#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
MUC16	94025	broad.mit.edu	37	19	9058191	9058191	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr19:9058191G>A	ENST00000397910.4	-	3	29458	c.29255C>T	c.(29254-29256)tCc>tTc	p.S9752F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9754	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						AAGAGGAGAGGAGGGGCTACT	0.473																																						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.(29254-29256)tCc>tTc		mucin 16, cell surface associated							62.0	59.0	60.0					19																	9058191		1946	4148	6094	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9058191G>A	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.29255C>T	19.37:g.9058191G>A	ENSP00000381008:p.Ser9752Phe						p.S9752F	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	29458	-			9754			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.29255C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.758	0.324330	0.10900	.	.	ENSG00000181143	ENST00000397910	T	0.30182	1.54	2.94	1.88	0.25563	.	.	.	.	.	T	0.22627	0.0546	L	0.29908	0.895	.	.	.	P	0.45126	0.851	B	0.43225	0.412	T	0.25152	-1.0140	8	0.87932	D	0	.	6.1231	0.20164	0.1449:0.0:0.8551:0.0	.	9752	B5ME49	.	F	9752	ENSP00000381008:S9752F	ENSP00000381008:S9752F	S	-	2	0	MUC16	8919191	0.086000	0.21541	0.003000	0.11579	0.034000	0.12701	0.978000	0.29488	0.789000	0.33779	0.650000	0.86243	TCC		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		7	27	0	0	0	1	0	7	27				
COL3A1	1281	broad.mit.edu	37	2	189873659	189873659	+	Missense_Mutation	SNP	G	G	A	rs587779574		TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr2:189873659G>A	ENST00000304636.3	+	48	3705	c.3535G>A	c.(3535-3537)Ggc>Agc	p.G1179S	COL3A1_ENST00000317840.5_Missense_Mutation_p.G876S	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1179	Triple-helical region.		G -> R (in EDS4).		aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	GGGCTCCCCAGGCCACCCAGG	0.522																																						ENST00000304636.3																			0				NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126	GRCh37	CM970363	COL3A1	M		c.(3535-3537)Ggc>Agc		collagen, type III, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						62.0	71.0	68.0					2																	189873659		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189873659G>A	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.3535G>A	2.37:g.189873659G>A	ENSP00000304408:p.Gly1179Ser					COL3A1_ENST00000317840.5_Missense_Mutation_p.G876S	p.G1179S	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		48	3705	+			1179		G -> R (in EDS4).	Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.3535G>A	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.670921	0.88348	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.99607	-6.27;-6.27	5.54	5.54	0.83059	.	0.000000	0.52532	D	0.000070	D	0.99789	0.9911	H	0.96398	3.815	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.97169	0.9843	10	0.72032	D	0.01	.	19.0887	0.93217	0.0:0.0:1.0:0.0	.	1179	P02461	CO3A1_HUMAN	S	1179;876	ENSP00000304408:G1179S;ENSP00000315243:G876S	ENSP00000304408:G1179S	G	+	1	0	COL3A1	189581904	1.000000	0.71417	0.984000	0.44739	0.996000	0.88848	8.230000	0.89793	2.601000	0.87937	0.655000	0.94253	GGC		0.522	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		21	72	0	0	0	1	0	21	72				
NBPF10	100132406	broad.mit.edu	37	1	145296373	145296373	+	Missense_Mutation	SNP	G	G	T	rs3969711	byFrequency	TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr1:145296373G>T	ENST00000342960.5	+	3	330	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	99						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.V99F(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)		TAAAGTCCTAGTTCACTCTCA	0.473																																						ENST00000342960.5																			1	Substitution - Missense(1)	p.V99F(1)	kidney(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.(295-297)Gtt>Ttt		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145296373G>T	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.295G>T	1.37:g.145296373G>T	ENSP00000345684:p.Val99Phe					RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.V99F	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	3	330	+	all_hematologic(923;0.032)		99					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.295G>T	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	10.07	1.249076	0.22880	.	.	ENSG00000163386	ENST00000369339;ENST00000448873;ENST00000342960	T	0.03889	3.77	1.15	-0.158	0.13383	.	.	.	.	.	T	0.03220	0.0094	M	0.72479	2.2	0.09310	N	1	.	.	.	.	.	.	T	0.38757	-0.9646	7	0.87932	D	0	.	3.0726	0.06236	0.7069:0.0:0.2931:0.0	rs3969711;rs4996270	.	.	.	F	99;24;99	ENSP00000345684:V99F	ENSP00000345684:V99F	V	+	1	0	NBPF10	144007730	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.057000	0.14279	-0.026000	0.13895	0.121000	0.15741	GTT		0.473	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		5	202	1	0	0.00307968	1	0.00313188	5	202				
PTEN	5728	broad.mit.edu	37	10	89720852	89720852	+	Nonsense_Mutation	SNP	C	C	T	rs121909231		TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr10:89720852C>T	ENST00000371953.3	+	8	2360	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	335	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R335*(25)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R335G(1)|p.W274_F341del(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAAAGCCAACCGATACTTTTC	0.333		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		77	Whole gene deletion(37)|Substitution - Nonsense(25)|Deletion - Frameshift(9)|Deletion - In frame(3)|Unknown(2)|Substitution - Missense(1)	p.0?(37)|p.R335*(25)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R335G(1)|p.W274_F341del(1)|p.D326_K342del(1)	central_nervous_system(25)|prostate(16)|skin(8)|haematopoietic_and_lymphoid_tissue(7)|endometrium(6)|lung(4)|breast(3)|ovary(3)|urinary_tract(2)|upper_aerodigestive_tract(1)|stomach(1)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM971278	PTEN	M	rs121909231	c.(1003-1005)Cga>Tga		phosphatase and tensin homolog							60.0	63.0	62.0					10																	89720852		2203	4298	6501	SO:0001587	stop_gained	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720852C>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.1003C>T	10.37:g.89720852C>T	ENSP00000361021:p.Arg335*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_ENST00000472832.1_3'UTR	p.R335*	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	8	2360	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	335			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.1003C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	48	14.209601	0.99784	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.37	4.39	0.52855	.	0.053988	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4934	12.825	0.57714	0.2831:0.7169:0.0:0.0	.	.	.	.	X	335	.	.	R	+	1	2	PTEN	89710832	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.629000	0.46485	2.516000	0.84829	0.591000	0.81541	CGA		0.333	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		9	56	0	0	0	1	0	9	56				
THEM5	284486	broad.mit.edu	37	1	151823573	151823573	+	Silent	SNP	C	C	T			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr1:151823573C>T	ENST00000368817.5	-	3	551	c.420G>A	c.(418-420)tcG>tcA	p.S140S	AL450992.2_ENST00000434182.1_RNA	NM_182578.3	NP_872384	Q8N1Q8	ACO15_HUMAN	thioesterase superfamily member 5	140					cardiolipin acyl-chain remodeling (GO:0035965)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)	mitochondrial matrix (GO:0005759)	palmitoyl-CoA hydrolase activity (GO:0016290)	p.S140S(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAAGACAGACCGACTTCTTCT	0.567																																						ENST00000368817.5																			1	Substitution - coding silent(1)	p.S140S(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15						c.(418-420)tcG>tcA		thioesterase superfamily member 5							96.0	84.0	88.0					1																	151823573		2203	4300	6503	SO:0001819	synonymous_variant	284486						hydrolase activity	g.chr1:151823573C>T	AK095283	CCDS1005.1	1q21.3	2008-02-05			ENSG00000196407	ENSG00000196407			26755	protein-coding gene	gene with protein product		615653					Standard	NM_182578		Approved	FLJ37964	uc021oyw.1	Q8N1Q8	OTTHUMG00000013070	ENST00000368817.5:c.420G>A	1.37:g.151823573C>T							p.S140S	NM_182578.3	NP_872384.1	Q8N1Q8	THEM5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		3	551	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		140					Q5T1C3	Silent	SNP	ENST00000368817.5	37	c.420G>A	CCDS1005.1	.	.	.	.	.	.	.	.	.	.	C	0.579	-0.837710	0.02692	.	.	ENSG00000196407	ENST00000453881	.	.	.	5.91	-11.8	0.00035	.	.	.	.	.	T	0.13030	0.0316	.	.	.	0.36872	D	0.888955	.	.	.	.	.	.	T	0.52260	-0.8599	4	.	.	.	-2.4985	3.0193	0.06070	0.5055:0.1225:0.0741:0.2978	.	.	.	.	Q	87	.	.	R	-	2	0	THEM5	150090197	0.000000	0.05858	0.002000	0.10522	0.228000	0.25075	-3.710000	0.00387	-4.767000	0.00033	-1.959000	0.00480	CGG		0.567	THEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036678.2	NM_182578		6	39	0	0	0	1	0	6	39				
ROS1	6098	broad.mit.edu	37	6	117704649	117704649	+	Missense_Mutation	SNP	G	G	A	rs149313880		TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr6:117704649G>A	ENST00000368508.3	-	16	2525	c.2327C>T	c.(2326-2328)aCg>aTg	p.T776M	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.T771M	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	776					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TGTGTGTCCCGTCAACACAGA	0.383			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								G|||	1	0.000199681	0.0	0.0014	5008	,	,		20522	0.0		0.0	False		,,,				2504	0.0					ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(2326-2328)aCg>aTg		c-ros oncogene 1 , receptor tyrosine kinase		G	MET/THR	0,4406		0,0,2203	184.0	165.0	172.0		2327	4.6	1.0	6	dbSNP_134	172	3,8597	3.7+/-12.6	0,3,4297	yes	missense	ROS1	NM_002944.2	81	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	776/2348	117704649	3,13003	2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117704649G>A	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.2327C>T	6.37:g.117704649G>A	ENSP00000357494:p.Thr776Met					GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.T771M	p.T776M	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	16	2525	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	776					Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.2327C>T	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.823333	0.50739	0.0	3.49E-4	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.92446	-3.04;-3.04	4.57	4.57	0.56435	.	0.225037	0.31082	N	0.008287	D	0.89012	0.6594	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.91342	0.5098	10	0.72032	D	0.01	.	11.5121	0.50498	0.0:0.197:0.803:0.0	.	776	P08922	ROS1_HUMAN	M	776;771	ENSP00000357494:T776M;ENSP00000357493:T771M	ENSP00000357493:T771M	T	-	2	0	ROS1	117811342	0.987000	0.35691	0.998000	0.56505	0.700000	0.40528	2.963000	0.49184	2.260000	0.74910	0.655000	0.94253	ACG		0.383	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			39	87	0	0	0	1	0	39	87				
TRIM42	287015	broad.mit.edu	37	3	140397391	140397391	+	Missense_Mutation	SNP	G	G	A	rs146449412	byFrequency	TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr3:140397391G>A	ENST00000286349.3	+	1	511	c.320G>A	c.(319-321)cGc>cAc	p.R107H		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	107						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CACAAGGGCCGCCTCAGGAGC	0.552													G|||	3	0.000599042	0.0023	0.0	5008	,	,		18180	0.0		0.0	False		,,,				2504	0.0					ENST00000286349.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(319-321)cGc>cAc		tripartite motif containing 42		G	HIS/ARG	2,4352		0,2,2175	27.0	27.0	27.0		320	4.8	1.0	3	dbSNP_134	27	1,8493		0,1,4246	no	missense	TRIM42	NM_152616.4	29	0,3,6421	AA,AG,GG		0.0118,0.0459,0.0233	probably-damaging	107/724	140397391	3,12845	2177	4247	6424	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140397391G>A	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.320G>A	3.37:g.140397391G>A	ENSP00000286349:p.Arg107His						p.R107H	NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN			1	511	+			107					A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.320G>A	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.239888	0.58995	4.59E-4	1.18E-4	ENSG00000155890	ENST00000286349	T	0.19806	2.12	4.75	4.75	0.60458	.	0.108834	0.41823	D	0.000818	T	0.22085	0.0532	L	0.29908	0.895	0.36902	D	0.890456	D	0.60160	0.987	P	0.48166	0.569	T	0.09357	-1.0678	10	0.87932	D	0	-14.7066	13.9895	0.64357	0.0:0.0:1.0:0.0	.	107	Q8IWZ5	TRI42_HUMAN	H	107	ENSP00000286349:R107H	ENSP00000286349:R107H	R	+	2	0	TRIM42	141880081	0.991000	0.36638	1.000000	0.80357	0.369000	0.29798	1.585000	0.36600	2.563000	0.86464	0.655000	0.94253	CGC		0.552	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		9	27	0	0	0	1	0	9	27				
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C	rs368458790		TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552																																						ENST00000566806.1																			0																																																			0							g.chr16:32070612A>C																													16.37:g.32070612A>C														0	499	-									RNA	SNP	ENST00000566806.1	37																																																																																						0.552	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			3	54	0	0	0	1	0	3	54				
GJA10	84694	broad.mit.edu	37	6	90605138	90605138	+	Silent	SNP	T	T	C			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr6:90605138T>C	ENST00000369352.1	+	1	951	c.951T>C	c.(949-951)aaT>aaC	p.N317N	Y_RNA_ENST00000517082.1_RNA	NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	0					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		ACCCTTCCAATGGGAAAAAGG	0.502																																						ENST00000369352.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37						c.(949-951)aaT>aaC		gap junction protein, alpha 10, 62kDa							71.0	68.0	69.0					6																	90605138		2203	4300	6503	SO:0001819	synonymous_variant	84694				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr6:90605138T>C	AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"""Ion channels / Gap junction proteins (connexins)"""	16995	protein-coding gene	gene with protein product	"""connexin 62"""	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.951T>C	6.37:g.90605138T>C							p.N317N	NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0915)	1	951	+		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)	317					B2R722|B3KVQ2|Q5TA63|Q96KG0	Silent	SNP	ENST00000369352.1	37	c.951T>C	CCDS5025.1																																																																																				0.502	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041505.1	NM_032602		11	26	0	0	0	1	0	11	26				
TTC22	55001	broad.mit.edu	37	1	55251700	55251700	+	Nonsense_Mutation	SNP	G	G	A	rs540310870		TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr1:55251700G>A	ENST00000371276.4	-	5	1079	c.976C>T	c.(976-978)Cga>Tga	p.R326*	TTC22_ENST00000371274.4_Nonsense_Mutation_p.R326*	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	326										kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						TCTGGATCTCGTAGGACATCC	0.542													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19266	0.0		0.0	False		,,,				2504	0.0					ENST00000371276.4																			0				kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						c.(976-978)Cga>Tga		tetratricopeptide repeat domain 22							85.0	76.0	79.0					1																	55251700		2203	4300	6503	SO:0001587	stop_gained	55001						binding	g.chr1:55251700G>A	AK000626	CCDS598.1, CCDS44152.1	1p32.3	2013-01-11			ENSG00000006555	ENSG00000006555		"""Tetratricopeptide (TTC) repeat domain containing"""	26067	protein-coding gene	gene with protein product							Standard	NM_017904		Approved	FLJ20619	uc009vzt.1	Q5TAA0	OTTHUMG00000009916	ENST00000371276.4:c.976C>T	1.37:g.55251700G>A	ENSP00000360323:p.Arg326*					TTC22_ENST00000371274.4_Nonsense_Mutation_p.R326*	p.R326*	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN			5	1079	-			326					Q9NWT4	Nonsense_Mutation	SNP	ENST00000371276.4	37	c.976C>T	CCDS44152.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.074518	0.76415	.	.	ENSG00000006555	ENST00000371276;ENST00000371274;ENST00000448308	.	.	.	4.16	-0.755	0.11061	.	0.677027	0.13787	N	0.362805	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-19.7321	9.9746	0.41774	0.0:0.3926:0.4637:0.1438	.	.	.	.	X	326;326;107	.	ENSP00000360321:R326X	R	-	1	2	TTC22	55024288	0.477000	0.25909	0.009000	0.14445	0.762000	0.43233	2.906000	0.48735	0.005000	0.14708	0.462000	0.41574	CGA		0.542	TTC22-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027438.1	NM_017904		11	28	0	0	0	1	0	11	28				
SLC28A1	9154	broad.mit.edu	37	15	85476483	85476483	+	Silent	SNP	G	G	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr15:85476483G>A	ENST00000286749.3	+	12	1281	c.1191G>A	c.(1189-1191)gaG>gaA	p.E397E	SLC28A1_ENST00000537624.1_Silent_p.E397E|SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000537216.1_Silent_p.E397E|SLC28A1_ENST00000394573.1_Silent_p.E397E			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	397					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	TTAGGAGGGAGGAAGGAGTGA	0.592																																						ENST00000394573.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(1189-1191)gaG>gaA		solute carrier family 28 (concentrative nucleoside transporter), member 1							116.0	95.0	102.0					15																	85476483		2203	4299	6502	SO:0001819	synonymous_variant	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85476483G>A	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"""Solute carriers"""	11001	protein-coding gene	gene with protein product		606207	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"""			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.1191G>A	15.37:g.85476483G>A						SLC28A1_ENST00000286749.3_Silent_p.E397E|SLC28A1_ENST00000537216.1_Silent_p.E397E|SLC28A1_ENST00000537624.1_Silent_p.E397E|SLC28A1_ENST00000538177.1_Intron	p.E397E	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		13	1393	+			397					A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Silent	SNP	ENST00000286749.3	37	c.1191G>A	CCDS10334.1																																																																																				0.592	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			8	57	0	0	0	1	0	8	57				
CCR9	10803	broad.mit.edu	37	3	45943164	45943164	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr3:45943164T>C	ENST00000357632.2	+	3	1064	c.884T>C	c.(883-885)aTt>aCt	p.I295T	LZTFL1_ENST00000536047.1_Intron|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000355983.2_Missense_Mutation_p.I283T|CCR9_ENST00000422395.1_3'UTR|Y_RNA_ENST00000364765.1_RNA|CCR9_ENST00000395963.2_Missense_Mutation_p.I283T	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	295					cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		TCCACCAACATTGACATCTGC	0.498																																						ENST00000357632.2																			0				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20						c.(883-885)aTt>aCt		chemokine (C-C motif) receptor 9							185.0	160.0	168.0					3																	45943164		2203	4300	6503	SO:0001583	missense	10803				cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane		g.chr3:45943164T>C	AJ132337	CCDS2732.1, CCDS2733.1	3p21.31	2012-09-20			ENSG00000173585	ENSG00000173585		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1610	protein-coding gene	gene with protein product		604738		GPR28		10229797	Standard	NM_006641		Approved	GPR-9-6, CDw199	uc003coz.2	P51686	OTTHUMG00000133450	ENST00000357632.2:c.884T>C	3.37:g.45943164T>C	ENSP00000350256:p.Ile295Thr					LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000355983.2_Missense_Mutation_p.I283T|LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000395963.2_Missense_Mutation_p.I283T|CCR9_ENST00000422395.1_3'UTR	p.I295T	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)	3	1064	+			295					Q4VBM3|Q549E0|Q9UQQ6	Missense_Mutation	SNP	ENST00000357632.2	37	c.884T>C	CCDS2732.1	.	.	.	.	.	.	.	.	.	.	T	13.38	2.218820	0.39201	.	.	ENSG00000173585	ENST00000357632;ENST00000395963;ENST00000355983	T;T;T	0.37058	1.22;1.22;1.22	4.96	4.96	0.65561	GPCR, rhodopsin-like superfamily (1);	0.558462	0.18367	N	0.143383	T	0.34193	0.0889	L	0.42581	1.335	0.23889	N	0.99655	B	0.11235	0.004	B	0.13407	0.009	T	0.31503	-0.9941	10	0.72032	D	0.01	.	14.6699	0.68937	0.0:0.0:0.0:1.0	.	295	P51686	CCR9_HUMAN	T	295;283;283	ENSP00000350256:I295T;ENSP00000379292:I283T;ENSP00000348260:I283T	ENSP00000348260:I283T	I	+	2	0	CCR9	45918168	0.953000	0.32496	0.055000	0.19348	0.968000	0.65278	6.211000	0.72182	1.858000	0.53909	0.460000	0.39030	ATT		0.498	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257323.2			22	70	0	0	0	1	0	22	70				
EDAR	10913	broad.mit.edu	37	2	109513512	109513512	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr2:109513512G>A	ENST00000258443.2	-	12	1628	c.1198C>T	c.(1198-1200)Cgc>Tgc	p.R400C	EDAR_ENST00000409271.1_Missense_Mutation_p.R432C|EDAR_ENST00000376651.1_Missense_Mutation_p.R432C	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	400	Death.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GTGCTGATGCGGTCAAAGAGT	0.562																																						ENST00000409271.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						c.(1294-1296)Cgc>Tgc		ectodysplasin A receptor							111.0	87.0	95.0					2																	109513512		2203	4300	6503	SO:0001583	missense	10913				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	g.chr2:109513512G>A	AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"""Tumor necrosis factor receptor superfamily"""	2895	protein-coding gene	gene with protein product		604095	"""ectodysplasin 1, anhidrotic receptor"""	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.1198C>T	2.37:g.109513512G>A	ENSP00000258443:p.Arg400Cys					EDAR_ENST00000258443.2_Missense_Mutation_p.R400C|EDAR_ENST00000376651.1_Missense_Mutation_p.R432C	p.R432C			Q9UNE0	EDAR_HUMAN			12	1737	-			400					B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Missense_Mutation	SNP	ENST00000258443.2	37	c.1294C>T	CCDS2081.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.189427	0.78789	.	.	ENSG00000135960	ENST00000409271;ENST00000258443;ENST00000376651	D;D;D	0.90197	-2.63;-2.63;-2.63	5.64	4.71	0.59529	Death (1);DEATH-like (2);	0.000000	0.85682	D	0.000000	D	0.91222	0.7234	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92463	0.5979	10	0.87932	D	0	-42.9124	15.3824	0.74669	0.0:0.0:0.8601:0.1399	.	432;400	E9PC98;Q9UNE0	.;EDAR_HUMAN	C	432;400;432	ENSP00000386371:R432C;ENSP00000258443:R400C;ENSP00000365839:R432C	ENSP00000258443:R400C	R	-	1	0	EDAR	108879944	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.970000	0.56824	2.651000	0.90000	0.650000	0.86243	CGC		0.562	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1			4	16	0	0	0	1	0	4	16				
GOLT1A	127845	broad.mit.edu	37	1	204170871	204170871	+	Silent	SNP	C	C	T			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr1:204170871C>T	ENST00000308302.3	-	3	371	c.186G>A	c.(184-186)cgG>cgA	p.R62R	GOLT1A_ENST00000475517.1_5'Flank	NM_198447.1	NP_940849.1			golgi transport 1A									p.R62R(1)		kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			TGAGTTTGTGCCGTTGGAAGA	0.567																																						ENST00000308302.3																			1	Substitution - coding silent(1)	p.R62R(1)	urinary_tract(1)	kidney(1)|lung(2)|urinary_tract(1)	4						c.(184-186)cgG>cgA		golgi transport 1A							140.0	147.0	145.0					1																	204170871		2203	4300	6503	SO:0001819	synonymous_variant	127845				protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane		g.chr1:204170871C>T	BC058832	CCDS1443.1	1q32.1	2010-06-24	2010-06-24		ENSG00000174567	ENSG00000174567			24766	protein-coding gene	gene with protein product			"""golgi transport 1 homolog A (S. cerevisiae)"""			12477932	Standard	NM_198447		Approved	FLJ42654, CGI-141, YMR292W, GOT1, MGC62027	uc001has.1	Q6ZVE7	OTTHUMG00000036056	ENST00000308302.3:c.186G>A	1.37:g.204170871C>T							p.R62R	NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)		3	371	-	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		62						Silent	SNP	ENST00000308302.3	37	c.186G>A	CCDS1443.1																																																																																				0.567	GOLT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087887.1	NM_198447		9	1474	0	0	0	1	0	9	1474				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		4	37	0	0	0	1	0	4	37				
IKZF2	22807	broad.mit.edu	37	2	213872293	213872293	+	Missense_Mutation	SNP	A	A	C			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr2:213872293A>C	ENST00000434687.1	-	9	1681	c.1372T>G	c.(1372-1374)Tac>Gac	p.Y458D	IKZF2_ENST00000342002.2_Missense_Mutation_p.Y464D|IKZF2_ENST00000374327.4_Missense_Mutation_p.Y313D|IKZF2_ENST00000451136.2_Missense_Mutation_p.Y386D|IKZF2_ENST00000421754.2_Missense_Mutation_p.Y384D|IKZF2_ENST00000413091.3_3'UTR|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000457361.1_Missense_Mutation_p.Y458D|IKZF2_ENST00000374319.4_Missense_Mutation_p.Y432D			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	458					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		AAGACCTTGTAGATGTCCTTC	0.473																																						ENST00000457361.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1372-1374)Tac>Gac		IKAROS family zinc finger 2 (Helios)							176.0	173.0	174.0					2																	213872293		2203	4300	6503	SO:0001583	missense	22807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:213872293A>C	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.1372T>G	2.37:g.213872293A>C	ENSP00000412869:p.Tyr458Asp					IKZF2_ENST00000342002.2_Missense_Mutation_p.Y464D|IKZF2_ENST00000434687.1_Missense_Mutation_p.Y458D|IKZF2_ENST00000374319.4_Missense_Mutation_p.Y432D|IKZF2_ENST00000374327.4_Missense_Mutation_p.Y313D|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000421754.2_Missense_Mutation_p.Y384D|IKZF2_ENST00000451136.2_Missense_Mutation_p.Y386D	p.Y458D	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)	8	1540	-		Esophageal squamous(248;0.0559)|Renal(323;0.218)	458					Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Missense_Mutation	SNP	ENST00000434687.1	37	c.1372T>G	CCDS2395.1	.	.	.	.	.	.	.	.	.	.	A	17.60	3.431013	0.62844	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000421754;ENST00000374327;ENST00000542010	T;T;T;T;T;T;T	0.14022	3.29;3.26;3.29;3.33;3.29;3.37;2.54	6.01	6.01	0.97437	.	0.000000	0.64402	D	0.000007	T	0.32793	0.0841	L	0.48642	1.525	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.994;0.999;0.994	D;D;D;P;D;P	0.85130	0.994;0.997;0.981;0.879;0.959;0.81	T	0.01626	-1.1309	10	0.87932	D	0	-9.0039	16.5205	0.84312	1.0:0.0:0.0:0.0	.	386;384;313;432;458;236	C9JCG7;C9JTM9;F5H8M1;Q9UKS7-2;Q9UKS7;Q96LD7	.;.;.;.;IKZF2_HUMAN;.	D	458;464;458;432;386;384;313;162	ENSP00000410447:Y458D;ENSP00000342876:Y464D;ENSP00000412869:Y458D;ENSP00000363439:Y432D;ENSP00000395203:Y386D;ENSP00000399574:Y384D;ENSP00000363447:Y313D	ENSP00000342876:Y464D	Y	-	1	0	IKZF2	213580538	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.026000	0.76455	2.299000	0.77371	0.533000	0.62120	TAC		0.473	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260		25	124	0	0	0	1	0	25	124				
MSL3P1	151507	broad.mit.edu	37	2	234775387	234775387	+	RNA	SNP	G	G	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr2:234775387G>A	ENST00000438684.1	-	0	727					NR_024322.1		P0C860	MS3L2_HUMAN	male-specific lethal 3 homolog (Drosophila) pseudogene 1						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)											CTGCGGCCTGGATGGATTCAA	0.527																																						ENST00000438684.1																			0																				44.0	39.0	40.0					2																	234775387		692	1591	2283			0							g.chr2:234775387G>A	BI831020		2q37.1	2011-03-21	2011-03-21	2011-03-21	ENSG00000224287	ENSG00000224287			17837	pseudogene	pseudogene			"""male-specific lethal 3-like 2 (Drosophila)"""	MSL3L2			Standard	NR_024322		Approved		uc010znf.2	P0C860	OTTHUMG00000059126		2.37:g.234775387G>A								NR_024322.1						0	727	-									RNA	SNP	ENST00000438684.1	37																																																																																						0.527	MSL3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000131002.2	NR_024322		8	24	0	0	0	1	0	8	24				
NF1	4763	broad.mit.edu	37	17	29556869	29556869	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr17:29556869C>T	ENST00000358273.4	+	22	3250	c.2867C>T	c.(2866-2868)aCc>aTc	p.T956I	NF1_ENST00000356175.3_Missense_Mutation_p.T956I	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	956					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTGACTGATACCAATACTCAA	0.368			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(2866-2868)aCc>aTc		neurofibromin 1							88.0	88.0	88.0					17																	29556869		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29556869C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2867C>T	17.37:g.29556869C>T	ENSP00000351015:p.Thr956Ile	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Missense_Mutation_p.T956I	p.T956I	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	22	3250	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	956					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.2867C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	.	7.566	0.665623	0.14710	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.65916	-0.18;3.28;2.97	5.66	4.67	0.58626	Armadillo-type fold (1);	0.050275	0.85682	D	0.000000	T	0.51890	0.1701	N	0.24115	0.695	0.80722	D	1	B;B;B	0.34290	0.004;0.447;0.002	B;B;B	0.38954	0.004;0.286;0.004	T	0.45673	-0.9245	10	0.20519	T	0.43	.	16.2548	0.82510	0.0:0.8626:0.1374:0.0	.	956;956;956	E1P657;P21359-2;P21359	.;.;NF1_HUMAN	I	956;956;622	ENSP00000351015:T956I;ENSP00000348498:T956I;ENSP00000389907:T622I	ENSP00000348498:T956I	T	+	2	0	NF1	26580995	1.000000	0.71417	1.000000	0.80357	0.381000	0.30169	5.793000	0.69060	1.342000	0.45619	0.455000	0.32223	ACC		0.368	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		13	73	0	0	0	1	0	13	73				
SCN5A	6331	broad.mit.edu	37	3	38645309	38645309	+	Missense_Mutation	SNP	A	A	C			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr3:38645309A>C	ENST00000333535.4	-	12	1933	c.1784T>G	c.(1783-1785)gTg>gGg	p.V595G	SCN5A_ENST00000414099.2_Missense_Mutation_p.V595G|SCN5A_ENST00000443581.1_Missense_Mutation_p.V595G|SCN5A_ENST00000450102.2_Missense_Mutation_p.V595G|SCN5A_ENST00000455624.2_Missense_Mutation_p.V595G|SCN5A_ENST00000449557.2_Missense_Mutation_p.V595G|SCN5A_ENST00000451551.2_Missense_Mutation_p.V595G|SCN5A_ENST00000423572.2_Missense_Mutation_p.V595G|SCN5A_ENST00000413689.1_Missense_Mutation_p.V595G|SCN5A_ENST00000425664.1_Missense_Mutation_p.V595G			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	595					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	ATTGCAGTCCACAGTGCTGTT	0.667																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(1783-1785)gTg>gGg		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						79.0	83.0	82.0					3																	38645309		1994	4186	6180	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38645309A>C	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.1784T>G	3.37:g.38645309A>C	ENSP00000328968:p.Val595Gly					SCN5A_ENST00000455624.2_Missense_Mutation_p.V595G|SCN5A_ENST00000451551.2_Missense_Mutation_p.V595G|SCN5A_ENST00000450102.2_Missense_Mutation_p.V595G|SCN5A_ENST00000449557.2_Missense_Mutation_p.V595G|SCN5A_ENST00000443581.1_Missense_Mutation_p.V595G|SCN5A_ENST00000425664.1_Missense_Mutation_p.V595G|SCN5A_ENST00000423572.2_Missense_Mutation_p.V595G|SCN5A_ENST00000414099.2_Missense_Mutation_p.V595G|SCN5A_ENST00000333535.4_Missense_Mutation_p.V595G	p.V595G	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	12	1977	-	Medulloblastoma(35;0.163)		595					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.1784T>G	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	A	19.68	3.872979	0.72180	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.92299	-3.01;-3.01;-3.01;-3.01;-3.01;-3.01;-3.01;-3.01;-3.01;-3.01	4.18	4.18	0.49190	Domain of unknown function DUF3451 (1);	0.640820	0.15221	N	0.273939	D	0.95367	0.8496	M	0.86268	2.805	0.80722	D	1	P;D;D;P;B;P;P	0.55385	0.933;0.971;0.966;0.933;0.007;0.546;0.874	P;P;P;P;B;B;P	0.59357	0.856;0.784;0.836;0.856;0.011;0.191;0.447	D	0.94359	0.7586	10	0.38643	T	0.18	.	13.4041	0.60900	1.0:0.0:0.0:0.0	.	595;595;595;595;595;595;595	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	G	595	ENSP00000398962:V595G;ENSP00000398266:V595G;ENSP00000410257:V595G;ENSP00000388797:V595G;ENSP00000397915:V595G;ENSP00000416634:V595G;ENSP00000328968:V595G;ENSP00000399524:V595G;ENSP00000403355:V595G;ENSP00000413996:V595G	ENSP00000328968:V595G	V	-	2	0	SCN5A	38620313	1.000000	0.71417	0.993000	0.49108	0.974000	0.67602	6.106000	0.71511	1.757000	0.51966	0.459000	0.35465	GTG		0.667	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		20	67	0	0	0	1	0	20	67				
STEAP1	26872	broad.mit.edu	37	7	89791296	89791296	+	Silent	SNP	G	G	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr7:89791296G>A	ENST00000297205.2	+	4	866	c.666G>A	c.(664-666)ctG>ctA	p.L222L	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	222	Ferric oxidoreductase.				ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|transmembrane transport (GO:0055085)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	channel activity (GO:0015267)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					ATGTGTCTCTGGGAATTGTGG	0.393																																						ENST00000297205.2																			0				kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14						c.(664-666)ctG>ctA		six transmembrane epithelial antigen of the prostate 1							216.0	191.0	199.0					7																	89791296		2203	4300	6503	SO:0001819	synonymous_variant	26872				electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:89791296G>A	AF186249	CCDS5614.1	7q21	2011-08-31	2005-02-21	2005-02-24	ENSG00000164647	ENSG00000164647		"""Serine peptidases / Serine peptidases"""	11378	protein-coding gene	gene with protein product		604415	"""six transmembrane epithelial antigen of the prostate"""	STEAP			Standard	NM_012449		Approved	PRSS24	uc003ujx.3	Q9UHE8	OTTHUMG00000023006	ENST00000297205.2:c.666G>A	7.37:g.89791296G>A						STEAP2-AS1_ENST00000478318.2_RNA	p.L222L	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN			4	866	+	all_hematologic(106;0.112)		222			Ferric oxidoreductase.		A4D1E0|O95034	Silent	SNP	ENST00000297205.2	37	c.666G>A	CCDS5614.1																																																																																				0.393	STEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059327.3	NM_012449		33	154	0	0	0	1	0	33	154				
TH	7054	broad.mit.edu	37	11	2192950	2192950	+	Missense_Mutation	SNP	C	C	T	rs201081519		TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr11:2192950C>T	ENST00000381178.1	-	1	85	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	TH_ENST00000333684.5_Missense_Mutation_p.A23T|MIR4686_ENST00000584128.1_RNA|TH_ENST00000381175.1_Missense_Mutation_p.A23T|TH_ENST00000352909.3_Missense_Mutation_p.A23T	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	23					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GCCTGCTTGGCGTCCAGCTCA	0.697																																						ENST00000381178.1																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11						c.(67-69)Gcc>Acc		tyrosine hydroxylase	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)		THR/ALA,THR/ALA,THR/ALA	2,4402	4.2+/-10.8	0,2,2200	70.0	62.0	65.0		67,67,67	1.4	1.0	11		65	0,8598		0,0,4299	yes	missense,missense,missense	TH	NM_000360.3,NM_199292.2,NM_199293.2	58,58,58	0,2,6499	TT,TC,CC		0.0,0.0454,0.0154	benign,benign,benign	23/498,23/529,23/525	2192950	2,13000	2202	4299	6501	SO:0001583	missense	7054				dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity	g.chr11:2192950C>T	X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"""tyrosine 3-monooxygenase"""	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.67G>A	11.37:g.2192950C>T	ENSP00000370571:p.Ala23Thr					TH_ENST00000352909.3_Missense_Mutation_p.A23T|TH_ENST00000381175.1_Missense_Mutation_p.A23T|TH_ENST00000333684.5_Missense_Mutation_p.A23T	p.A23T	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	1	85	-		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	23					B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Missense_Mutation	SNP	ENST00000381178.1	37	c.67G>A	CCDS7731.1	.	.	.	.	.	.	.	.	.	.	c	22.1	4.247129	0.80024	4.54E-4	0.0	ENSG00000180176	ENST00000381178;ENST00000381175;ENST00000352909;ENST00000333684	D;D;D;D	0.99527	-6.02;-6.02;-6.09;-5.7	3.87	1.4	0.22301	Tyrosine hydroxylase, conserved site (1);	0.703054	0.13153	N	0.409711	D	0.96713	0.8927	L	0.27053	0.805	0.21105	N	0.999789	B;B;B;B;B;B	0.17268	0.012;0.008;0.008;0.021;0.017;0.008	B;B;B;B;B;B	0.12837	0.006;0.002;0.002;0.004;0.008;0.004	D	0.93830	0.7127	10	0.46703	T	0.11	-10.3206	1.9507	0.03366	0.2867:0.4543:0.1408:0.1182	.	23;23;23;23;23;23	B7ZL73;Q0PWM2;Q0PWM3;P07101-3;P07101;P07101-2	.;.;.;.;TY3H_HUMAN;.	T	23	ENSP00000370571:A23T;ENSP00000370567:A23T;ENSP00000325951:A23T;ENSP00000328814:A23T	ENSP00000325831:A23T	A	-	1	0	TH	2149526	.	.	1.000000	0.80357	0.966000	0.64601	.	.	0.728000	0.32382	0.550000	0.68814	GCC		0.697	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026597.1	NM_000360		3	44	0	0	0	1	0	3	44				
MS4A5	64232	broad.mit.edu	37	11	60197174	60197174	+	Silent	SNP	G	G	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr11:60197174G>A	ENST00000300190.2	+	1	113	c.27G>A	c.(25-27)ccG>ccA	p.P9P	MS4A5_ENST00000534071.1_3'UTR	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	9						integral component of membrane (GO:0016021)				large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						CACACAGTCCGGTGTTTCTGG	0.423																																						ENST00000300190.2																			0				large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						c.(25-27)ccG>ccA		membrane-spanning 4-domains, subfamily A, member 5							117.0	117.0	117.0					11																	60197174		2203	4300	6503	SO:0001819	synonymous_variant	64232					integral to membrane	receptor activity	g.chr11:60197174G>A	AB013103	CCDS7987.1	11q12	2008-03-25			ENSG00000166930	ENSG00000166930			13374	protein-coding gene	gene with protein product		606499				11245982, 11401424	Standard	NM_023945		Approved	CD20L2	uc001npo.3	Q9H3V2	OTTHUMG00000167613	ENST00000300190.2:c.27G>A	11.37:g.60197174G>A						MS4A5_ENST00000534071.1_3'UTR	p.P9P	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN			1	113	+			9					Q9BZH1	Silent	SNP	ENST00000300190.2	37	c.27G>A	CCDS7987.1																																																																																				0.423	MS4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395392.1			10	100	0	0	0	1	0	10	100				
SYNE1	23345	broad.mit.edu	37	6	152722323	152722323	+	Silent	SNP	A	A	G			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr6:152722323A>G	ENST00000367255.5	-	47	7580	c.6979T>C	c.(6979-6981)Ttg>Ctg	p.L2327L	RP3-398G3.5_ENST00000458194.1_RNA|SYNE1_ENST00000423061.1_Silent_p.L2334L|SYNE1_ENST00000341594.5_Silent_p.L2364L|SYNE1_ENST00000265368.4_Silent_p.L2327L|SYNE1_ENST00000448038.1_Silent_p.L2334L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2327					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAGTTCATCAACGATTCTTCC	0.368										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(6979-6981)Ttg>Ctg		spectrin repeat containing, nuclear envelope 1							162.0	137.0	145.0					6																	152722323		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152722323A>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.6979T>C	6.37:g.152722323A>G		HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Silent_p.L2334L|SYNE1_ENST00000341594.5_Silent_p.L2364L|SYNE1_ENST00000265368.4_Silent_p.L2327L|SYNE1_ENST00000448038.1_Silent_p.L2334L	p.L2327L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	47	7580	-		Ovarian(120;0.0955)	2327					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.6979T>C	CCDS5236.2																																																																																				0.368	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		8	39	0	0	0	1	0	8	39				
LHX8	431707	broad.mit.edu	37	1	75622617	75622617	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr1:75622617G>A	ENST00000294638.5	+	9	1514	c.850G>A	c.(850-852)Gtc>Atc	p.V284I	LHX8_ENST00000356261.3_Missense_Mutation_p.V274I	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	284					female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CAAGAAACACGTCAGTCCTAA	0.502																																						ENST00000294638.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						c.(850-852)Gtc>Atc		LIM homeobox 8							295.0	264.0	274.0					1																	75622617		2203	4300	6503	SO:0001583	missense	431707					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:75622617G>A	AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"""Homeoboxes / LIM class"""	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.850G>A	1.37:g.75622617G>A	ENSP00000294638:p.Val284Ile					LHX8_ENST00000356261.3_Missense_Mutation_p.V274I	p.V284I	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN			9	1514	+			284					E9PGE3	Missense_Mutation	SNP	ENST00000294638.5	37	c.850G>A	CCDS30756.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.852331	0.51270	.	.	ENSG00000162624	ENST00000294638;ENST00000356261	D;D	0.86097	-2.07;-2.06	5.12	5.12	0.69794	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.70185	0.3195	L	0.29908	0.895	0.80722	D	1	B	0.22480	0.07	B	0.16722	0.016	T	0.66400	-0.5933	10	0.27785	T	0.31	.	18.9441	0.92615	0.0:0.0:1.0:0.0	.	284	Q68G74	LHX8_HUMAN	I	284;274	ENSP00000294638:V284I;ENSP00000348597:V274I	ENSP00000294638:V284I	V	+	1	0	LHX8	75395205	1.000000	0.71417	0.990000	0.47175	0.940000	0.58332	7.404000	0.79996	2.556000	0.86216	0.455000	0.32223	GTC		0.502	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933		32	101	0	0	0	1	0	32	101				
BBS9	27241	broad.mit.edu	37	7	33644509	33644509	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr7:33644509G>C	ENST00000242067.6	+	22	3075	c.2554G>C	c.(2554-2556)Gaa>Caa	p.E852Q	BBS9_ENST00000396127.2_Missense_Mutation_p.E817Q|BBS9_ENST00000355070.2_Missense_Mutation_p.E847Q|BBS9_ENST00000350941.3_Missense_Mutation_p.E812Q|BBS9_ENST00000354265.4_Missense_Mutation_p.E817Q	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	852					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			GTCAGACCTAGAAGAAAGATC	0.418									Bardet-Biedl syndrome																													ENST00000242067.6																		BBS9/PKD1L1(2)	0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50						c.(2554-2556)Gaa>Caa		Bardet-Biedl syndrome 9							92.0	83.0	86.0					7																	33644509		2203	4300	6503	SO:0001583	missense	27241	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33644509G>C		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.2554G>C	7.37:g.33644509G>C	ENSP00000242067:p.Glu852Gln					BBS9_ENST00000350941.3_Missense_Mutation_p.E812Q|BBS9_ENST00000355070.2_Missense_Mutation_p.E847Q|BBS9_ENST00000354265.4_Missense_Mutation_p.E817Q|BBS9_ENST00000396127.2_Missense_Mutation_p.E817Q	p.E852Q	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		22	3075	+			852					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	ENST00000242067.6	37	c.2554G>C	CCDS43566.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.19|16.19	3.052779|3.052779	0.55218|0.55218	.|.	.|.	ENSG00000122507|ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132|ENST00000434373	T;T;T;T;T|.	0.66995|.	-0.19;-0.24;-0.21;-0.14;-0.23|.	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	0.000000|.	0.49305|.	D|.	0.000146|.	T|T	0.54919|0.54919	0.1888|0.1888	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.67145|.	0.996;0.995;0.996;0.995;0.996|.	D;P;D;P;D|.	0.64321|.	0.924;0.889;0.918;0.889;0.918|.	T|T	0.47623|0.47623	-0.9103|-0.9103	10|5	0.72032|.	D|.	0.01|.	-10.9987|-10.9987	17.7994|17.7994	0.88581|0.88581	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	852;812;847;817;852|.	Q3SYG4-3;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4|.	.;.;.;.;PTHB1_HUMAN|.	Q|T	852;812;817;847;817;852|418	ENSP00000242067:E852Q;ENSP00000313122:E812Q;ENSP00000379433:E817Q;ENSP00000347182:E847Q;ENSP00000346214:E817Q|.	ENSP00000242067:E852Q|.	E|R	+|+	1|2	0|0	BBS9|BBS9	33611034|33611034	1.000000|1.000000	0.71417|0.71417	0.932000|0.932000	0.37286|0.37286	0.144000|0.144000	0.21451|0.21451	5.777000|5.777000	0.68931|0.68931	2.816000|2.816000	0.96949|0.96949	0.561000|0.561000	0.74099|0.74099	GAA|AGA		0.418	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			3	26	0	0	0	1	0	3	26				
PDE6A	5145	broad.mit.edu	37	5	149313501	149313501	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr5:149313501G>A	ENST00000255266.5	-	3	828	c.709C>T	c.(709-711)Cgt>Tgt	p.R237C		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	237					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)	p.R237C(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	ACCTGGCCACGTCGAGTTTCA	0.473																																						ENST00000255266.5																			1	Substitution - Missense(1)	p.R237C(1)	endometrium(1)	breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44						c.(709-711)Cgt>Tgt		phosphodiesterase 6A, cGMP-specific, rod, alpha							80.0	71.0	74.0					5																	149313501		2203	4300	6503	SO:0001583	missense	5145				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr5:149313501G>A		CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"""Phosphodiesterases"""	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.709C>T	5.37:g.149313501G>A	ENSP00000255266:p.Arg237Cys						p.R237C	NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		3	828	-			237					Q0P638	Missense_Mutation	SNP	ENST00000255266.5	37	c.709C>T	CCDS4299.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854748	0.71719	.	.	ENSG00000132915	ENST00000255266	T	0.71461	-0.57	5.68	5.68	0.88126	.	0.050389	0.64402	D	0.000001	T	0.81730	0.4884	M	0.75615	2.305	0.53688	D	0.999973	D	0.76494	0.999	D	0.65140	0.932	T	0.83148	-0.0105	10	0.87932	D	0	.	12.5785	0.56378	0.0:0.0:0.834:0.166	.	237	P16499	PDE6A_HUMAN	C	237	ENSP00000255266:R237C	ENSP00000255266:R237C	R	-	1	0	PDE6A	149293694	1.000000	0.71417	0.989000	0.46669	0.976000	0.68499	3.307000	0.51888	2.838000	0.97847	0.591000	0.81541	CGT		0.473	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2			6	10	0	0	0	1	0	6	10				
ADRBK2	157	broad.mit.edu	37	22	26083560	26083560	+	Missense_Mutation	SNP	C	C	T	rs200558027		TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr22:26083560C>T	ENST00000324198.6	+	11	1075	c.883C>T	c.(883-885)Cgg>Tgg	p.R295W		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	295	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				receptor internalization (GO:0031623)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)		ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	GAAGGAGATGCGGTTTTATGC	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		22176	0.001		0.0	False		,,,				2504	0.0					ENST00000324198.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32						c.(883-885)Cgg>Tgg		adrenergic, beta, receptor kinase 2	Adenosine triphosphate(DB00171)	C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	184.0	145.0	158.0		883	2.4	1.0	22		158	0,8600		0,0,4300	no	missense	ADRBK2	NM_005160.3	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	295/689	26083560	1,13005	2203	4300	6503	SO:0001583	missense	157						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity	g.chr22:26083560C>T	X69117	CCDS13832.1	22q11	2013-01-10			ENSG00000100077	ENSG00000100077		"""Pleckstrin homology (PH) domain containing"""	290	protein-coding gene	gene with protein product		109636				7695743	Standard	NM_005160		Approved	GRK3, BARK2	uc003abx.4	P35626	OTTHUMG00000150280	ENST00000324198.6:c.883C>T	22.37:g.26083560C>T	ENSP00000317578:p.Arg295Trp						p.R295W	NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN			11	1075	+			295			Protein kinase.		Q9UGW9	Missense_Mutation	SNP	ENST00000324198.6	37	c.883C>T	CCDS13832.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703116	0.68501	2.27E-4	0.0	ENSG00000100077	ENST00000324198;ENST00000545323	T	0.27104	1.69	4.71	2.36	0.29203	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.144833	0.43919	D	0.000514	T	0.43277	0.1240	L	0.59912	1.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.981	T	0.40098	-0.9581	10	0.72032	D	0.01	-17.4793	10.6595	0.45694	0.5398:0.4602:0.0:0.0	.	295;295	A8K869;P35626	.;ARBK2_HUMAN	W	295	ENSP00000317578:R295W	ENSP00000317578:R295W	R	+	1	2	ADRBK2	24413560	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	1.942000	0.40243	1.267000	0.44247	0.650000	0.86243	CGG		0.418	ADRBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317296.4	NM_005160		3	63	0	0	0	1	0	3	63				
ZBED9	114821	broad.mit.edu	37	6	28540855	28540855	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr6:28540855C>G	ENST00000452236.2	-	4	3428	c.2811G>C	c.(2809-2811)ttG>ttC	p.L937F	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						tgtttgtaggcaaagaggctg	0.318																																						ENST00000452236.2																			0				NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						c.(2809-2811)ttG>ttC		SCAN domain containing 3							40.0	35.0	37.0					6																	28540855		2203	4299	6502	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28540855C>G																												ENST00000452236.2:c.2811G>C	6.37:g.28540855C>G	ENSP00000395259:p.Leu937Phe						p.L937F	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN			4	3428	-			937						Missense_Mutation	SNP	ENST00000452236.2	37	c.2811G>C	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.477661	0.26511	.	.	ENSG00000232040	ENST00000452236	T	0.26518	1.73	2.14	-2.86	0.05717	Ribonuclease H-like (1);	0.130812	0.31847	N	0.006971	T	0.24967	0.0606	M	0.77616	2.38	0.21652	N	0.999602	D	0.63880	0.993	D	0.79108	0.992	T	0.10706	-1.0618	10	0.66056	D	0.02	.	3.1974	0.06637	0.2:0.4447:0.0:0.3553	.	937	Q6R2W3	SCND3_HUMAN	F	937	ENSP00000395259:L937F	ENSP00000395259:L937F	L	-	3	2	SCAND3	28648834	0.990000	0.36364	0.972000	0.41901	0.901000	0.52897	-0.272000	0.08560	-0.799000	0.04439	-0.985000	0.02557	TTG		0.318	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			6	13	0	0	0	1	0	6	13				
OR5H14	403273	broad.mit.edu	37	3	97868982	97868982	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr3:97868982C>A	ENST00000437310.1	+	1	813	c.753C>A	c.(751-753)taC>taA	p.Y251*	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	251						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(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TATCTTTATACTATGGGCCCC	0.413																																						ENST00000437310.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(751-753)taC>taA		olfactory receptor, family 5, subfamily H, member 14							54.0	50.0	52.0					3																	97868982		2203	4298	6501	SO:0001587	stop_gained	403273				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97868982C>A		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"""GPCR / Class A : Olfactory receptors"""	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.753C>A	3.37:g.97868982C>A	ENSP00000401706:p.Tyr251*						p.Y251*	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN			1	813	+			251					B9EH15	Nonsense_Mutation	SNP	ENST00000437310.1	37	c.753C>A	CCDS33798.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.682006	0.29872	.	.	ENSG00000236032	ENST00000437310	.	.	.	2.49	1.58	0.23477	.	0.000000	0.42420	D	0.000703	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	4.6341	0.12516	0.0:0.6694:0.0:0.3306	.	.	.	.	X	251	.	ENSP00000401706:Y251X	Y	+	3	2	OR5H14	99351672	0.000000	0.05858	0.763000	0.31416	0.215000	0.24574	-0.872000	0.04219	0.365000	0.24400	0.195000	0.17529	TAC		0.413	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			8	34	1	0	5.4927e-09	1	5.78179e-09	8	34				
RBM19	9904	broad.mit.edu	37	12	114374833	114374833	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr12:114374833C>T	ENST00000545145.2	-	16	2125	c.2047G>A	c.(2047-2049)Gac>Aac	p.D683N	RBM19_ENST00000392561.3_Missense_Mutation_p.D683N|RP11-780K2.1_ENST00000550206.1_RNA|RBM19_ENST00000261741.5_Missense_Mutation_p.D683N	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	683					multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TCTGCTGGGTCCTTTTCCATG	0.557																																						ENST00000545145.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55						c.(2047-2049)Gac>Aac		RNA binding motif protein 19							151.0	149.0	149.0					12																	114374833		2203	4300	6503	SO:0001583	missense	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114374833C>T	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.2047G>A	12.37:g.114374833C>T	ENSP00000442053:p.Asp683Asn					RP11-780K2.1_ENST00000550206.1_RNA|RBM19_ENST00000261741.5_Missense_Mutation_p.D683N|RBM19_ENST00000392561.3_Missense_Mutation_p.D683N	p.D683N	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN			16	2125	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		683					A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	c.2047G>A	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.512683	0.27123	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.05580	3.42;3.42;3.42	4.8	3.9	0.45041	Nucleotide-binding, alpha-beta plait (1);	0.598760	0.17982	N	0.155490	T	0.05456	0.0144	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.34229	-0.9837	10	0.18710	T	0.47	-9.9566	12.5068	0.55986	0.0:0.917:0.0:0.083	.	683	Q9Y4C8	RBM19_HUMAN	N	683	ENSP00000442053:D683N;ENSP00000376344:D683N;ENSP00000261741:D683N	ENSP00000261741:D683N	D	-	1	0	RBM19	112859216	0.005000	0.15991	0.004000	0.12327	0.011000	0.07611	2.064000	0.41432	2.222000	0.72286	0.655000	0.94253	GAC		0.557	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		24	107	0	0	0	1	0	24	107				
EFCAB1	79645	broad.mit.edu	37	8	49644012	49644012	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr8:49644012C>T	ENST00000262103.3	-	2	189	c.109G>A	c.(109-111)Gga>Aga	p.G37R	EFCAB1_ENST00000433756.1_Intron|EFCAB1_ENST00000521002.1_Intron|EFCAB1_ENST00000523092.1_Intron	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	37							calcium ion binding (GO:0005509)	p.G37*(1)		endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				TCTACTCCTCCCACCAAGTCA	0.338																																						ENST00000262103.3																			1	Substitution - Nonsense(1)	p.G37*(1)	lung(1)	endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14						c.(109-111)Gga>Aga		EF-hand calcium binding domain 1							95.0	88.0	91.0					8																	49644012		2203	4300	6503	SO:0001583	missense	79645						calcium ion binding	g.chr8:49644012C>T		CCDS6145.1, CCDS47853.1	8q11.21	2013-01-10			ENSG00000034239	ENSG00000034239		"""EF-hand domain containing"""	25678	protein-coding gene	gene with protein product						12477932	Standard	NM_024593		Approved	FLJ11767	uc003xqo.2	Q9HAE3	OTTHUMG00000164203	ENST00000262103.3:c.109G>A	8.37:g.49644012C>T	ENSP00000262103:p.Gly37Arg					EFCAB1_ENST00000433756.1_Intron|EFCAB1_ENST00000521002.1_Intron|EFCAB1_ENST00000523092.1_Intron	p.G37R	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN			2	189	-		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)	37					B4DSB4|E7EVN7	Missense_Mutation	SNP	ENST00000262103.3	37	c.109G>A	CCDS6145.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225474	0.39300	.	.	ENSG00000034239	ENST00000262103;ENST00000450553	T	0.69561	-0.41	4.77	4.77	0.60923	EF-hand-like domain (1);	0.215542	0.47852	D	0.000205	T	0.66577	0.2803	M	0.74258	2.255	0.58432	D	0.999998	B	0.31910	0.346	B	0.30316	0.114	T	0.68815	-0.5309	10	0.45353	T	0.12	.	15.6716	0.77283	0.0:1.0:0.0:0.0	.	37	Q9HAE3	EFCB1_HUMAN	R	37	ENSP00000262103:G37R	ENSP00000262103:G37R	G	-	1	0	EFCAB1	49806565	0.991000	0.36638	1.000000	0.80357	0.219000	0.24729	2.344000	0.44010	2.629000	0.89072	0.650000	0.86243	GGA		0.338	EFCAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377778.1	NM_024593		5	51	0	0	0	1	0	5	51				
TMEM52B	120939	broad.mit.edu	37	12	10332177	10332177	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr12:10332177G>A	ENST00000381923.2	+	2	408	c.4G>A	c.(4-6)Gga>Aga	p.G2R	TMEM52B_ENST00000298530.3_5'UTR|TMEM52B_ENST00000536952.1_Missense_Mutation_p.G2R			Q4KMG9	TM52B_HUMAN	transmembrane protein 52B	2						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CAGCCCGATGGGAGTCCGAGT	0.473																																						ENST00000381923.2																			0											c.(4-6)Gga>Aga		transmembrane protein 52B							191.0	180.0	183.0					12																	10332177		2203	4300	6503	SO:0001583	missense	120939							g.chr12:10332177G>A	AY358845	CCDS8619.1, CCDS66314.1	12p13.2	2012-08-15	2012-08-15	2012-08-15	ENSG00000165685	ENSG00000165685			26438	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 59"""	C12orf59		12975309	Standard	XM_005253299		Approved	FLJ31166	uc001qxq.3	Q4KMG9	OTTHUMG00000168410	ENST00000381923.2:c.4G>A	12.37:g.10332177G>A	ENSP00000371348:p.Gly2Arg					TMEM52B_ENST00000298530.3_5'UTR|TMEM52B_ENST00000536952.1_Missense_Mutation_p.G2R	p.G2R							2	408	+								Q96NA7	Missense_Mutation	SNP	ENST00000381923.2	37	c.4G>A		.	.	.	.	.	.	.	.	.	.	G	6.834	0.522995	0.13066	.	.	ENSG00000165685	ENST00000381923;ENST00000543484;ENST00000536952	.	.	.	5.3	2.49	0.30216	.	1.039460	0.07594	N	0.922576	T	0.33089	0.0851	.	.	.	0.20196	N	0.999926	B	0.12013	0.005	B	0.12156	0.007	T	0.32107	-0.9919	8	0.66056	D	0.02	-1.0189	7.1081	0.25374	0.2809:0.0:0.7191:0.0	.	2	Q4KMG9	CL059_HUMAN	R	2	.	ENSP00000371348:G2R	G	+	1	0	C12orf59	10223444	0.862000	0.29867	0.294000	0.24946	0.023000	0.10783	0.998000	0.29744	0.386000	0.24997	0.650000	0.86243	GGA		0.473	TMEM52B-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000399645.1	NM_153022		41	144	0	0	0	1	0	41	144				
TSPEAR	54084	broad.mit.edu	37	21	45945556	45945556	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr21:45945556G>A	ENST00000323084.4	-	8	1381	c.1316C>T	c.(1315-1317)gCg>gTg	p.A439V	C21orf90_ENST00000465978.1_Intron|TSPEAR_ENST00000397916.1_Missense_Mutation_p.A371V	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	439					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GTTGGCCACCGCCAGGAAGTG	0.607																																						ENST00000323084.4																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						c.(1315-1317)gCg>gTg		thrombospondin-type laminin G domain and EAR repeats							110.0	110.0	110.0					21																	45945556		2203	4300	6503	SO:0001583	missense	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45945556G>A	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.1316C>T	21.37:g.45945556G>A	ENSP00000321987:p.Ala439Val					TSPEAR_ENST00000397916.1_Missense_Mutation_p.A371V|C21orf90_ENST00000465978.1_Intron	p.A439V	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN			8	1381	-			439						Missense_Mutation	SNP	ENST00000323084.4	37	c.1316C>T	CCDS13712.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.172354	0.38315	.	.	ENSG00000175894	ENST00000323084;ENST00000397918;ENST00000397916;ENST00000341581	T;T	0.79845	-1.31;-1.31	4.32	2.41	0.29592	.	0.122751	0.56097	N	0.000032	T	0.64918	0.2642	N	0.25825	0.765	0.80722	D	1	B	0.20988	0.05	B	0.27500	0.08	T	0.53858	-0.8379	10	0.05959	T	0.93	-15.7501	10.3705	0.44051	0.1762:0.0:0.8238:0.0	.	439	Q8WU66	TSEAR_HUMAN	V	439;292;371;440	ENSP00000321987:A439V;ENSP00000381012:A371V	ENSP00000321987:A439V	A	-	2	0	TSPEAR	44769984	0.998000	0.40836	0.984000	0.44739	0.986000	0.74619	3.028000	0.49705	0.916000	0.36871	0.491000	0.48974	GCG		0.607	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		20	119	0	0	0	1	0	20	119				
DOCK2	1794	broad.mit.edu	37	5	169127065	169127065	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr5:169127065C>T	ENST00000256935.8	+	13	1260	c.1180C>T	c.(1180-1182)Cgc>Tgc	p.R394C		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	394					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATTCAGATTCGCAAGGACTA	0.562																																						ENST00000256935.8																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(1180-1182)Cgc>Tgc		dedicator of cytokinesis 2							174.0	155.0	162.0					5																	169127065		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169127065C>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.1180C>T	5.37:g.169127065C>T	ENSP00000256935:p.Arg394Cys						p.R394C	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		13	1260	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	394					Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.1180C>T	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404853	0.83230	.	.	ENSG00000134516	ENST00000256935	T	0.04862	3.54	6.07	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.28366	0.0701	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	T	0.00939	-1.1507	10	0.49607	T	0.09	.	15.5036	0.75719	0.2096:0.7904:0.0:0.0	.	394	Q92608	DOCK2_HUMAN	C	394	ENSP00000256935:R394C	ENSP00000256935:R394C	R	+	1	0	DOCK2	169059643	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.937000	0.48979	2.884000	0.98904	0.655000	0.94253	CGC		0.562	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		22	111	0	0	0	1	0	22	111				
CHAF1B	8208	broad.mit.edu	37	21	37785365	37785365	+	Silent	SNP	G	G	A	rs376013076		TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr21:37785365G>A	ENST00000314103.5	+	12	1396	c.1245G>A	c.(1243-1245)ccG>ccA	p.P415P		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	415					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						GACCCAGACCGGTAGAGGGAA	0.577																																						ENST00000314103.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						c.(1243-1245)ccG>ccA		chromatin assembly factor 1, subunit B (p60)		G		0,4406		0,0,2203	53.0	57.0	56.0		1245	-10.4	0.0	21		56	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CHAF1B	NM_005441.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		415/560	37785365	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8208				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding	g.chr21:37785365G>A	U20980	CCDS13644.1	21q22.2	2013-01-10			ENSG00000159259	ENSG00000159259		"""WD repeat domain containing"""	1911	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 7"", ""Chromatin assembly factor I, p60 subunit"", ""human chromatin assembly factor-I p60 subunit"""	601245				7600578, 8792829	Standard	NM_005441		Approved	CAF1P60, CAF-1, CAF1, CAF1A, MPP7, MPHOSPH7	uc002yvj.3	Q13112	OTTHUMG00000086606	ENST00000314103.5:c.1245G>A	21.37:g.37785365G>A							p.P415P	NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN			12	1396	+			415					Q99548	Silent	SNP	ENST00000314103.5	37	c.1245G>A	CCDS13644.1																																																																																				0.577	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194616.2	NM_005441		6	43	0	0	0	1	0	6	43				
MIA3	375056	broad.mit.edu	37	1	222838722	222838722	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr1:222838722C>A	ENST00000344922.5	+	28	5510	c.5485C>A	c.(5485-5487)Cct>Act	p.P1829T	MIA3_ENST00000340535.7_Missense_Mutation_p.P707T|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.P1829T|AIDA_ENST00000474863.1_5'Flank	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1829	Pro-rich.				chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		ACGGGACCTGCCTCTCCACCC	0.493																																						ENST00000344922.5																			0				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80						c.(5485-5487)Cct>Act		melanoma inhibitory activity family, member 3							191.0	192.0	192.0					1																	222838722		1889	4119	6008	SO:0001583	missense	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222838722C>A		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.5485C>A	1.37:g.222838722C>A	ENSP00000340900:p.Pro1829Thr					MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Missense_Mutation_p.P707T|MIA3_ENST00000344441.6_Missense_Mutation_p.P1829T	p.P1829T	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	28	5510	+			1829			Pro-rich.		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	c.5485C>A	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.598719	0.46318	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000340535;ENST00000284471	T;T;T	0.10099	3.47;3.44;2.91	5.89	4.98	0.66077	.	.	.	.	.	T	0.27205	0.0667	M	0.64997	1.995	0.27590	N	0.949296	P;D	0.65815	0.867;0.995	B;P	0.60886	0.44;0.88	T	0.06285	-1.0835	9	0.36615	T	0.2	.	14.8273	0.70122	0.0:0.93:0.0:0.07	.	707;1829	Q5JRA6-4;Q5JRA6	.;MIA3_HUMAN	T	1829;1829;1770;707;707	ENSP00000340900:P1829T;ENSP00000340587:P1829T;ENSP00000345866:P707T	ENSP00000284471:P707T	P	+	1	0	MIA3	220905345	1.000000	0.71417	0.999000	0.59377	0.721000	0.41392	1.681000	0.37618	1.492000	0.48499	0.591000	0.81541	CCT		0.493	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		55	199	1	0	2.78941e-39	1	2.98865e-39	55	199				
SIMC1	375484	broad.mit.edu	37	5	175717198	175717198	+	Missense_Mutation	SNP	G	G	A	rs371703466		TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr5:175717198G>A	ENST00000443967.1	+	4	1021	c.614G>A	c.(613-615)cGa>cAa	p.R205Q	SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000429602.2_Missense_Mutation_p.R224Q|SIMC1_ENST00000503595.1_3'UTR|SIMC1_ENST00000430704.2_Intron			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	205	Pro-rich.						SUMO polymer binding (GO:0032184)										TGCCCCCTGCGACCTTTGCCA	0.587																																						ENST00000443967.1																			0											c.(613-615)cGa>cAa		SUMO-interacting motifs containing 1		A		1,4405	2.1+/-5.4	0,1,2202	118.0	89.0	99.0			-8.8	0.0	5		99	0,8600		0,0,4300	no	intron	C5orf25	NM_198567.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077			175717198	1,13005	2203	4300	6503	SO:0001583	missense	375484							g.chr5:175717198G>A	BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"""oocyte maturation associated 1"", ""platform element for inhibition of autolytic degradation"""		"""chromosome 5 open reading frame 25"""	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.614G>A	5.37:g.175717198G>A	ENSP00000406571:p.Arg205Gln					SIMC1_ENST00000429602.2_Missense_Mutation_p.R224Q|SIMC1_ENST00000430704.2_Intron|SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000503595.1_3'UTR	p.R205Q							4	1021	+								J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Missense_Mutation	SNP	ENST00000443967.1	37	c.614G>A		.	.	.	.	.	.	.	.	.	.	g	0.326	-0.959229	0.02267	2.27E-4	0.0	ENSG00000170085	ENST00000443967;ENST00000429602;ENST00000377277	T;T	0.37235	1.94;1.21	4.38	-8.76	0.00830	.	1.899410	0.03005	N	0.148675	T	0.20901	0.0503	.	.	.	0.09310	N	1	B;B	0.18013	0.005;0.025	B;B	0.12156	0.001;0.007	T	0.34576	-0.9823	9	0.10111	T	0.7	.	16.4795	0.84153	0.7155:0.0:0.2845:0.0	.	224;205	B4DRM7;Q8NDZ2	.;CE025_HUMAN	Q	205;224;116	ENSP00000406571:R205Q;ENSP00000410552:R224Q	ENSP00000366489:R116Q	R	+	2	0	C5orf25	175649804	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.093000	0.03362	-2.999000	0.00276	-2.916000	0.00090	CGA		0.587	SIMC1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000253155.2	NM_198567		6	15	0	0	0	1	0	6	15				
IGF1R	3480	broad.mit.edu	37	15	99486176	99486176	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr15:99486176A>G	ENST00000268035.6	+	19	4093	c.3482A>G	c.(3481-3483)tAt>tGt	p.Y1161C	IGF1R_ENST00000558762.1_Missense_Mutation_p.Y1160C	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1161	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CGAGATATCTATGAGACAGAC	0.552																																						ENST00000268035.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(3481-3483)tAt>tGt		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						127.0	118.0	121.0					15																	99486176		2197	4297	6494	SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99486176A>G	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.3482A>G	15.37:g.99486176A>G	ENSP00000268035:p.Tyr1161Cys					IGF1R_ENST00000558762.1_Missense_Mutation_p.Y1160C	p.Y1161C	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		19	4093	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		1161			Protein kinase.		B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.3482A>G	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.650808	0.87958	.	.	ENSG00000140443	ENST00000268035	D	0.83250	-1.7	5.65	5.65	0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Tyrosine-protein kinase, receptor class II, conserved site (1);Protein kinase, catalytic domain (1);	0.000000	0.52532	D	0.000066	D	0.91040	0.7181	M	0.78916	2.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92165	0.5739	10	0.87932	D	0	.	15.8787	0.79185	1.0:0.0:0.0:0.0	.	1160;1161	C9J5X1;P08069	.;IGF1R_HUMAN	C	1161	ENSP00000268035:Y1161C	ENSP00000268035:Y1161C	Y	+	2	0	IGF1R	97303699	1.000000	0.71417	0.978000	0.43139	0.898000	0.52572	9.307000	0.96226	2.139000	0.66308	0.533000	0.62120	TAT		0.552	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		21	75	0	0	0	1	0	21	75				
MLKL	197259	broad.mit.edu	37	16	74712848	74712848	+	Silent	SNP	G	G	A	rs367604583		TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr16:74712848G>A	ENST00000308807.7	-	7	1450	c.987C>T	c.(985-987)caC>caT	p.H329H	MLKL_ENST00000306247.7_Intron	NM_152649.2	NP_689862.1			mixed lineage kinase domain-like											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TGATTTTTCCGTGGAGTTCAG	0.507																																						ENST00000308807.7																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						c.(985-987)caC>caT		mixed lineage kinase domain-like							155.0	123.0	134.0					16																	74712848		2198	4300	6498	SO:0001819	synonymous_variant	197259						ATP binding|protein binding|protein kinase activity	g.chr16:74712848G>A	AK091708	CCDS32487.1, CCDS45528.1	16q22.3	2008-02-05				ENSG00000168404			26617	protein-coding gene	gene with protein product		615153				12477932	Standard	NM_152649		Approved	FLJ34389	uc002fdb.2	Q8NB16		ENST00000308807.7:c.987C>T	16.37:g.74712848G>A						MLKL_ENST00000306247.7_Intron	p.H329H	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN			7	1450	-			329			Protein kinase.			Silent	SNP	ENST00000308807.7	37	c.987C>T	CCDS32487.1																																																																																				0.507	MLKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436403.3	NM_152649		8	32	0	0	0	1	0	8	32				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			3	33	0	0	0	1	0	3	33				
UBE2L6	9246	broad.mit.edu	37	11	57322047	57322047	+	Missense_Mutation	SNP	G	G	A	rs372087046		TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr11:57322047G>A	ENST00000287156.4	-	3	368	c.173C>T	c.(172-174)cCg>cTg	p.P58L	UBE2L6_ENST00000340573.4_5'UTR	NM_004223.4	NP_004214.1	O14933	UB2L6_HUMAN	ubiquitin-conjugating enzyme E2L 6	58					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	ISG15 ligase activity (GO:0042296)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(3)|ovary(1)	5						ATACTCCGGCGGGAAGCTGAT	0.542																																						ENST00000287156.4																			0				large_intestine(1)|lung(3)|ovary(1)	5						c.(172-174)cCg>cTg		ubiquitin-conjugating enzyme E2L 6		G	LEU/PRO,	0,4402		0,0,2201	155.0	146.0	149.0		173,	6.1	1.0	11		149	1,8591	1.2+/-3.3	0,1,4295	no	missense,utr-5	UBE2L6	NM_004223.4,NM_198183.2	98,	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,	58/154,	57322047	1,12993	2201	4296	6497	SO:0001583	missense	9246				negative regulation of type I interferon production	cytosol	protein binding|ubiquitin-protein ligase activity	g.chr11:57322047G>A	AF031141, AK093462, BC032491	CCDS7960.1, CCDS7961.1	11q12.1	2008-02-01			ENSG00000156587	ENSG00000156587		"""Ubiquitin-conjugating enzymes E2"""	12490	protein-coding gene	gene with protein product		603890				9153201	Standard	NM_004223		Approved	UBCH8	uc001nkn.2	O14933	OTTHUMG00000167047	ENST00000287156.4:c.173C>T	11.37:g.57322047G>A	ENSP00000287156:p.Pro58Leu					UBE2L6_ENST00000340573.4_5'UTR	p.P58L	NM_004223.4	NP_004214.1	O14933	UB2L6_HUMAN			3	368	-			58					A6NDM6|A8MY53|Q8N5D8|Q9UEZ0	Missense_Mutation	SNP	ENST00000287156.4	37	c.173C>T	CCDS7960.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.235815	0.79800	0.0	1.16E-4	ENSG00000156587	ENST00000287156;ENST00000526659	T;T	0.78126	-1.15;-1.15	6.06	6.06	0.98353	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.217730	0.32416	N	0.006140	D	0.91958	0.7453	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93213	0.6602	10	0.87932	D	0	.	19.3923	0.94587	0.0:0.0:1.0:0.0	.	58	O14933	UB2L6_HUMAN	L	58;65	ENSP00000287156:P58L;ENSP00000434348:P65L	ENSP00000287156:P58L	P	-	2	0	UBE2L6	57078623	1.000000	0.71417	0.957000	0.39632	0.127000	0.20565	9.776000	0.99001	2.882000	0.98803	0.655000	0.94253	CCG		0.542	UBE2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392657.1	NM_004223		25	96	0	0	0	1	0	25	96				
MALAT1	378938	broad.mit.edu	37	11	65273557	65273557	+	lincRNA	SNP	T	T	C			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr11:65273557T>C	ENST00000534336.1	+	0	8325					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		CTTTTTGGCCTTTTTCTAGCT	0.428																																						ENST00000534336.1																			0																				53.0	57.0	56.0					11																	65273557		874	1988	2862			0							g.chr11:65273557T>C	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65273557T>C								NR_002819.2						0	8325	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.428	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		3	40	0	0	0	1	0	3	40				
OR2L3	391192	broad.mit.edu	37	1	248224254	248224254	+	Missense_Mutation	SNP	A	A	G	rs186782673		TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr1:248224254A>G	ENST00000359959.3	+	1	271	c.271A>G	c.(271-273)Atc>Gtc	p.I91V	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TAACAAGTCTATCTCCTTCAC	0.433													a|||	1	0.000199681	0.0	0.0	5008	,	,		23212	0.001		0.0	False		,,,				2504	0.0					ENST00000359959.3																			0				cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41						c.(271-273)Atc>Gtc		olfactory receptor, family 2, subfamily L, member 3							266.0	260.0	262.0					1																	248224254		2203	4300	6503	SO:0001583	missense	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224254A>G	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.271A>G	1.37:g.248224254A>G	ENSP00000353044:p.Ile91Val					OR2L13_ENST00000366478.2_Intron	p.I91V	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	271	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		91					B9EH44	Missense_Mutation	SNP	ENST00000359959.3	37	c.271A>G	CCDS31104.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	.	10.56	1.385086	0.25031	.	.	ENSG00000198128	ENST00000359959	T	0.08634	3.07	1.91	1.91	0.25777	GPCR, rhodopsin-like superfamily (1);	0.259421	0.19931	U	0.102851	T	0.11707	0.0285	M	0.73598	2.24	0.28393	N	0.918987	B	0.10296	0.003	B	0.17979	0.02	T	0.09930	-1.0652	10	0.66056	D	0.02	.	9.2456	0.37523	1.0:0.0:0.0:0.0	.	91	Q8NG85	OR2L3_HUMAN	V	91	ENSP00000353044:I91V	ENSP00000353044:I91V	I	+	1	0	OR2L3	246290877	0.927000	0.31430	0.087000	0.20705	0.113000	0.19764	2.299000	0.43611	0.853000	0.35312	0.379000	0.24179	ATC		0.433	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		51	247	0	0	0	1	0	51	247				
SERPIND1	3053	broad.mit.edu	37	22	21133990	21133990	+	Silent	SNP	C	C	T	rs144089172		TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr22:21133990C>T	ENST00000215727.5	+	2	673	c.390C>T	c.(388-390)aaC>aaT	p.N130N	PI4KA_ENST00000572273.1_Intron|SERPIND1_ENST00000406799.1_Silent_p.N130N|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000466162.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	130					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	ACATCCTCAACGCCAAGTTCG	0.498																																						ENST00000215727.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(388-390)aaC>aaT		serpin peptidase inhibitor, clade D (heparin cofactor), member 1	Ardeparin(DB00407)	C	,	1,4405	2.1+/-5.4	0,1,2202	91.0	77.0	82.0		390,	-9.6	0.2	22	dbSNP_134	82	0,8600		0,0,4300	no	coding-synonymous,intron	SERPIND1,PI4KA	NM_000185.3,NM_058004.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	130/500,	21133990	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3053				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	g.chr22:21133990C>T	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"""Serine (or cysteine) peptidase inhibitors"""	4838	protein-coding gene	gene with protein product	"""heparin cofactor II"""	142360	"""serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"""	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.390C>T	22.37:g.21133990C>T						PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000255882.6_Intron|SERPIND1_ENST00000406799.1_Silent_p.N130N|PI4KA_ENST00000466162.1_Intron	p.N130N	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		2	673	+	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	130					B2RAI1|D3DX34|Q6IBZ5	Silent	SNP	ENST00000215727.5	37	c.390C>T	CCDS13783.1																																																																																				0.498	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	NM_000185		17	63	0	0	0	1	0	17	63				
EGFR	1956	broad.mit.edu	37	7	55223604	55223604	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr7:55223604G>T	ENST00000275493.2	+	8	1148	c.971G>T	c.(970-972)cGc>cTc	p.R324L	EGFR_ENST00000420316.2_Missense_Mutation_p.R324L|EGFR_ENST00000455089.1_Missense_Mutation_p.R279L|EGFR_ENST00000342916.3_Missense_Mutation_p.R324L|EGFR_ENST00000344576.2_Missense_Mutation_p.R324L|EGFR_ENST00000454757.2_Missense_Mutation_p.R271L|EGFR_ENST00000442591.1_Missense_Mutation_p.R324L	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	324					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.R324L(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GACGGCGTCCGCAAGTGTAAG	0.602		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		2	Substitution - Missense(2)	p.R324L(2)	central_nervous_system(2)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(970-972)cGc>cTc		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						46.0	43.0	44.0					7																	55223604		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55223604G>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.971G>T	7.37:g.55223604G>T	ENSP00000275493:p.Arg324Leu	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000420316.2_Missense_Mutation_p.R324L|EGFR_ENST00000455089.1_Missense_Mutation_p.R279L|EGFR_ENST00000342916.3_Missense_Mutation_p.R324L|EGFR_ENST00000344576.2_Missense_Mutation_p.R324L|EGFR_ENST00000442591.1_Missense_Mutation_p.R324L|EGFR_ENST00000454757.2_Missense_Mutation_p.R271L	p.R324L	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		8	1148	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		324					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.971G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.283415	0.80803	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	D;D;D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79	5.64	4.76	0.60689	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.050411	0.85682	D	0.000000	D	0.87317	0.6147	M	0.67953	2.075	0.47659	D	0.999489	B;P;D;P;P	0.60575	0.107;0.829;0.988;0.817;0.525	B;P;P;P;B	0.56563	0.021;0.615;0.801;0.481;0.285	D	0.88482	0.3069	10	0.87932	D	0	.	13.0565	0.58984	0.0778:0.0:0.9222:0.0	.	279;324;324;324;324	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	L	279;324;194;324;324;324;324;271;118	ENSP00000415559:R279L;ENSP00000342376:R324L;ENSP00000345973:R324L;ENSP00000413843:R324L;ENSP00000275493:R324L;ENSP00000410031:R324L;ENSP00000395243:R271L	ENSP00000275493:R324L	R	+	2	0	EGFR	55191098	1.000000	0.71417	0.997000	0.53966	0.342000	0.28953	4.954000	0.63631	1.386000	0.46466	0.655000	0.94253	CGC		0.602	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		207	32	1	0	1.69987e-119	1	1.8544e-119	207	32				
ABI3BP	25890	broad.mit.edu	37	3	100585771	100585771	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr3:100585771C>T	ENST00000284322.5	-	10	1070	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	ABI3BP_ENST00000471714.1_Missense_Mutation_p.E321K|ABI3BP_ENST00000495063.1_Missense_Mutation_p.E321K	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	321					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GTTTTAGATTCGGCAGGTAAT	0.373																																						ENST00000471714.1																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(961-963)Gaa>Aaa		ABI family, member 3 (NESH) binding protein							99.0	93.0	95.0					3																	100585771		1837	4091	5928	SO:0001583	missense	25890					extracellular space		g.chr3:100585771C>T	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.961G>A	3.37:g.100585771C>T	ENSP00000284322:p.Glu321Lys					ABI3BP_ENST00000284322.5_Missense_Mutation_p.E321K|ABI3BP_ENST00000495063.1_Missense_Mutation_p.E321K	p.E321K			Q7Z7G0	TARSH_HUMAN			10	1070	-			321					B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	c.961G>A	CCDS46880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.99|18.99	3.740803|3.740803	0.69304|0.69304	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000495063|ENST00000483129	T;T|.	0.25912|.	1.99;1.77|.	5.91|5.91	5.03|5.03	0.67393|0.67393	.|.	0.346472|.	0.31797|.	N|.	0.007052|.	T|T	0.70290|0.70290	0.3207|0.3207	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	D;P;D|.	0.89917|.	1.0;0.842;1.0|.	D;B;D|.	0.80764|.	0.991;0.214;0.994|.	T|T	0.67624|0.67624	-0.5623|-0.5623	10|5	0.13470|.	T|.	0.59|.	-12.4236|-12.4236	14.139|14.139	0.65308|0.65308	0.0:0.9225:0.0:0.0775|0.0:0.9225:0.0:0.0775	.|.	314;321;321|.	Q9H717;Q5JPC9;Q7Z7G0|.	.;.;TARSH_HUMAN|.	K|Q	321|96	ENSP00000420524:E321K;ENSP00000284322:E321K|.	ENSP00000284322:E321K|.	E|R	-|-	1|2	0|0	ABI3BP|ABI3BP	102068461|102068461	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	2.593000|2.593000	0.46180|0.46180	0.848000|0.848000	0.35191|0.35191	-0.797000|-0.797000	0.03246|0.03246	GAA|CGA		0.373	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			3	36	0	0	0	1	0	3	36				
RPS18	6222	broad.mit.edu	37	6	33243984	33243984	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr6:33243984G>A	ENST00000439602.2	+	5	433	c.323G>A	c.(322-324)cGt>cAt	p.R108H	RPS18_ENST00000476222.1_3'UTR|B3GALT4_ENST00000451237.1_5'Flank|RPS18_ENST00000474973.1_Missense_Mutation_p.R38H			P62269	RS18_HUMAN	ribosomal protein S18	108					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)|ribosome biogenesis (GO:0042254)|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)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	9						AACAAGCTCCGTGAAGACCTG	0.572																																						ENST00000439602.2																			0				kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	9						c.(322-324)cGt>cAt		ribosomal protein S18							41.0	41.0	41.0					6																	33243984		2203	4300	6503	SO:0001583	missense	6222				endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	rRNA binding|structural constituent of ribosome	g.chr6:33243984G>A	X69150	CCDS4771.1	6p21.3	2011-04-05			ENSG00000231500	ENSG00000231500		"""S ribosomal proteins"""	10401	protein-coding gene	gene with protein product		180473		D6S218E		8441687, 9582194	Standard	NM_022551		Approved	KE3, KE-3, HKE3, S18	uc003odp.1	P62269	OTTHUMG00000031053	ENST00000439602.2:c.323G>A	6.37:g.33243984G>A	ENSP00000393241:p.Arg108His					RPS18_ENST00000476222.1_3'UTR|RPS18_ENST00000474973.1_Missense_Mutation_p.R38H	p.R108H			P62269	RS18_HUMAN			5	433	+			108					P25232|Q5SUJ3|Q6IPF8	Missense_Mutation	SNP	ENST00000439602.2	37	c.323G>A	CCDS4771.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.903992	0.92035	.	.	ENSG00000231500	ENST00000439602;ENST00000474973	.	.	.	4.52	4.52	0.55395	Ribosomal protein S13-like, H2TH (1);	0.105033	0.64402	N	0.000008	T	0.64505	0.2604	M	0.93898	3.47	0.58432	D	0.999999	P	0.41041	0.736	B	0.39119	0.291	T	0.76372	-0.2983	9	0.62326	D	0.03	.	14.8543	0.70323	0.0:0.0:1.0:0.0	.	108	P62269	RS18_HUMAN	H	108;38	.	ENSP00000393241:R108H	R	+	2	0	RPS18	33351962	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	8.333000	0.90026	2.369000	0.80426	0.567000	0.79289	CGT		0.572	RPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076059.2			3	27	0	0	0	1	0	3	27				
C11orf63	79864	broad.mit.edu	37	11	122817281	122817281	+	Silent	SNP	G	G	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr11:122817281G>A	ENST00000531316.1	+	5	1802	c.1710G>A	c.(1708-1710)caG>caA	p.Q570Q	C11orf63_ENST00000227349.2_Silent_p.Q570Q			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	570					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		TAATGGAGCAGCATCAGCAAG	0.483																																						ENST00000227349.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1708-1710)caG>caA		chromosome 11 open reading frame 63							72.0	68.0	69.0					11																	122817281		2202	4299	6501	SO:0001819	synonymous_variant	79864							g.chr11:122817281G>A	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.1710G>A	11.37:g.122817281G>A						C11orf63_ENST00000531316.1_Silent_p.Q570Q	p.Q570Q	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	6	2007	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	570					A8K6G0|Q96GB5|Q9H5D6	Silent	SNP	ENST00000531316.1	37	c.1710G>A	CCDS8438.1																																																																																				0.483	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		12	60	0	0	0	1	0	12	60				
ASTL	431705	broad.mit.edu	37	2	96789808	96789808	+	Silent	SNP	C	C	T	rs148115152		TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr2:96789808C>T	ENST00000342380.2	-	9	1076	c.1077G>A	c.(1075-1077)tcG>tcA	p.S359S		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						GCTGCCTTGCCGAGGCCTCTG	0.662																																						ENST00000342380.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						c.(1075-1077)tcG>tcA		astacin-like metallo-endopeptidase (M12 family)		C		0,4406		0,0,2203	65.0	70.0	68.0		1077	0.7	0.5	2	dbSNP_134	68	1,8599		0,1,4299	no	coding-synonymous	ASTL	NM_001002036.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		359/432	96789808	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	431705				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr2:96789808C>T	AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"""sperm acrosomal SLLP1 binding"""	608860	"""astacin-like metalloendopeptidase (M12 family)"""			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.1077G>A	2.37:g.96789808C>T							p.S359S	NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN			9	1076	-			359						Silent	SNP	ENST00000342380.2	37	c.1077G>A	CCDS33249.1																																																																																				0.662	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1			13	73	0	0	0	1	0	13	73				
EDAR	10913	broad.mit.edu	37	2	109527458	109527458	+	Silent	SNP	G	G	A			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr2:109527458G>A	ENST00000258443.2	-	7	1030	c.600C>T	c.(598-600)atC>atT	p.I200I	EDAR_ENST00000409271.1_Silent_p.I200I|EDAR_ENST00000376651.1_Silent_p.I200I	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	200					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						ggacgatggcgatggccatga	0.577																																						ENST00000409271.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						c.(598-600)atC>atT		ectodysplasin A receptor							156.0	126.0	137.0					2																	109527458		2203	4300	6503	SO:0001819	synonymous_variant	10913				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	g.chr2:109527458G>A	AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"""Tumor necrosis factor receptor superfamily"""	2895	protein-coding gene	gene with protein product		604095	"""ectodysplasin 1, anhidrotic receptor"""	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.600C>T	2.37:g.109527458G>A						EDAR_ENST00000258443.2_Silent_p.I200I|EDAR_ENST00000376651.1_Silent_p.I200I	p.I200I			Q9UNE0	EDAR_HUMAN			8	1043	-			200					B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Silent	SNP	ENST00000258443.2	37	c.600C>T	CCDS2081.1																																																																																				0.577	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1			8	28	0	0	0	1	0	8	28				
MLLT6	4302	broad.mit.edu	37	17	36869336	36869336	+	Intron	SNP	G	G	A	rs566412406		TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr17:36869336G>A	ENST00000325718.7	+	8	910				MLLT6_ENST00000378137.5_Missense_Mutation_p.R317Q|CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6						regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					AGTGGGGGACGGCACTCAGGC	0.612			T	MLL	AL								G|||	1	0.000199681	0.0	0.0	5008	,	,		17909	0.0		0.001	False		,,,				2504	0.0					ENST00000378137.5				Dom	yes		17	17q21	4302	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"""			L	MLL		AL		0				breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(949-951)cGg>cAg		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6							95.0	91.0	92.0					17																	36869336		876	1991	2867	SO:0001627	intron_variant	4302				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding	g.chr17:36869336G>A		CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"""Zinc fingers, PHD-type"""	7138	protein-coding gene	gene with protein product	"""Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6"", ""trithorax homolog"""	600328	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"""			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.819+294G>A	17.37:g.36869336G>A						MLLT6_ENST00000325718.7_Intron	p.R317Q			P55198	AF17_HUMAN			9	1041	+	Breast(7;4.43e-21)		0					Q59F28|Q96IU3|Q9H5F6|Q9UF49	Missense_Mutation	SNP	ENST00000325718.7	37	c.950G>A	CCDS11327.1	.	.	.	.	.	.	.	.	.	.	G	4.570	0.105878	0.08780	.	.	ENSG00000108292	ENST00000378137	T	0.16196	2.36	3.47	-6.95	0.01628	.	.	.	.	.	T	0.08714	0.0216	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28299	-1.0048	8	0.49607	T	0.09	.	1.6218	0.02715	0.154:0.3447:0.2735:0.2279	.	317	E9PEP1	.	Q	317	ENSP00000367377:R317Q	ENSP00000367377:R317Q	R	+	2	0	MLLT6	34122862	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.417000	0.01034	-2.699000	0.00399	-0.693000	0.03709	CGG		0.612	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937		3	44	0	0	0	1	0	3	44				
ZC3H11A	9877	broad.mit.edu	37	1	203819140	203819140	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr1:203819140delA	ENST00000545588.1	+	14	5752	c.1925delA	c.(1924-1926)gaafs	p.E642fs	ZC3H11A_ENST00000367210.1_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000367212.3_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000332127.4_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000367214.1_Frame_Shift_Del_p.E642fs	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	642					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CAGACCTTGGAAAAAAGGGGT	0.418																																						ENST00000545588.1																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1924-1926)gafs		zinc finger CCCH-type containing 11A							55.0	54.0	54.0					1																	203819140		2203	4300	6503	SO:0001589	frameshift_variant	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203819140delA		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.1925delA	1.37:g.203819140delA	ENSP00000438527:p.Glu642fs					ZC3H11A_ENST00000367214.1_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000332127.4_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000367210.1_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000367212.3_Frame_Shift_Del_p.E642fs	p.E642fs	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		14	5752	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		642					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Frame_Shift_Del	DEL	ENST00000545588.1	37	c.1925delA	CCDS30978.1																																																																																				0.418	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		7	1785						7	1785	---	---	---	---
TMEM81	388730	broad.mit.edu	37	1	205052694	205052694	+	Frame_Shift_Del	DEL	C	C	-	rs562433962	byFrequency	TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr1:205052694delC	ENST00000367167.3	-	1	951	c.755delG	c.(754-756)ggcfs	p.G252fs		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	252						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CTGCTGCAGGCCCCCCCTTAG	0.537																																						ENST00000367167.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9						c.(754-756)gcfs		transmembrane protein 81							88.0	82.0	84.0					1																	205052694		2203	4300	6503	SO:0001589	frameshift_variant	388730					integral to membrane		g.chr1:205052694delC	BC061592	CCDS1450.1	1q32.1	2013-01-11			ENSG00000174529	ENSG00000174529		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32349	protein-coding gene	gene with protein product							Standard	NM_203376		Approved	UNQ2788, MGC75217, HC3107, KVLA2788	uc001hbt.3	Q6P7N7	OTTHUMG00000037103	ENST00000367167.3:c.755delG	1.37:g.205052694delC	ENSP00000356135:p.Gly252fs						p.G252fs	NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0923)		1	951	-	all_cancers(21;0.144)|Breast(84;0.0437)		252					Q6UVZ4	Frame_Shift_Del	DEL	ENST00000367167.3	37	c.755delG	CCDS1450.1																																																																																				0.537	TMEM81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090076.1	NM_203376		7	1355						7	1355	---	---	---	---
PCDHB6	56130	broad.mit.edu	37	5	140530216	140530216	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr5:140530216delT	ENST00000231136.1	+	1	378	c.378delT	c.(376-378)aatfs	p.N126fs	PCDHB6_ENST00000543635.1_5'UTR	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	126	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.N126K(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGATATAAATGACCACGCCC	0.453																																						ENST00000231136.1																			1	Substitution - Missense(1)	p.N126K(1)	lung(1)	cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(376-378)aafs									54.0	60.0	58.0					5																	140530216		2203	4300	6503	SO:0001589	frameshift_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140530216delT	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.378delT	5.37:g.140530216delT	ENSP00000231136:p.Asn126fs					PCDHB6_ENST00000543635.1_5'UTR	p.N126fs	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	378	+			126			Cadherin 1.		B2R8R9	Frame_Shift_Del	DEL	ENST00000231136.1	37	c.378delT	CCDS4248.1																																																																																				0.453	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		21	97						21	97	---	---	---	---
