTG	0.426																																						ENST00000360310.1																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(217-222)aacaagfs		bromodomain adjacent to zinc finger domain, 1A																																				SO:0001589	frameshift_variant	11177				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	g.chr14:35331422_35331423insT	AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.220dupA	14.37:g.35331430_35331430dupT	ENSP00000371859:p.Ala74fs					BAZ1A_ENST00000382422.2_Frame_Shift_Ins_p.NK73fs|BAZ1A_ENST00000358716.4_Frame_Shift_Ins_p.NK73fs|BAZ1A_ENST00000553853.1_5'UTR	p.NK73fs	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)	3	786_787	-	Breast(36;0.0388)|Hepatocellular(127;0.158)		73			Required for association with the CHRAC1/POLE3 complex.|Required for interaction with NCOR1.|WAC.		Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Frame_Shift_Ins	INS	ENST00000382422.2	37	c.219_220insA	CCDS9651.1																																																																																				0.426	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1			9	781						9	781	---	---	---	---
FERMT2	10979	broad.mit.edu	37	14	53360081	53360082	+	Frame_Shift_Ins	INS	-	-	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr14:53360081_53360082insT	ENST00000395631.2	-	4	671_672	c.455_456insA	c.(454-456)aagfs	p.K152fs	FERMT2_ENST00000343279.4_Frame_Shift_Ins_p.K152fs|FERMT2_ENST00000553373.1_Frame_Shift_Ins_p.K152fs|FERMT2_ENST00000399304.3_Frame_Shift_Ins_p.K152fs|FERMT2_ENST00000341590.3_Frame_Shift_Ins_p.K152fs			Q96AC1	FERM2_HUMAN	fermitin family member 2	152					cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)	p.K152K(1)	ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					CTAGCTTCTTCTTTTTTTTCTT	0.381																																						ENST00000395631.2																		ERO1L/FERMT2(2)	1	Substitution - coding silent(1)	p.K152K(1)	endometrium(1)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(454-456)aaafs		fermitin family member 2																																				SO:0001589	frameshift_variant	10979				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding	g.chr14:53360081_53360082insT	Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15767	protein-coding gene	gene with protein product	"""kindlin-2"""	607746	"""pleckstrin homology domain containing, family C (with FERM domain) member 1"", ""fermitin family homolog 2 (Drosophila)"""	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.456dupA	14.37:g.53360089_53360089dupT	ENSP00000378993:p.Lys152fs					FERMT2_ENST00000399304.3_Frame_Shift_Ins_p.K152fs|FERMT2_ENST00000553373.1_Frame_Shift_Ins_p.K152fs|FERMT2_ENST00000341590.3_Frame_Shift_Ins_p.K152fs|FERMT2_ENST00000343279.4_Frame_Shift_Ins_p.K152fs	p.K152fs			Q96AC1	FERM2_HUMAN			4	671_672	-	Breast(41;0.0342)		152					B5TJY2|Q14840|Q86TY7	Frame_Shift_Ins	INS	ENST00000395631.2	37	c.455_456insA	CCDS9713.1																																																																																				0.381	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276907.2	NM_006832		8	601						8	601	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25319304	25319304	+	RNA	DEL	G	G	-	rs200554896		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr15:25319304delG	ENST00000549804.2	+	0	977				SNORD116-10_ENST00000363791.1_RNA|SNHG14_ENST00000551077.1_RNA|SNORD116-9_ENST00000384000.1_RNA|SNORD116-11_ENST00000383882.1_RNA|SNORD116-12_ENST00000384468.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		TTTTTTTTTTGGAAAGGTGAA	0.393																																						ENST00000549804.2																			0																				42.0	39.0	40.0					15																	25319304		875	1991	2866			0							g.chr15:25319304delG			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25319304delG						SNORD116-10_ENST00000363791.1_RNA								0	977	+									RNA	DEL	ENST00000549804.2	37																																																																																						0.393	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	processed_transcript	OTTHUMT00000408278.2			8	327						8	327	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28518115	28518115	+	Frame_Shift_Del	DEL	C	C	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr15:28518115delC	ENST00000261609.7	-	8	944	c.836delG	c.(835-837)ggafs	p.G279fs		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.G279V(1)|p.G279fs*25(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGGGATGCTTCCTGGCCCTTT	0.592																																						ENST00000261609.7																			2	Substitution - Missense(1)|Deletion - Frameshift(1)	p.G279V(1)|p.G279fs*25(1)	autonomic_ganglia(1)|breast(1)	NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(835-837)gafs		HECT and RLD domain containing E3 ubiquitin protein ligase 2							50.0	48.0	49.0					15																	28518115		2203	4300	6503	SO:0001589	frameshift_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28518115delC	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.836delG	15.37:g.28518115delC	ENSP00000261609:p.Gly279fs						p.G279fs	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	8	944	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	279						Frame_Shift_Del	DEL	ENST00000261609.7	37	c.836delG	CCDS10021.1																																																																																				0.592	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		9	245						9	245	---	---	---	---
NOX5	79400	broad.mit.edu	37	15	69328208	69328210	+	In_Frame_Del	DEL	CTG	CTG	-	rs370141395		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr15:69328208_69328210delCTG	ENST00000388866.3	+	7	1161_1163	c.1120_1122delCTG	c.(1120-1122)ctgdel	p.L380del	NOX5_ENST00000455873.3_In_Frame_Del_p.L345del|RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000448182.3_In_Frame_Del_p.L334del|NOX5_ENST00000260364.5_In_Frame_Del_p.L362del|NOX5_ENST00000530406.2_In_Frame_Del_p.L352del	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	380	Ferric oxidoreductase.|Poly-Leu.			L -> F (in Ref. 2; BAB84884/BAB84897, 3; BAB15319/BAG37241, 6; EAW77830 and 7; AAI25098/AAI25099). {ECO:0000305}.	angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						AGGTGTCGCTCTGCTGCTGCTGC	0.626																																						ENST00000260364.5																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1066-1068)del		NADPH oxidase, EF-hand calcium binding domain 5																																				SO:0001651	inframe_deletion	79400				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69328208_69328210delCTG	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.1120_1122delCTG	15.37:g.69328217_69328219delCTG	ENSP00000373518:p.Leu380del					NOX5_ENST00000455873.3_In_Frame_Del_p.L345del|NOX5_ENST00000530406.2_In_Frame_Del_p.L352del|NOX5_ENST00000448182.3_In_Frame_Del_p.L334del|NOX5_ENST00000388866.3_In_Frame_Del_p.L380del	p.L362del			Q96PH1	NOX5_HUMAN			8	1367_1369	+			380			Ferric oxidoreductase.		B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	In_Frame_Del	DEL	ENST00000388866.3	37	c.1066_1068delCTG	CCDS32276.2																																																																																				0.626	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		7	764						7	764	---	---	---	---
HNF1B	6928	broad.mit.edu	37	17	36091686	36091687	+	Frame_Shift_Ins	INS	-	-	AT	rs138337706		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:36091686_36091687insAT	ENST00000225893.4	-	4	1305_1306	c.944_945insAT	c.(943-945)atgfs	p.M315fs	HNF1B_ENST00000427275.2_Frame_Shift_Ins_p.M289fs|HNF1B_ENST00000560016.1_Frame_Shift_Ins_p.M315fs|HNF1B_ENST00000561193.1_Frame_Shift_Ins_p.M289fs	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	315					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TATAGGCGTCCATGGCCAGCTT	0.599																																					Colon(71;102 1179 9001 27917 43397)	ENST00000225893.4																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28						c.(943-945)agafs		HNF1 homeobox B																																				SO:0001589	frameshift_variant	6928				endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:36091686_36091687insAT	BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"""Homeoboxes / HNF class"""	11630	protein-coding gene	gene with protein product		189907	"""transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"""	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.943_944dupAT	17.37:g.36091687_36091688dupAT	ENSP00000225893:p.Met315fs					HNF1B_ENST00000561193.1_Frame_Shift_Ins_p.R289fs|HNF1B_ENST00000560016.1_Frame_Shift_Ins_p.R315fs|HNF1B_ENST00000427275.2_Frame_Shift_Ins_p.R289fs	p.R315fs	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	STAD - Stomach adenocarcinoma(1;0.0142)		4	1305_1306	-		Breast(25;0.00765)|Ovarian(249;0.15)	315					B4DKM3|E0YMJ9	Frame_Shift_Ins	INS	ENST00000225893.4	37	c.944_945insAT	CCDS11324.1																																																																																				0.599	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458		17	223						17	223	---	---	---	---
CCDC43	124808	broad.mit.edu	37	17	42756253	42756253	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:42756253delT	ENST00000315286.8	-	5	654	c.646delA	c.(646-648)aggfs	p.R216fs	CCDC43_ENST00000588210.1_Frame_Shift_Del_p.R219fs|CCDC43_ENST00000457422.2_3'UTR|C17orf104_ENST00000588805.1_Intron|RP11-1072C15.4_ENST00000591628.1_RNA	NM_144609.2	NP_653210.2	Q96MW1	CCD43_HUMAN	coiled-coil domain containing 43	216										lung(2)	2		Prostate(33;0.0322)				CTCTGTGTCCTTTTTTTTTCC	0.463																																						ENST00000315286.8																			0				lung(2)	2						c.(646-648)ggfs		coiled-coil domain containing 43							93.0	95.0	94.0					17																	42756253		1934	4131	6065	SO:0001589	frameshift_variant	124808							g.chr17:42756253delT	AK056357	CCDS45704.1, CCDS45705.1	17q21.31	2005-12-16							26472	protein-coding gene	gene with protein product						12477932	Standard	NM_001099225		Approved	FLJ31795	uc002ihc.2	Q96MW1		ENST00000315286.8:c.646delA	17.37:g.42756253delT	ENSP00000323782:p.Arg216fs					CCDC43_ENST00000588210.1_Frame_Shift_Del_p.R219fs|C17orf104_ENST00000588805.1_Intron|CCDC43_ENST00000457422.2_3'UTR	p.R216fs	NM_144609.2	NP_653210.2	Q96MW1	CCD43_HUMAN			5	654	-		Prostate(33;0.0322)	216					C9JVK9	Frame_Shift_Del	DEL	ENST00000315286.8	37	c.646delA	CCDS45704.1																																																																																				0.463	CCDC43-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457812.1	NM_144609		8	173						8	173	---	---	---	---
RNF43	54894	broad.mit.edu	37	17	56435356	56435356	+	Frame_Shift_Del	DEL	G	G	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:56435356delG	ENST00000584437.1	-	8	3736	c.1781delC	c.(1780-1782)cctfs	p.P594fs	RNF43_ENST00000577716.1_Frame_Shift_Del_p.P594fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000583753.1_Frame_Shift_Del_p.P553fs|RNF43_ENST00000581868.1_Frame_Shift_Del_p.P467fs|RNF43_ENST00000500597.2_Frame_Shift_Del_p.P553fs|RNF43_ENST00000407977.2_Frame_Shift_Del_p.P594fs|RNF43_ENST00000577625.1_Frame_Shift_Del_p.P467fs			Q68DV7	RNF43_HUMAN	ring finger protein 43	594	Pro-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTGCTGATCAGGAGAAGGTGG	0.652																																						ENST00000584437.1																			0				NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(1780-1782)ctfs		ring finger protein 43							65.0	77.0	73.0					17																	56435356		2201	4300	6501	SO:0001589	frameshift_variant	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56435356delG		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1781delC	17.37:g.56435356delG	ENSP00000463069:p.Pro594fs					RNF43_ENST00000581868.1_Frame_Shift_Del_p.P467fs|RNF43_ENST00000577716.1_Frame_Shift_Del_p.P594fs|RNF43_ENST00000583753.1_Frame_Shift_Del_p.P553fs|RNF43_ENST00000407977.2_Frame_Shift_Del_p.P594fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577625.1_Frame_Shift_Del_p.P467fs|RNF43_ENST00000500597.2_Frame_Shift_Del_p.P553fs	p.P594fs			Q68DV7	RNF43_HUMAN			8	3736	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		594			Pro-rich.		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Frame_Shift_Del	DEL	ENST00000584437.1	37	c.1781delC	CCDS11607.1																																																																																				0.652	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		53	413						53	413	---	---	---	---
LRRC37A16P	651250	broad.mit.edu	37	17	66141031	66141032	+	RNA	DEL	AC	AC	-	rs76883902|rs556277766|rs372081386|rs370970351	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:66141031_66141032delAC	ENST00000590019.1	-	0	70									leucine rich repeat containing 37, member A16, pseudogene																		AAAAAAAAAAACATAAGCCAAA	0.337																																						ENST00000590019.1																			0																																																			0							g.chr17:66141031_66141032delAC			17q24.2	2012-10-18				ENSG00000267023			43820	pseudogene	pseudogene							Standard	NG_023507		Approved				OTTHUMG00000180160		17.37:g.66141031_66141032delAC														0	70	-									RNA	DEL	ENST00000590019.1	37																																																																																						0.337	LRRC37A16P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000450078.1			7	243						7	243	---	---	---	---
OSBPL1A	114876	broad.mit.edu	37	18	21750331	21750331	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr18:21750331delT	ENST00000319481.3	-	24	2584	c.2378delA	c.(2377-2379)aatfs	p.N793fs	OSBPL1A_ENST00000399443.3_Frame_Shift_Del_p.N280fs|OSBPL1A_ENST00000357041.4_Frame_Shift_Del_p.N411fs|RNA5SP452_ENST00000363004.1_RNA	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	793					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TTTCTTATCATTTTTTTTGTA	0.393																																						ENST00000319481.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(2377-2379)atfs		oxysterol binding protein-like 1A							259.0	233.0	242.0					18																	21750331		2203	4300	6503	SO:0001589	frameshift_variant	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21750331delT	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.2378delA	18.37:g.21750331delT	ENSP00000320291:p.Asn793fs					OSBPL1A_ENST00000399443.3_Frame_Shift_Del_p.N280fs|OSBPL1A_ENST00000357041.4_Frame_Shift_Del_p.N411fs	p.N793fs	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN			24	2584	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		793					B7Z7D3|Q9BZF5|Q9NW87	Frame_Shift_Del	DEL	ENST00000319481.3	37	c.2378delA	CCDS11884.1																																																																																				0.393	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		9	883						9	883	---	---	---	---
OR7E24	26648	broad.mit.edu	37	19	9361741	9361741	+	Frame_Shift_Del	DEL	T	T	-	rs201985790		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:9361741delT	ENST00000456448.1	+	1	136	c.22delT	c.(22-24)tttfs	p.F11fs		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TCCAATTCTCTTTTTTTTTTT	0.388																																						ENST00000456448.1																			0				endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						c.(22-24)ttfs		olfactory receptor, family 7, subfamily E, member 24							49.0	50.0	50.0					19																	9361741		1897	4135	6032	SO:0001589	frameshift_variant	26648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9361741delT	Y10529	CCDS45955.1	19p13.2	2012-08-09	2004-03-04	2004-03-05		ENSG00000237521		"""GPCR / Class A : Olfactory receptors"""	8396	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily E, member 24 pseudogene"""	OR7E24P		9268701	Standard	NM_001079935		Approved	OR19-8, HSHT2, OR7E24Q	uc002mlb.1	Q6IFN5		ENST00000456448.1:c.22delT	19.37:g.9361741delT	ENSP00000387523:p.Phe11fs						p.F11fs	NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN			1	136	+			11					B9EJD9|Q9UPJ1	Frame_Shift_Del	DEL	ENST00000456448.1	37	c.22delT	CCDS45955.1																																																																																				0.388	OR7E24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449006.1			8	50						8	50	---	---	---	---
LILRB1	10859	broad.mit.edu	37	19	55146148	55146150	+	In_Frame_Del	DEL	CTC	CTC	-	rs543059448	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:55146148_55146150delCTC	ENST00000396331.1	+	11	1774_1776	c.1417_1419delCTC	c.(1417-1419)ctcdel	p.L479del	LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	479					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAtcctactgctcctcctcctcc	0.581										HNSCC(37;0.09)				8	0.00159744	0.0023	0.0014	5008	,	,		18237	0.002		0.001	False		,,,				2504	0.001					ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(1417-1419)del		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1			,,,	21,4241		0,21,2110					,,,	0.7	0.0			137	49,8205		0,49,4078	no	coding,coding,coding,coding	LILRB1	NM_006669.3,NM_001081639.1,NM_001081638.1,NM_001081637.1	,,,	0,70,6188	A1A1,A1R,RR		0.5937,0.4927,0.5593	,,,	,,,		70,12446				SO:0001651	inframe_deletion	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55146148_55146150delCTC	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1417_1419delCTC	19.37:g.55146157_55146159delCTC	ENSP00000379622:p.Leu479del	HNSCC(37;0.09)				LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del	p.L479del	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	11	1774_1776	+			479					A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	In_Frame_Del	DEL	ENST00000396331.1	37	c.1417_1419delCTC	CCDS42617.1																																																																																				0.581	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			7	241						7	241	---	---	---	---
CHGB	1114	broad.mit.edu	37	20	5903283	5903285	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr20:5903283_5903285delGAG	ENST00000378961.4	+	4	697_699	c.493_495delGAG	c.(493-495)gagdel	p.E169del		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	169	Poly-Glu.					extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAGAGAGGATGAGGAGGAGGAGG	0.532																																						ENST00000378961.4																			0				breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						c.(493-495)del		chromogranin B (secretogranin 1)																																				SO:0001651	inframe_deletion	1114					extracellular region	hormone activity	g.chr20:5903283_5903285delGAG		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.493_495delGAG	20.37:g.5903292_5903294delGAG	ENSP00000368244:p.Glu169del						p.E169del	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN			4	697_699	+			169			Poly-Glu.		A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	In_Frame_Del	DEL	ENST00000378961.4	37	c.493_495delGAG	CCDS13092.1																																																																																				0.532	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		8	236						8	236	---	---	---	---
ZMYND8	23613	broad.mit.edu	37	20	45875072	45875072	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr20:45875072delT	ENST00000311275.7	-	14	2157	c.1904delA	c.(1903-1905)aagfs	p.K635fs	ZMYND8_ENST00000360911.3_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000446994.2_Frame_Shift_Del_p.K572fs|ZMYND8_ENST00000372023.3_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000540497.1_Frame_Shift_Del_p.K583fs|ZMYND8_ENST00000352431.2_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000461685.1_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000471951.2_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000458360.2_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000396281.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000355972.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000536340.1_Frame_Shift_Del_p.K662fs|ZMYND8_ENST00000262975.4_Frame_Shift_Del_p.K635fs	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	635					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			AGGCTTGGGCTTTTTTTTAAC	0.488																																						ENST00000311275.7																			0				NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62						c.(1903-1905)agfs		zinc finger, MYND-type containing 8							203.0	199.0	200.0					20																	45875072		2203	4300	6503	SO:0001589	frameshift_variant	23613						protein binding|zinc ion binding	g.chr20:45875072delT	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.1904delA	20.37:g.45875072delT	ENSP00000312237:p.Lys635fs					ZMYND8_ENST00000355972.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000446994.2_Frame_Shift_Del_p.K572fs|ZMYND8_ENST00000360911.3_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000461685.1_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000352431.2_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000458360.2_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000396281.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000540497.1_Frame_Shift_Del_p.K583fs|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000536340.1_Frame_Shift_Del_p.K662fs|ZMYND8_ENST00000262975.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000471951.2_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000372023.3_Frame_Shift_Del_p.K630fs	p.K635fs			Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		14	2157	-			635					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Frame_Shift_Del	DEL	ENST00000311275.7	37	c.1904delA																																																																																					0.488	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		7	934						7	934	---	---	---	---
BCOR	54880	broad.mit.edu	37	X	39934126	39934127	+	Frame_Shift_Ins	INS	-	-	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:39934126_39934127insT	ENST00000378444.4	-	4	700_701	c.472_473insA	c.(472-474)agtfs	p.S158fs	BCOR_ENST00000397354.3_Frame_Shift_Ins_p.S158fs|BCOR_ENST00000378455.4_Frame_Shift_Ins_p.S158fs|BCOR_ENST00000342274.4_Frame_Shift_Ins_p.S158fs	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	158					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGCTACAGCACTTTTTTGTATT	0.535			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"""F, N, S, T"""	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"""retinoblastoma, AML, APL(translocation)"""		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(472-474)tgcfs		BCL6 corepressor																																				SO:0001589	frameshift_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39934126_39934127insT	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.473dupA	X.37:g.39934132_39934132dupT	ENSP00000367705:p.Ser158fs					BCOR_ENST00000397354.3_Frame_Shift_Ins_p.C158fs|BCOR_ENST00000378455.4_Frame_Shift_Ins_p.C158fs|BCOR_ENST00000378444.4_Frame_Shift_Ins_p.C158fs	p.C158fs	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			4	834_835	-			158					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Frame_Shift_Ins	INS	ENST00000378444.4	37	c.472_473insA	CCDS48093.1																																																																																				0.535	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		169	319						169	319	---	---	---	---
SHROOM4	57477	broad.mit.edu	37	X	50350711	50350713	+	In_Frame_Del	DEL	TCC	TCC	-	rs6614551		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:50350711_50350713delTCC	ENST00000289292.7	-	6	3712_3714	c.3429_3431delGGA	c.(3427-3432)gaggaa>gaa	p.1143_1144EE>E	SHROOM4_ENST00000376020.2_In_Frame_Del_p.1143_1144EE>E|SHROOM4_ENST00000460112.3_In_Frame_Del_p.1027_1028EE>E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1143	Glu-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ctcttcctcttcctcttcttctt	0.547																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(3427-3432)gaa>ga		shroom family member 4																																				SO:0001651	inframe_deletion	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50350711_50350713delTCC	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3429_3431delGGA	X.37:g.50350711_50350713delTCC	ENSP00000289292:p.Glu1151del					SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1033del|SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1149del	p.EE1149del	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			6	3454_3456	-	Ovarian(276;0.236)		1149			Glu-rich.		A7E2X9|D6RFW0|Q96LA0	In_Frame_Del	DEL	ENST00000289292.7	37	c.3429_3431delGGA	CCDS35277.1																																																																																				0.547	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		7	73						7	73	---	---	---	---
LINC01278	92249	broad.mit.edu	37	X	62733822	62733823	+	RNA	INS	-	-	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:62733822_62733823insT	ENST00000609401.1	-	0	335					NR_015353.1																						gaacaactttgtgatagcccac	0.406																																						ENST00000433061.1																			0																																																			0							g.chrX:62733822_62733823insT																													X.37:g.62733823_62733823dupT														0	391	-									RNA	INS	ENST00000609401.1	37																																																																																						0.406	RP11-357C3.3-003	KNOWN	basic	sense_overlapping	processed_transcript	OTTHUMT00000471675.1			7	8						7	8	---	---	---	---
GUCY2F	2986	broad.mit.edu	37	X	108619355	108619355	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:108619355delT	ENST00000218006.2	-	18	3483	c.3192delA	c.(3190-3192)aaafs	p.K1064fs		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1064					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TCATGAAGCCTTTTTTCCCAA	0.418																																						ENST00000218006.2																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						c.(3190-3192)aafs		guanylate cyclase 2F, retinal							171.0	156.0	161.0					X																	108619355		2203	4300	6503	SO:0001589	frameshift_variant	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108619355delT	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.3192delA	X.37:g.108619355delT	ENSP00000218006:p.Lys1064fs						p.K1064fs	NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN			18	3483	-			1064					Q9UJF1	Frame_Shift_Del	DEL	ENST00000218006.2	37	c.3192delA	CCDS14545.1																																																																																				0.418	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		8	1093						8	1093	---	---	---	---
PAK3	5063	broad.mit.edu	37	X	110406206	110406208	+	In_Frame_Del	DEL	GAA	GAA	-	rs374572591		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:110406206_110406208delGAA	ENST00000372010.1	+	10	1019_1021	c.577_579delGAA	c.(577-579)gaadel	p.E197del	PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000519681.1_In_Frame_Del_p.E203del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000372007.5_In_Frame_Del_p.E182del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000518291.1_In_Frame_Del_p.E218del			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	197	Linker.|Poly-Glu.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						agatgaagaggaagaagaagaag	0.394										TSP Lung(19;0.15)																												ENST00000519681.1																			0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(595-597)del		p21 protein (Cdc42/Rac)-activated kinase 3																																				SO:0001651	inframe_deletion	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110406206_110406208delGAA	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.577_579delGAA	X.37:g.110406215_110406217delGAA	ENSP00000361080:p.Glu197del	TSP Lung(19;0.15)				PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000372010.1_In_Frame_Del_p.E197del|PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000372007.4_In_Frame_Del_p.E182del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del	p.E203del			O75914	PAK3_HUMAN			10	1037_1039	+			197			Linker.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	In_Frame_Del	DEL	ENST00000372010.1	37	c.595_597delGAA	CCDS48153.1																																																																																				0.394	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		9	739						9	739	---	---	---	---
CD99L2	83692	broad.mit.edu	37	X	149984524	149984526	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:149984524_149984526delGTG	ENST00000370377.3	-	3	273_275	c.156_158delCAC	c.(154-159)accaca>aca	p.52_53TT>T	CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000437787.2_In_Frame_Del_p.52_53TT>T|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000346693.4_5'UTR	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	52	Poly-Thr.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTATTGGTTGTGGTGGTGGTGG	0.552																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(154-159)aca>ac		CD99 molecule-like 2																																				SO:0001651	inframe_deletion	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149984524_149984526delGTG	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"""MIC2 like 1"", ""CD99 antigen-like 2"""	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.156_158delCAC	X.37:g.149984533_149984535delGTG	ENSP00000359403:p.Thr54del					CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000346693.4_5'UTR	p.TT52del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			3	273_275	-	Acute lymphoblastic leukemia(192;6.56e-05)		52			Poly-Thr.		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	In_Frame_Del	DEL	ENST00000370377.3	37	c.156_158delCAC	CCDS35427.1																																																																																				0.552	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		10	989						10	989	---	---	---	---
