#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
ZNF208	7757	broad.mit.edu	37	19	22155896	22155896	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr19:22155896A>C	ENST00000397126.4	-	4	2088	c.1940T>G	c.(1939-1941)aTt>aGt	p.I647S	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	647					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGAGACCTTAATAAAGGTTTT	0.398																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(1939-1941)aTt>aGt		zinc finger protein 208							108.0	112.0	110.0					19																	22155896		2126	4263	6389	SO:0001583	missense	7757							g.chr19:22155896A>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1940T>G	19.37:g.22155896A>C	ENSP00000380315:p.Ile647Ser					ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	p.I647S	NM_007153.3	NP_009084.2					4	2088	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.1940T>G	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.852850	0.00004	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.34472	1.36	2.49	-4.98	0.03019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12987	0.0315	.	.	.	0.09310	N	1	B	0.25441	0.126	B	0.28385	0.089	T	0.08932	-1.0698	8	0.02654	T	1	.	3.9444	0.09343	0.0966:0.28:0.437:0.1864	.	547	O43345	ZN208_HUMAN	S	647;547	ENSP00000380315:I647S	ENSP00000380315:I647S	I	-	2	0	ZNF208	21947736	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-9.082000	0.00014	-4.116000	0.00072	-4.061000	0.00012	ATT		0.398	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		5	87	0	0	0	1	0	5	87				
SPTBN2	6712	broad.mit.edu	37	11	66460020	66460020	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr11:66460020T>C	ENST00000533211.1	-	26	5508	c.5177A>G	c.(5176-5178)tAc>tGc	p.Y1726C	SPTBN2_ENST00000529997.1_Missense_Mutation_p.Y1726C|SPTBN2_ENST00000309996.2_Missense_Mutation_p.Y1726C			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1726					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CACATGCTCGTAGTCCTGGCC	0.647																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(5176-5178)tAc>tGc		spectrin, beta, non-erythrocytic 2							76.0	69.0	72.0					11																	66460020		2200	4295	6495	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66460020T>C	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.5177A>G	11.37:g.66460020T>C	ENSP00000432568:p.Tyr1726Cys					SPTBN2_ENST00000529997.1_Missense_Mutation_p.Y1726C|SPTBN2_ENST00000309996.2_Missense_Mutation_p.Y1726C	p.Y1726C			O15020	SPTN2_HUMAN			26	5508	-			1726					O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.5177A>G	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	t	14.77	2.634714	0.47049	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.50548	0.74;0.74;0.74	4.91	2.53	0.30540	.	0.137268	0.50627	D	0.000102	T	0.70885	0.3275	M	0.90977	3.165	0.50171	D	0.999854	D	0.89917	1.0	D	0.85130	0.997	T	0.71626	-0.4536	10	0.56958	D	0.05	.	9.3662	0.38226	0.2854:0.0:0.0:0.7146	.	1726	O15020	SPTN2_HUMAN	C	1726	ENSP00000432568:Y1726C;ENSP00000311489:Y1726C;ENSP00000433593:Y1726C	ENSP00000311489:Y1726C	Y	-	2	0	SPTBN2	66216596	0.999000	0.42202	0.932000	0.37286	0.409000	0.31022	2.711000	0.47177	0.341000	0.23771	-0.528000	0.04320	TAC		0.647	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		3	109	0	0	0	1	0	3	109				
USP35	57558	broad.mit.edu	37	11	77924826	77924826	+	Silent	SNP	C	C	T			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr11:77924826C>T	ENST00000529308.1	+	11	3285	c.3024C>T	c.(3022-3024)ggC>ggT	p.G1008G	USP35_ENST00000530267.1_Silent_p.G576G|USP35_ENST00000526425.1_Silent_p.G739G|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000441408.2_Silent_p.G594G	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	1008					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CTGCAGGTGGCAATGGTGGTG	0.582																																						ENST00000529308.1																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23						c.(3022-3024)ggC>ggT		ubiquitin specific peptidase 35							69.0	72.0	71.0					11																	77924826		2060	4185	6245	SO:0001819	synonymous_variant	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77924826C>T	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.3024C>T	11.37:g.77924826C>T						USP35_ENST00000530267.1_Silent_p.G576G|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Silent_p.G739G|USP35_ENST00000441408.2_Silent_p.G594G	p.G1008G	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		11	3285	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		1008						Silent	SNP	ENST00000529308.1	37	c.3024C>T	CCDS41693.1																																																																																				0.582	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		4	74	0	0	0	1	0	4	74				
ASMT	438	broad.mit.edu	37	X	1755354	1755354	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chrX:1755354C>T	ENST00000381229.4	+	7	763	c.727C>T	c.(727-729)Ccg>Tcg	p.P243S	ASMT_ENST00000381241.3_Missense_Mutation_p.P271S|ASMT_ENST00000509780.1_3'UTR|ASMT_ENST00000381233.3_Missense_Mutation_p.P196S			P46597	ASMT_HUMAN	acetylserotonin O-methyltransferase	243			P -> L (functional polymorphism with reduced enzyme activity; dbSNP:rs121918826). {ECO:0000269|PubMed:21251267, ECO:0000269|PubMed:22694957, ECO:0000269|PubMed:23349736}.		cellular nitrogen compound metabolic process (GO:0034641)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|negative regulation of male gonad development (GO:2000019)|small molecule metabolic process (GO:0044281)|translation (GO:0006412)	cytosol (GO:0005829)	acetylserotonin O-methyltransferase activity (GO:0017096)|identical protein binding (GO:0042802)|O-methyltransferase activity (GO:0008171)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Melatonin(DB01065)	AGACCCTCTTCCGGAAGCTGA	0.542																																						ENST00000381241.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16						c.(811-813)Ccg>Tcg		acetylserotonin O-methyltransferase							302.0	273.0	283.0					X																	1755354		2203	4296	6499	SO:0001583	missense	438				melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity	g.chrX:1755354C>T	M83779	CCDS14117.1, CCDS55364.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000196433	ENSG00000196433	2.1.1.4	"""Pseudoautosomal regions / PAR1"""	750	protein-coding gene	gene with protein product		300015, 402500				8397829, 7989373	Standard	NM_004043		Approved	HIOMT, ASMTY, HIOMTY	uc010ncy.3	P46597	OTTHUMG00000021065	ENST00000381229.4:c.727C>T	X.37:g.1755354C>T	ENSP00000370627:p.Pro243Ser					ASMT_ENST00000381229.4_Missense_Mutation_p.P243S|ASMT_ENST00000381233.3_Missense_Mutation_p.P196S|RP13-297E16.3_ENST00000509780.1_RNA	p.P271S	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN			8	1010	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	243					B2RC33|Q16598|Q5JQ72|Q5JQ73	Missense_Mutation	SNP	ENST00000381229.4	37	c.811C>T		.	.	.	.	.	.	.	.	.	.	c	12.85	2.062455	0.36373	.	.	ENSG00000196433	ENST00000381241;ENST00000381229;ENST00000381233;ENST00000432523	T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49	2.33	2.33	0.28932	.	0.119825	0.56097	U	0.000021	D	0.91395	0.7285	H	0.94582	3.555	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84283	0.0495	10	0.72032	D	0.01	.	12.6028	0.56506	0.0:1.0:0.0:0.0	.	196;271	P46597-2;P46597-3	.;.	S	271;243;196;22	ENSP00000370639:P271S;ENSP00000370627:P243S;ENSP00000370631:P196S;ENSP00000392053:P22S	ENSP00000370627:P243S	P	+	1	0	ASMT	1715354	0.998000	0.40836	0.017000	0.16124	0.068000	0.16541	5.597000	0.67577	0.958000	0.37956	0.453000	0.30009	CCG		0.542	ASMT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000055612.1	NM_004043		17	267	0	0	0	1	0	17	267				
FADS1	3992	broad.mit.edu	37	11	61574167	61574167	+	Silent	SNP	C	C	T			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr11:61574167C>T	ENST00000350997.7	-	6	1177	c.945G>A	c.(943-945)ccG>ccA	p.P315P	FADS1_ENST00000460649.1_5'Flank|FADS2_ENST00000574708.1_Intron|FADS1_ENST00000542506.1_Silent_p.P174P|FADS1_ENST00000536991.1_5'Flank|FADS1_ENST00000433932.1_Silent_p.P174P	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN	fatty acid desaturase 1	258					alpha-linolenic acid metabolic process (GO:0036109)|cell-cell signaling (GO:0007267)|cellular lipid metabolic process (GO:0044255)|cellular response to starvation (GO:0009267)|icosanoid biosynthetic process (GO:0046456)|linoleic acid metabolic process (GO:0043651)|phospholipid biosynthetic process (GO:0008654)|regulation of cell differentiation (GO:0045595)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	C-5 sterol desaturase activity (GO:0000248)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GGTGGTTGTACGGCATATATT	0.483																																						ENST00000350997.7																			0				central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4						c.(943-945)ccG>ccA		fatty acid desaturase 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						256.0	249.0	251.0					11																	61574167		2009	4182	6191	SO:0001819	synonymous_variant	3992				cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport	endoplasmic reticulum membrane|integral to membrane|microsome	C-5 sterol desaturase activity|heme binding|protein binding	g.chr11:61574167C>T		CCDS8011.2	11q12-q13.1	2013-01-25			ENSG00000149485	ENSG00000149485	1.14.19.3	"""Fatty acid desaturases"""	3574	protein-coding gene	gene with protein product	"""delta-5 desaturase"""	606148		LLCDL1			Standard	NM_013402		Approved	D5D, FADSD5, TU12, FADS6	uc010rlm.2	O60427	OTTHUMG00000157155	ENST00000350997.7:c.945G>A	11.37:g.61574167C>T						FADS1_ENST00000542506.1_Silent_p.P174P|FADS2_ENST00000574708.1_Intron|FADS1_ENST00000433932.1_Silent_p.P174P	p.P315P	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN			6	1177	-			258					A8K0I7|B2RAI0|Q53GM5|Q8N3A6|Q8NCC7|Q8NCG0|Q96I39|Q96SV3|Q96T10|Q9NRP8|Q9NYX1	Silent	SNP	ENST00000350997.7	37	c.945G>A	CCDS8011.2																																																																																				0.483	FADS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347648.2	NM_013402		20	110	0	0	0	1	0	20	110				
PRKG2	5593	broad.mit.edu	37	4	82064095	82064095	+	Silent	SNP	G	G	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr4:82064095G>A	ENST00000395578.1	-	11	1376	c.1260C>T	c.(1258-1260)tcC>tcT	p.S420S	PRKG2_ENST00000418486.2_Silent_p.S420S|PRKG2_ENST00000264399.1_Silent_p.S420S|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000545647.1_5'UTR			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	420					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						AGTTAGACATGGACCGCCTGT	0.438																																						ENST00000395578.1																			0				NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						c.(1258-1260)tcC>tcT		protein kinase, cGMP-dependent, type II							111.0	109.0	110.0					4																	82064095		2203	4300	6503	SO:0001819	synonymous_variant	5593				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr4:82064095G>A	X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.1260C>T	4.37:g.82064095G>A						PRKG2_ENST00000264399.1_Silent_p.S420S|PRKG2_ENST00000418486.2_Silent_p.S420S|PRKG2_ENST00000545647.1_5'UTR|PRKG2_ENST00000509169.1_5'UTR	p.S420S			Q13237	KGP2_HUMAN			11	1376	-			420					B4DMX3|E7EPE6|O00125|O60916	Silent	SNP	ENST00000395578.1	37	c.1260C>T	CCDS3589.1																																																																																				0.438	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259		13	69	0	0	0	1	0	13	69				
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	40								p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I40T(4)	prostate(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(118-120)aTc>aCc																																						SO:0001583	missense	0							g.chr20:29625875T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.119T>C	20.37:g.29625875T>C	ENSP00000278882:p.Ile40Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T	p.I40T							5	499	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.119T>C		.	.	.	.	.	.	.	.	.	.	t	10.51	1.369778	0.24771	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.51071	0.72	1.68	1.68	0.24146	.	0.052751	0.64402	D	0.000001	T	0.59865	0.2225	.	.	.	0.51482	D	0.999924	P	0.49862	0.929	D	0.64687	0.928	T	0.59386	-0.7464	9	0.52906	T	0.07	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	45	F5H5R5	.	T	40;45;40	ENSP00000408863:I45T	ENSP00000278882:I40T	I	+	2	0	FRG1B	28239536	1.000000	0.71417	0.982000	0.44146	0.025000	0.11179	6.565000	0.73974	1.028000	0.39785	0.155000	0.16302	ATC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	58	0	0	0	1	0	6	58				
LRIG1	26018	broad.mit.edu	37	3	66428192	66428192	+	IGR	SNP	G	G	A	rs147162139		TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr3:66428192G>A	ENST00000273261.3	-	0	5273				SLC25A26_ENST00000336733.6_Silent_p.T174T|SLC25A26_ENST00000413054.1_3'UTR|SLC25A26_ENST00000354883.6_Silent_p.T262T|LRIG1_ENST00000496559.2_5'Flank|SLC25A26_ENST00000536651.1_3'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1						innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		ATGACCGAACGCACAGCTTGC	0.502																																						ENST00000354883.6																			0				endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)|stomach(2)|urinary_tract(1)	8						c.(784-786)acG>acA		solute carrier family 25 (S-adenosylmethionine carrier), member 26		G	,	0,4406		0,0,2203	141.0	140.0	140.0		522,786	-12.1	0.0	3	dbSNP_134	140	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SLC25A26	NM_001164796.1,NM_173471.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	174/187,262/275	66428192	1,13005	2203	4300	6503	SO:0001628	intergenic_variant	115286					integral to membrane|mitochondrial inner membrane|nucleus	S-adenosylmethionine transmembrane transporter activity	g.chr3:66428192G>A	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727		3.37:g.66428192G>A						SLC25A26_ENST00000336733.5_Silent_p.T174T|SLC25A26_ENST00000536651.1_3'UTR	p.T262T			Q70HW3	SAMC_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00046)|KIRC - Kidney renal clear cell carcinoma(15;0.0515)|Kidney(15;0.0648)	11	1514	+		Lung NSC(201;0.00774)	262					Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Silent	SNP	ENST00000273261.3	37	c.786G>A	CCDS33783.1																																																																																				0.502	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		4	198	0	0	0	1	0	4	198				
ZNF785	146540	broad.mit.edu	37	16	30594188	30594188	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr16:30594188C>A	ENST00000395216.2	-	3	1070	c.911G>T	c.(910-912)cGc>cTc	p.R304L	AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA|ZNF785_ENST00000470110.1_Missense_Mutation_p.R289L	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	304					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						GGTGTGTATGCGCCTGTGGAT	0.647																																						ENST00000395216.2																			0				endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						c.(910-912)cGc>cTc		zinc finger protein 785							54.0	59.0	57.0					16																	30594188		2197	4300	6497	SO:0001583	missense	146540				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30594188C>A	BC040642	CCDS10685.1	16p11.2	2013-01-08			ENSG00000197162	ENSG00000197162		"""Zinc fingers, C2H2-type"", ""-"""	26496	protein-coding gene	gene with protein product						10493829	Standard	NM_152458		Approved	FLJ32130	uc002dyu.3	A8K8V0	OTTHUMG00000132398	ENST00000395216.2:c.911G>T	16.37:g.30594188C>A	ENSP00000378642:p.Arg304Leu					AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA|ZNF785_ENST00000470110.1_Missense_Mutation_p.R289L	p.R304L	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN			3	1070	-			304					O75701|Q8IW91|Q8WV14|Q96MN0	Missense_Mutation	SNP	ENST00000395216.2	37	c.911G>T	CCDS10685.1	.	.	.	.	.	.	.	.	.	.	c	17.06	3.292803	0.60086	.	.	ENSG00000197162	ENST00000470110;ENST00000395222;ENST00000395216	T;T	0.25085	1.82;1.82	4.03	3.04	0.35103	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38506	0.1043	L	0.47016	1.485	0.09310	N	1	P;D;P	0.89917	0.953;1.0;0.942	P;D;B	0.83275	0.584;0.996;0.348	T	0.11591	-1.0581	9	0.72032	D	0.01	.	4.7595	0.13100	0.2164:0.673:0.0:0.1106	.	269;304;289	B4DQL1;A8K8V0;A8K8V0-2	.;ZN785_HUMAN;.	L	289;269;304	ENSP00000420340:R289L;ENSP00000378642:R304L	ENSP00000378642:R304L	R	-	2	0	ZNF785	30501689	0.000000	0.05858	0.001000	0.08648	0.042000	0.13812	-0.383000	0.07398	0.888000	0.36160	0.644000	0.83932	CGC		0.647	ZNF785-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255529.2	NM_152458		3	47	1	0	0.000602214	1	0.00061967	3	47				
TEX15	56154	broad.mit.edu	37	8	30701810	30701810	+	Missense_Mutation	SNP	G	G	A	rs186835775		TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr8:30701810G>A	ENST00000256246.2	-	1	4798	c.4724C>T	c.(4723-4725)aCg>aTg	p.T1575M		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1575					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TAAAATAGGCGTATGATTAAC	0.388													G|||	1	0.000199681	0.0	0.0	5008	,	,		20286	0.001		0.0	False		,,,				2504	0.0					ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(4723-4725)aCg>aTg		testis expressed 15							148.0	147.0	148.0					8																	30701810		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30701810G>A	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.4724C>T	8.37:g.30701810G>A	ENSP00000256246:p.Thr1575Met						p.T1575M	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	4798	-			1575						Missense_Mutation	SNP	ENST00000256246.2	37	c.4724C>T	CCDS6080.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.46	1.645582	0.29246	.	.	ENSG00000133863	ENST00000256246	T	0.09163	3.01	5.47	-10.6	0.00265	.	1.940030	0.02070	N	0.051467	T	0.02342	0.0072	N	0.00707	-1.245	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.48246	-0.9052	10	0.87932	D	0	.	2.3924	0.04381	0.1879:0.4347:0.1513:0.2261	.	1575	Q9BXT5	TEX15_HUMAN	M	1575	ENSP00000256246:T1575M	ENSP00000256246:T1575M	T	-	2	0	TEX15	30821352	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.226000	0.01211	-1.004000	0.03421	-0.290000	0.09829	ACG		0.388	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			9	104	0	0	0	1	0	9	104				
MMP14	4323	broad.mit.edu	37	14	23312555	23312555	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr14:23312555T>C	ENST00000311852.6	+	5	1039	c.778T>C	c.(778-780)Ttt>Ctt	p.F260L	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	260					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	CATGGCACCCTTTTACCAGTG	0.587																																						ENST00000311852.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(778-780)Ttt>Ctt		matrix metallopeptidase 14 (membrane-inserted)							107.0	103.0	105.0					14																	23312555		2203	4300	6503	SO:0001583	missense	4323					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr14:23312555T>C		CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"""membrane type 1 metalloprotease"""	600754	"""matrix metalloproteinase 14 (membrane-inserted)"""			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.778T>C	14.37:g.23312555T>C	ENSP00000308208:p.Phe260Leu					MMP14_ENST00000548162.1_3'UTR	p.F260L	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN		GBM - Glioblastoma multiforme(265;0.00551)	5	1039	+	all_cancers(95;9.47e-05)		260					A8K5L0|Q6GSF3|Q92678	Missense_Mutation	SNP	ENST00000311852.6	37	c.778T>C	CCDS9577.1	.	.	.	.	.	.	.	.	.	.	T	34	5.371239	0.95923	.	.	ENSG00000157227	ENST00000311852	T	0.19806	2.12	5.54	5.54	0.83059	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.094116	0.85682	D	0.000000	T	0.34106	0.0886	L	0.58669	1.825	0.80722	D	1	D	0.53462	0.96	P	0.52598	0.703	T	0.04427	-1.0952	10	0.51188	T	0.08	.	14.6441	0.68748	0.0:0.0:0.0:1.0	.	260	P50281	MMP14_HUMAN	L	260	ENSP00000308208:F260L	ENSP00000308208:F260L	F	+	1	0	MMP14	22382395	1.000000	0.71417	0.938000	0.37757	0.861000	0.49209	8.040000	0.89188	2.107000	0.64212	0.460000	0.39030	TTT		0.587	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3	NM_004995		4	166	0	0	0	1	0	4	166				
PRDM9	56979	broad.mit.edu	37	5	23527693	23527693	+	Silent	SNP	T	T	C			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr5:23527693T>C	ENST00000296682.3	+	11	2678	c.2496T>C	c.(2494-2496)taT>taC	p.Y832Y		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	832					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.Y832Y(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGAAGCCCTATGTCTGCAGGG	0.587										HNSCC(3;0.000094)																												ENST00000296682.3																			1	Substitution - coding silent(1)	p.Y832Y(1)	endometrium(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(2494-2496)taT>taC		PR domain containing 9							48.0	60.0	56.0					5																	23527693		2166	4285	6451	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23527693T>C	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2496T>C	5.37:g.23527693T>C		HNSCC(3;0.000094)					p.Y832Y	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			11	2678	+			832					B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.2496T>C	CCDS43307.1																																																																																				0.587	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		3	158	0	0	0	1	0	3	158				
EIF3M	10480	broad.mit.edu	37	11	32610273	32610273	+	Silent	SNP	G	G	A	rs531170953	byFrequency	TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr11:32610273G>A	ENST00000531120.1	+	3	372	c.309G>A	c.(307-309)ctG>ctA	p.L103L	EIF3M_ENST00000524896.1_Intron	NM_006360.4	NP_006351.2			eukaryotic translation initiation factor 3, subunit M											breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16	Breast(20;0.109)					CTCTGAGACTGCAGTTGTAAG	0.408																																						ENST00000531120.1																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(307-309)ctG>ctA		eukaryotic translation initiation factor 3, subunit M							142.0	135.0	137.0					11																	32610273		2202	4299	6501	SO:0001819	synonymous_variant	10480					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr11:32610273G>A	AK131064	CCDS7880.1	11p13	2012-12-13	2007-07-27	2007-07-27	ENSG00000149100	ENSG00000149100			24460	protein-coding gene	gene with protein product	"""transport and golgi organization 7 homolog (Drosophila)"""	609641	"""PCI domain containing 1 (herpesvirus entry mediator)"""	PCID1		15919898, 15919899	Standard	NM_006360		Approved	hfl-B5, FLJ29030, GA17, eIF3m, TANGO7	uc001mtu.4	Q7L2H7	OTTHUMG00000166258	ENST00000531120.1:c.309G>A	11.37:g.32610273G>A						EIF3M_ENST00000524896.1_Intron	p.L103L	NM_006360.4	NP_006351.2	Q7L2H7	EIF3M_HUMAN			3	372	+	Breast(20;0.109)		103						Silent	SNP	ENST00000531120.1	37	c.309G>A	CCDS7880.1																																																																																				0.408	EIF3M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388762.2	NM_006360		4	122	0	0	0	1	0	4	122				
ANKDD1A	348094	broad.mit.edu	37	15	65234714	65234714	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr15:65234714G>T	ENST00000380230.3	+	10	947	c.918G>T	c.(916-918)ttG>ttT	p.L306F	ANKDD1A_ENST00000357698.3_Missense_Mutation_p.L306F|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.L306F|ANKDD1A_ENST00000395723.1_Missense_Mutation_p.L215F	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	306					signal transduction (GO:0007165)					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						TCCCTGCCTTGGTCCGGCTCC	0.602																																						ENST00000380230.3																			0				NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						c.(916-918)ttG>ttT		ankyrin repeat and death domain containing 1A							85.0	56.0	66.0					15																	65234714		2202	4299	6501	SO:0001583	missense	348094				signal transduction			g.chr15:65234714G>T		CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839		"""Ankyrin repeat domain containing"""	28002	protein-coding gene	gene with protein product						12477932	Standard	NM_182703		Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.918G>T	15.37:g.65234714G>T	ENSP00000369579:p.Leu306Phe					ANKDD1A_ENST00000395723.1_Missense_Mutation_p.L215F|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.L306F|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.L306F	p.L306F	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN			10	947	+			306					Q495B2|Q495B3|Q8N7A0|Q8NBS5	Missense_Mutation	SNP	ENST00000380230.3	37	c.918G>T	CCDS10197.2	.	.	.	.	.	.	.	.	.	.	G	11.64	1.699175	0.30142	.	.	ENSG00000166839	ENST00000380230;ENST00000357698;ENST00000395720;ENST00000395723	T;T;T;T	0.65364	-0.1;-0.15;-0.1;-0.15	4.63	2.64	0.31445	Ankyrin repeat-containing domain (3);	0.122335	0.33813	N	0.004526	T	0.53498	0.1800	L	0.60845	1.875	0.31129	N	0.707932	P	0.39920	0.695	B	0.39617	0.305	T	0.61667	-0.7016	10	0.87932	D	0	-5.5882	5.0961	0.14735	0.1755:0.0:0.6489:0.1756	.	306	Q495B1	AKD1A_HUMAN	F	306;306;306;215	ENSP00000369579:L306F;ENSP00000350329:L306F;ENSP00000379070:L306F;ENSP00000379073:L215F	ENSP00000350329:L306F	L	+	3	2	ANKDD1A	63021767	0.878000	0.30173	0.145000	0.22337	0.786000	0.44442	0.278000	0.18753	1.114000	0.41781	0.561000	0.74099	TTG		0.602	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256705.2	NM_182703		3	42	1	0	0.0215528	1	0.0218607	3	42				
STT3A	3703	broad.mit.edu	37	11	125472775	125472775	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr11:125472775G>A	ENST00000529196.1	+	6	555	c.349G>A	c.(349-351)Gtg>Atg	p.V117M	STT3A_ENST00000531491.1_Missense_Mutation_p.V25M|STT3A_ENST00000392708.4_Missense_Mutation_p.V117M			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	117				V -> M (in Ref. 3; BAG58686). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		GAATGTCTGTGTGTTCCTGGC	0.488																																						ENST00000392708.4																			0				NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33						c.(349-351)Gtg>Atg		STT3A, subunit of the oligosaccharyltransferase complex (catalytic)							242.0	199.0	214.0					11																	125472775		2201	4299	6500	SO:0001583	missense	3703				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity	g.chr11:125472775G>A	BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"""dolichyl-diphosphooligosaccharide protein glycotransferase"""	601134	"""integral membrane protein 1"", ""STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)"", ""STT3A, cataylic subunit of the oligosaccharyltransferase complex"""	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.349G>A	11.37:g.125472775G>A	ENSP00000436962:p.Val117Met					STT3A_ENST00000531491.1_Missense_Mutation_p.V25M|STT3A_ENST00000529196.1_Missense_Mutation_p.V117M	p.V117M	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)	5	508	+	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)	117					B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Missense_Mutation	SNP	ENST00000529196.1	37	c.349G>A	CCDS8458.1	.	.	.	.	.	.	.	.	.	.	G	33	5.226775	0.95173	.	.	ENSG00000134910	ENST00000527606;ENST00000392708;ENST00000529196;ENST00000531491;ENST00000529886	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.90239	0.6948	H	0.96604	3.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92733	0.6201	9	0.87932	D	0	-18.4132	19.7913	0.96458	0.0:0.0:1.0:0.0	.	25;117	E9PNQ1;P46977	.;STT3A_HUMAN	M	117;117;117;25;117	.	ENSP00000376472:V117M	V	+	1	0	STT3A	124977985	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.840000	0.97914	0.655000	0.94253	GTG		0.488	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386691.1	NM_152713		22	55	0	0	0	1	0	22	55				
SCRN2	90507	broad.mit.edu	37	17	45916217	45916217	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr17:45916217G>A	ENST00000290216.9	-	5	837	c.712C>T	c.(712-714)Cgc>Tgc	p.R238C	SCRN2_ENST00000407215.3_Missense_Mutation_p.R238C|SCRN2_ENST00000584123.1_Missense_Mutation_p.R246C	NM_001145023.1|NM_138355.3	NP_001138495.1|NP_612364.2	Q96FV2	SCRN2_HUMAN	secernin 2	238						extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						GCCTCCATGCGCACAGGCTGC	0.672																																						ENST00000407215.3																			0				cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						c.(712-714)Cgc>Tgc		secernin 2							76.0	80.0	78.0					17																	45916217		2203	4300	6503	SO:0001583	missense	90507				proteolysis		dipeptidase activity	g.chr17:45916217G>A	BC002980	CCDS11519.1, CCDS45723.1	17q21	2008-02-05							30381	protein-coding gene	gene with protein product		614966				12221138	Standard	NM_001145023		Approved		uc002imd.3	Q96FV2		ENST00000290216.9:c.712C>T	17.37:g.45916217G>A	ENSP00000290216:p.Arg238Cys					SCRN2_ENST00000290216.9_Missense_Mutation_p.R238C|SCRN2_ENST00000584123.1_Missense_Mutation_p.R246C	p.R238C			Q96FV2	SCRN2_HUMAN			5	793	-			238					A8K3N1|B7Z8S7|E9PBV5|Q96AC3|Q9BU04	Missense_Mutation	SNP	ENST00000290216.9	37	c.712C>T	CCDS11519.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.391200	0.82902	.	.	ENSG00000141295	ENST00000290216;ENST00000407215	T;T	0.09911	3.08;2.93	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.37625	0.1010	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.11227	-1.0596	10	0.56958	D	0.05	-25.7155	18.197	0.89825	0.0:0.0:1.0:0.0	.	238;238;238	E9PBV5;Q96FV2;B7Z8S7	.;SCRN2_HUMAN;.	C	238	ENSP00000290216:R238C;ENSP00000383935:R238C	ENSP00000290216:R238C	R	-	1	0	SCRN2	43271216	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.415000	0.59809	2.588000	0.87417	0.655000	0.94253	CGC		0.672	SCRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441383.1	NM_138355		5	136	0	0	0	1	0	5	136				
QRICH1	54870	broad.mit.edu	37	3	49094329	49094329	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr3:49094329T>G	ENST00000395443.2	-	3	1776	c.1304A>C	c.(1303-1305)cAg>cCg	p.Q435P	QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000424300.1_Missense_Mutation_p.Q435P|QRICH1_ENST00000357496.2_Missense_Mutation_p.Q435P	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	435	Gln-rich.					nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		ctgctgctgctgtggtggtgg	0.562																																						ENST00000395443.2																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(1303-1305)cAg>cCg		glutamine-rich 1							56.0	59.0	58.0					3																	49094329		2203	4300	6503	SO:0001583	missense	54870							g.chr3:49094329T>G		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.1304A>C	3.37:g.49094329T>G	ENSP00000378830:p.Gln435Pro					QRICH1_ENST00000357496.2_Missense_Mutation_p.Q435P|QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000424300.1_Missense_Mutation_p.Q435P	p.Q435P	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	1776	-			435			Gln-rich.		Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	37	c.1304A>C	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	T	5.645	0.303697	0.10678	.	.	ENSG00000198218	ENST00000395443;ENST00000357496;ENST00000424300	.	.	.	5.43	1.78	0.24846	.	0.841724	0.11273	N	0.581264	T	0.28333	0.0700	N	0.08118	0	0.30548	N	0.765714	B	0.02656	0.0	B	0.01281	0.0	T	0.19679	-1.0298	9	0.28530	T	0.3	-0.0185	13.1216	0.59329	0.0:0.0:0.2998:0.7002	.	435	Q2TAL8	QRIC1_HUMAN	P	435	.	ENSP00000350094:Q435P	Q	-	2	0	QRICH1	49069333	0.520000	0.26250	0.659000	0.29680	0.912000	0.54170	0.726000	0.25984	0.069000	0.16605	0.533000	0.62120	CAG		0.562	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		3	66	0	0	0	1	0	3	66				
MADD	8567	broad.mit.edu	37	11	47296303	47296303	+	Silent	SNP	G	G	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr11:47296303G>A	ENST00000311027.5	+	3	417	c.252G>A	c.(250-252)aaG>aaA	p.K84K	MADD_ENST00000395344.3_Silent_p.K84K|MADD_ENST00000402799.1_Silent_p.K84K|MADD_ENST00000406482.1_Silent_p.K84K|MADD_ENST00000342922.4_Silent_p.K84K|MADD_ENST00000402192.2_Silent_p.K84K|MADD_ENST00000407859.3_Silent_p.K84K|MADD_ENST00000349238.3_Silent_p.K84K|RP11-17G12.3_ENST00000545474.1_RNA|MADD_ENST00000395336.3_Silent_p.K84K|RP11-17G12.3_ENST00000543925.1_RNA	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TCACTGACAAGGACACTGGAG	0.567																																						ENST00000342922.4																			0				breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84						c.(250-252)aaG>aaA		MAP-kinase activating death domain							118.0	115.0	116.0					11																	47296303		2201	4298	6499	SO:0001819	synonymous_variant	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47296303G>A	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.252G>A	11.37:g.47296303G>A						MADD_ENST00000395344.3_Silent_p.K84K|MADD_ENST00000349238.3_Silent_p.K84K|MADD_ENST00000311027.5_Silent_p.K84K|MADD_ENST00000407859.3_Silent_p.K84K|MADD_ENST00000402799.1_Silent_p.K84K|MADD_ENST00000406482.1_Silent_p.K84K|MADD_ENST00000402192.2_Silent_p.K84K|MADD_ENST00000395336.3_Silent_p.K84K	p.K84K	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	3	609	+			84			UDENN.			Silent	SNP	ENST00000311027.5	37	c.252G>A	CCDS7930.1																																																																																				0.567	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			3	135	0	0	0	1	0	3	135				
OR11H4	390442	broad.mit.edu	37	14	20711208	20711208	+	Silent	SNP	C	C	T	rs150420661		TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr14:20711208C>T	ENST00000315409.2	+	1	311	c.258C>T	c.(256-258)tcC>tcT	p.S86S		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		ATGTGTCCTCCACTATTCCTA	0.453																																						ENST00000315409.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29						c.(256-258)tcC>tcT		olfactory receptor, family 11, subfamily H, member 4		C		1,4405	2.1+/-5.4	0,1,2202	167.0	162.0	164.0		258	3.7	1.0	14	dbSNP_134	164	0,8600		0,0,4300	no	coding-synonymous	OR11H4	NM_001004479.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		86/325	20711208	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	390442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20711208C>T		CCDS32034.1	14q11.2	2013-09-24			ENSG00000176198	ENSG00000176198		"""GPCR / Class A : Olfactory receptors"""	15347	protein-coding gene	gene with protein product							Standard	NM_001004479		Approved		uc010tld.2	Q8NGC9	OTTHUMG00000170852	ENST00000315409.2:c.258C>T	14.37:g.20711208C>T							p.S86S	NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)	1	311	+	all_cancers(95;0.000888)		86					B2RNQ4|Q6IF07	Silent	SNP	ENST00000315409.2	37	c.258C>T	CCDS32034.1																																																																																				0.453	OR11H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410678.1			5	166	0	0	0	1	0	5	166				
FGF5	2250	broad.mit.edu	37	4	81207627	81207627	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr4:81207627G>A	ENST00000312465.7	+	3	834	c.608G>A	c.(607-609)aGc>aAc	p.S203N	FGF5_ENST00000456523.3_3'UTR|FGF5_ENST00000503413.1_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	203					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						CGAGGGTGCAGCCCCCGGGTT	0.473																																						ENST00000312465.7																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(607-609)aGc>aAc		fibroblast growth factor 5							75.0	83.0	80.0					4																	81207627		2203	4300	6503	SO:0001583	missense	2250				cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity	g.chr4:81207627G>A	M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"""Endogenous ligands"""	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.608G>A	4.37:g.81207627G>A	ENSP00000311697:p.Ser203Asn					FGF5_ENST00000503413.1_3'UTR|FGF5_ENST00000456523.3_3'UTR	p.S203N	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN			3	834	+			203					B2R554|O75846|Q3Y8M3|Q8NF90	Missense_Mutation	SNP	ENST00000312465.7	37	c.608G>A	CCDS34021.1	.	.	.	.	.	.	.	.	.	.	G	32	5.132963	0.94517	.	.	ENSG00000138675	ENST00000312465	T	0.76578	-1.03	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.84538	0.5494	L	0.38175	1.15	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85190	0.1009	10	0.72032	D	0.01	.	20.0851	0.97797	0.0:0.0:1.0:0.0	.	203	P12034	FGF5_HUMAN	N	203	ENSP00000311697:S203N	ENSP00000311697:S203N	S	+	2	0	FGF5	81426651	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	9.800000	0.99124	2.758000	0.94735	0.650000	0.86243	AGC		0.473	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252627.2			3	91	0	0	0	1	0	3	91				
PRKCB	5579	broad.mit.edu	37	16	24105528	24105528	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr16:24105528T>C	ENST00000321728.7	+	7	906	c.731T>C	c.(730-732)aTt>aCt	p.I244T	PRKCB_ENST00000303531.7_Missense_Mutation_p.I244T|PRKCB_ENST00000482000.1_3'UTR	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	244	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	TCAGTAGAGATTTGGGATTGG	0.418																																						ENST00000303531.7																			0				central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9						c.(730-732)aTt>aCt		protein kinase C, beta	Vitamin E(DB00163)						154.0	141.0	145.0					16																	24105528		2197	4300	6497	SO:0001583	missense	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24105528T>C	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.731T>C	16.37:g.24105528T>C	ENSP00000318315:p.Ile244Thr					PRKCB_ENST00000321728.7_Missense_Mutation_p.I244T|PRKCB_ENST00000482000.1_3'UTR	p.I244T	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN			7	883	+			244			C2.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.731T>C	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	T	17.04	3.287943	0.59976	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.49139	0.79;0.79	5.52	5.52	0.82312	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.060545	0.64402	D	0.000003	T	0.47525	0.1450	L	0.46885	1.475	0.58432	D	0.999997	B;B	0.20780	0.039;0.048	B;B	0.33121	0.098;0.158	T	0.42430	-0.9452	10	0.42905	T	0.14	.	14.8443	0.70249	0.0:0.0:0.0:1.0	.	244;244	P05771-2;P05771	.;KPCB_HUMAN	T	244	ENSP00000318315:I244T;ENSP00000305355:I244T	ENSP00000305355:I244T	I	+	2	0	PRKCB	24013029	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.643000	0.83403	2.088000	0.63022	0.533000	0.62120	ATT		0.418	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		17	52	0	0	0	1	0	17	52				
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	lincRNA	SNP	G	G	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1				long intergenic non-protein coding RNA 264																		ACCAAGCCCAGTGGACAGATG	0.443																																						ENST00000412114.1																			0																																																			0							g.chr10:26880266G>A			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880266G>A								NR_026793.1						0	501	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.443	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		5	42	0	0	0	1	0	5	42				
CLGN	1047	broad.mit.edu	37	4	141317054	141317054	+	Silent	SNP	A	A	G	rs200382827		TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr4:141317054A>G	ENST00000325617.5	-	10	1508	c.1068T>C	c.(1066-1068)ggT>ggC	p.G356G	CLGN_ENST00000537281.1_Silent_p.G356G|CLGN_ENST00000414773.1_Silent_p.G356G	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	356					binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					GTTTCCACTCACCACACCCAA	0.433													A|||	1	0.000199681	0.0	0.0	5008	,	,		16351	0.0		0.001	False		,,,				2504	0.0					ENST00000325617.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25						c.(1066-1068)ggT>ggC		calmegin							99.0	93.0	95.0					4																	141317054		2203	4300	6503	SO:0001819	synonymous_variant	1047				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding	g.chr4:141317054A>G	D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132			2060	protein-coding gene	gene with protein product		601858					Standard	NM_004362		Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.1068T>C	4.37:g.141317054A>G						CLGN_ENST00000414773.1_Silent_p.G356G|CLGN_ENST00000537281.1_Silent_p.G356G	p.G356G	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN			10	1508	-	all_hematologic(180;0.162)		356					B3KS90|B4DXV8|D3DNY8	Silent	SNP	ENST00000325617.5	37	c.1068T>C	CCDS3751.1																																																																																				0.433	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257272.2	NM_004362		3	63	0	0	0	1	0	3	63				
OR10J1	26476	broad.mit.edu	37	1	159410187	159410187	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr1:159410187T>G	ENST00000423932.3	+	1	676	c.639T>G	c.(637-639)agT>agG	p.S213R	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	213					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TGATTATCAGTGTGCTGGTGC	0.458																																						ENST00000423932.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25						c.(637-639)agT>agG		olfactory receptor, family 10, subfamily J, member 1							274.0	250.0	258.0					1																	159410187		2203	4300	6503	SO:0001583	missense	26476				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr1:159410187T>G	X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"""GPCR / Class A : Olfactory receptors"""	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.639T>G	1.37:g.159410187T>G	ENSP00000399078:p.Ser213Arg					RP11-550P17.5_ENST00000431862.1_RNA	p.S213R	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN			1	676	+	all_hematologic(112;0.0429)		213					Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Missense_Mutation	SNP	ENST00000423932.3	37	c.639T>G	CCDS1185.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.328331	0.41197	.	.	ENSG00000196184	ENST00000423932	T	0.39229	1.09	4.42	-4.33	0.03677	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000180	T	0.26268	0.0641	M	0.78344	2.41	0.09310	N	1	P	0.35944	0.529	B	0.44163	0.443	T	0.41893	-0.9483	10	0.72032	D	0.01	.	6.5945	0.22666	0.0:0.4104:0.2659:0.3237	.	213	P30954	O10J1_HUMAN	R	213	ENSP00000399078:S213R	ENSP00000399078:S213R	S	+	3	2	OR10J1	157676811	0.000000	0.05858	0.000000	0.03702	0.914000	0.54420	-0.449000	0.06812	-1.015000	0.03375	-0.280000	0.10049	AGT		0.458	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059020.1	NM_012351		20	106	0	0	0	1	0	20	106				
EXOC8	149371	broad.mit.edu	37	1	231471575	231471575	+	Silent	SNP	C	C	T			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr1:231471575C>T	ENST00000360394.2	-	1	2003	c.1917G>A	c.(1915-1917)ctG>ctA	p.L639L	SPRTN_ENST00000295050.7_5'Flank|SPRTN_ENST00000391858.4_5'Flank|SPRTN_ENST00000008440.9_5'Flank|EXOC8_ENST00000366645.1_Silent_p.L635L	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	639					cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				GTACCATGTGCAGCTCTGGGA	0.478																																						ENST00000366645.1																			0				cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14						c.(1903-1905)ctG>ctA		exocyst complex component 8							99.0	104.0	102.0					1																	231471575		2203	4300	6503	SO:0001819	synonymous_variant	149371				exocytosis|protein transport	growth cone|nucleus	protein binding	g.chr1:231471575C>T	AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.1917G>A	1.37:g.231471575C>T						EXOC8_ENST00000360394.2_Silent_p.L639L	p.L635L			Q8IYI6	EXOC8_HUMAN			1	2023	-	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)	639					B3KU33|Q5TE82	Silent	SNP	ENST00000360394.2	37	c.1905G>A	CCDS1593.1																																																																																				0.478	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_175876		13	77	0	0	0	1	0	13	77				
MTMR4	9110	broad.mit.edu	37	17	56585536	56585536	+	Silent	SNP	G	G	A	rs371605696		TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr17:56585536G>A	ENST00000323456.5	-	8	775	c.651C>T	c.(649-651)ccC>ccT	p.P217P	MTMR4_ENST00000579925.1_Silent_p.P217P	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	217	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACACAACCACGGGAATCCGCT	0.522																																						ENST00000323456.5																			0				breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36						c.(649-651)ccC>ccT		myotubularin related protein 4		G		0,4406		0,0,2203	64.0	60.0	61.0		651	-6.1	0.9	17		61	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	MTMR4	NM_004687.4		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		217/1196	56585536	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56585536G>A	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.651C>T	17.37:g.56585536G>A						MTMR4_ENST00000579925.1_Silent_p.P217P	p.P217P	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN			8	775	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		217			Myotubularin phosphatase.		D3DTZ6|Q8IV27|Q9Y4D5	Silent	SNP	ENST00000323456.5	37	c.651C>T	CCDS11608.1																																																																																				0.522	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		33	82	0	0	0	1	0	33	82				
MIR494	574452	broad.mit.edu	37	14	101493161	101493161	+	RNA	SNP	A	A	T			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr14:101493161A>T	ENST00000349529.2	+	0	0				MIR323A_ENST00000362199.1_RNA|MIR380_ENST00000362112.2_RNA|MIR758_ENST00000390227.1_RNA|MIR299_ENST00000385016.2_RNA|MIR329-2_ENST00000385029.1_RNA|MIR329-1_ENST00000385028.1_RNA|MIR1197_ENST00000408818.1_RNA	NR_030174.1				microRNA 494																		TGTTTCTTTAATGAGGACGAA	0.468																																						ENST00000385028.1																			0																				250.0	208.0	221.0					14																	101493161		1568	3582	5150			0							g.chr14:101493161A>T			14q32.31	2011-09-12		2008-12-18	ENSG00000194717	ENSG00000194717		"""ncRNAs / Micro RNAs"""	32084	non-coding RNA	RNA, micro				MIRN494			Standard	NR_030174		Approved	hsa-mir-494	uc010txm.2				14.37:g.101493161A>T								NR_029967.1						0	40	+									RNA	SNP	ENST00000349529.2	37																																																																																						0.468	MIR494-201	KNOWN	basic	miRNA	miRNA		NR_030174		5	128	0	0	0	1	0	5	128				
MLLT3	4300	broad.mit.edu	37	9	20414280	20414280	+	Silent	SNP	G	G	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr9:20414280G>A	ENST00000380338.4	-	5	850	c.564C>T	c.(562-564)agC>agT	p.S188S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S185S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	188	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S188S(1)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TGGTActactgctgctgctgc	0.502			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		1	Substitution - coding silent(1)	p.S188S(1)	large_intestine(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(562-564)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							77.0	84.0	82.0					9																	20414280		2203	4300	6503	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414280G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.564C>T	9.37:g.20414280G>A						MLLT3_ENST00000429426.2_Silent_p.S185S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	p.S188S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	850	-			188			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.564C>T	CCDS6494.1																																																																																				0.502	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	71	0	0	0	1	0	5	71				
NNT	23530	broad.mit.edu	37	5	43700278	43700278	+	Silent	SNP	T	T	G			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr5:43700278T>G	ENST00000264663.5	+	20	3155	c.2934T>G	c.(2932-2934)gcT>gcG	p.A978A	NNT_ENST00000512996.2_Silent_p.A847A|NNT_ENST00000344920.4_Silent_p.A978A	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	978					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					TGCTGCTGGCTGAGGCTGGTG	0.453																																						ENST00000264663.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2932-2934)gcT>gcG		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						175.0	166.0	169.0					5																	43700278		2203	4300	6503	SO:0001819	synonymous_variant	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43700278T>G	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.2934T>G	5.37:g.43700278T>G						NNT_ENST00000512996.2_Silent_p.A847A|NNT_ENST00000344920.4_Silent_p.A978A	p.A978A	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN			20	3155	+	Lung NSC(6;2.58e-06)		978					Q16796|Q2TB60|Q8N3V4	Silent	SNP	ENST00000264663.5	37	c.2934T>G	CCDS3949.1																																																																																				0.453	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		26	85	0	0	0	1	0	26	85				
PKHD1	5314	broad.mit.edu	37	6	51774158	51774158	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr6:51774158T>C	ENST00000371117.3	-	40	6880	c.6605A>G	c.(6604-6606)aAg>aGg	p.K2202R	PKHD1_ENST00000340994.4_Missense_Mutation_p.K2202R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2202					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTGCACTCCCTTCAACTGGAC	0.532																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(6604-6606)aAg>aGg		polycystic kidney and hepatic disease 1 (autosomal recessive)							197.0	186.0	190.0					6																	51774158		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51774158T>C	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.6605A>G	6.37:g.51774158T>C	ENSP00000360158:p.Lys2202Arg					PKHD1_ENST00000340994.4_Missense_Mutation_p.K2202R	p.K2202R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			40	6880	-	Lung NSC(77;0.0605)		2202					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.6605A>G	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	.	12.24	1.878662	0.33162	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.92348	-3.02;-3.02	5.8	2.17	0.27698	.	1.083200	0.06958	N	0.815890	T	0.71558	0.3354	N	0.14661	0.345	0.24444	N	0.99451	B;B;B	0.13145	0.001;0.007;0.001	B;B;B	0.13407	0.002;0.009;0.002	T	0.61013	-0.7148	10	0.33940	T	0.23	.	7.7648	0.28974	0.0:0.2321:0.0:0.7679	.	2202;2202;2202	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	R	2202	ENSP00000360158:K2202R;ENSP00000341097:K2202R	ENSP00000341097:K2202R	K	-	2	0	PKHD1	51882117	0.106000	0.21978	0.994000	0.49952	0.733000	0.41908	1.337000	0.33862	0.139000	0.18822	0.460000	0.39030	AAG		0.532	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		3	185	0	0	0	1	0	3	185				
PRG4	10216	broad.mit.edu	37	1	186276981	186276981	+	Silent	SNP	A	A	G			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr1:186276981A>G	ENST00000445192.2	+	7	2175	c.2130A>G	c.(2128-2130)aaA>aaG	p.K710K	PRG4_ENST00000367483.4_Silent_p.K669K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367485.4_Silent_p.K617K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	710	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTACCCCTAAAGGGACTGCTC	0.582																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(2128-2130)aaA>aaG		proteoglycan 4							162.0	175.0	171.0					1																	186276981		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276981A>G	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2130A>G	1.37:g.186276981A>G						PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367483.4_Silent_p.K669K	p.K710K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	2175	+			710			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.2130A>G	CCDS1369.1																																																																																				0.582	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		5	103	0	0	0	1	0	5	103				
HEATR1	55127	broad.mit.edu	37	1	236749185	236749185	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr1:236749185G>T	ENST00000366582.3	-	16	2098	c.1984C>A	c.(1984-1986)Cag>Aag	p.Q662K	HEATR1_ENST00000366581.2_Missense_Mutation_p.Q662K	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	662					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ATCATCTTCTGATTTGCTACA	0.363																																						ENST00000366582.3																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(1984-1986)Cag>Aag		HEAT repeat containing 1							106.0	98.0	101.0					1																	236749185		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236749185G>T	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.1984C>A	1.37:g.236749185G>T	ENSP00000355541:p.Gln662Lys					HEATR1_ENST00000366581.2_Missense_Mutation_p.Q662K	p.Q662K	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		16	2098	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	662					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.1984C>A	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.374420	0.24857	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.64803	-0.12;0.91	5.76	2.7	0.31948	Armadillo-type fold (1);	0.402163	0.28589	N	0.014820	T	0.48132	0.1483	L	0.39898	1.24	0.58432	D	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.31724	-0.9933	10	0.20519	T	0.43	.	9.7761	0.40621	0.0:0.277:0.3145:0.4085	.	662	Q9H583	HEAT1_HUMAN	K	662	ENSP00000355541:Q662K;ENSP00000355540:Q662K	ENSP00000355540:Q662K	Q	-	1	0	HEATR1	234815808	0.980000	0.34600	1.000000	0.80357	0.783000	0.44284	-0.015000	0.12634	0.751000	0.32900	-0.230000	0.12252	CAG		0.363	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		3	43	1	0	1	1	1	3	43				
ACTC1	70	broad.mit.edu	37	15	35085746	35085746	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr15:35085746T>G	ENST00000290378.4	-	3	809	c.154A>C	c.(154-156)Aag>Cag	p.K52Q	ACTC1_ENST00000557860.1_5'Flank|RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	52					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TAGGAGTCCTTCTGACCCATA	0.453																																						ENST00000290378.4																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31						c.(154-156)Aag>Cag		actin, alpha, cardiac muscle 1							56.0	47.0	50.0					15																	35085746		2201	4298	6499	SO:0001583	missense	70				apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding	g.chr15:35085746T>G	BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"""actin, alpha, cardiac muscle"""	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.154A>C	15.37:g.35085746T>G	ENSP00000290378:p.Lys52Gln					RP11-814P5.1_ENST00000503496.1_RNA	p.K52Q	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	3	809	-		all_lung(180;2.3e-08)	52					P04270	Missense_Mutation	SNP	ENST00000290378.4	37	c.154A>C	CCDS10041.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.046696	0.75846	.	.	ENSG00000159251	ENST00000290378;ENST00000544062	D	0.92299	-3.01	5.49	5.49	0.81192	.	0.000000	0.56097	U	0.000039	D	0.96744	0.8937	M	0.89968	3.075	0.58432	D	0.999998	B	0.29552	0.248	P	0.53313	0.723	D	0.96772	0.9569	10	0.87932	D	0	.	15.888	0.79269	0.0:0.0:0.0:1.0	.	52	P68032	ACTC_HUMAN	Q	52	ENSP00000290378:K52Q	ENSP00000290378:K52Q	K	-	1	0	ACTC1	32873038	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.040000	0.89188	2.216000	0.71823	0.459000	0.35465	AAG		0.453	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251876.3	NM_005159		5	27	0	0	0	1	0	5	27				
DOPEY2	9980	broad.mit.edu	37	21	37617884	37617884	+	Silent	SNP	C	C	T	rs112487012		TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr21:37617884C>T	ENST00000399151.3	+	19	3691	c.3606C>T	c.(3604-3606)ctC>ctT	p.L1202L		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1202					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ACTTGGAGCTCCAGGCCCTCA	0.622																																						ENST00000399151.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(3604-3606)ctC>ctT		dopey family member 2							45.0	41.0	42.0					21																	37617884		2203	4300	6503	SO:0001819	synonymous_variant	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37617884C>T	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.3606C>T	21.37:g.37617884C>T							p.L1202L	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN			19	3691	+			1202					D3DSG5|Q6PJQ7|Q9UEZ3	Silent	SNP	ENST00000399151.3	37	c.3606C>T	CCDS13643.1																																																																																				0.622	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		4	35	0	0	0	1	0	4	35				
DENND5B	160518	broad.mit.edu	37	12	31586051	31586051	+	Intron	SNP	G	G	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr12:31586051G>A	ENST00000389082.5	-	8	2371				DENND5B_ENST00000536562.1_Intron|DENND5B_ENST00000306833.6_Intron|DENND5B_ENST00000354285.4_Missense_Mutation_p.A737V	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B						positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AGTTCATGGCGCTTGCTGTGA	0.433																																						ENST00000354285.4																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(2209-2211)gCg>gTg		DENN/MADD domain containing 5B							107.0	110.0	109.0					12																	31586051		2080	4220	6300	SO:0001627	intron_variant	160518					integral to membrane		g.chr12:31586051G>A	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.2106+37C>T	12.37:g.31586051G>A						DENND5B_ENST00000306833.6_Intron|DENND5B_ENST00000389082.5_Intron|DENND5B_ENST00000536562.1_Intron	p.A737V			Q6ZUT9	DEN5B_HUMAN			9	2389	-			0					B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	c.2210C>T	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	G	0.036	-1.307502	0.01342	.	.	ENSG00000170456	ENST00000354285	T	0.06687	3.27	4.26	-1.75	0.08031	.	.	.	.	.	T	0.05364	0.0142	.	.	.	0.09310	N	1	B	0.20052	0.041	B	0.12156	0.007	T	0.39800	-0.9596	8	0.87932	D	0	.	2.5295	0.04699	0.2282:0.0724:0.3526:0.3468	.	737	Q6ZUT9-4	.	V	737	ENSP00000346238:A737V	ENSP00000346238:A737V	A	-	2	0	DENND5B	31477318	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.957000	0.03861	-0.426000	0.07360	-2.269000	0.00276	GCG		0.433	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		3	77	0	0	0	1	0	3	77				
ZNF780A	284323	broad.mit.edu	37	19	40580582	40580582	+	Silent	SNP	C	C	T			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr19:40580582C>T	ENST00000595687.2	-	6	1976	c.1767G>A	c.(1765-1767)gaG>gaA	p.E589E	AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000450241.2_Silent_p.E555E|ZNF780A_ENST00000594395.1_Silent_p.E590E|ZNF780A_ENST00000455521.1_Silent_p.E590E|ZNF780A_ENST00000340963.5_Silent_p.E589E|ZNF780A_ENST00000414720.2_Intron	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	589					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTTTCCCACACTCCTTACATT	0.393																																						ENST00000450241.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(1663-1665)gaG>gaA		zinc finger protein 780A							144.0	143.0	143.0					19																	40580582		2203	4300	6503	SO:0001819	synonymous_variant	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40580582C>T	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1767G>A	19.37:g.40580582C>T						ZNF780A_ENST00000594395.1_Silent_p.E590E|ZNF780A_ENST00000455521.1_Silent_p.E590E|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Silent_p.E589E|ZNF780A_ENST00000595687.2_Silent_p.E589E|AC005614.5_ENST00000595508.1_RNA	p.E555E			O75290	Z780A_HUMAN			6	1976	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		589					E9PB48|Q6ZN87	Silent	SNP	ENST00000595687.2	37	c.1665G>A	CCDS33026.2																																																																																				0.393	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		5	174	0	0	0	1	0	5	174				
CPN1	1369	broad.mit.edu	37	10	101835675	101835675	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr10:101835675G>A	ENST00000370418.3	-	2	664	c.413C>T	c.(412-414)gCt>gTt	p.A138V		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	138	Catalytic.				response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		TACCTGGGCAGCAGCCACCTC	0.567																																						ENST00000370418.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33						c.(412-414)gCt>gTt		carboxypeptidase N, polypeptide 1							79.0	71.0	74.0					10																	101835675		2203	4300	6503	SO:0001583	missense	1369				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:101835675G>A	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"""anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""kininase I"", ""lysine carboxypeptidase"""	603103	"""carboxypeptidase N, polypeptide 1, 50kD"""			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.413C>T	10.37:g.101835675G>A	ENSP00000359446:p.Ala138Val						p.A138V	NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)	2	664	-		Colorectal(252;0.234)	138			Catalytic.		B1AP59	Missense_Mutation	SNP	ENST00000370418.3	37	c.413C>T	CCDS7486.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090539	0.36855	.	.	ENSG00000120054	ENST00000370418	T	0.03212	4.01	5.74	4.84	0.62591	Peptidase M14, carboxypeptidase A (2);	0.045796	0.85682	N	0.000000	T	0.05960	0.0155	L	0.55103	1.725	0.80722	D	1	B	0.20459	0.045	B	0.27076	0.076	T	0.30001	-0.9993	10	0.16896	T	0.51	-42.0918	14.9114	0.70761	0.0689:0.0:0.9311:0.0	.	138	P15169	CBPN_HUMAN	V	138	ENSP00000359446:A138V	ENSP00000359446:A138V	A	-	2	0	CPN1	101825665	1.000000	0.71417	0.048000	0.18961	0.022000	0.10575	7.656000	0.83736	1.440000	0.47531	0.655000	0.94253	GCT		0.567	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308		3	48	0	0	0	1	0	3	48				
DPY19L2	283417	broad.mit.edu	37	12	64041106	64041106	+	Missense_Mutation	SNP	T	T	C	rs200602630		TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr12:64041106T>C	ENST00000324472.4	-	5	811	c.628A>G	c.(628-630)Atg>Gtg	p.M210V	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	210					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AATAAATTCATTATTCCCATG	0.318																																						ENST00000324472.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(628-630)Atg>Gtg		dpy-19-like 2 (C. elegans)							64.0	68.0	67.0					12																	64041106		2203	4298	6501	SO:0001583	missense	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:64041106T>C		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.628A>G	12.37:g.64041106T>C	ENSP00000315988:p.Met210Val					RP11-415I12.3_ENST00000509615.2_RNA	p.M210V	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	5	811	-			210					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	c.628A>G	CCDS31851.1	137	0.06272893772893773	57	0.11585365853658537	8	0.022099447513812154	55	0.09615384615384616	17	0.022427440633245383	T	2.494	-0.316745	0.05386	.	.	ENSG00000177990	ENST00000324472	T	0.54479	0.57	2.35	1.07	0.20283	.	0.097071	0.64402	U	0.000002	T	0.00440	0.0014	.	.	.	0.80722	D	1	B	0.24258	0.1	B	0.22152	0.038	T	0.04373	-1.0956	8	.	.	.	.	4.6287	0.12491	0.2818:0.0:0.0:0.7182	.	210	Q6NUT2	D19L2_HUMAN	V	210	ENSP00000315988:M210V	.	M	-	1	0	DPY19L2	62327373	1.000000	0.71417	0.995000	0.50966	0.654000	0.38779	3.307000	0.51888	0.118000	0.18165	0.155000	0.16302	ATG		0.318	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		4	110	0	0	0	1	0	4	110				
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	755						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E3455K(5)		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)		atcaaagaaggaaagaagaag	0.423																																						ENST00000342960.5																			5	Substitution - Missense(5)	p.E3455K(5)	skin(2)|urinary_tract(1)|kidney(1)|central_nervous_system(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.(10363-10365)Gaa>Aaa		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145367767G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10363G>A	1.37:g.145367767G>A	ENSP00000345684:p.Glu3455Lys					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.E3455K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10398	+	all_hematologic(923;0.032)		3455					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.10363G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.929795	0.00488	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00784	0.0026	L	0.51422	1.61	0.09310	N	1	.	.	.	.	.	.	T	0.46162	-0.9211	4	0.02654	T	1	.	.	.	.	.	.	.	.	K	575;3455	ENSP00000345684:E3455K	ENSP00000345684:E3455K	E	+	1	0	NBPF10	144079124	0.039000	0.19947	.	.	.	.	0.000000	0.12993	.	.	.	.	GAA		0.423	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		3	43	0	0	0	1	0	3	43				
TUBB8P7	197331	broad.mit.edu	37	16	90162555	90162555	+	RNA	SNP	C	C	T	rs532637415	byFrequency	TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr16:90162555C>T	ENST00000564451.1	+	0	1908				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		ATGCCACGGCCGAGGAGGAGG	0.522																																						ENST00000564451.1																			0																																																			0							g.chr16:90162555C>T			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162555C>T						TUBB8P7_ENST00000567960.1_RNA								0	1908	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.522	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		3	122	0	0	0	1	0	3	122				
FSCN3	29999	broad.mit.edu	37	7	127235557	127235557	+	Missense_Mutation	SNP	G	G	A	rs199821862	byFrequency	TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr7:127235557G>A	ENST00000265825.5	+	2	560	c.341G>A	c.(340-342)cGt>cAt	p.R114H	GCC1_ENST00000497650.1_5'Flank|FSCN3_ENST00000420086.2_5'UTR	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	114						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R114H(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						ATCTCTGGTCGTTATTTGGAG	0.567													G|||	7	0.00139776	0.0	0.0014	5008	,	,		19077	0.0		0.0	False		,,,				2504	0.0061					ENST00000265825.5																			1	Substitution - Missense(1)	p.R114H(1)	ovary(1)	endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(340-342)cGt>cAt		fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)		G	HIS/ARG	0,4406		0,0,2203	153.0	114.0	127.0		341	3.8	0.8	7		127	1,8599	1.2+/-3.3	0,1,4299	no	missense	FSCN3	NM_020369.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	114/499	127235557	1,13005	2203	4300	6503	SO:0001583	missense	29999					actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	g.chr7:127235557G>A		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"""Fascins"""	3961	protein-coding gene	gene with protein product		615800	"""fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)"", ""fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"""			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.341G>A	7.37:g.127235557G>A	ENSP00000265825:p.Arg114His					FSCN3_ENST00000420086.2_5'UTR	p.R114H	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN			2	560	+			114					A4D0Z2|A6NLL7|B2RA62|B4DU68	Missense_Mutation	SNP	ENST00000265825.5	37	c.341G>A	CCDS34746.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402665	0.42613	0.0	1.16E-4	ENSG00000106328	ENST00000265825	T	0.25250	1.81	5.58	3.76	0.43208	Fascin domain (1);Actin cross-linking (1);	0.293319	0.30302	N	0.009931	T	0.14570	0.0352	N	0.17474	0.49	0.80722	D	1	B	0.19583	0.037	B	0.12837	0.008	T	0.06570	-1.0819	10	0.35671	T	0.21	-35.605	9.0638	0.36451	0.1759:0.0:0.8241:0.0	.	114	Q9NQT6	FSCN3_HUMAN	H	114	ENSP00000265825:R114H	ENSP00000265825:R114H	R	+	2	0	FSCN3	127022793	0.053000	0.20554	0.833000	0.33012	0.739000	0.42172	1.132000	0.31418	1.502000	0.48669	0.650000	0.86243	CGT		0.567	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		3	57	0	0	0	1	0	3	57				
CLEC1B	51266	broad.mit.edu	37	12	10147815	10147815	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr12:10147815G>A	ENST00000298527.6	-	5	648	c.469C>T	c.(469-471)Cgt>Tgt	p.R157C	CLEC1B_ENST00000428126.2_Missense_Mutation_p.R124C|CLEC1B_ENST00000348658.4_Missense_Mutation_p.R124C	NM_016509.3	NP_057593.3	Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	157	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|platelet formation (GO:0030220)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.R157C(1)|p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						CCGACCCAACGAATTAAATGA	0.418																																						ENST00000428126.2																			2	Substitution - Missense(1)|Unknown(1)	p.R157C(1)|p.?(1)	large_intestine(2)	NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						c.(370-372)Cgt>Tgt		C-type lectin domain family 1, member B							258.0	248.0	251.0					12																	10147815		1853	4089	5942	SO:0001583	missense	51266				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity	g.chr12:10147815G>A	AF124841	CCDS41751.1, CCDS41752.1	12p13.31	2006-04-12				ENSG00000165682		"""C-type lectin domain containing"""	24356	protein-coding gene	gene with protein product		606783				10671229, 11745369	Standard	NM_016509		Approved	CLEC2	uc001qwu.3	Q9P126		ENST00000298527.6:c.469C>T	12.37:g.10147815G>A	ENSP00000298527:p.Arg157Cys					CLEC1B_ENST00000348658.4_Missense_Mutation_p.R124C|CLEC1B_ENST00000298527.6_Missense_Mutation_p.R157C	p.R124C			Q9P126	CLC1B_HUMAN			6	639	-			157			C-type lectin.		Q6UWX7|Q8NHR6	Missense_Mutation	SNP	ENST00000298527.6	37	c.370C>T	CCDS41752.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.26|16.26	3.072111|3.072111	0.55646|0.55646	.|.	.|.	ENSG00000165682|ENSG00000165682	ENST00000398939|ENST00000398937;ENST00000428126;ENST00000298527;ENST00000348658	.|T;T;T;T	.|0.18338	.|2.22;2.22;2.22;2.22	3.83|3.83	3.83|3.83	0.44106|0.44106	.|C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.|0.000000	.|0.48767	.|D	.|0.000165	.|T	.|0.37433	.|0.1003	M|M	0.69823|0.69823	2.125|2.125	0.50632|0.50632	D|D	0.999883|0.999883	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	.|T	.|0.08953	.|-1.0697	.|10	.|0.40728	.|T	.|0.16	.|.	11.1397|11.1397	0.48396|0.48396	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|124;157	.|Q9P126-2;Q9P126	.|.;CLC1B_HUMAN	.|C	-1|64;124;157;124	.|ENSP00000381910:R64C;ENSP00000406338:R124C;ENSP00000298527:R157C;ENSP00000327169:R124C	.|ENSP00000298527:R157C	.|R	-|-	.|1	.|0	CLEC1B|CLEC1B	10039082|10039082	0.999000|0.999000	0.42202|0.42202	0.960000|0.960000	0.40013|0.40013	0.644000|0.644000	0.38419|0.38419	4.365000|4.365000	0.59486|0.59486	1.954000|1.954000	0.56735|0.56735	0.298000|0.298000	0.19748|0.19748	.|CGT		0.418	CLEC1B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399922.1	NM_016509		51	267	0	0	0	1	0	51	267				
C11orf63	79864	broad.mit.edu	37	11	122774732	122774732	+	Silent	SNP	G	G	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr11:122774732G>A	ENST00000531316.1	+	2	536	c.444G>A	c.(442-444)ccG>ccA	p.P148P	C11orf63_ENST00000307257.6_Silent_p.P148P|C11orf63_ENST00000227349.2_Silent_p.P148P			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	148					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)		AAGCGTTGCCGGAGTCCACGG	0.532																																						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.(442-444)ccG>ccA		chromosome 11 open reading frame 63							93.0	104.0	100.0					11																	122774732		2202	4299	6501	SO:0001819	synonymous_variant	79864							g.chr11:122774732G>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.444G>A	11.37:g.122774732G>A						C11orf63_ENST00000307257.6_Silent_p.P148P|C11orf63_ENST00000531316.1_Silent_p.P148P	p.P148P	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	3	741	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	148					A8K6G0|Q96GB5|Q9H5D6	Silent	SNP	ENST00000531316.1	37	c.444G>A	CCDS8438.1																																																																																				0.532	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		3	118	0	0	0	1	0	3	118				
ANKRD32	84250	broad.mit.edu	37	5	94022425	94022425	+	Splice_Site	SNP	T	T	G			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr5:94022425T>G	ENST00000265140.5	+	16	2540		c.e16+2			NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32							centrosome (GO:0005813)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		CAGAAAATGGTAAGTACCTCT	0.363																																						ENST00000265140.5																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13						c.e16+2		ankyrin repeat domain 32							88.0	88.0	88.0					5																	94022425		2203	4300	6503	SO:0001630	splice_region_variant	84250							g.chr5:94022425T>G	AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"""Ankyrin repeat domain containing"""	25408	protein-coding gene	gene with protein product			"""BRCT domain containing 1"""	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.2121+2T>G	5.37:g.94022425T>G								NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN		all cancers(79;3.88e-18)	16	2540	+		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)						B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Splice_Site	SNP	ENST00000265140.5	37		CCDS4071.2	.	.	.	.	.	.	.	.	.	.	T	20.9	4.066426	0.76187	.	.	ENSG00000133302	ENST00000265140	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7994	0.78439	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANKRD32	94048181	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	6.338000	0.72963	2.258000	0.74832	0.533000	0.62120	.		0.363	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241610.1	NM_032290	Intron	14	67	0	0	0	1	0	14	67				
WDR49	151790	broad.mit.edu	37	3	167277926	167277926	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr3:167277926C>T	ENST00000308378.3	-	5	882	c.577G>A	c.(577-579)Gca>Aca	p.A193T	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.A18T|WDR49_ENST00000453925.2_Missense_Mutation_p.A246T	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	193										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CTGATTTCTGCGTTGCCGTGG	0.453																																						ENST00000308378.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(577-579)Gca>Aca		WD repeat domain 49							166.0	150.0	156.0					3																	167277926		2203	4300	6503	SO:0001583	missense	151790							g.chr3:167277926C>T	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.577G>A	3.37:g.167277926C>T	ENSP00000311343:p.Ala193Thr					WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.A246T|WDR49_ENST00000476376.1_Missense_Mutation_p.A18T	p.A193T	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN			5	882	-			193					Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	c.577G>A	CCDS3201.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.777350	0.31411	.	.	ENSG00000174776	ENST00000308378;ENST00000476376;ENST00000453925;ENST00000466760	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	4.94	4.07	0.47477	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.327549	0.32314	N	0.006267	T	0.60157	0.2247	L	0.38953	1.18	0.25142	N	0.990495	D;D	0.89917	1.0;0.994	D;P	0.67103	0.949;0.797	T	0.49234	-0.8961	10	0.29301	T	0.29	.	7.6979	0.28606	0.1617:0.7533:0.0:0.085	.	246;193	E7EQK3;Q8IV35	.;WDR49_HUMAN	T	193;18;246;86	ENSP00000311343:A193T;ENSP00000420508:A18T;ENSP00000410863:A246T;ENSP00000418718:A86T	ENSP00000311343:A193T	A	-	1	0	WDR49	168760620	0.984000	0.35163	0.997000	0.53966	0.447000	0.32167	2.497000	0.45354	1.218000	0.43458	-0.229000	0.12294	GCA		0.453	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		18	96	0	0	0	1	0	18	96				
CSRNP3	80034	broad.mit.edu	37	2	166514412	166514412	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr2:166514412G>A	ENST00000342316.4	+	3	562	c.290G>A	c.(289-291)cGc>cAc	p.R97H	CSRNP3_ENST00000314499.7_Missense_Mutation_p.R97H|CSRNP3_ENST00000409420.1_Missense_Mutation_p.R129H	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	97					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R97H(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						ATGTCCAGCCGCCATAACAGC	0.547																																						ENST00000314499.7																			1	Substitution - Missense(1)	p.R97H(1)	ovary(1)	breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						c.(289-291)cGc>cAc		cysteine-serine-rich nuclear protein 3							55.0	48.0	50.0					2																	166514412		2203	4300	6503	SO:0001583	missense	80034				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:166514412G>A	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.290G>A	2.37:g.166514412G>A	ENSP00000344042:p.Arg97His					CSRNP3_ENST00000342316.4_Missense_Mutation_p.R97H|CSRNP3_ENST00000409420.1_Missense_Mutation_p.R129H	p.R97H	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN			5	666	+			97					B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP	ENST00000342316.4	37	c.290G>A	CCDS2225.1	.	.	.	.	.	.	.	.	.	.	G	33	5.276723	0.95459	.	.	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000409664;ENST00000342316;ENST00000409420	T;T;T;T;T	0.15256	2.44;2.44;2.44;2.44;2.44	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.28499	0.0705	N	0.16790	0.44	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.08785	-1.0705	10	0.40728	T	0.16	-18.4594	19.2061	0.93730	0.0:0.0:1.0:0.0	.	97	Q8WYN3	CSRN3_HUMAN	H	97;104;97;97;97;129	ENSP00000412081:R97H;ENSP00000318258:R97H;ENSP00000386278:R97H;ENSP00000344042:R97H;ENSP00000387195:R129H	ENSP00000318258:R97H	R	+	2	0	CSRNP3	166222658	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.620000	0.74224	2.604000	0.88044	0.563000	0.77884	CGC		0.547	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969		3	46	0	0	0	1	0	3	46				
HIST1H4B	8366	broad.mit.edu	37	6	26027359	26027359	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr6:26027359C>T	ENST00000377364.3	-	1	121	c.122G>A	c.(121-123)cGt>cAt	p.R41H		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	41					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						AACCCCACCACGCCTAGCAAG	0.552																																						ENST00000377364.3																			0				large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						c.(121-123)cGt>cAt		histone cluster 1, H4b							70.0	63.0	65.0					6																	26027359		2203	4300	6503	SO:0001583	missense	8366				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26027359C>T	X67081	CCDS4572.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124529	ENSG00000278705		"""Histones / Replication-dependent"""	4789	protein-coding gene	gene with protein product		602829	"""H4 histone family, member I"", ""histone 1, H4b"""	H4FI		9119399, 12408966	Standard	NM_003544		Approved	H4/I	uc003nfr.3	P62805	OTTHUMG00000014417	ENST00000377364.3:c.122G>A	6.37:g.26027359C>T	ENSP00000366581:p.Arg41His						p.R41H	NM_003544.2	NP_003535.1	P62805	H4_HUMAN			1	121	-			41					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000377364.3	37	c.122G>A	CCDS4572.1	.	.	.	.	.	.	.	.	.	.	c	19.82	3.898576	0.72639	.	.	ENSG00000124529	ENST00000377364	T	0.68903	-0.36	4.65	4.65	0.58169	.	0.000000	0.50627	U	0.000107	T	0.74869	0.3773	.	.	.	0.42809	D	0.993954	.	.	.	.	.	.	T	0.77648	-0.2509	7	0.59425	D	0.04	.	17.4106	0.87484	0.0:1.0:0.0:0.0	.	.	.	.	H	41	ENSP00000366581:R41H	ENSP00000366581:R41H	R	-	2	0	HIST1H4B	26135338	1.000000	0.71417	0.017000	0.16124	0.002000	0.02628	7.416000	0.80143	2.506000	0.84524	0.563000	0.77884	CGT		0.552	HIST1H4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040079.2	NM_003544		4	62	0	0	0	1	0	4	62				
FLG	2312	broad.mit.edu	37	1	152282808	152282808	+	Silent	SNP	A	A	G			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr1:152282808A>G	ENST00000368799.1	-	3	4589	c.4554T>C	c.(4552-4554)caT>caC	p.H1518H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1518	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGGCTGTGATGGTACCCTG	0.562									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(4552-4554)caT>caC		filaggrin							320.0	306.0	311.0					1																	152282808		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282808A>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4554T>C	1.37:g.152282808A>G						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.H1518H	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4589	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1518			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.4554T>C	CCDS30860.1																																																																																				0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		62	383	0	0	0	1	0	62	383				
MESP1	55897	broad.mit.edu	37	15	90293435	90293435	+	Silent	SNP	A	A	C			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr15:90293435A>C	ENST00000300057.4	-	2	825	c.747T>G	c.(745-747)gcT>gcG	p.A249A	MESP1_ENST00000559894.1_5'UTR	NM_018670.3	NP_061140.1	Q9BRJ9	MESP1_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 1	249					cardiac atrium formation (GO:0003210)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell differentiation (GO:0055007)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cardiac ventricle formation (GO:0003211)|cardioblast anterior-lateral migration (GO:0003259)|cardioblast migration to the midline involved in heart field formation (GO:0060975)|embryonic heart tube morphogenesis (GO:0003143)|endothelial cell differentiation (GO:0045446)|gastrulation (GO:0007369)|growth involved in heart morphogenesis (GO:0003241)|heart looping (GO:0001947)|lateral mesoderm development (GO:0048368)|mesodermal cell migration (GO:0008078)|negative regulation of endodermal cell fate specification (GO:0042664)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of transcription, DNA-templated (GO:0045892)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway (GO:0090082)|positive regulation of hepatocyte differentiation (GO:0070368)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of Notch signaling pathway involved in heart induction (GO:0035481)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|secondary heart field specification (GO:0003139)|signal transduction involved in regulation of gene expression (GO:0023019)|sinoatrial node cell differentiation (GO:0060921)|sinus venosus morphogenesis (GO:0003236)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|kidney(1)	2	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			TCTCCAACAGAGCCAGCACGT	0.647																																						ENST00000300057.4																			0				NS(1)|kidney(1)	2						c.(745-747)gcT>gcG		mesoderm posterior 1 homolog (mouse)							75.0	75.0	75.0					15																	90293435		2200	4299	6499	SO:0001819	synonymous_variant	55897				cardiac atrium formation|cardiac cell fate determination|cardiac vascular smooth muscle cell differentiation|cardiac ventricle formation|cardioblast anterior-lateral migration|cardioblast migration to the midline involved in heart field formation|endothelial cell differentiation|gastrulation|growth involved in heart morphogenesis|heart looping|lateral mesoderm development|negative regulation of endodermal cell fate specification|negative regulation of mesodermal cell fate specification|negative regulation of transcription, DNA-dependent|neurogenesis|Notch signaling pathway|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|positive regulation of hepatocyte differentiation|positive regulation of Notch signaling pathway|positive regulation of striated muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|secondary heart field specification|sinoatrial node cell differentiation|sinus venosus morphogenesis		sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr15:90293435A>C		CCDS10355.1	15q26.1	2014-06-30	2014-06-30		ENSG00000166823	ENSG00000166823		"""Basic helix-loop-helix proteins"""	29658	protein-coding gene	gene with protein product		608689	"""mesoderm posterior 1 homolog (mouse)"""			8787751, 11578861	Standard	NM_018670		Approved	MGC10676, bHLHc5	uc002bol.3	Q9BRJ9	OTTHUMG00000149810	ENST00000300057.4:c.747T>G	15.37:g.90293435A>C						MESP1_ENST00000559894.1_5'UTR	p.A249A	NM_018670.3	NP_061140.1	Q9BRJ9	MESP1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)		2	825	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		249					Q9NSF1|Q9NSF2	Silent	SNP	ENST00000300057.4	37	c.747T>G	CCDS10355.1																																																																																				0.647	MESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313421.1	NM_018670		11	73	0	0	0	1	0	11	73				
DNAH8	1769	broad.mit.edu	37	6	38810577	38810577	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr6:38810577A>T	ENST00000359357.3	+	33	4346	c.4092A>T	c.(4090-4092)agA>agT	p.R1364S	DNAH8_ENST00000441566.1_Missense_Mutation_p.R1364S|DNAH8_ENST00000449981.2_Missense_Mutation_p.R1581S			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1364					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACTGGGATAGAATCTCCGAGT	0.383																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(4090-4092)agA>agT		dynein, axonemal, heavy chain 8							131.0	121.0	124.0					6																	38810577		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38810577A>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.4092A>T	6.37:g.38810577A>T	ENSP00000352312:p.Arg1364Ser					DNAH8_ENST00000449981.2_Missense_Mutation_p.R1581S|DNAH8_ENST00000441566.1_Missense_Mutation_p.R1364S	p.R1364S							33	4346	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.4092A>T		.	.	.	.	.	.	.	.	.	.	A	19.27	3.796066	0.70567	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.60424	0.19;0.19;0.19	5.12	-4.71	0.03279	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	T	0.56247	0.1972	M	0.86573	2.825	0.53688	D	0.999972	D	0.63046	0.992	D	0.66351	0.943	T	0.60161	-0.7317	10	0.54805	T	0.06	.	1.8564	0.03180	0.2135:0.4002:0.1576:0.2286	.	1364	Q96JB1	DYH8_HUMAN	S	1569;1569;1364;1364	ENSP00000333363:R1569S;ENSP00000352312:R1364S;ENSP00000402294:R1364S	ENSP00000333363:R1569S	R	+	3	2	DNAH8	38918555	0.020000	0.18652	0.987000	0.45799	0.912000	0.54170	-1.054000	0.03496	-0.555000	0.06142	0.455000	0.32223	AGA		0.383	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		24	99	0	0	0	1	0	24	99				
ABCE1	6059	broad.mit.edu	37	4	146032204	146032204	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr4:146032204A>C	ENST00000296577.4	+	8	1213	c.698A>C	c.(697-699)cAg>cCg	p.Q233P	ABCE1_ENST00000502803.1_Intron|OTUD4_ENST00000455611.2_5'UTR	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	233	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				negative regulation of catalytic activity (GO:0043086)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|iron-sulfur cluster binding (GO:0051536)|ribonuclease inhibitor activity (GO:0008428)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					GTTTGCATACAGAAAGCTGAT	0.363																																						ENST00000296577.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18						c.(697-699)cAg>cCg		ATP-binding cassette, sub-family E (OABP), member 1							137.0	122.0	127.0					4																	146032204		2203	4300	6503	SO:0001583	missense	6059				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity	g.chr4:146032204A>C	X74987	CCDS34071.1	4q31	2012-03-14			ENSG00000164163	ENSG00000164163		"""ATP binding cassette transporters / subfamily E"""	69	protein-coding gene	gene with protein product		601213		RNASEL1, RNASELI, RNS4I		7539425	Standard	NM_002940		Approved	RLI, OABP	uc003ijy.3	P61221	OTTHUMG00000161478	ENST00000296577.4:c.698A>C	4.37:g.146032204A>C	ENSP00000296577:p.Gln233Pro					OTUD4_ENST00000455611.2_5'UTR|ABCE1_ENST00000502803.1_Intron	p.Q233P	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN			8	1213	+	all_hematologic(180;0.151)		233			ABC transporter 1.		O88793|Q13181|Q13864|Q6NR76|Q96AL0|Q96B10|Q99K66	Missense_Mutation	SNP	ENST00000296577.4	37	c.698A>C	CCDS34071.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.668761	0.88348	.	.	ENSG00000164163	ENST00000296577	D	0.85171	-1.95	5.45	5.45	0.79879	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.91771	0.7397	M	0.79614	2.46	0.80722	D	1	D	0.56968	0.978	D	0.65573	0.936	D	0.92738	0.6205	10	0.72032	D	0.01	-16.2547	15.8133	0.78581	1.0:0.0:0.0:0.0	.	233	P61221	ABCE1_HUMAN	P	233	ENSP00000296577:Q233P	ENSP00000296577:Q233P	Q	+	2	0	ABCE1	146251654	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.330000	0.96422	2.190000	0.69967	0.482000	0.46254	CAG		0.363	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365104.1	NM_002940		6	69	0	0	0	1	0	6	69				
HTR2C	3358	broad.mit.edu	37	X	113965800	113965800	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chrX:113965800C>T	ENST00000276198.1	+	4	861	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C	HTR2C_ENST00000371950.3_Missense_Mutation_p.R45C|HTR2C_ENST00000371951.1_Missense_Mutation_p.R45C	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	45					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CGATGGTGGACGCTTCAAATT	0.443																																						ENST00000276198.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(133-135)Cgc>Tgc		5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)						139.0	125.0	130.0					X																	113965800		2203	4300	6503	SO:0001583	missense	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:113965800C>T		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.133C>T	X.37:g.113965800C>T	ENSP00000276198:p.Arg45Cys					HTR2C_ENST00000371951.1_Missense_Mutation_p.R45C|HTR2C_ENST00000371950.3_Missense_Mutation_p.R45C	p.R45C	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN			4	861	+			45					B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	c.133C>T	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.614811	0.66672	.	.	ENSG00000147246	ENST00000276198;ENST00000371951;ENST00000371950	T;T;T	0.58652	0.32;0.32;0.61	5.03	5.03	0.67393	.	0.412917	0.23826	N	0.044184	T	0.56411	0.1983	N	0.14661	0.345	0.34802	D	0.7368	D;D	0.89917	1.0;0.985	D;B	0.66979	0.948;0.301	T	0.66806	-0.5830	10	0.54805	T	0.06	.	9.9207	0.41462	0.2026:0.7974:0.0:0.0	.	45;45	B1AMW4;P28335	.;5HT2C_HUMAN	C	45	ENSP00000276198:R45C;ENSP00000361019:R45C;ENSP00000361018:R45C	ENSP00000276198:R45C	R	+	1	0	HTR2C	113872056	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.296000	0.33389	2.466000	0.83321	0.594000	0.82650	CGC		0.443	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		25	75	0	0	0	1	0	25	75				
ELAVL2	1993	broad.mit.edu	37	9	23701423	23701423	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr9:23701423T>C	ENST00000397312.2	-	5	941	c.667A>G	c.(667-669)Aac>Gac	p.N223D	ELAVL2_ENST00000544538.1_Missense_Mutation_p.N223D|ELAVL2_ENST00000380110.4_Missense_Mutation_p.N252D|ELAVL2_ENST00000223951.6_Missense_Mutation_p.N223D|ELAVL2_ENST00000380117.1_Missense_Mutation_p.N223D	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	223					regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TACCTTCTGTTTGGAGACTGG	0.488																																						ENST00000397312.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(667-669)Aac>Gac		ELAV like neuron-specific RNA binding protein 2							296.0	290.0	292.0					9																	23701423		2203	4300	6503	SO:0001583	missense	1993				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr9:23701423T>C	BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"""RNA binding motif (RRM) containing"""	3313	protein-coding gene	gene with protein product	"""Hu antigen B"""	601673	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"""			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.667A>G	9.37:g.23701423T>C	ENSP00000380479:p.Asn223Asp					ELAVL2_ENST00000544538.1_Missense_Mutation_p.N223D|ELAVL2_ENST00000380110.4_Missense_Mutation_p.N252D|ELAVL2_ENST00000380117.1_Missense_Mutation_p.N223D|ELAVL2_ENST00000223951.6_Missense_Mutation_p.N223D	p.N223D	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN		GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)	5	941	-			223					D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Missense_Mutation	SNP	ENST00000397312.2	37	c.667A>G	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	T	16.76	3.212750	0.58452	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598;ENST00000423281	T;T;T;T;T	0.15017	2.46;2.87;2.87;2.87;3.16	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.16041	0.0386	L	0.36672	1.1	0.80722	D	1	B;B	0.19445	0.036;0.03	B;B	0.25614	0.028;0.062	T	0.08659	-1.0711	10	0.13853	T	0.58	.	16.3663	0.83325	0.0:0.0:0.0:1.0	.	223;223	Q12926;Q12926-2	ELAV2_HUMAN;.	D	223;223;223;223;223;251;88	ENSP00000223951:N223D;ENSP00000380479:N223D;ENSP00000440998:N223D;ENSP00000369460:N223D;ENSP00000391757:N88D	ENSP00000223951:N223D	N	-	1	0	ELAVL2	23691423	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.678000	0.84035	2.269000	0.75478	0.460000	0.39030	AAC		0.488	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432		32	224	0	0	0	1	0	32	224				
GPR4	2828	broad.mit.edu	37	19	46095073	46095073	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr19:46095073G>A	ENST00000323040.4	-	2	996	c.52C>T	c.(52-54)Ctc>Ttc	p.L18F	OPA3_ENST00000544371.1_Intron|GPR4_ENST00000591614.1_5'Flank	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	18					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		GGCGGAAAGAGGTGGTCCACG	0.672																																					Esophageal Squamous(117;181 1612 1673 14956 42937)	ENST00000323040.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(52-54)Ctc>Ttc		G protein-coupled receptor 4							53.0	42.0	46.0					19																	46095073		2203	4300	6503	SO:0001583	missense	2828					integral to plasma membrane	G-protein coupled receptor activity	g.chr19:46095073G>A	BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"""GPCR / Class A : Orphans"""	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.52C>T	19.37:g.46095073G>A	ENSP00000319744:p.Leu18Phe					OPA3_ENST00000544371.1_Intron	p.L18F	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)	2	996	-			18					A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	ENST00000323040.4	37	c.52C>T	CCDS12669.1	.	.	.	.	.	.	.	.	.	.	G	3.403	-0.121814	0.06838	.	.	ENSG00000177464	ENST00000323040	T	0.39056	1.1	5.11	5.11	0.69529	.	0.090651	0.44688	D	0.000427	T	0.22820	0.0551	N	0.08118	0	0.33709	D	0.615539	B	0.14012	0.009	B	0.09377	0.004	T	0.24083	-1.0170	10	0.26408	T	0.33	.	11.8559	0.52437	0.0:0.1768:0.8232:0.0	.	18	P46093	GPR4_HUMAN	F	18	ENSP00000319744:L18F	ENSP00000319744:L18F	L	-	1	0	GPR4	50786913	1.000000	0.71417	1.000000	0.80357	0.180000	0.23129	1.723000	0.38053	2.365000	0.80145	0.313000	0.20887	CTC		0.672	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1	NM_005282		10	59	0	0	0	1	0	10	59				
PHTF1	10745	broad.mit.edu	37	1	114256026	114256026	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr1:114256026T>C	ENST00000369604.1	-	8	1141	c.658A>G	c.(658-660)Act>Gct	p.T220A	PHTF1_ENST00000369598.1_Missense_Mutation_p.T175A|PHTF1_ENST00000447664.2_Intron|PHTF1_ENST00000393357.2_Missense_Mutation_p.T220A|PHTF1_ENST00000369596.2_Missense_Mutation_p.T167A|PHTF1_ENST00000357783.2_Missense_Mutation_p.T220A|PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000369600.1_Missense_Mutation_p.T167A			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	220					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCAGTTTCAGTCCCTTTGTTA	0.318																																						ENST00000369604.1																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(658-660)Act>Gct		putative homeodomain transcription factor 1							117.0	114.0	115.0					1																	114256026		2202	4300	6502	SO:0001583	missense	10745					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:114256026T>C	AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.658A>G	1.37:g.114256026T>C	ENSP00000358617:p.Thr220Ala					PHTF1_ENST00000447664.2_Intron|PHTF1_ENST00000369596.2_Missense_Mutation_p.T167A|PHTF1_ENST00000393357.2_Missense_Mutation_p.T220A|PHTF1_ENST00000369598.1_Missense_Mutation_p.T175A|PHTF1_ENST00000357783.2_Missense_Mutation_p.T220A|PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000369600.1_Missense_Mutation_p.T167A	p.T220A			Q9UMS5	PHTF1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	8	1141	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	220					Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Missense_Mutation	SNP	ENST00000369604.1	37	c.658A>G	CCDS861.1	.	.	.	.	.	.	.	.	.	.	T	13.15	2.152037	0.38021	.	.	ENSG00000116793	ENST00000369597;ENST00000393357;ENST00000369596;ENST00000369598;ENST00000369600;ENST00000369604;ENST00000357783	.	.	.	5.55	4.42	0.53409	.	0.393724	0.26103	N	0.026331	T	0.12603	0.0306	N	0.24115	0.695	0.22253	N	0.999254	B;B;B	0.11235	0.004;0.0;0.003	B;B;B	0.16289	0.009;0.003;0.015	T	0.06180	-1.0841	9	0.38643	T	0.18	-19.4979	8.6126	0.33811	0.0:0.1484:0.0:0.8516	.	175;220;220	F5H7M5;Q9UMS5;Q9UMS5-2	.;PHTF1_HUMAN;.	A	175;220;167;175;167;220;220	.	ENSP00000350428:T220A	T	-	1	0	PHTF1	114057549	0.947000	0.32204	0.904000	0.35570	0.941000	0.58515	1.978000	0.40598	2.120000	0.65058	0.383000	0.25322	ACT		0.318	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032666.1	NM_006608		3	24	0	0	0	1	0	3	24				
ZNF658	26149	broad.mit.edu	37	9	40773282	40773282	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr9:40773282T>C	ENST00000602553.1	-	5	2287	c.1993A>G	c.(1993-1995)Aga>Gga	p.R665G	ZNF658_ENST00000377626.3_Missense_Mutation_p.R665G|ZNF658_ENST00000441795.1_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	665					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GTGAAAGATCTCCCACATTCA	0.403																																						ENST00000602553.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46						c.(1993-1995)Aga>Gga		zinc finger protein 658							90.0	94.0	93.0					9																	40773282		2202	4295	6497	SO:0001583	missense	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40773282T>C	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.1993A>G	9.37:g.40773282T>C	ENSP00000473484:p.Arg665Gly					ZNF658_ENST00000377626.3_Missense_Mutation_p.R665G|ZNF658_ENST00000441795.1_Intron	p.R665G			Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	5	2287	-			665					Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Missense_Mutation	SNP	ENST00000602553.1	37	c.1993A>G	CCDS35023.1	.	.	.	.	.	.	.	.	.	.	t	12.47	1.948712	0.34377	.	.	ENSG00000196409	ENST00000377626	T	0.35236	1.32	1.98	0.758	0.18432	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43166	0.1235	M	0.80847	2.515	0.29472	N	0.856988	P	0.42123	0.771	P	0.45474	0.482	T	0.44667	-0.9313	9	0.72032	D	0.01	.	6.3074	0.21147	0.0:0.0:0.2548:0.7452	.	665	Q5TYW1	ZN658_HUMAN	G	665	ENSP00000366853:R665G	ENSP00000366853:R665G	R	-	1	2	ZNF658	40763282	0.442000	0.25633	0.001000	0.08648	0.981000	0.71138	2.862000	0.48388	0.207000	0.20607	-0.692000	0.03713	AGA		0.403	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		3	156	0	0	0	1	0	3	156				
PRAMEF11	440560	broad.mit.edu	37	1	12887686	12887686	+	Silent	SNP	T	T	C	rs59802947	byFrequency	TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr1:12887686T>C	ENST00000535591.1	-	3	366	c.171A>G	c.(169-171)agA>agG	p.R57R		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	57					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.R57R(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAAGTTTCCATCTCCTGTGGG	0.468													.|||	5	0.000998403	0.0008	0.0	5008	,	,		21622	0.001		0.0	False		,,,				2504	0.0031					ENST00000535591.1																			1	Substitution - coding silent(1)	p.R57R(1)	endometrium(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(169-171)agA>agG		PRAME family member 11																																				SO:0001819	synonymous_variant	440560							g.chr1:12887686T>C	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.171A>G	1.37:g.12887686T>C							p.R57R	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	366	-			57						Silent	SNP	ENST00000535591.1	37	c.171A>G	CCDS53268.1																																																																																				0.468	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		3	219	0	0	0	1	0	3	219				
EHHADH	1962	broad.mit.edu	37	3	184936017	184936017	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr3:184936017A>C	ENST00000231887.3	-	5	550	c.475T>G	c.(475-477)Tta>Gta	p.L159V	EHHADH_ENST00000456310.1_Missense_Mutation_p.L63V|EHHADH_ENST00000475987.1_5'UTR	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	159	Enoyl-CoA hydratase / isomerase.				fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			TCATCTGCTAAAATACGTCTT	0.378																																						ENST00000231887.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24						c.(475-477)Tta>Gta		enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	NADH(DB00157)						130.0	129.0	130.0					3																	184936017		2203	4300	6503	SO:0001583	missense	1962					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	g.chr3:184936017A>C	L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"""enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"""	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.475T>G	3.37:g.184936017A>C	ENSP00000231887:p.Leu159Val					EHHADH_ENST00000475987.1_5'UTR|EHHADH_ENST00000456310.1_Missense_Mutation_p.L63V	p.L159V	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		5	550	-	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		159			Enoyl-CoA hydratase / isomerase.		A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Missense_Mutation	SNP	ENST00000231887.3	37	c.475T>G	CCDS33901.1	.	.	.	.	.	.	.	.	.	.	A	9.971	1.225427	0.22457	.	.	ENSG00000113790	ENST00000537544;ENST00000231887;ENST00000456310	T;T	0.71817	-0.6;-0.6	5.9	2.07	0.26955	Crotonase, core (1);	0.773988	0.12360	N	0.475711	T	0.55465	0.1922	L	0.34521	1.04	0.09310	N	0.999998	B	0.25390	0.125	B	0.32090	0.14	T	0.44967	-0.9293	10	0.30078	T	0.28	2.2538	2.3708	0.04330	0.5155:0.0:0.2753:0.2091	.	159	Q08426	ECHP_HUMAN	V	159;159;63	ENSP00000231887:L159V;ENSP00000387746:L63V	ENSP00000231887:L159V	L	-	1	2	EHHADH	186418711	0.325000	0.24660	0.016000	0.15963	0.508000	0.34012	0.958000	0.29227	0.446000	0.26666	0.528000	0.53228	TTA		0.378	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			29	104	0	0	0	1	0	29	104				
LRRC66	339977	broad.mit.edu	37	4	52883592	52883592	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr4:52883592G>A	ENST00000343457.3	-	1	194	c.188C>T	c.(187-189)gCc>gTc	p.A63V		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	63						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						ATCCACAGTGGCTGCTGTCTG	0.353																																						ENST00000343457.3																			0				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						c.(187-189)gCc>gTc		leucine rich repeat containing 66							72.0	73.0	73.0					4																	52883592		1842	4095	5937	SO:0001583	missense	339977					integral to membrane		g.chr4:52883592G>A	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.188C>T	4.37:g.52883592G>A	ENSP00000341944:p.Ala63Val						p.A63V	NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN			1	194	-			63						Missense_Mutation	SNP	ENST00000343457.3	37	c.188C>T	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	G	2.261	-0.369213	0.05069	.	.	ENSG00000188993	ENST00000343457	T	0.50813	0.73	5.01	0.813	0.18749	.	0.963902	0.08539	N	0.930920	T	0.29223	0.0727	L	0.29908	0.895	0.09310	N	1	B	0.25235	0.121	B	0.17722	0.019	T	0.21655	-1.0239	10	0.18276	T	0.48	-1.844	3.6903	0.08343	0.2156:0.0:0.2709:0.5135	.	63	Q68CR7	LRC66_HUMAN	V	63	ENSP00000341944:A63V	ENSP00000341944:A63V	A	-	2	0	LRRC66	52578349	0.007000	0.16637	0.000000	0.03702	0.005000	0.04900	1.473000	0.35387	-0.065000	0.13021	-0.188000	0.12872	GCC		0.353	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		5	42	0	0	0	1	0	5	42				
CYP2W1	54905	broad.mit.edu	37	7	1024635	1024635	+	Silent	SNP	G	G	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr7:1024635G>A	ENST00000308919.7	+	3	400	c.387G>A	c.(385-387)acG>acA	p.T129T	CYP2W1_ENST00000340150.6_Silent_p.T73T	NM_017781.2	NP_060251.2	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	129					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GCCAGTTCACGGTGCGTGCCC	0.652																																						ENST00000340150.6																			0				breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(217-219)acG>acA		cytochrome P450, family 2, subfamily W, polypeptide 1							32.0	39.0	36.0					7																	1024635		2202	4299	6501	SO:0001819	synonymous_variant	54905				xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr7:1024635G>A	AK000366	CCDS5319.2	7p22.3	2004-07-05			ENSG00000073067	ENSG00000073067		"""Cytochrome P450s"""	20243	protein-coding gene	gene with protein product		615967					Standard	XM_005249792		Approved	FLJ20359, MGC34287	uc003sjq.1	Q8TAV3	OTTHUMG00000074071	ENST00000308919.7:c.387G>A	7.37:g.1024635G>A						CYP2W1_ENST00000308919.7_Silent_p.T129T	p.T73T			Q8TAV3	CP2W1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)	3	241	+		Ovarian(82;0.0112)	129						Silent	SNP	ENST00000308919.7	37	c.219G>A	CCDS5319.2																																																																																				0.652	CYP2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157249.1	NM_017781		9	60	0	0	0	1	0	9	60				
MUC7	4589	broad.mit.edu	37	4	71346978	71346978	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr4:71346978T>C	ENST00000304887.5	+	3	707	c.517T>C	c.(517-519)Tct>Cct	p.S173P	MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000413702.1_Missense_Mutation_p.S173P|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	173	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.S173P(3)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.522																																						ENST00000413702.1																			3	Substitution - Missense(3)	p.S173P(3)	lung(2)|kidney(1)	central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(517-519)Tct>Cct		mucin 7, secreted							341.0	284.0	303.0					4																	71346978		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71346978T>C	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.517T>C	4.37:g.71346978T>C	ENSP00000302021:p.Ser173Pro					MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P	p.S173P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	805	+			173			Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.517T>C	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	T	8.294	0.818323	0.16607	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.52754	0.65;0.65;0.65	2.59	-1.83	0.07833	.	.	.	.	.	T	0.22360	0.0539	N	0.12182	0.205	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.19451	-1.0305	8	.	.	.	-1.8981	3.858	0.08984	0.0:0.2646:0.3931:0.3423	.	173	Q8TAX7	MUC7_HUMAN	P	173	ENSP00000407422:S173P;ENSP00000400585:S173P;ENSP00000302021:S173P	.	S	+	1	0	MUC7	71381567	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.097000	0.01348	-0.350000	0.08262	-0.605000	0.04089	TCT		0.522	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		3	145	0	0	0	1	0	3	145				
MYO7B	4648	broad.mit.edu	37	2	128351136	128351136	+	Missense_Mutation	SNP	C	C	T	rs375115392		TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr2:128351136C>T	ENST00000409816.2	+	17	2193	c.2161C>T	c.(2161-2163)Cgc>Tgc	p.R721C	MYO7B_ENST00000389524.4_Missense_Mutation_p.R721C|MYO7B_ENST00000428314.1_Missense_Mutation_p.R721C			Q6PIF6	MYO7B_HUMAN	myosin VIIB	721	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AGGCAAGCTCCGCCAGATGAC	0.612																																						ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(2161-2163)Cgc>Tgc		myosin VIIB		C	CYS/ARG	0,3886		0,0,1943	76.0	84.0	81.0		2161	4.8	0.1	2		81	1,8265		0,1,4132	no	missense	MYO7B	NM_001080527.1	180	0,1,6075	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging	721/2117	128351136	1,12151	1943	4133	6076	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128351136C>T		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.2161C>T	2.37:g.128351136C>T	ENSP00000386461:p.Arg721Cys					MYO7B_ENST00000409816.2_Missense_Mutation_p.R721C|MYO7B_ENST00000428314.1_Missense_Mutation_p.R721C	p.R721C			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	18	2214	+	Colorectal(110;0.1)		721			Myosin head-like.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.2161C>T	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	C	9.908	1.208658	0.22205	0.0	1.21E-4	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	D;D;D	0.87887	-2.31;-2.31;-2.31	4.78	4.78	0.61160	Myosin head, motor domain (2);	0.166550	0.43579	D	0.000545	D	0.95188	0.8440	H	0.96662	3.86	0.24255	N	0.995306	D	0.76494	0.999	P	0.60345	0.873	D	0.90146	0.4217	10	0.72032	D	0.01	.	17.1558	0.86791	0.0:1.0:0.0:0.0	.	721	Q6PIF6	MYO7B_HUMAN	C	721	ENSP00000374175:R721C;ENSP00000415090:R721C;ENSP00000386461:R721C	ENSP00000374175:R721C	R	+	1	0	MYO7B	128067606	0.336000	0.24757	0.125000	0.21846	0.048000	0.14542	3.597000	0.54031	2.372000	0.80975	0.561000	0.74099	CGC		0.612	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		3	115	0	0	0	1	0	3	115				
ZNF208	7757	broad.mit.edu	37	19	22155896	22155896	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr19:22155896A>C	ENST00000397126.4	-	4	2088	c.1940T>G	c.(1939-1941)aTt>aGt	p.I647S	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	647					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGAGACCTTAATAAAGGTTTT	0.398																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(1939-1941)aTt>aGt		zinc finger protein 208							108.0	112.0	110.0					19																	22155896		2126	4263	6389	SO:0001583	missense	7757							g.chr19:22155896A>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1940T>G	19.37:g.22155896A>C	ENSP00000380315:p.Ile647Ser					ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	p.I647S	NM_007153.3	NP_009084.2					4	2088	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.1940T>G	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.852850	0.00004	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.34472	1.36	2.49	-4.98	0.03019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12987	0.0315	.	.	.	0.09310	N	1	B	0.25441	0.126	B	0.28385	0.089	T	0.08932	-1.0698	8	0.02654	T	1	.	3.9444	0.09343	0.0966:0.28:0.437:0.1864	.	547	O43345	ZN208_HUMAN	S	647;547	ENSP00000380315:I647S	ENSP00000380315:I647S	I	-	2	0	ZNF208	21947736	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-9.082000	0.00014	-4.116000	0.00072	-4.061000	0.00012	ATT		0.398	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		5	87	0	0	0	1	0	5	87				
SPTBN2	6712	broad.mit.edu	37	11	66460020	66460020	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr11:66460020T>C	ENST00000533211.1	-	26	5508	c.5177A>G	c.(5176-5178)tAc>tGc	p.Y1726C	SPTBN2_ENST00000529997.1_Missense_Mutation_p.Y1726C|SPTBN2_ENST00000309996.2_Missense_Mutation_p.Y1726C			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1726					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CACATGCTCGTAGTCCTGGCC	0.647																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(5176-5178)tAc>tGc		spectrin, beta, non-erythrocytic 2							76.0	69.0	72.0					11																	66460020		2200	4295	6495	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66460020T>C	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.5177A>G	11.37:g.66460020T>C	ENSP00000432568:p.Tyr1726Cys					SPTBN2_ENST00000309996.2_Missense_Mutation_p.Y1726C|SPTBN2_ENST00000529997.1_Missense_Mutation_p.Y1726C	p.Y1726C			O15020	SPTN2_HUMAN			26	5508	-			1726					O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.5177A>G	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	t	14.77	2.634714	0.47049	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.50548	0.74;0.74;0.74	4.91	2.53	0.30540	.	0.137268	0.50627	D	0.000102	T	0.70885	0.3275	M	0.90977	3.165	0.50171	D	0.999854	D	0.89917	1.0	D	0.85130	0.997	T	0.71626	-0.4536	10	0.56958	D	0.05	.	9.3662	0.38226	0.2854:0.0:0.0:0.7146	.	1726	O15020	SPTN2_HUMAN	C	1726	ENSP00000432568:Y1726C;ENSP00000311489:Y1726C;ENSP00000433593:Y1726C	ENSP00000311489:Y1726C	Y	-	2	0	SPTBN2	66216596	0.999000	0.42202	0.932000	0.37286	0.409000	0.31022	2.711000	0.47177	0.341000	0.23771	-0.528000	0.04320	TAC		0.647	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		3	109	0	0	0	1	0	3	109				
FADS1	3992	broad.mit.edu	37	11	61574167	61574167	+	Silent	SNP	C	C	T			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr11:61574167C>T	ENST00000350997.7	-	6	1177	c.945G>A	c.(943-945)ccG>ccA	p.P315P	FADS1_ENST00000460649.1_5'Flank|FADS2_ENST00000574708.1_Intron|FADS1_ENST00000542506.1_Silent_p.P174P|FADS1_ENST00000536991.1_5'Flank|FADS1_ENST00000433932.1_Silent_p.P174P	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN	fatty acid desaturase 1	258					alpha-linolenic acid metabolic process (GO:0036109)|cell-cell signaling (GO:0007267)|cellular lipid metabolic process (GO:0044255)|cellular response to starvation (GO:0009267)|icosanoid biosynthetic process (GO:0046456)|linoleic acid metabolic process (GO:0043651)|phospholipid biosynthetic process (GO:0008654)|regulation of cell differentiation (GO:0045595)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	C-5 sterol desaturase activity (GO:0000248)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GGTGGTTGTACGGCATATATT	0.483																																						ENST00000350997.7																			0				central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4						c.(943-945)ccG>ccA		fatty acid desaturase 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						256.0	249.0	251.0					11																	61574167		2009	4182	6191	SO:0001819	synonymous_variant	3992				cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport	endoplasmic reticulum membrane|integral to membrane|microsome	C-5 sterol desaturase activity|heme binding|protein binding	g.chr11:61574167C>T		CCDS8011.2	11q12-q13.1	2013-01-25			ENSG00000149485	ENSG00000149485	1.14.19.3	"""Fatty acid desaturases"""	3574	protein-coding gene	gene with protein product	"""delta-5 desaturase"""	606148		LLCDL1			Standard	NM_013402		Approved	D5D, FADSD5, TU12, FADS6	uc010rlm.2	O60427	OTTHUMG00000157155	ENST00000350997.7:c.945G>A	11.37:g.61574167C>T						FADS1_ENST00000433932.1_Silent_p.P174P|FADS1_ENST00000542506.1_Silent_p.P174P|FADS2_ENST00000574708.1_Intron	p.P315P	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN			6	1177	-			258					A8K0I7|B2RAI0|Q53GM5|Q8N3A6|Q8NCC7|Q8NCG0|Q96I39|Q96SV3|Q96T10|Q9NRP8|Q9NYX1	Silent	SNP	ENST00000350997.7	37	c.945G>A	CCDS8011.2																																																																																				0.483	FADS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347648.2	NM_013402		20	110	0	0	0	1	0	20	110				
USP35	57558	broad.mit.edu	37	11	77924826	77924826	+	Silent	SNP	C	C	T			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr11:77924826C>T	ENST00000529308.1	+	11	3285	c.3024C>T	c.(3022-3024)ggC>ggT	p.G1008G	USP35_ENST00000530267.1_Silent_p.G576G|USP35_ENST00000526425.1_Silent_p.G739G|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000441408.2_Silent_p.G594G	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	1008					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CTGCAGGTGGCAATGGTGGTG	0.582																																						ENST00000529308.1																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23						c.(3022-3024)ggC>ggT		ubiquitin specific peptidase 35							69.0	72.0	71.0					11																	77924826		2060	4185	6245	SO:0001819	synonymous_variant	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77924826C>T	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.3024C>T	11.37:g.77924826C>T						USP35_ENST00000526425.1_Silent_p.G739G|USP35_ENST00000441408.2_Silent_p.G594G|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000530267.1_Silent_p.G576G	p.G1008G	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		11	3285	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		1008						Silent	SNP	ENST00000529308.1	37	c.3024C>T	CCDS41693.1																																																																																				0.582	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		4	74	0	0	0	1	0	4	74				
PRKG2	5593	broad.mit.edu	37	4	82064095	82064095	+	Silent	SNP	G	G	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr4:82064095G>A	ENST00000395578.1	-	11	1376	c.1260C>T	c.(1258-1260)tcC>tcT	p.S420S	PRKG2_ENST00000418486.2_Silent_p.S420S|PRKG2_ENST00000264399.1_Silent_p.S420S|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000545647.1_5'UTR			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	420					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						AGTTAGACATGGACCGCCTGT	0.438																																						ENST00000395578.1																			0				NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						c.(1258-1260)tcC>tcT		protein kinase, cGMP-dependent, type II							111.0	109.0	110.0					4																	82064095		2203	4300	6503	SO:0001819	synonymous_variant	5593				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr4:82064095G>A	X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.1260C>T	4.37:g.82064095G>A						PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000264399.1_Silent_p.S420S|PRKG2_ENST00000545647.1_5'UTR|PRKG2_ENST00000418486.2_Silent_p.S420S	p.S420S			Q13237	KGP2_HUMAN			11	1376	-			420					B4DMX3|E7EPE6|O00125|O60916	Silent	SNP	ENST00000395578.1	37	c.1260C>T	CCDS3589.1																																																																																				0.438	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259		13	69	0	0	0	1	0	13	69				
LRIG1	26018	broad.mit.edu	37	3	66428192	66428192	+	IGR	SNP	G	G	A	rs147162139		TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr3:66428192G>A	ENST00000273261.3	-	0	5273				SLC25A26_ENST00000336733.6_Silent_p.T174T|SLC25A26_ENST00000413054.1_3'UTR|SLC25A26_ENST00000354883.6_Silent_p.T262T|LRIG1_ENST00000496559.2_5'Flank|SLC25A26_ENST00000536651.1_3'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1						innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		ATGACCGAACGCACAGCTTGC	0.502																																						ENST00000354883.6																			0				endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)|stomach(2)|urinary_tract(1)	8						c.(784-786)acG>acA		solute carrier family 25 (S-adenosylmethionine carrier), member 26		G	,	0,4406		0,0,2203	141.0	140.0	140.0		522,786	-12.1	0.0	3	dbSNP_134	140	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SLC25A26	NM_001164796.1,NM_173471.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	174/187,262/275	66428192	1,13005	2203	4300	6503	SO:0001628	intergenic_variant	115286					integral to membrane|mitochondrial inner membrane|nucleus	S-adenosylmethionine transmembrane transporter activity	g.chr3:66428192G>A	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727		3.37:g.66428192G>A						SLC25A26_ENST00000336733.5_Silent_p.T174T|SLC25A26_ENST00000536651.1_3'UTR	p.T262T			Q70HW3	SAMC_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00046)|KIRC - Kidney renal clear cell carcinoma(15;0.0515)|Kidney(15;0.0648)	11	1514	+		Lung NSC(201;0.00774)	262					Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Silent	SNP	ENST00000273261.3	37	c.786G>A	CCDS33783.1																																																																																				0.502	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		4	198	0	0	0	1	0	4	198				
ZNF785	146540	broad.mit.edu	37	16	30594188	30594188	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr16:30594188C>A	ENST00000395216.2	-	3	1070	c.911G>T	c.(910-912)cGc>cTc	p.R304L	AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA|ZNF785_ENST00000470110.1_Missense_Mutation_p.R289L	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	304					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						GGTGTGTATGCGCCTGTGGAT	0.647																																						ENST00000395216.2																			0				endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						c.(910-912)cGc>cTc		zinc finger protein 785							54.0	59.0	57.0					16																	30594188		2197	4300	6497	SO:0001583	missense	146540				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30594188C>A	BC040642	CCDS10685.1	16p11.2	2013-01-08			ENSG00000197162	ENSG00000197162		"""Zinc fingers, C2H2-type"", ""-"""	26496	protein-coding gene	gene with protein product						10493829	Standard	NM_152458		Approved	FLJ32130	uc002dyu.3	A8K8V0	OTTHUMG00000132398	ENST00000395216.2:c.911G>T	16.37:g.30594188C>A	ENSP00000378642:p.Arg304Leu					AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA|ZNF785_ENST00000470110.1_Missense_Mutation_p.R289L	p.R304L	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN			3	1070	-			304					O75701|Q8IW91|Q8WV14|Q96MN0	Missense_Mutation	SNP	ENST00000395216.2	37	c.911G>T	CCDS10685.1	.	.	.	.	.	.	.	.	.	.	c	17.06	3.292803	0.60086	.	.	ENSG00000197162	ENST00000470110;ENST00000395222;ENST00000395216	T;T	0.25085	1.82;1.82	4.03	3.04	0.35103	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38506	0.1043	L	0.47016	1.485	0.09310	N	1	P;D;P	0.89917	0.953;1.0;0.942	P;D;B	0.83275	0.584;0.996;0.348	T	0.11591	-1.0581	9	0.72032	D	0.01	.	4.7595	0.13100	0.2164:0.673:0.0:0.1106	.	269;304;289	B4DQL1;A8K8V0;A8K8V0-2	.;ZN785_HUMAN;.	L	289;269;304	ENSP00000420340:R289L;ENSP00000378642:R304L	ENSP00000378642:R304L	R	-	2	0	ZNF785	30501689	0.000000	0.05858	0.001000	0.08648	0.042000	0.13812	-0.383000	0.07398	0.888000	0.36160	0.644000	0.83932	CGC		0.647	ZNF785-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255529.2	NM_152458		3	47	1	0	0.000602214	1	0.000619927	3	47				
TEX15	56154	broad.mit.edu	37	8	30701810	30701810	+	Missense_Mutation	SNP	G	G	A	rs186835775		TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr8:30701810G>A	ENST00000256246.2	-	1	4798	c.4724C>T	c.(4723-4725)aCg>aTg	p.T1575M		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1575					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TAAAATAGGCGTATGATTAAC	0.388													G|||	1	0.000199681	0.0	0.0	5008	,	,		20286	0.001		0.0	False		,,,				2504	0.0					ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(4723-4725)aCg>aTg		testis expressed 15							148.0	147.0	148.0					8																	30701810		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30701810G>A	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.4724C>T	8.37:g.30701810G>A	ENSP00000256246:p.Thr1575Met						p.T1575M	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	4798	-			1575						Missense_Mutation	SNP	ENST00000256246.2	37	c.4724C>T	CCDS6080.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.46	1.645582	0.29246	.	.	ENSG00000133863	ENST00000256246	T	0.09163	3.01	5.47	-10.6	0.00265	.	1.940030	0.02070	N	0.051467	T	0.02342	0.0072	N	0.00707	-1.245	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.48246	-0.9052	10	0.87932	D	0	.	2.3924	0.04381	0.1879:0.4347:0.1513:0.2261	.	1575	Q9BXT5	TEX15_HUMAN	M	1575	ENSP00000256246:T1575M	ENSP00000256246:T1575M	T	-	2	0	TEX15	30821352	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.226000	0.01211	-1.004000	0.03421	-0.290000	0.09829	ACG		0.388	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			9	104	0	0	0	1	0	9	104				
MESP1	55897	broad.mit.edu	37	15	90293435	90293435	+	Silent	SNP	A	A	C			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr15:90293435A>C	ENST00000300057.4	-	2	825	c.747T>G	c.(745-747)gcT>gcG	p.A249A	MESP1_ENST00000559894.1_5'UTR	NM_018670.3	NP_061140.1	Q9BRJ9	MESP1_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 1	249					cardiac atrium formation (GO:0003210)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell differentiation (GO:0055007)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cardiac ventricle formation (GO:0003211)|cardioblast anterior-lateral migration (GO:0003259)|cardioblast migration to the midline involved in heart field formation (GO:0060975)|embryonic heart tube morphogenesis (GO:0003143)|endothelial cell differentiation (GO:0045446)|gastrulation (GO:0007369)|growth involved in heart morphogenesis (GO:0003241)|heart looping (GO:0001947)|lateral mesoderm development (GO:0048368)|mesodermal cell migration (GO:0008078)|negative regulation of endodermal cell fate specification (GO:0042664)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of transcription, DNA-templated (GO:0045892)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway (GO:0090082)|positive regulation of hepatocyte differentiation (GO:0070368)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of Notch signaling pathway involved in heart induction (GO:0035481)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|secondary heart field specification (GO:0003139)|signal transduction involved in regulation of gene expression (GO:0023019)|sinoatrial node cell differentiation (GO:0060921)|sinus venosus morphogenesis (GO:0003236)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|kidney(1)	2	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			TCTCCAACAGAGCCAGCACGT	0.647																																						ENST00000300057.4																			0				NS(1)|kidney(1)	2						c.(745-747)gcT>gcG		mesoderm posterior 1 homolog (mouse)							75.0	75.0	75.0					15																	90293435		2200	4299	6499	SO:0001819	synonymous_variant	55897				cardiac atrium formation|cardiac cell fate determination|cardiac vascular smooth muscle cell differentiation|cardiac ventricle formation|cardioblast anterior-lateral migration|cardioblast migration to the midline involved in heart field formation|endothelial cell differentiation|gastrulation|growth involved in heart morphogenesis|heart looping|lateral mesoderm development|negative regulation of endodermal cell fate specification|negative regulation of mesodermal cell fate specification|negative regulation of transcription, DNA-dependent|neurogenesis|Notch signaling pathway|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|positive regulation of hepatocyte differentiation|positive regulation of Notch signaling pathway|positive regulation of striated muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|secondary heart field specification|sinoatrial node cell differentiation|sinus venosus morphogenesis		sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr15:90293435A>C		CCDS10355.1	15q26.1	2014-06-30	2014-06-30		ENSG00000166823	ENSG00000166823		"""Basic helix-loop-helix proteins"""	29658	protein-coding gene	gene with protein product		608689	"""mesoderm posterior 1 homolog (mouse)"""			8787751, 11578861	Standard	NM_018670		Approved	MGC10676, bHLHc5	uc002bol.3	Q9BRJ9	OTTHUMG00000149810	ENST00000300057.4:c.747T>G	15.37:g.90293435A>C						MESP1_ENST00000559894.1_5'UTR	p.A249A	NM_018670.3	NP_061140.1	Q9BRJ9	MESP1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)		2	825	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		249					Q9NSF1|Q9NSF2	Silent	SNP	ENST00000300057.4	37	c.747T>G	CCDS10355.1																																																																																				0.647	MESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313421.1	NM_018670		11	73	0	0	0	1	0	11	73				
EIF3M	10480	broad.mit.edu	37	11	32610273	32610273	+	Silent	SNP	G	G	A	rs531170953	byFrequency	TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr11:32610273G>A	ENST00000531120.1	+	3	372	c.309G>A	c.(307-309)ctG>ctA	p.L103L	EIF3M_ENST00000524896.1_Intron	NM_006360.4	NP_006351.2			eukaryotic translation initiation factor 3, subunit M											breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16	Breast(20;0.109)					CTCTGAGACTGCAGTTGTAAG	0.408																																						ENST00000531120.1																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(307-309)ctG>ctA		eukaryotic translation initiation factor 3, subunit M							142.0	135.0	137.0					11																	32610273		2202	4299	6501	SO:0001819	synonymous_variant	10480					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr11:32610273G>A	AK131064	CCDS7880.1	11p13	2012-12-13	2007-07-27	2007-07-27	ENSG00000149100	ENSG00000149100			24460	protein-coding gene	gene with protein product	"""transport and golgi organization 7 homolog (Drosophila)"""	609641	"""PCI domain containing 1 (herpesvirus entry mediator)"""	PCID1		15919898, 15919899	Standard	NM_006360		Approved	hfl-B5, FLJ29030, GA17, eIF3m, TANGO7	uc001mtu.4	Q7L2H7	OTTHUMG00000166258	ENST00000531120.1:c.309G>A	11.37:g.32610273G>A						EIF3M_ENST00000524896.1_Intron	p.L103L	NM_006360.4	NP_006351.2	Q7L2H7	EIF3M_HUMAN			3	372	+	Breast(20;0.109)		103						Silent	SNP	ENST00000531120.1	37	c.309G>A	CCDS7880.1																																																																																				0.408	EIF3M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388762.2	NM_006360		4	122	0	0	0	1	0	4	122				
ANKDD1A	348094	broad.mit.edu	37	15	65234714	65234714	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr15:65234714G>T	ENST00000380230.3	+	10	947	c.918G>T	c.(916-918)ttG>ttT	p.L306F	ANKDD1A_ENST00000357698.3_Missense_Mutation_p.L306F|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.L306F|ANKDD1A_ENST00000395723.1_Missense_Mutation_p.L215F	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	306					signal transduction (GO:0007165)					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						TCCCTGCCTTGGTCCGGCTCC	0.602																																						ENST00000380230.3																			0				NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						c.(916-918)ttG>ttT		ankyrin repeat and death domain containing 1A							85.0	56.0	66.0					15																	65234714		2202	4299	6501	SO:0001583	missense	348094				signal transduction			g.chr15:65234714G>T		CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839		"""Ankyrin repeat domain containing"""	28002	protein-coding gene	gene with protein product						12477932	Standard	NM_182703		Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.918G>T	15.37:g.65234714G>T	ENSP00000369579:p.Leu306Phe					ANKDD1A_ENST00000357698.3_Missense_Mutation_p.L306F|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.L306F|ANKDD1A_ENST00000395723.1_Missense_Mutation_p.L215F	p.L306F	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN			10	947	+			306					Q495B2|Q495B3|Q8N7A0|Q8NBS5	Missense_Mutation	SNP	ENST00000380230.3	37	c.918G>T	CCDS10197.2	.	.	.	.	.	.	.	.	.	.	G	11.64	1.699175	0.30142	.	.	ENSG00000166839	ENST00000380230;ENST00000357698;ENST00000395720;ENST00000395723	T;T;T;T	0.65364	-0.1;-0.15;-0.1;-0.15	4.63	2.64	0.31445	Ankyrin repeat-containing domain (3);	0.122335	0.33813	N	0.004526	T	0.53498	0.1800	L	0.60845	1.875	0.31129	N	0.707932	P	0.39920	0.695	B	0.39617	0.305	T	0.61667	-0.7016	10	0.87932	D	0	-5.5882	5.0961	0.14735	0.1755:0.0:0.6489:0.1756	.	306	Q495B1	AKD1A_HUMAN	F	306;306;306;215	ENSP00000369579:L306F;ENSP00000350329:L306F;ENSP00000379070:L306F;ENSP00000379073:L215F	ENSP00000350329:L306F	L	+	3	2	ANKDD1A	63021767	0.878000	0.30173	0.145000	0.22337	0.786000	0.44442	0.278000	0.18753	1.114000	0.41781	0.561000	0.74099	TTG		0.602	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256705.2	NM_182703		3	42	1	0	0.0215528	1	0.0218651	3	42				
STT3A	3703	broad.mit.edu	37	11	125472775	125472775	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr11:125472775G>A	ENST00000529196.1	+	6	555	c.349G>A	c.(349-351)Gtg>Atg	p.V117M	STT3A_ENST00000531491.1_Missense_Mutation_p.V25M|STT3A_ENST00000392708.4_Missense_Mutation_p.V117M			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	117				V -> M (in Ref. 3; BAG58686). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		GAATGTCTGTGTGTTCCTGGC	0.488																																						ENST00000392708.4																			0				NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33						c.(349-351)Gtg>Atg		STT3A, subunit of the oligosaccharyltransferase complex (catalytic)							242.0	199.0	214.0					11																	125472775		2201	4299	6500	SO:0001583	missense	3703				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity	g.chr11:125472775G>A	BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"""dolichyl-diphosphooligosaccharide protein glycotransferase"""	601134	"""integral membrane protein 1"", ""STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)"", ""STT3A, cataylic subunit of the oligosaccharyltransferase complex"""	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.349G>A	11.37:g.125472775G>A	ENSP00000436962:p.Val117Met					STT3A_ENST00000529196.1_Missense_Mutation_p.V117M|STT3A_ENST00000531491.1_Missense_Mutation_p.V25M	p.V117M	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)	5	508	+	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)	117					B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Missense_Mutation	SNP	ENST00000529196.1	37	c.349G>A	CCDS8458.1	.	.	.	.	.	.	.	.	.	.	G	33	5.226775	0.95173	.	.	ENSG00000134910	ENST00000527606;ENST00000392708;ENST00000529196;ENST00000531491;ENST00000529886	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.90239	0.6948	H	0.96604	3.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92733	0.6201	9	0.87932	D	0	-18.4132	19.7913	0.96458	0.0:0.0:1.0:0.0	.	25;117	E9PNQ1;P46977	.;STT3A_HUMAN	M	117;117;117;25;117	.	ENSP00000376472:V117M	V	+	1	0	STT3A	124977985	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.840000	0.97914	0.655000	0.94253	GTG		0.488	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386691.1	NM_152713		22	55	0	0	0	1	0	22	55				
SCRN2	90507	broad.mit.edu	37	17	45916217	45916217	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr17:45916217G>A	ENST00000290216.9	-	5	837	c.712C>T	c.(712-714)Cgc>Tgc	p.R238C	SCRN2_ENST00000407215.3_Missense_Mutation_p.R238C|SCRN2_ENST00000584123.1_Missense_Mutation_p.R246C	NM_001145023.1|NM_138355.3	NP_001138495.1|NP_612364.2	Q96FV2	SCRN2_HUMAN	secernin 2	238						extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						GCCTCCATGCGCACAGGCTGC	0.672																																						ENST00000407215.3																			0				cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						c.(712-714)Cgc>Tgc		secernin 2							76.0	80.0	78.0					17																	45916217		2203	4300	6503	SO:0001583	missense	90507				proteolysis		dipeptidase activity	g.chr17:45916217G>A	BC002980	CCDS11519.1, CCDS45723.1	17q21	2008-02-05							30381	protein-coding gene	gene with protein product		614966				12221138	Standard	NM_001145023		Approved		uc002imd.3	Q96FV2		ENST00000290216.9:c.712C>T	17.37:g.45916217G>A	ENSP00000290216:p.Arg238Cys					SCRN2_ENST00000584123.1_Missense_Mutation_p.R246C|SCRN2_ENST00000290216.9_Missense_Mutation_p.R238C	p.R238C			Q96FV2	SCRN2_HUMAN			5	793	-			238					A8K3N1|B7Z8S7|E9PBV5|Q96AC3|Q9BU04	Missense_Mutation	SNP	ENST00000290216.9	37	c.712C>T	CCDS11519.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.391200	0.82902	.	.	ENSG00000141295	ENST00000290216;ENST00000407215	T;T	0.09911	3.08;2.93	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.37625	0.1010	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.11227	-1.0596	10	0.56958	D	0.05	-25.7155	18.197	0.89825	0.0:0.0:1.0:0.0	.	238;238;238	E9PBV5;Q96FV2;B7Z8S7	.;SCRN2_HUMAN;.	C	238	ENSP00000290216:R238C;ENSP00000383935:R238C	ENSP00000290216:R238C	R	-	1	0	SCRN2	43271216	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.415000	0.59809	2.588000	0.87417	0.655000	0.94253	CGC		0.672	SCRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441383.1	NM_138355		5	136	0	0	0	1	0	5	136				
QRICH1	54870	broad.mit.edu	37	3	49094329	49094329	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr3:49094329T>G	ENST00000395443.2	-	3	1776	c.1304A>C	c.(1303-1305)cAg>cCg	p.Q435P	QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000424300.1_Missense_Mutation_p.Q435P|QRICH1_ENST00000357496.2_Missense_Mutation_p.Q435P	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	435	Gln-rich.					nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		ctgctgctgctgtggtggtgg	0.562																																						ENST00000395443.2																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(1303-1305)cAg>cCg		glutamine-rich 1							56.0	59.0	58.0					3																	49094329		2203	4300	6503	SO:0001583	missense	54870							g.chr3:49094329T>G		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.1304A>C	3.37:g.49094329T>G	ENSP00000378830:p.Gln435Pro					QRICH1_ENST00000424300.1_Missense_Mutation_p.Q435P|QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000357496.2_Missense_Mutation_p.Q435P	p.Q435P	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	1776	-			435			Gln-rich.		Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	37	c.1304A>C	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	T	5.645	0.303697	0.10678	.	.	ENSG00000198218	ENST00000395443;ENST00000357496;ENST00000424300	.	.	.	5.43	1.78	0.24846	.	0.841724	0.11273	N	0.581264	T	0.28333	0.0700	N	0.08118	0	0.30548	N	0.765714	B	0.02656	0.0	B	0.01281	0.0	T	0.19679	-1.0298	9	0.28530	T	0.3	-0.0185	13.1216	0.59329	0.0:0.0:0.2998:0.7002	.	435	Q2TAL8	QRIC1_HUMAN	P	435	.	ENSP00000350094:Q435P	Q	-	2	0	QRICH1	49069333	0.520000	0.26250	0.659000	0.29680	0.912000	0.54170	0.726000	0.25984	0.069000	0.16605	0.533000	0.62120	CAG		0.562	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		3	66	0	0	0	1	0	3	66				
MADD	8567	broad.mit.edu	37	11	47296303	47296303	+	Silent	SNP	G	G	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr11:47296303G>A	ENST00000311027.5	+	3	417	c.252G>A	c.(250-252)aaG>aaA	p.K84K	MADD_ENST00000395344.3_Silent_p.K84K|MADD_ENST00000402799.1_Silent_p.K84K|MADD_ENST00000406482.1_Silent_p.K84K|MADD_ENST00000342922.4_Silent_p.K84K|MADD_ENST00000402192.2_Silent_p.K84K|MADD_ENST00000407859.3_Silent_p.K84K|MADD_ENST00000349238.3_Silent_p.K84K|RP11-17G12.3_ENST00000545474.1_RNA|MADD_ENST00000395336.3_Silent_p.K84K|RP11-17G12.3_ENST00000543925.1_RNA	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TCACTGACAAGGACACTGGAG	0.567																																						ENST00000342922.4																			0				breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84						c.(250-252)aaG>aaA		MAP-kinase activating death domain							118.0	115.0	116.0					11																	47296303		2201	4298	6499	SO:0001819	synonymous_variant	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47296303G>A	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.252G>A	11.37:g.47296303G>A						MADD_ENST00000407859.3_Silent_p.K84K|MADD_ENST00000311027.5_Silent_p.K84K|MADD_ENST00000406482.1_Silent_p.K84K|MADD_ENST00000402799.1_Silent_p.K84K|MADD_ENST00000395344.3_Silent_p.K84K|MADD_ENST00000402192.2_Silent_p.K84K|MADD_ENST00000349238.3_Silent_p.K84K|MADD_ENST00000395336.3_Silent_p.K84K	p.K84K	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	3	609	+			84			UDENN.			Silent	SNP	ENST00000311027.5	37	c.252G>A	CCDS7930.1																																																																																				0.567	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			3	135	0	0	0	1	0	3	135				
OR11H4	390442	broad.mit.edu	37	14	20711208	20711208	+	Silent	SNP	C	C	T	rs150420661		TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr14:20711208C>T	ENST00000315409.2	+	1	311	c.258C>T	c.(256-258)tcC>tcT	p.S86S		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		ATGTGTCCTCCACTATTCCTA	0.453																																						ENST00000315409.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29						c.(256-258)tcC>tcT		olfactory receptor, family 11, subfamily H, member 4		C		1,4405	2.1+/-5.4	0,1,2202	167.0	162.0	164.0		258	3.7	1.0	14	dbSNP_134	164	0,8600		0,0,4300	no	coding-synonymous	OR11H4	NM_001004479.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		86/325	20711208	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	390442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20711208C>T		CCDS32034.1	14q11.2	2013-09-24			ENSG00000176198	ENSG00000176198		"""GPCR / Class A : Olfactory receptors"""	15347	protein-coding gene	gene with protein product							Standard	NM_001004479		Approved		uc010tld.2	Q8NGC9	OTTHUMG00000170852	ENST00000315409.2:c.258C>T	14.37:g.20711208C>T							p.S86S	NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)	1	311	+	all_cancers(95;0.000888)		86					B2RNQ4|Q6IF07	Silent	SNP	ENST00000315409.2	37	c.258C>T	CCDS32034.1																																																																																				0.453	OR11H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410678.1			5	166	0	0	0	1	0	5	166				
OR13C9	286362	broad.mit.edu	37	9	107379676	107379676	+	Silent	SNP	T	T	C	rs185432775	byFrequency	TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr9:107379676T>C	ENST00000259362.1	-	1	809	c.810A>G	c.(808-810)tcA>tcG	p.S270S		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						CCAAGTCATCTGAATTAAGTG	0.403													T|||	2	0.000399361	0.0015	0.0	5008	,	,		20021	0.0		0.0	False		,,,				2504	0.0					ENST00000259362.1																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						c.(808-810)tcA>tcG		olfactory receptor, family 13, subfamily C, member 9							158.0	145.0	150.0					9																	107379676		2203	4300	6503	SO:0001819	synonymous_variant	286362				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107379676T>C		CCDS35093.1	9q31.1	2013-09-24			ENSG00000136839	ENSG00000136839		"""GPCR / Class A : Olfactory receptors"""	15104	protein-coding gene	gene with protein product							Standard	NM_001001956		Approved		uc011lvr.2	Q8NGT0	OTTHUMG00000020416	ENST00000259362.1:c.810A>G	9.37:g.107379676T>C							p.S270S	NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN			1	809	-			270					Q6IFL2	Silent	SNP	ENST00000259362.1	37	c.810A>G	CCDS35093.1																																																																																				0.403	OR13C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053490.1			4	86	0	0	0	1	0	4	86				
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	SNORD51_ENST00000384320.2_RNA|NDUFS1_ENST00000432169.1_5'Flank|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000455934.2_5'Flank|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000233190.6_5'Flank|NDUFS1_ENST00000449699.1_5'Flank|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|NDUFS1_ENST00000423725.1_5'Flank|NDUFS1_ENST00000440274.1_5'Flank	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468																																						ENST00000392222.2																			4	Substitution - Missense(4)	p.S43G(4)	endometrium(2)|lung(1)|kidney(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(127-129)Agc>Ggc		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025358		2203	4300	6503	SO:0001583	missense	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025358A>G	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.127A>G	2.37:g.207025358A>G	ENSP00000376056:p.Ser43Gly					EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G	p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN			2	502	+			43			GST C-terminal.		A8K795|Q6IBH9	Missense_Mutation	SNP	ENST00000392222.2	37	c.127A>G	CCDS2367.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.585588	0.00872	.	.	ENSG00000114942	ENST00000236957;ENST00000392221;ENST00000392222;ENST00000445505	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.47	0.911	0.19343	Glutathione S-transferase, C-terminal-like (2);	0.442134	0.26800	N	0.022437	T	0.19846	0.0477	N	0.16098	0.37	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18745	-1.0327	10	0.17832	T	0.49	-2.1703	6.3337	0.21285	0.2348:0.0:0.6384:0.1268	.	43	P24534	EF1B_HUMAN	G	43	ENSP00000236957:S43G;ENSP00000376055:S43G;ENSP00000376056:S43G;ENSP00000407730:S43G	ENSP00000236957:S43G	S	+	1	0	EEF1B2	206733603	0.049000	0.20398	0.145000	0.22337	0.051000	0.14879	0.879000	0.28146	-0.027000	0.13873	-0.252000	0.11476	AGC		0.468	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		5	88	0	0	0	1	0	5	88				
FGF5	2250	broad.mit.edu	37	4	81207627	81207627	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr4:81207627G>A	ENST00000312465.7	+	3	834	c.608G>A	c.(607-609)aGc>aAc	p.S203N	FGF5_ENST00000456523.3_3'UTR|FGF5_ENST00000503413.1_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	203					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						CGAGGGTGCAGCCCCCGGGTT	0.473																																						ENST00000312465.7																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(607-609)aGc>aAc		fibroblast growth factor 5							75.0	83.0	80.0					4																	81207627		2203	4300	6503	SO:0001583	missense	2250				cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity	g.chr4:81207627G>A	M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"""Endogenous ligands"""	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.608G>A	4.37:g.81207627G>A	ENSP00000311697:p.Ser203Asn					FGF5_ENST00000503413.1_3'UTR|FGF5_ENST00000456523.3_3'UTR	p.S203N	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN			3	834	+			203					B2R554|O75846|Q3Y8M3|Q8NF90	Missense_Mutation	SNP	ENST00000312465.7	37	c.608G>A	CCDS34021.1	.	.	.	.	.	.	.	.	.	.	G	32	5.132963	0.94517	.	.	ENSG00000138675	ENST00000312465	T	0.76578	-1.03	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.84538	0.5494	L	0.38175	1.15	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85190	0.1009	10	0.72032	D	0.01	.	20.0851	0.97797	0.0:0.0:1.0:0.0	.	203	P12034	FGF5_HUMAN	N	203	ENSP00000311697:S203N	ENSP00000311697:S203N	S	+	2	0	FGF5	81426651	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	9.800000	0.99124	2.758000	0.94735	0.650000	0.86243	AGC		0.473	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252627.2			3	91	0	0	0	1	0	3	91				
PRKCB	5579	broad.mit.edu	37	16	24105528	24105528	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr16:24105528T>C	ENST00000321728.7	+	7	906	c.731T>C	c.(730-732)aTt>aCt	p.I244T	PRKCB_ENST00000303531.7_Missense_Mutation_p.I244T|PRKCB_ENST00000482000.1_3'UTR	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	244	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	TCAGTAGAGATTTGGGATTGG	0.418																																						ENST00000303531.7																			0				central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9						c.(730-732)aTt>aCt		protein kinase C, beta	Vitamin E(DB00163)						154.0	141.0	145.0					16																	24105528		2197	4300	6497	SO:0001583	missense	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24105528T>C	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.731T>C	16.37:g.24105528T>C	ENSP00000318315:p.Ile244Thr					PRKCB_ENST00000321728.7_Missense_Mutation_p.I244T|PRKCB_ENST00000482000.1_3'UTR	p.I244T	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN			7	883	+			244			C2.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.731T>C	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	T	17.04	3.287943	0.59976	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.49139	0.79;0.79	5.52	5.52	0.82312	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.060545	0.64402	D	0.000003	T	0.47525	0.1450	L	0.46885	1.475	0.58432	D	0.999997	B;B	0.20780	0.039;0.048	B;B	0.33121	0.098;0.158	T	0.42430	-0.9452	10	0.42905	T	0.14	.	14.8443	0.70249	0.0:0.0:0.0:1.0	.	244;244	P05771-2;P05771	.;KPCB_HUMAN	T	244	ENSP00000318315:I244T;ENSP00000305355:I244T	ENSP00000305355:I244T	I	+	2	0	PRKCB	24013029	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.643000	0.83403	2.088000	0.63022	0.533000	0.62120	ATT		0.418	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		17	52	0	0	0	1	0	17	52				
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	lincRNA	SNP	G	G	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1				long intergenic non-protein coding RNA 264																		ACCAAGCCCAGTGGACAGATG	0.443																																						ENST00000412114.1																			0																																																			0							g.chr10:26880266G>A			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880266G>A								NR_026793.1						0	501	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.443	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		5	42	0	0	0	1	0	5	42				
CLGN	1047	broad.mit.edu	37	4	141317054	141317054	+	Silent	SNP	A	A	G	rs200382827		TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr4:141317054A>G	ENST00000325617.5	-	10	1508	c.1068T>C	c.(1066-1068)ggT>ggC	p.G356G	CLGN_ENST00000537281.1_Silent_p.G356G|CLGN_ENST00000414773.1_Silent_p.G356G	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	356					binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					GTTTCCACTCACCACACCCAA	0.433													A|||	1	0.000199681	0.0	0.0	5008	,	,		16351	0.0		0.001	False		,,,				2504	0.0					ENST00000325617.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25						c.(1066-1068)ggT>ggC		calmegin							99.0	93.0	95.0					4																	141317054		2203	4300	6503	SO:0001819	synonymous_variant	1047				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding	g.chr4:141317054A>G	D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132			2060	protein-coding gene	gene with protein product		601858					Standard	NM_004362		Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.1068T>C	4.37:g.141317054A>G						CLGN_ENST00000537281.1_Silent_p.G356G|CLGN_ENST00000414773.1_Silent_p.G356G	p.G356G	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN			10	1508	-	all_hematologic(180;0.162)		356					B3KS90|B4DXV8|D3DNY8	Silent	SNP	ENST00000325617.5	37	c.1068T>C	CCDS3751.1																																																																																				0.433	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257272.2	NM_004362		3	63	0	0	0	1	0	3	63				
OR10J1	26476	broad.mit.edu	37	1	159410187	159410187	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr1:159410187T>G	ENST00000423932.3	+	1	676	c.639T>G	c.(637-639)agT>agG	p.S213R	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	213					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TGATTATCAGTGTGCTGGTGC	0.458																																						ENST00000423932.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25						c.(637-639)agT>agG		olfactory receptor, family 10, subfamily J, member 1							274.0	250.0	258.0					1																	159410187		2203	4300	6503	SO:0001583	missense	26476				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr1:159410187T>G	X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"""GPCR / Class A : Olfactory receptors"""	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.639T>G	1.37:g.159410187T>G	ENSP00000399078:p.Ser213Arg					RP11-550P17.5_ENST00000431862.1_RNA	p.S213R	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN			1	676	+	all_hematologic(112;0.0429)		213					Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Missense_Mutation	SNP	ENST00000423932.3	37	c.639T>G	CCDS1185.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.328331	0.41197	.	.	ENSG00000196184	ENST00000423932	T	0.39229	1.09	4.42	-4.33	0.03677	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000180	T	0.26268	0.0641	M	0.78344	2.41	0.09310	N	1	P	0.35944	0.529	B	0.44163	0.443	T	0.41893	-0.9483	10	0.72032	D	0.01	.	6.5945	0.22666	0.0:0.4104:0.2659:0.3237	.	213	P30954	O10J1_HUMAN	R	213	ENSP00000399078:S213R	ENSP00000399078:S213R	S	+	3	2	OR10J1	157676811	0.000000	0.05858	0.000000	0.03702	0.914000	0.54420	-0.449000	0.06812	-1.015000	0.03375	-0.280000	0.10049	AGT		0.458	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059020.1	NM_012351		20	106	0	0	0	1	0	20	106				
EXOC8	149371	broad.mit.edu	37	1	231471575	231471575	+	Silent	SNP	C	C	T			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr1:231471575C>T	ENST00000360394.2	-	1	2003	c.1917G>A	c.(1915-1917)ctG>ctA	p.L639L	SPRTN_ENST00000295050.7_5'Flank|SPRTN_ENST00000391858.4_5'Flank|SPRTN_ENST00000008440.9_5'Flank|EXOC8_ENST00000366645.1_Silent_p.L635L	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	639					cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				GTACCATGTGCAGCTCTGGGA	0.478																																						ENST00000366645.1																			0				cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14						c.(1903-1905)ctG>ctA		exocyst complex component 8							99.0	104.0	102.0					1																	231471575		2203	4300	6503	SO:0001819	synonymous_variant	149371				exocytosis|protein transport	growth cone|nucleus	protein binding	g.chr1:231471575C>T	AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.1917G>A	1.37:g.231471575C>T						EXOC8_ENST00000360394.2_Silent_p.L639L	p.L635L			Q8IYI6	EXOC8_HUMAN			1	2023	-	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)	639					B3KU33|Q5TE82	Silent	SNP	ENST00000360394.2	37	c.1905G>A	CCDS1593.1																																																																																				0.478	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_175876		13	77	0	0	0	1	0	13	77				
MTMR4	9110	broad.mit.edu	37	17	56585536	56585536	+	Silent	SNP	G	G	A	rs371605696		TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr17:56585536G>A	ENST00000323456.5	-	8	775	c.651C>T	c.(649-651)ccC>ccT	p.P217P	MTMR4_ENST00000579925.1_Silent_p.P217P	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	217	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACACAACCACGGGAATCCGCT	0.522																																						ENST00000323456.5																			0				breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36						c.(649-651)ccC>ccT		myotubularin related protein 4		G		0,4406		0,0,2203	64.0	60.0	61.0		651	-6.1	0.9	17		61	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	MTMR4	NM_004687.4		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		217/1196	56585536	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56585536G>A	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.651C>T	17.37:g.56585536G>A						MTMR4_ENST00000579925.1_Silent_p.P217P	p.P217P	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN			8	775	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		217			Myotubularin phosphatase.		D3DTZ6|Q8IV27|Q9Y4D5	Silent	SNP	ENST00000323456.5	37	c.651C>T	CCDS11608.1																																																																																				0.522	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		33	82	0	0	0	1	0	33	82				
MLLT3	4300	broad.mit.edu	37	9	20414280	20414280	+	Silent	SNP	G	G	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr9:20414280G>A	ENST00000380338.4	-	5	850	c.564C>T	c.(562-564)agC>agT	p.S188S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S185S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	188	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S188S(1)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TGGTActactgctgctgctgc	0.502			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		1	Substitution - coding silent(1)	p.S188S(1)	large_intestine(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(562-564)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							77.0	84.0	82.0					9																	20414280		2203	4300	6503	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414280G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.564C>T	9.37:g.20414280G>A						MLLT3_ENST00000429426.2_Silent_p.S185S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	p.S188S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	850	-			188			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.564C>T	CCDS6494.1																																																																																				0.502	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	71	0	0	0	1	0	5	71				
NNT	23530	broad.mit.edu	37	5	43700278	43700278	+	Silent	SNP	T	T	G			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr5:43700278T>G	ENST00000264663.5	+	20	3155	c.2934T>G	c.(2932-2934)gcT>gcG	p.A978A	NNT_ENST00000512996.2_Silent_p.A847A|NNT_ENST00000344920.4_Silent_p.A978A	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	978					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					TGCTGCTGGCTGAGGCTGGTG	0.453																																						ENST00000264663.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2932-2934)gcT>gcG		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						175.0	166.0	169.0					5																	43700278		2203	4300	6503	SO:0001819	synonymous_variant	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43700278T>G	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.2934T>G	5.37:g.43700278T>G						NNT_ENST00000344920.4_Silent_p.A978A|NNT_ENST00000512996.2_Silent_p.A847A	p.A978A	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN			20	3155	+	Lung NSC(6;2.58e-06)		978					Q16796|Q2TB60|Q8N3V4	Silent	SNP	ENST00000264663.5	37	c.2934T>G	CCDS3949.1																																																																																				0.453	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		26	85	0	0	0	1	0	26	85				
PKHD1	5314	broad.mit.edu	37	6	51774158	51774158	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr6:51774158T>C	ENST00000371117.3	-	40	6880	c.6605A>G	c.(6604-6606)aAg>aGg	p.K2202R	PKHD1_ENST00000340994.4_Missense_Mutation_p.K2202R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2202					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTGCACTCCCTTCAACTGGAC	0.532																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(6604-6606)aAg>aGg		polycystic kidney and hepatic disease 1 (autosomal recessive)							197.0	186.0	190.0					6																	51774158		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51774158T>C	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.6605A>G	6.37:g.51774158T>C	ENSP00000360158:p.Lys2202Arg					PKHD1_ENST00000340994.4_Missense_Mutation_p.K2202R	p.K2202R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			40	6880	-	Lung NSC(77;0.0605)		2202					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.6605A>G	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	.	12.24	1.878662	0.33162	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.92348	-3.02;-3.02	5.8	2.17	0.27698	.	1.083200	0.06958	N	0.815890	T	0.71558	0.3354	N	0.14661	0.345	0.24444	N	0.99451	B;B;B	0.13145	0.001;0.007;0.001	B;B;B	0.13407	0.002;0.009;0.002	T	0.61013	-0.7148	10	0.33940	T	0.23	.	7.7648	0.28974	0.0:0.2321:0.0:0.7679	.	2202;2202;2202	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	R	2202	ENSP00000360158:K2202R;ENSP00000341097:K2202R	ENSP00000341097:K2202R	K	-	2	0	PKHD1	51882117	0.106000	0.21978	0.994000	0.49952	0.733000	0.41908	1.337000	0.33862	0.139000	0.18822	0.460000	0.39030	AAG		0.532	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		3	185	0	0	0	1	0	3	185				
FLG	2312	broad.mit.edu	37	1	152282808	152282808	+	Silent	SNP	A	A	G			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr1:152282808A>G	ENST00000368799.1	-	3	4589	c.4554T>C	c.(4552-4554)caT>caC	p.H1518H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1518	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGGCTGTGATGGTACCCTG	0.562									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(4552-4554)caT>caC		filaggrin							320.0	306.0	311.0					1																	152282808		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282808A>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4554T>C	1.37:g.152282808A>G						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.H1518H	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4589	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1518			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.4554T>C	CCDS30860.1																																																																																				0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		62	383	0	0	0	1	0	62	383				
SPZ1	84654	broad.mit.edu	37	5	79616605	79616605	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr5:79616605C>G	ENST00000296739.4	+	1	816	c.571C>G	c.(571-573)Cag>Gag	p.Q191E		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	191	Basic motif. {ECO:0000255}.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		AAAGAAACAGCAGATGATAAT	0.353																																						ENST00000296739.4																			0				endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26						c.(571-573)Cag>Gag		spermatogenic leucine zipper 1							80.0	73.0	75.0					5																	79616605		1823	4086	5909	SO:0001583	missense	84654				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr5:79616605C>G		CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 148"""					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.571C>G	5.37:g.79616605C>G	ENSP00000369611:p.Gln191Glu						p.Q191E	NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)	1	816	+		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)	191					B2RA21|Q8N4P1|Q8N7E9	Missense_Mutation	SNP	ENST00000296739.4	37	c.571C>G	CCDS43336.1	.	.	.	.	.	.	.	.	.	.	G	0.445	-0.896756	0.02472	.	.	ENSG00000164299	ENST00000511881;ENST00000296739	T;T	0.37235	1.21;1.75	3.72	1.88	0.25563	.	0.620126	0.14328	N	0.326540	T	0.09862	0.0242	N	0.01493	-0.835	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.35276	-0.9795	10	0.02654	T	1	-1.396	4.8081	0.13329	0.2072:0.3907:0.4021:0.0	.	191	Q9BXG8	SPZ1_HUMAN	E	191	ENSP00000426530:Q191E;ENSP00000369611:Q191E	ENSP00000369611:Q191E	Q	+	1	0	SPZ1	79652361	0.003000	0.15002	0.011000	0.14972	0.387000	0.30353	0.012000	0.13287	0.186000	0.20125	-0.319000	0.08680	CAG		0.353	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1	NM_032567		3	66	0	0	0	1	0	3	66				
HEATR1	55127	broad.mit.edu	37	1	236749185	236749185	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr1:236749185G>T	ENST00000366582.3	-	16	2098	c.1984C>A	c.(1984-1986)Cag>Aag	p.Q662K	HEATR1_ENST00000366581.2_Missense_Mutation_p.Q662K	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	662					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ATCATCTTCTGATTTGCTACA	0.363																																						ENST00000366582.3																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(1984-1986)Cag>Aag		HEAT repeat containing 1							106.0	98.0	101.0					1																	236749185		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236749185G>T	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.1984C>A	1.37:g.236749185G>T	ENSP00000355541:p.Gln662Lys					HEATR1_ENST00000366581.2_Missense_Mutation_p.Q662K	p.Q662K	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		16	2098	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	662					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.1984C>A	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.374420	0.24857	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.64803	-0.12;0.91	5.76	2.7	0.31948	Armadillo-type fold (1);	0.402163	0.28589	N	0.014820	T	0.48132	0.1483	L	0.39898	1.24	0.58432	D	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.31724	-0.9933	10	0.20519	T	0.43	.	9.7761	0.40621	0.0:0.277:0.3145:0.4085	.	662	Q9H583	HEAT1_HUMAN	K	662	ENSP00000355541:Q662K;ENSP00000355540:Q662K	ENSP00000355540:Q662K	Q	-	1	0	HEATR1	234815808	0.980000	0.34600	1.000000	0.80357	0.783000	0.44284	-0.015000	0.12634	0.751000	0.32900	-0.230000	0.12252	CAG		0.363	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		3	43	1	0	1	1	1	3	43				
ACTC1	70	broad.mit.edu	37	15	35085746	35085746	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr15:35085746T>G	ENST00000290378.4	-	3	809	c.154A>C	c.(154-156)Aag>Cag	p.K52Q	ACTC1_ENST00000557860.1_5'Flank|RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	52					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TAGGAGTCCTTCTGACCCATA	0.453																																						ENST00000290378.4																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31						c.(154-156)Aag>Cag		actin, alpha, cardiac muscle 1							56.0	47.0	50.0					15																	35085746		2201	4298	6499	SO:0001583	missense	70				apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding	g.chr15:35085746T>G	BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"""actin, alpha, cardiac muscle"""	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.154A>C	15.37:g.35085746T>G	ENSP00000290378:p.Lys52Gln					RP11-814P5.1_ENST00000503496.1_RNA	p.K52Q	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	3	809	-		all_lung(180;2.3e-08)	52					P04270	Missense_Mutation	SNP	ENST00000290378.4	37	c.154A>C	CCDS10041.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.046696	0.75846	.	.	ENSG00000159251	ENST00000290378;ENST00000544062	D	0.92299	-3.01	5.49	5.49	0.81192	.	0.000000	0.56097	U	0.000039	D	0.96744	0.8937	M	0.89968	3.075	0.58432	D	0.999998	B	0.29552	0.248	P	0.53313	0.723	D	0.96772	0.9569	10	0.87932	D	0	.	15.888	0.79269	0.0:0.0:0.0:1.0	.	52	P68032	ACTC_HUMAN	Q	52	ENSP00000290378:K52Q	ENSP00000290378:K52Q	K	-	1	0	ACTC1	32873038	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.040000	0.89188	2.216000	0.71823	0.459000	0.35465	AAG		0.453	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251876.3	NM_005159		5	27	0	0	0	1	0	5	27				
DOPEY2	9980	broad.mit.edu	37	21	37617884	37617884	+	Silent	SNP	C	C	T	rs112487012		TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr21:37617884C>T	ENST00000399151.3	+	19	3691	c.3606C>T	c.(3604-3606)ctC>ctT	p.L1202L		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1202					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ACTTGGAGCTCCAGGCCCTCA	0.622																																						ENST00000399151.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(3604-3606)ctC>ctT		dopey family member 2							45.0	41.0	42.0					21																	37617884		2203	4300	6503	SO:0001819	synonymous_variant	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37617884C>T	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.3606C>T	21.37:g.37617884C>T							p.L1202L	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN			19	3691	+			1202					D3DSG5|Q6PJQ7|Q9UEZ3	Silent	SNP	ENST00000399151.3	37	c.3606C>T	CCDS13643.1																																																																																				0.622	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		4	35	0	0	0	1	0	4	35				
RP11-156P1.2	0	broad.mit.edu	37	17	45127107	45127107	+	IGR	SNP	C	C	G	rs374963948		TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr17:45127107C>G	ENST00000571841.1	+	0	889				LRRC37A17P_ENST00000570478.1_RNA|RP11-156P1.3_ENST00000575173.1_RNA																							CCTTCGTTCACCCAAGAGCAT	0.592																																						ENST00000575173.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:45127107C>G																													17.37:g.45127107C>G														0	418	-									RNA	SNP	ENST00000571841.1	37																																																																																						0.592	RP11-156P1.2-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000440447.1			4	92	0	0	0	1	0	4	92				
DENND5B	160518	broad.mit.edu	37	12	31586051	31586051	+	Intron	SNP	G	G	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr12:31586051G>A	ENST00000389082.5	-	8	2371				DENND5B_ENST00000536562.1_Intron|DENND5B_ENST00000306833.6_Intron|DENND5B_ENST00000354285.4_Missense_Mutation_p.A737V	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B						positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AGTTCATGGCGCTTGCTGTGA	0.433																																						ENST00000354285.4																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(2209-2211)gCg>gTg		DENN/MADD domain containing 5B							107.0	110.0	109.0					12																	31586051		2080	4220	6300	SO:0001627	intron_variant	160518					integral to membrane		g.chr12:31586051G>A	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.2106+37C>T	12.37:g.31586051G>A						DENND5B_ENST00000389082.5_Intron|DENND5B_ENST00000536562.1_Intron|DENND5B_ENST00000306833.6_Intron	p.A737V			Q6ZUT9	DEN5B_HUMAN			9	2389	-			0					B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	c.2210C>T	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	G	0.036	-1.307502	0.01342	.	.	ENSG00000170456	ENST00000354285	T	0.06687	3.27	4.26	-1.75	0.08031	.	.	.	.	.	T	0.05364	0.0142	.	.	.	0.09310	N	1	B	0.20052	0.041	B	0.12156	0.007	T	0.39800	-0.9596	8	0.87932	D	0	.	2.5295	0.04699	0.2282:0.0724:0.3526:0.3468	.	737	Q6ZUT9-4	.	V	737	ENSP00000346238:A737V	ENSP00000346238:A737V	A	-	2	0	DENND5B	31477318	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.957000	0.03861	-0.426000	0.07360	-2.269000	0.00276	GCG		0.433	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		3	77	0	0	0	1	0	3	77				
CPN1	1369	broad.mit.edu	37	10	101835675	101835675	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr10:101835675G>A	ENST00000370418.3	-	2	664	c.413C>T	c.(412-414)gCt>gTt	p.A138V		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	138	Catalytic.				response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		TACCTGGGCAGCAGCCACCTC	0.567																																						ENST00000370418.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33						c.(412-414)gCt>gTt		carboxypeptidase N, polypeptide 1							79.0	71.0	74.0					10																	101835675		2203	4300	6503	SO:0001583	missense	1369				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:101835675G>A	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"""anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""kininase I"", ""lysine carboxypeptidase"""	603103	"""carboxypeptidase N, polypeptide 1, 50kD"""			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.413C>T	10.37:g.101835675G>A	ENSP00000359446:p.Ala138Val						p.A138V	NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)	2	664	-		Colorectal(252;0.234)	138			Catalytic.		B1AP59	Missense_Mutation	SNP	ENST00000370418.3	37	c.413C>T	CCDS7486.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090539	0.36855	.	.	ENSG00000120054	ENST00000370418	T	0.03212	4.01	5.74	4.84	0.62591	Peptidase M14, carboxypeptidase A (2);	0.045796	0.85682	N	0.000000	T	0.05960	0.0155	L	0.55103	1.725	0.80722	D	1	B	0.20459	0.045	B	0.27076	0.076	T	0.30001	-0.9993	10	0.16896	T	0.51	-42.0918	14.9114	0.70761	0.0689:0.0:0.9311:0.0	.	138	P15169	CBPN_HUMAN	V	138	ENSP00000359446:A138V	ENSP00000359446:A138V	A	-	2	0	CPN1	101825665	1.000000	0.71417	0.048000	0.18961	0.022000	0.10575	7.656000	0.83736	1.440000	0.47531	0.655000	0.94253	GCT		0.567	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308		3	48	0	0	0	1	0	3	48				
DPY19L2	283417	broad.mit.edu	37	12	64041106	64041106	+	Missense_Mutation	SNP	T	T	C	rs200602630		TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr12:64041106T>C	ENST00000324472.4	-	5	811	c.628A>G	c.(628-630)Atg>Gtg	p.M210V	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	210					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AATAAATTCATTATTCCCATG	0.318																																						ENST00000324472.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(628-630)Atg>Gtg		dpy-19-like 2 (C. elegans)							64.0	68.0	67.0					12																	64041106		2203	4298	6501	SO:0001583	missense	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:64041106T>C		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.628A>G	12.37:g.64041106T>C	ENSP00000315988:p.Met210Val					RP11-415I12.3_ENST00000509615.2_RNA	p.M210V	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	5	811	-			210					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	c.628A>G	CCDS31851.1	137	0.06272893772893773	57	0.11585365853658537	8	0.022099447513812154	55	0.09615384615384616	17	0.022427440633245383	T	2.494	-0.316745	0.05386	.	.	ENSG00000177990	ENST00000324472	T	0.54479	0.57	2.35	1.07	0.20283	.	0.097071	0.64402	U	0.000002	T	0.00440	0.0014	.	.	.	0.80722	D	1	B	0.24258	0.1	B	0.22152	0.038	T	0.04373	-1.0956	8	.	.	.	.	4.6287	0.12491	0.2818:0.0:0.0:0.7182	.	210	Q6NUT2	D19L2_HUMAN	V	210	ENSP00000315988:M210V	.	M	-	1	0	DPY19L2	62327373	1.000000	0.71417	0.995000	0.50966	0.654000	0.38779	3.307000	0.51888	0.118000	0.18165	0.155000	0.16302	ATG		0.318	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		4	110	0	0	0	1	0	4	110				
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	SNORD51_ENST00000384320.2_RNA|NDUFS1_ENST00000432169.1_5'Flank|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000455934.2_5'Flank|EEF1B2_ENST00000236957.5_Silent_p.P45P|SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000233190.6_5'Flank|NDUFS1_ENST00000449699.1_5'Flank|EEF1B2_ENST00000392221.1_Silent_p.P45P|NDUFS1_ENST00000423725.1_5'Flank|NDUFS1_ENST00000440274.1_5'Flank	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448																																						ENST00000392222.2																			5	Substitution - coding silent(5)	p.P45P(5)	kidney(2)|endometrium(2)|lung(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(133-135)ccG>ccA		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025366		2203	4300	6503	SO:0001819	synonymous_variant	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025366G>A	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.135G>A	2.37:g.207025366G>A						EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P	p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN			2	510	+			45			GST C-terminal.		A8K795|Q6IBH9	Silent	SNP	ENST00000392222.2	37	c.135G>A	CCDS2367.1																																																																																				0.448	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		5	93	0	0	0	1	0	5	93				
FSCN3	29999	broad.mit.edu	37	7	127235557	127235557	+	Missense_Mutation	SNP	G	G	A	rs199821862	byFrequency	TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr7:127235557G>A	ENST00000265825.5	+	2	560	c.341G>A	c.(340-342)cGt>cAt	p.R114H	GCC1_ENST00000497650.1_5'Flank|FSCN3_ENST00000420086.2_5'UTR	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	114						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R114H(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						ATCTCTGGTCGTTATTTGGAG	0.567													G|||	7	0.00139776	0.0	0.0014	5008	,	,		19077	0.0		0.0	False		,,,				2504	0.0061					ENST00000265825.5																			1	Substitution - Missense(1)	p.R114H(1)	ovary(1)	endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(340-342)cGt>cAt		fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)		G	HIS/ARG	0,4406		0,0,2203	153.0	114.0	127.0		341	3.8	0.8	7		127	1,8599	1.2+/-3.3	0,1,4299	no	missense	FSCN3	NM_020369.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	114/499	127235557	1,13005	2203	4300	6503	SO:0001583	missense	29999					actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	g.chr7:127235557G>A		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"""Fascins"""	3961	protein-coding gene	gene with protein product		615800	"""fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)"", ""fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"""			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.341G>A	7.37:g.127235557G>A	ENSP00000265825:p.Arg114His					FSCN3_ENST00000420086.2_5'UTR	p.R114H	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN			2	560	+			114					A4D0Z2|A6NLL7|B2RA62|B4DU68	Missense_Mutation	SNP	ENST00000265825.5	37	c.341G>A	CCDS34746.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402665	0.42613	0.0	1.16E-4	ENSG00000106328	ENST00000265825	T	0.25250	1.81	5.58	3.76	0.43208	Fascin domain (1);Actin cross-linking (1);	0.293319	0.30302	N	0.009931	T	0.14570	0.0352	N	0.17474	0.49	0.80722	D	1	B	0.19583	0.037	B	0.12837	0.008	T	0.06570	-1.0819	10	0.35671	T	0.21	-35.605	9.0638	0.36451	0.1759:0.0:0.8241:0.0	.	114	Q9NQT6	FSCN3_HUMAN	H	114	ENSP00000265825:R114H	ENSP00000265825:R114H	R	+	2	0	FSCN3	127022793	0.053000	0.20554	0.833000	0.33012	0.739000	0.42172	1.132000	0.31418	1.502000	0.48669	0.650000	0.86243	CGT		0.567	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		3	57	0	0	0	1	0	3	57				
CLEC1B	51266	broad.mit.edu	37	12	10147815	10147815	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr12:10147815G>A	ENST00000298527.6	-	5	648	c.469C>T	c.(469-471)Cgt>Tgt	p.R157C	CLEC1B_ENST00000428126.2_Missense_Mutation_p.R124C|CLEC1B_ENST00000348658.4_Missense_Mutation_p.R124C	NM_016509.3	NP_057593.3	Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	157	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|platelet formation (GO:0030220)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.R157C(1)|p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						CCGACCCAACGAATTAAATGA	0.418																																						ENST00000428126.2																			2	Substitution - Missense(1)|Unknown(1)	p.R157C(1)|p.?(1)	large_intestine(2)	NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						c.(370-372)Cgt>Tgt		C-type lectin domain family 1, member B							258.0	248.0	251.0					12																	10147815		1853	4089	5942	SO:0001583	missense	51266				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity	g.chr12:10147815G>A	AF124841	CCDS41751.1, CCDS41752.1	12p13.31	2006-04-12				ENSG00000165682		"""C-type lectin domain containing"""	24356	protein-coding gene	gene with protein product		606783				10671229, 11745369	Standard	NM_016509		Approved	CLEC2	uc001qwu.3	Q9P126		ENST00000298527.6:c.469C>T	12.37:g.10147815G>A	ENSP00000298527:p.Arg157Cys					CLEC1B_ENST00000298527.6_Missense_Mutation_p.R157C|CLEC1B_ENST00000348658.4_Missense_Mutation_p.R124C	p.R124C			Q9P126	CLC1B_HUMAN			6	639	-			157			C-type lectin.		Q6UWX7|Q8NHR6	Missense_Mutation	SNP	ENST00000298527.6	37	c.370C>T	CCDS41752.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.26|16.26	3.072111|3.072111	0.55646|0.55646	.|.	.|.	ENSG00000165682|ENSG00000165682	ENST00000398939|ENST00000398937;ENST00000428126;ENST00000298527;ENST00000348658	.|T;T;T;T	.|0.18338	.|2.22;2.22;2.22;2.22	3.83|3.83	3.83|3.83	0.44106|0.44106	.|C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.|0.000000	.|0.48767	.|D	.|0.000165	.|T	.|0.37433	.|0.1003	M|M	0.69823|0.69823	2.125|2.125	0.50632|0.50632	D|D	0.999883|0.999883	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	.|T	.|0.08953	.|-1.0697	.|10	.|0.40728	.|T	.|0.16	.|.	11.1397|11.1397	0.48396|0.48396	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|124;157	.|Q9P126-2;Q9P126	.|.;CLC1B_HUMAN	.|C	-1|64;124;157;124	.|ENSP00000381910:R64C;ENSP00000406338:R124C;ENSP00000298527:R157C;ENSP00000327169:R124C	.|ENSP00000298527:R157C	.|R	-|-	.|1	.|0	CLEC1B|CLEC1B	10039082|10039082	0.999000|0.999000	0.42202|0.42202	0.960000|0.960000	0.40013|0.40013	0.644000|0.644000	0.38419|0.38419	4.365000|4.365000	0.59486|0.59486	1.954000|1.954000	0.56735|0.56735	0.298000|0.298000	0.19748|0.19748	.|CGT		0.418	CLEC1B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399922.1	NM_016509		51	267	0	0	0	1	0	51	267				
C11orf63	79864	broad.mit.edu	37	11	122774732	122774732	+	Silent	SNP	G	G	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr11:122774732G>A	ENST00000531316.1	+	2	536	c.444G>A	c.(442-444)ccG>ccA	p.P148P	C11orf63_ENST00000307257.6_Silent_p.P148P|C11orf63_ENST00000227349.2_Silent_p.P148P			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	148					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)		AAGCGTTGCCGGAGTCCACGG	0.532																																						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.(442-444)ccG>ccA		chromosome 11 open reading frame 63							93.0	104.0	100.0					11																	122774732		2202	4299	6501	SO:0001819	synonymous_variant	79864							g.chr11:122774732G>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.444G>A	11.37:g.122774732G>A						C11orf63_ENST00000307257.6_Silent_p.P148P|C11orf63_ENST00000531316.1_Silent_p.P148P	p.P148P	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	3	741	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	148					A8K6G0|Q96GB5|Q9H5D6	Silent	SNP	ENST00000531316.1	37	c.444G>A	CCDS8438.1																																																																																				0.532	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		3	118	0	0	0	1	0	3	118				
ANKRD32	84250	broad.mit.edu	37	5	94022425	94022425	+	Splice_Site	SNP	T	T	G			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr5:94022425T>G	ENST00000265140.5	+	16	2540		c.e16+2			NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32							centrosome (GO:0005813)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		CAGAAAATGGTAAGTACCTCT	0.363																																						ENST00000265140.5																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13						c.e16+2		ankyrin repeat domain 32							88.0	88.0	88.0					5																	94022425		2203	4300	6503	SO:0001630	splice_region_variant	84250							g.chr5:94022425T>G	AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"""Ankyrin repeat domain containing"""	25408	protein-coding gene	gene with protein product			"""BRCT domain containing 1"""	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.2121+2T>G	5.37:g.94022425T>G								NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN		all cancers(79;3.88e-18)	16	2540	+		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)						B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Splice_Site	SNP	ENST00000265140.5	37		CCDS4071.2	.	.	.	.	.	.	.	.	.	.	T	20.9	4.066426	0.76187	.	.	ENSG00000133302	ENST00000265140	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7994	0.78439	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANKRD32	94048181	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	6.338000	0.72963	2.258000	0.74832	0.533000	0.62120	.		0.363	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241610.1	NM_032290	Intron	14	67	0	0	0	1	0	14	67				
WDR49	151790	broad.mit.edu	37	3	167277926	167277926	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr3:167277926C>T	ENST00000308378.3	-	5	882	c.577G>A	c.(577-579)Gca>Aca	p.A193T	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.A18T|WDR49_ENST00000453925.2_Missense_Mutation_p.A246T	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	193										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CTGATTTCTGCGTTGCCGTGG	0.453																																						ENST00000308378.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(577-579)Gca>Aca		WD repeat domain 49							166.0	150.0	156.0					3																	167277926		2203	4300	6503	SO:0001583	missense	151790							g.chr3:167277926C>T	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.577G>A	3.37:g.167277926C>T	ENSP00000311343:p.Ala193Thr					WDR49_ENST00000453925.2_Missense_Mutation_p.A246T|WDR49_ENST00000476376.1_Missense_Mutation_p.A18T|WDR49_ENST00000479765.1_Intron	p.A193T	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN			5	882	-			193					Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	c.577G>A	CCDS3201.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.777350	0.31411	.	.	ENSG00000174776	ENST00000308378;ENST00000476376;ENST00000453925;ENST00000466760	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	4.94	4.07	0.47477	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.327549	0.32314	N	0.006267	T	0.60157	0.2247	L	0.38953	1.18	0.25142	N	0.990495	D;D	0.89917	1.0;0.994	D;P	0.67103	0.949;0.797	T	0.49234	-0.8961	10	0.29301	T	0.29	.	7.6979	0.28606	0.1617:0.7533:0.0:0.085	.	246;193	E7EQK3;Q8IV35	.;WDR49_HUMAN	T	193;18;246;86	ENSP00000311343:A193T;ENSP00000420508:A18T;ENSP00000410863:A246T;ENSP00000418718:A86T	ENSP00000311343:A193T	A	-	1	0	WDR49	168760620	0.984000	0.35163	0.997000	0.53966	0.447000	0.32167	2.497000	0.45354	1.218000	0.43458	-0.229000	0.12294	GCA		0.453	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		18	96	0	0	0	1	0	18	96				
CSRNP3	80034	broad.mit.edu	37	2	166514412	166514412	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr2:166514412G>A	ENST00000342316.4	+	3	562	c.290G>A	c.(289-291)cGc>cAc	p.R97H	CSRNP3_ENST00000314499.7_Missense_Mutation_p.R97H|CSRNP3_ENST00000409420.1_Missense_Mutation_p.R129H	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	97					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R97H(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						ATGTCCAGCCGCCATAACAGC	0.547																																						ENST00000314499.7																			1	Substitution - Missense(1)	p.R97H(1)	ovary(1)	breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						c.(289-291)cGc>cAc		cysteine-serine-rich nuclear protein 3							55.0	48.0	50.0					2																	166514412		2203	4300	6503	SO:0001583	missense	80034				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:166514412G>A	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.290G>A	2.37:g.166514412G>A	ENSP00000344042:p.Arg97His					CSRNP3_ENST00000342316.4_Missense_Mutation_p.R97H|CSRNP3_ENST00000409420.1_Missense_Mutation_p.R129H	p.R97H	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN			5	666	+			97					B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP	ENST00000342316.4	37	c.290G>A	CCDS2225.1	.	.	.	.	.	.	.	.	.	.	G	33	5.276723	0.95459	.	.	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000409664;ENST00000342316;ENST00000409420	T;T;T;T;T	0.15256	2.44;2.44;2.44;2.44;2.44	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.28499	0.0705	N	0.16790	0.44	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.08785	-1.0705	10	0.40728	T	0.16	-18.4594	19.2061	0.93730	0.0:0.0:1.0:0.0	.	97	Q8WYN3	CSRN3_HUMAN	H	97;104;97;97;97;129	ENSP00000412081:R97H;ENSP00000318258:R97H;ENSP00000386278:R97H;ENSP00000344042:R97H;ENSP00000387195:R129H	ENSP00000318258:R97H	R	+	2	0	CSRNP3	166222658	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.620000	0.74224	2.604000	0.88044	0.563000	0.77884	CGC		0.547	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969		3	46	0	0	0	1	0	3	46				
HIST1H4B	8366	broad.mit.edu	37	6	26027359	26027359	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr6:26027359C>T	ENST00000377364.3	-	1	121	c.122G>A	c.(121-123)cGt>cAt	p.R41H		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	41					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						AACCCCACCACGCCTAGCAAG	0.552																																						ENST00000377364.3																			0				large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						c.(121-123)cGt>cAt		histone cluster 1, H4b							70.0	63.0	65.0					6																	26027359		2203	4300	6503	SO:0001583	missense	8366				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26027359C>T	X67081	CCDS4572.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124529	ENSG00000278705		"""Histones / Replication-dependent"""	4789	protein-coding gene	gene with protein product		602829	"""H4 histone family, member I"", ""histone 1, H4b"""	H4FI		9119399, 12408966	Standard	NM_003544		Approved	H4/I	uc003nfr.3	P62805	OTTHUMG00000014417	ENST00000377364.3:c.122G>A	6.37:g.26027359C>T	ENSP00000366581:p.Arg41His						p.R41H	NM_003544.2	NP_003535.1	P62805	H4_HUMAN			1	121	-			41					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000377364.3	37	c.122G>A	CCDS4572.1	.	.	.	.	.	.	.	.	.	.	c	19.82	3.898576	0.72639	.	.	ENSG00000124529	ENST00000377364	T	0.68903	-0.36	4.65	4.65	0.58169	.	0.000000	0.50627	U	0.000107	T	0.74869	0.3773	.	.	.	0.42809	D	0.993954	.	.	.	.	.	.	T	0.77648	-0.2509	7	0.59425	D	0.04	.	17.4106	0.87484	0.0:1.0:0.0:0.0	.	.	.	.	H	41	ENSP00000366581:R41H	ENSP00000366581:R41H	R	-	2	0	HIST1H4B	26135338	1.000000	0.71417	0.017000	0.16124	0.002000	0.02628	7.416000	0.80143	2.506000	0.84524	0.563000	0.77884	CGT		0.552	HIST1H4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040079.2	NM_003544		4	62	0	0	0	1	0	4	62				
ZNF780A	284323	broad.mit.edu	37	19	40580552	40580552	+	Missense_Mutation	SNP	T	T	G	rs200594600		TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr19:40580552T>G	ENST00000595687.2	-	6	2006	c.1797A>C	c.(1795-1797)caA>caC	p.Q599H	AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000450241.2_Missense_Mutation_p.Q565H|ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q599H|ZNF780A_ENST00000414720.2_Intron	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	599					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTCGAATAAGTTGCATATGAA	0.403																																						ENST00000450241.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(1693-1695)caA>caC		zinc finger protein 780A							144.0	142.0	143.0					19																	40580552		2203	4300	6503	SO:0001583	missense	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40580552T>G	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1797A>C	19.37:g.40580552T>G	ENSP00000472189:p.Gln599His					ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000595687.2_Missense_Mutation_p.Q599H|ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q599H|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q600H	p.Q565H			O75290	Z780A_HUMAN			6	2006	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		599					E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	c.1695A>C	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	t	9.527	1.109847	0.20714	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.27402	1.67;1.67	1.93	-1.27	0.09347	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19208	0.0461	N	0.02674	-0.535	0.09310	N	1	B;D	0.69078	0.387;0.997	B;D	0.65684	0.312;0.937	T	0.17715	-1.0360	9	0.08599	T	0.76	.	6.7369	0.23415	0.0:0.0:0.4738:0.5262	.	600;599	E9PB48;O75290	.;Z780A_HUMAN	H	599;600;599	ENSP00000400997:Q600H;ENSP00000341507:Q599H	ENSP00000341507:Q599H	Q	-	3	2	ZNF780A	45272392	0.000000	0.05858	0.004000	0.12327	0.653000	0.38743	-2.502000	0.00965	-0.004000	0.14419	0.260000	0.18958	CAA		0.403	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		3	148	0	0	0	1	0	3	148				
DNAH8	1769	broad.mit.edu	37	6	38810577	38810577	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr6:38810577A>T	ENST00000359357.3	+	33	4346	c.4092A>T	c.(4090-4092)agA>agT	p.R1364S	DNAH8_ENST00000441566.1_Missense_Mutation_p.R1364S|DNAH8_ENST00000449981.2_Missense_Mutation_p.R1581S			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1364					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACTGGGATAGAATCTCCGAGT	0.383																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(4090-4092)agA>agT		dynein, axonemal, heavy chain 8							131.0	121.0	124.0					6																	38810577		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38810577A>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.4092A>T	6.37:g.38810577A>T	ENSP00000352312:p.Arg1364Ser					DNAH8_ENST00000449981.2_Missense_Mutation_p.R1581S|DNAH8_ENST00000441566.1_Missense_Mutation_p.R1364S	p.R1364S							33	4346	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.4092A>T		.	.	.	.	.	.	.	.	.	.	A	19.27	3.796066	0.70567	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.60424	0.19;0.19;0.19	5.12	-4.71	0.03279	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	T	0.56247	0.1972	M	0.86573	2.825	0.53688	D	0.999972	D	0.63046	0.992	D	0.66351	0.943	T	0.60161	-0.7317	10	0.54805	T	0.06	.	1.8564	0.03180	0.2135:0.4002:0.1576:0.2286	.	1364	Q96JB1	DYH8_HUMAN	S	1569;1569;1364;1364	ENSP00000333363:R1569S;ENSP00000352312:R1364S;ENSP00000402294:R1364S	ENSP00000333363:R1569S	R	+	3	2	DNAH8	38918555	0.020000	0.18652	0.987000	0.45799	0.912000	0.54170	-1.054000	0.03496	-0.555000	0.06142	0.455000	0.32223	AGA		0.383	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		24	99	0	0	0	1	0	24	99				
ABCE1	6059	broad.mit.edu	37	4	146032204	146032204	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr4:146032204A>C	ENST00000296577.4	+	8	1213	c.698A>C	c.(697-699)cAg>cCg	p.Q233P	ABCE1_ENST00000502803.1_Intron|OTUD4_ENST00000455611.2_5'UTR	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	233	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				negative regulation of catalytic activity (GO:0043086)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|iron-sulfur cluster binding (GO:0051536)|ribonuclease inhibitor activity (GO:0008428)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					GTTTGCATACAGAAAGCTGAT	0.363																																						ENST00000296577.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18						c.(697-699)cAg>cCg		ATP-binding cassette, sub-family E (OABP), member 1							137.0	122.0	127.0					4																	146032204		2203	4300	6503	SO:0001583	missense	6059				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity	g.chr4:146032204A>C	X74987	CCDS34071.1	4q31	2012-03-14			ENSG00000164163	ENSG00000164163		"""ATP binding cassette transporters / subfamily E"""	69	protein-coding gene	gene with protein product		601213		RNASEL1, RNASELI, RNS4I		7539425	Standard	NM_002940		Approved	RLI, OABP	uc003ijy.3	P61221	OTTHUMG00000161478	ENST00000296577.4:c.698A>C	4.37:g.146032204A>C	ENSP00000296577:p.Gln233Pro					ABCE1_ENST00000502803.1_Intron|OTUD4_ENST00000455611.2_5'UTR	p.Q233P	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN			8	1213	+	all_hematologic(180;0.151)		233			ABC transporter 1.		O88793|Q13181|Q13864|Q6NR76|Q96AL0|Q96B10|Q99K66	Missense_Mutation	SNP	ENST00000296577.4	37	c.698A>C	CCDS34071.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.668761	0.88348	.	.	ENSG00000164163	ENST00000296577	D	0.85171	-1.95	5.45	5.45	0.79879	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.91771	0.7397	M	0.79614	2.46	0.80722	D	1	D	0.56968	0.978	D	0.65573	0.936	D	0.92738	0.6205	10	0.72032	D	0.01	-16.2547	15.8133	0.78581	1.0:0.0:0.0:0.0	.	233	P61221	ABCE1_HUMAN	P	233	ENSP00000296577:Q233P	ENSP00000296577:Q233P	Q	+	2	0	ABCE1	146251654	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.330000	0.96422	2.190000	0.69967	0.482000	0.46254	CAG		0.363	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365104.1	NM_002940		6	69	0	0	0	1	0	6	69				
PTPRF	5792	broad.mit.edu	37	1	44071948	44071948	+	Missense_Mutation	SNP	G	G	A	rs377569778	byFrequency	TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr1:44071948G>A	ENST00000359947.4	+	20	3861	c.3521G>A	c.(3520-3522)cGg>cAg	p.R1174Q	PTPRF_ENST00000422171.2_Missense_Mutation_p.R522Q|PTPRF_ENST00000438120.1_Missense_Mutation_p.R1165Q|PTPRF_ENST00000372413.3_Missense_Mutation_p.R1165Q|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Missense_Mutation_p.R1174Q	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1174					cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGGAGCAGCGGCGGCGGCGG	0.632													G|||	2	0.000399361	0.0015	0.0	5008	,	,		15712	0.0		0.0	False		,,,				2504	0.0					ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(3520-3522)cGg>cAg		protein tyrosine phosphatase, receptor type, F		G	GLN/ARG,GLN/ARG	1,4363		0,1,2181	41.0	52.0	48.0		3521,3494	2.1	1.0	1		48	1,8519		0,1,4259	no	missense,missense	PTPRF	NM_002840.3,NM_130440.2	43,43	0,2,6440	AA,AG,GG		0.0117,0.0229,0.0155	benign,benign	1174/1908,1165/1899	44071948	2,12882	2182	4260	6442	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44071948G>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3521G>A	1.37:g.44071948G>A	ENSP00000353030:p.Arg1174Gln					PTPRF_ENST00000372413.3_Missense_Mutation_p.R1165Q|PTPRF_ENST00000372414.3_Missense_Mutation_p.R1174Q|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.R522Q|PTPRF_ENST00000438120.1_Missense_Mutation_p.R1165Q	p.R1174Q	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			20	3861	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1174					D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.3521G>A	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.74|15.74	2.921439|2.921439	0.52653|0.52653	2.29E-4|2.29E-4	1.17E-4|1.17E-4	ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407	.|T;T;T;T;T;T	.|0.56275	.|0.47;0.5;0.47;0.5;2.43;4.11	5.2|5.2	2.08|2.08	0.27032|0.27032	.|.	.|0.281004	.|0.18882	.|N	.|0.128559	T|T	0.37348|0.37348	0.1000|0.1000	L|L	0.44542|0.44542	1.39|1.39	0.45415|0.45415	D|D	0.998395|0.998395	.|P;B;B;D;D	.|0.56521	.|0.782;0.051;0.218;0.976;0.963	.|B;B;B;B;B	.|0.41619	.|0.203;0.014;0.063;0.32;0.361	T|T	0.15549|0.15549	-1.0433|-1.0433	5|10	.|0.15952	.|T	.|0.53	.|.	7.092|7.092	0.25289|0.25289	0.0705:0.1205:0.6755:0.1334|0.0705:0.1205:0.6755:0.1334	.|.	.|819;522;740;1165;1174	.|Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586	.|.;.;.;.;PTPRF_HUMAN	S|Q	820|1174;1165;1174;1165;522;235	.|ENSP00000353030:R1174Q;ENSP00000398822:R1165Q;ENSP00000361491:R1174Q;ENSP00000361490:R1165Q;ENSP00000387885:R522Q;ENSP00000361484:R235Q	.|ENSP00000353030:R1174Q	G|R	+|+	1|2	0|0	PTPRF|PTPRF	43844535|43844535	0.983000|0.983000	0.35010|0.35010	0.985000|0.985000	0.45067|0.45067	0.858000|0.858000	0.48976|0.48976	0.421000|0.421000	0.21280|0.21280	0.684000|0.684000	0.31448|0.31448	0.561000|0.561000	0.74099|0.74099	GGC|CGG		0.632	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			4	92	0	0	0	1	0	4	92				
HTR2C	3358	broad.mit.edu	37	X	113965800	113965800	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chrX:113965800C>T	ENST00000276198.1	+	4	861	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C	HTR2C_ENST00000371950.3_Missense_Mutation_p.R45C|HTR2C_ENST00000371951.1_Missense_Mutation_p.R45C	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	45					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CGATGGTGGACGCTTCAAATT	0.443																																						ENST00000276198.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(133-135)Cgc>Tgc		5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)						139.0	125.0	130.0					X																	113965800		2203	4300	6503	SO:0001583	missense	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:113965800C>T		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.133C>T	X.37:g.113965800C>T	ENSP00000276198:p.Arg45Cys					HTR2C_ENST00000371951.1_Missense_Mutation_p.R45C|HTR2C_ENST00000371950.3_Missense_Mutation_p.R45C	p.R45C	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN			4	861	+			45					B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	c.133C>T	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.614811	0.66672	.	.	ENSG00000147246	ENST00000276198;ENST00000371951;ENST00000371950	T;T;T	0.58652	0.32;0.32;0.61	5.03	5.03	0.67393	.	0.412917	0.23826	N	0.044184	T	0.56411	0.1983	N	0.14661	0.345	0.34802	D	0.7368	D;D	0.89917	1.0;0.985	D;B	0.66979	0.948;0.301	T	0.66806	-0.5830	10	0.54805	T	0.06	.	9.9207	0.41462	0.2026:0.7974:0.0:0.0	.	45;45	B1AMW4;P28335	.;5HT2C_HUMAN	C	45	ENSP00000276198:R45C;ENSP00000361019:R45C;ENSP00000361018:R45C	ENSP00000276198:R45C	R	+	1	0	HTR2C	113872056	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.296000	0.33389	2.466000	0.83321	0.594000	0.82650	CGC		0.443	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		25	75	0	0	0	1	0	25	75				
ELAVL2	1993	broad.mit.edu	37	9	23701423	23701423	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr9:23701423T>C	ENST00000397312.2	-	5	941	c.667A>G	c.(667-669)Aac>Gac	p.N223D	ELAVL2_ENST00000544538.1_Missense_Mutation_p.N223D|ELAVL2_ENST00000380110.4_Missense_Mutation_p.N252D|ELAVL2_ENST00000223951.6_Missense_Mutation_p.N223D|ELAVL2_ENST00000380117.1_Missense_Mutation_p.N223D	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	223					regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TACCTTCTGTTTGGAGACTGG	0.488																																						ENST00000397312.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(667-669)Aac>Gac		ELAV like neuron-specific RNA binding protein 2							296.0	290.0	292.0					9																	23701423		2203	4300	6503	SO:0001583	missense	1993				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr9:23701423T>C	BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"""RNA binding motif (RRM) containing"""	3313	protein-coding gene	gene with protein product	"""Hu antigen B"""	601673	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"""			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.667A>G	9.37:g.23701423T>C	ENSP00000380479:p.Asn223Asp					ELAVL2_ENST00000223951.6_Missense_Mutation_p.N223D|ELAVL2_ENST00000380117.1_Missense_Mutation_p.N223D|ELAVL2_ENST00000380110.4_Missense_Mutation_p.N252D|ELAVL2_ENST00000544538.1_Missense_Mutation_p.N223D	p.N223D	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN		GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)	5	941	-			223					D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Missense_Mutation	SNP	ENST00000397312.2	37	c.667A>G	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	T	16.76	3.212750	0.58452	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598;ENST00000423281	T;T;T;T;T	0.15017	2.46;2.87;2.87;2.87;3.16	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.16041	0.0386	L	0.36672	1.1	0.80722	D	1	B;B	0.19445	0.036;0.03	B;B	0.25614	0.028;0.062	T	0.08659	-1.0711	10	0.13853	T	0.58	.	16.3663	0.83325	0.0:0.0:0.0:1.0	.	223;223	Q12926;Q12926-2	ELAV2_HUMAN;.	D	223;223;223;223;223;251;88	ENSP00000223951:N223D;ENSP00000380479:N223D;ENSP00000440998:N223D;ENSP00000369460:N223D;ENSP00000391757:N88D	ENSP00000223951:N223D	N	-	1	0	ELAVL2	23691423	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.678000	0.84035	2.269000	0.75478	0.460000	0.39030	AAC		0.488	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432		32	224	0	0	0	1	0	32	224				
GPR4	2828	broad.mit.edu	37	19	46095073	46095073	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr19:46095073G>A	ENST00000323040.4	-	2	996	c.52C>T	c.(52-54)Ctc>Ttc	p.L18F	OPA3_ENST00000544371.1_Intron|GPR4_ENST00000591614.1_5'Flank	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	18					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		GGCGGAAAGAGGTGGTCCACG	0.672																																					Esophageal Squamous(117;181 1612 1673 14956 42937)	ENST00000323040.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(52-54)Ctc>Ttc		G protein-coupled receptor 4							53.0	42.0	46.0					19																	46095073		2203	4300	6503	SO:0001583	missense	2828					integral to plasma membrane	G-protein coupled receptor activity	g.chr19:46095073G>A	BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"""GPCR / Class A : Orphans"""	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.52C>T	19.37:g.46095073G>A	ENSP00000319744:p.Leu18Phe					OPA3_ENST00000544371.1_Intron	p.L18F	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)	2	996	-			18					A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	ENST00000323040.4	37	c.52C>T	CCDS12669.1	.	.	.	.	.	.	.	.	.	.	G	3.403	-0.121814	0.06838	.	.	ENSG00000177464	ENST00000323040	T	0.39056	1.1	5.11	5.11	0.69529	.	0.090651	0.44688	D	0.000427	T	0.22820	0.0551	N	0.08118	0	0.33709	D	0.615539	B	0.14012	0.009	B	0.09377	0.004	T	0.24083	-1.0170	10	0.26408	T	0.33	.	11.8559	0.52437	0.0:0.1768:0.8232:0.0	.	18	P46093	GPR4_HUMAN	F	18	ENSP00000319744:L18F	ENSP00000319744:L18F	L	-	1	0	GPR4	50786913	1.000000	0.71417	1.000000	0.80357	0.180000	0.23129	1.723000	0.38053	2.365000	0.80145	0.313000	0.20887	CTC		0.672	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1	NM_005282		10	59	0	0	0	1	0	10	59				
PHTF1	10745	broad.mit.edu	37	1	114256026	114256026	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr1:114256026T>C	ENST00000369604.1	-	8	1141	c.658A>G	c.(658-660)Act>Gct	p.T220A	PHTF1_ENST00000369598.1_Missense_Mutation_p.T175A|PHTF1_ENST00000447664.2_Intron|PHTF1_ENST00000393357.2_Missense_Mutation_p.T220A|PHTF1_ENST00000369596.2_Missense_Mutation_p.T167A|PHTF1_ENST00000357783.2_Missense_Mutation_p.T220A|PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000369600.1_Missense_Mutation_p.T167A			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	220					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCAGTTTCAGTCCCTTTGTTA	0.318																																						ENST00000369604.1																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(658-660)Act>Gct		putative homeodomain transcription factor 1							117.0	114.0	115.0					1																	114256026		2202	4300	6502	SO:0001583	missense	10745					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:114256026T>C	AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.658A>G	1.37:g.114256026T>C	ENSP00000358617:p.Thr220Ala					PHTF1_ENST00000447664.2_Intron|PHTF1_ENST00000369598.1_Missense_Mutation_p.T175A|PHTF1_ENST00000369600.1_Missense_Mutation_p.T167A|PHTF1_ENST00000369596.2_Missense_Mutation_p.T167A|PHTF1_ENST00000357783.2_Missense_Mutation_p.T220A|PHTF1_ENST00000393357.2_Missense_Mutation_p.T220A|PHTF1_ENST00000474926.1_5'UTR	p.T220A			Q9UMS5	PHTF1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	8	1141	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	220					Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Missense_Mutation	SNP	ENST00000369604.1	37	c.658A>G	CCDS861.1	.	.	.	.	.	.	.	.	.	.	T	13.15	2.152037	0.38021	.	.	ENSG00000116793	ENST00000369597;ENST00000393357;ENST00000369596;ENST00000369598;ENST00000369600;ENST00000369604;ENST00000357783	.	.	.	5.55	4.42	0.53409	.	0.393724	0.26103	N	0.026331	T	0.12603	0.0306	N	0.24115	0.695	0.22253	N	0.999254	B;B;B	0.11235	0.004;0.0;0.003	B;B;B	0.16289	0.009;0.003;0.015	T	0.06180	-1.0841	9	0.38643	T	0.18	-19.4979	8.6126	0.33811	0.0:0.1484:0.0:0.8516	.	175;220;220	F5H7M5;Q9UMS5;Q9UMS5-2	.;PHTF1_HUMAN;.	A	175;220;167;175;167;220;220	.	ENSP00000350428:T220A	T	-	1	0	PHTF1	114057549	0.947000	0.32204	0.904000	0.35570	0.941000	0.58515	1.978000	0.40598	2.120000	0.65058	0.383000	0.25322	ACT		0.318	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032666.1	NM_006608		3	24	0	0	0	1	0	3	24				
ZNF658	26149	broad.mit.edu	37	9	40773282	40773282	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr9:40773282T>C	ENST00000602553.1	-	5	2287	c.1993A>G	c.(1993-1995)Aga>Gga	p.R665G	ZNF658_ENST00000377626.3_Missense_Mutation_p.R665G|ZNF658_ENST00000441795.1_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	665					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GTGAAAGATCTCCCACATTCA	0.403																																						ENST00000602553.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46						c.(1993-1995)Aga>Gga		zinc finger protein 658							90.0	94.0	93.0					9																	40773282		2202	4295	6497	SO:0001583	missense	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40773282T>C	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.1993A>G	9.37:g.40773282T>C	ENSP00000473484:p.Arg665Gly					ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Missense_Mutation_p.R665G	p.R665G			Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	5	2287	-			665					Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Missense_Mutation	SNP	ENST00000602553.1	37	c.1993A>G	CCDS35023.1	.	.	.	.	.	.	.	.	.	.	t	12.47	1.948712	0.34377	.	.	ENSG00000196409	ENST00000377626	T	0.35236	1.32	1.98	0.758	0.18432	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43166	0.1235	M	0.80847	2.515	0.29472	N	0.856988	P	0.42123	0.771	P	0.45474	0.482	T	0.44667	-0.9313	9	0.72032	D	0.01	.	6.3074	0.21147	0.0:0.0:0.2548:0.7452	.	665	Q5TYW1	ZN658_HUMAN	G	665	ENSP00000366853:R665G	ENSP00000366853:R665G	R	-	1	2	ZNF658	40763282	0.442000	0.25633	0.001000	0.08648	0.981000	0.71138	2.862000	0.48388	0.207000	0.20607	-0.692000	0.03713	AGA		0.403	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		3	156	0	0	0	1	0	3	156				
PRAMEF11	440560	broad.mit.edu	37	1	12887686	12887686	+	Silent	SNP	T	T	C	rs59802947	byFrequency	TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr1:12887686T>C	ENST00000535591.1	-	3	366	c.171A>G	c.(169-171)agA>agG	p.R57R		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	57					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.R57R(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAAGTTTCCATCTCCTGTGGG	0.468													.|||	5	0.000998403	0.0008	0.0	5008	,	,		21622	0.001		0.0	False		,,,				2504	0.0031					ENST00000535591.1																			1	Substitution - coding silent(1)	p.R57R(1)	endometrium(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(169-171)agA>agG		PRAME family member 11																																				SO:0001819	synonymous_variant	440560							g.chr1:12887686T>C	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.171A>G	1.37:g.12887686T>C							p.R57R	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	366	-			57						Silent	SNP	ENST00000535591.1	37	c.171A>G	CCDS53268.1																																																																																				0.468	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		3	219	0	0	0	1	0	3	219				
EHHADH	1962	broad.mit.edu	37	3	184936017	184936017	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr3:184936017A>C	ENST00000231887.3	-	5	550	c.475T>G	c.(475-477)Tta>Gta	p.L159V	EHHADH_ENST00000456310.1_Missense_Mutation_p.L63V|EHHADH_ENST00000475987.1_5'UTR	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	159	Enoyl-CoA hydratase / isomerase.				fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			TCATCTGCTAAAATACGTCTT	0.378																																						ENST00000231887.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24						c.(475-477)Tta>Gta		enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	NADH(DB00157)						130.0	129.0	130.0					3																	184936017		2203	4300	6503	SO:0001583	missense	1962					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	g.chr3:184936017A>C	L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"""enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"""	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.475T>G	3.37:g.184936017A>C	ENSP00000231887:p.Leu159Val					EHHADH_ENST00000475987.1_5'UTR|EHHADH_ENST00000456310.1_Missense_Mutation_p.L63V	p.L159V	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		5	550	-	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		159			Enoyl-CoA hydratase / isomerase.		A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Missense_Mutation	SNP	ENST00000231887.3	37	c.475T>G	CCDS33901.1	.	.	.	.	.	.	.	.	.	.	A	9.971	1.225427	0.22457	.	.	ENSG00000113790	ENST00000537544;ENST00000231887;ENST00000456310	T;T	0.71817	-0.6;-0.6	5.9	2.07	0.26955	Crotonase, core (1);	0.773988	0.12360	N	0.475711	T	0.55465	0.1922	L	0.34521	1.04	0.09310	N	0.999998	B	0.25390	0.125	B	0.32090	0.14	T	0.44967	-0.9293	10	0.30078	T	0.28	2.2538	2.3708	0.04330	0.5155:0.0:0.2753:0.2091	.	159	Q08426	ECHP_HUMAN	V	159;159;63	ENSP00000231887:L159V;ENSP00000387746:L63V	ENSP00000231887:L159V	L	-	1	2	EHHADH	186418711	0.325000	0.24660	0.016000	0.15963	0.508000	0.34012	0.958000	0.29227	0.446000	0.26666	0.528000	0.53228	TTA		0.378	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			29	104	0	0	0	1	0	29	104				
LRRC66	339977	broad.mit.edu	37	4	52883592	52883592	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr4:52883592G>A	ENST00000343457.3	-	1	194	c.188C>T	c.(187-189)gCc>gTc	p.A63V		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	63						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						ATCCACAGTGGCTGCTGTCTG	0.353																																						ENST00000343457.3																			0				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						c.(187-189)gCc>gTc		leucine rich repeat containing 66							72.0	73.0	73.0					4																	52883592		1842	4095	5937	SO:0001583	missense	339977					integral to membrane		g.chr4:52883592G>A	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.188C>T	4.37:g.52883592G>A	ENSP00000341944:p.Ala63Val						p.A63V	NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN			1	194	-			63						Missense_Mutation	SNP	ENST00000343457.3	37	c.188C>T	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	G	2.261	-0.369213	0.05069	.	.	ENSG00000188993	ENST00000343457	T	0.50813	0.73	5.01	0.813	0.18749	.	0.963902	0.08539	N	0.930920	T	0.29223	0.0727	L	0.29908	0.895	0.09310	N	1	B	0.25235	0.121	B	0.17722	0.019	T	0.21655	-1.0239	10	0.18276	T	0.48	-1.844	3.6903	0.08343	0.2156:0.0:0.2709:0.5135	.	63	Q68CR7	LRC66_HUMAN	V	63	ENSP00000341944:A63V	ENSP00000341944:A63V	A	-	2	0	LRRC66	52578349	0.007000	0.16637	0.000000	0.03702	0.005000	0.04900	1.473000	0.35387	-0.065000	0.13021	-0.188000	0.12872	GCC		0.353	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		5	42	0	0	0	1	0	5	42				
CYP2W1	54905	broad.mit.edu	37	7	1024635	1024635	+	Silent	SNP	G	G	A			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr7:1024635G>A	ENST00000308919.7	+	3	400	c.387G>A	c.(385-387)acG>acA	p.T129T	CYP2W1_ENST00000340150.6_Silent_p.T73T	NM_017781.2	NP_060251.2	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	129					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GCCAGTTCACGGTGCGTGCCC	0.652																																						ENST00000340150.6																			0				breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(217-219)acG>acA		cytochrome P450, family 2, subfamily W, polypeptide 1							32.0	39.0	36.0					7																	1024635		2202	4299	6501	SO:0001819	synonymous_variant	54905				xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr7:1024635G>A	AK000366	CCDS5319.2	7p22.3	2004-07-05			ENSG00000073067	ENSG00000073067		"""Cytochrome P450s"""	20243	protein-coding gene	gene with protein product		615967					Standard	XM_005249792		Approved	FLJ20359, MGC34287	uc003sjq.1	Q8TAV3	OTTHUMG00000074071	ENST00000308919.7:c.387G>A	7.37:g.1024635G>A						CYP2W1_ENST00000308919.7_Silent_p.T129T	p.T73T			Q8TAV3	CP2W1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)	3	241	+		Ovarian(82;0.0112)	129						Silent	SNP	ENST00000308919.7	37	c.219G>A	CCDS5319.2																																																																																				0.652	CYP2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157249.1	NM_017781		9	60	0	0	0	1	0	9	60				
MUC7	4589	broad.mit.edu	37	4	71346978	71346978	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr4:71346978T>C	ENST00000304887.5	+	3	707	c.517T>C	c.(517-519)Tct>Cct	p.S173P	MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000413702.1_Missense_Mutation_p.S173P|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	173	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.S173P(3)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.522																																						ENST00000413702.1																			3	Substitution - Missense(3)	p.S173P(3)	lung(2)|kidney(1)	central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(517-519)Tct>Cct		mucin 7, secreted							341.0	284.0	303.0					4																	71346978		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71346978T>C	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.517T>C	4.37:g.71346978T>C	ENSP00000302021:p.Ser173Pro					MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR	p.S173P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	805	+			173			Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.517T>C	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	T	8.294	0.818323	0.16607	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.52754	0.65;0.65;0.65	2.59	-1.83	0.07833	.	.	.	.	.	T	0.22360	0.0539	N	0.12182	0.205	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.19451	-1.0305	8	.	.	.	-1.8981	3.858	0.08984	0.0:0.2646:0.3931:0.3423	.	173	Q8TAX7	MUC7_HUMAN	P	173	ENSP00000407422:S173P;ENSP00000400585:S173P;ENSP00000302021:S173P	.	S	+	1	0	MUC7	71381567	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.097000	0.01348	-0.350000	0.08262	-0.605000	0.04089	TCT		0.522	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		3	145	0	0	0	1	0	3	145				
MYO7B	4648	broad.mit.edu	37	2	128351136	128351136	+	Missense_Mutation	SNP	C	C	T	rs375115392		TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr2:128351136C>T	ENST00000409816.2	+	17	2193	c.2161C>T	c.(2161-2163)Cgc>Tgc	p.R721C	MYO7B_ENST00000389524.4_Missense_Mutation_p.R721C|MYO7B_ENST00000428314.1_Missense_Mutation_p.R721C			Q6PIF6	MYO7B_HUMAN	myosin VIIB	721	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AGGCAAGCTCCGCCAGATGAC	0.612																																						ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(2161-2163)Cgc>Tgc		myosin VIIB		C	CYS/ARG	0,3886		0,0,1943	76.0	84.0	81.0		2161	4.8	0.1	2		81	1,8265		0,1,4132	no	missense	MYO7B	NM_001080527.1	180	0,1,6075	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging	721/2117	128351136	1,12151	1943	4133	6076	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128351136C>T		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.2161C>T	2.37:g.128351136C>T	ENSP00000386461:p.Arg721Cys					MYO7B_ENST00000409816.2_Missense_Mutation_p.R721C|MYO7B_ENST00000428314.1_Missense_Mutation_p.R721C	p.R721C			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	18	2214	+	Colorectal(110;0.1)		721			Myosin head-like.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.2161C>T	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	C	9.908	1.208658	0.22205	0.0	1.21E-4	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	D;D;D	0.87887	-2.31;-2.31;-2.31	4.78	4.78	0.61160	Myosin head, motor domain (2);	0.166550	0.43579	D	0.000545	D	0.95188	0.8440	H	0.96662	3.86	0.24255	N	0.995306	D	0.76494	0.999	P	0.60345	0.873	D	0.90146	0.4217	10	0.72032	D	0.01	.	17.1558	0.86791	0.0:1.0:0.0:0.0	.	721	Q6PIF6	MYO7B_HUMAN	C	721	ENSP00000374175:R721C;ENSP00000415090:R721C;ENSP00000386461:R721C	ENSP00000374175:R721C	R	+	1	0	MYO7B	128067606	0.336000	0.24757	0.125000	0.21846	0.048000	0.14542	3.597000	0.54031	2.372000	0.80975	0.561000	0.74099	CGC		0.612	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		3	115	0	0	0	1	0	3	115				
ZBTB8A	653121	broad.mit.edu	37	1	33065979	33065981	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr1:33065979_33065981delGAA	ENST00000373510.4	+	5	1514_1516	c.1285_1287delGAA	c.(1285-1287)gaadel	p.E433del	ZBTB8A_ENST00000316459.4_3'UTR|ZBTB8OS_ENST00000341885.5_Intron|RP1-27O5.3_ENST00000480336.1_3'UTR	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	433	Poly-Glu.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						TGATGATAGTGAAGAAGAAGAAG	0.414																																						ENST00000373510.4																			0				cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						c.(1285-1287)del		zinc finger and BTB domain containing 8A				3,6,4257		0,0,3,0,6,2124						1.9	1.0			101	0,20,8234		0,0,0,0,20,4107	no	codingComplex	ZBTB8A	NM_001040441.1		0,0,3,0,26,6231	A1A1,A1A2,A1R,A2A2,A2R,RR		0.2423,0.211,0.2316				3,26,12491				SO:0001651	inframe_deletion	653121				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:33065979_33065981delGAA	AF548353	CCDS30664.1	1p34.3	2013-01-08	2009-03-25	2009-03-25	ENSG00000160062	ENSG00000160062		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24172	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 8"""	ZBTB8		12477932	Standard	NM_001040441		Approved	BOZF1, FLJ90065, ZNF916A	uc001bvn.3	Q96BR9	OTTHUMG00000007855	ENST00000373510.4:c.1285_1287delGAA	1.37:g.33065988_33065990delGAA	ENSP00000362609:p.Glu433del					ZBTB8OS_ENST00000341885.5_Intron|ZBTB8A_ENST00000316459.4_3'UTR|RP1-27O5.3_ENST00000480336.1_3'UTR	p.E433del	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN			5	1514_1516	+			433			Poly-Glu.		Q8IUL5|Q8IWR9|Q8N2Y5|Q96BX0	In_Frame_Del	DEL	ENST00000373510.4	37	c.1285_1287delGAA	CCDS30664.1																																																																																				0.414	ZBTB8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021665.2	NM_144621		9	101						9	101	---	---	---	---
LMX1A	4009	broad.mit.edu	37	1	165177332	165177334	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr1:165177332_165177334delTGC	ENST00000342310.3	-	7	1165_1167	c.783_785delGCA	c.(781-786)cagcaa>caa	p.261_262QQ>Q	RP11-38C18.2_ENST00000457106.1_RNA|LMX1A_ENST00000367893.4_In_Frame_Del_p.261_262QQ>Q|LMX1A_ENST00000294816.2_In_Frame_Del_p.261_262QQ>Q|LMX1A_ENST00000489443.2_5'UTR	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	261	Gln-rich.|Poly-Gln.				axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CTGCTGATCTTGCTGCTGCTGCT	0.567																																						ENST00000342310.3																			0				NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35						c.(781-786)caa>ca		LIM homeobox transcription factor 1, alpha																																				SO:0001651	inframe_deletion	4009					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:165177332_165177334delTGC	AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"""Homeoboxes / LIM class"""	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.783_785delGCA	1.37:g.165177341_165177343delTGC	ENSP00000340226:p.Gln262del					LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000294816.2_In_Frame_Del_p.QQ261del|LMX1A_ENST00000367893.4_In_Frame_Del_p.QQ261del	p.QQ261del	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN			7	1165_1167	-	all_hematologic(923;0.248)		261			Gln-rich.|Poly-Gln.		B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	In_Frame_Del	DEL	ENST00000342310.3	37	c.783_785delGCA	CCDS1247.1																																																																																				0.567	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2	NM_177398		8	57						8	57	---	---	---	---
FOXP2	93986	broad.mit.edu	37	7	114270016	114270018	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr7:114270016_114270018delCAG	ENST00000393494.2	+	5	832_834	c.553_555delCAG	c.(553-555)cagdel	p.Q191del	FOXP2_ENST00000393500.3_In_Frame_Del_p.Q116del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del			O15409	FOXP2_HUMAN	forkhead box P2	191	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q210Q(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						gcagcagcaacagcagcagcagc	0.507																																						ENST00000393500.3																			2	Substitution - coding silent(2)	p.Q210Q(2)	lung(2)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(328-330)del		forkhead box P2																																				SO:0001651	inframe_deletion	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114270016_114270018delCAG	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.553_555delCAG	7.37:g.114270025_114270027delCAG	ENSP00000377132:p.Gln191del					FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del	p.Q116del			O15409	FOXP2_HUMAN			11	1148_1150	+			191			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	In_Frame_Del	DEL	ENST00000393494.2	37	c.328_330delCAG	CCDS5760.1																																																																																				0.507	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		7	51						7	51	---	---	---	---
RP11-180I4.2	0	broad.mit.edu	37	9	98468147	98468148	+	lincRNA	INS	-	-	CAC	rs561681898|rs199576323|rs371929980|rs370440321|rs367832466		TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr9:98468147_98468148insCAC	ENST00000580326.1	+	0	189																											acaatcaccatcaccaccacca	0.574																																						ENST00000580326.1																			0																																																			0							g.chr9:98468147_98468148insCAC																													9.37:g.98468154_98468156dupCAC														0	189	+									RNA	INS	ENST00000580326.1	37																																																																																						0.574	RP11-180I4.2-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000444750.1			3	4						3	4	---	---	---	---
COL5A1	1289	broad.mit.edu	37	9	137534099	137534101	+	In_Frame_Del	DEL	GCT	GCT	-	rs13288533		TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr9:137534099_137534101delGCT	ENST00000371817.3	+	1	480_482	c.66_68delGCT	c.(64-69)ccgctg>ccg	p.L28del		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	28					axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		tgctgcccccgctgctgctgctg	0.828																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(64-69)ccg>cc		collagen, type V, alpha 1																																				SO:0001651	inframe_deletion	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137534099_137534101delGCT	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.66_68delGCT	9.37:g.137534108_137534110delGCT	ENSP00000360882:p.Leu28del						p.PL22del	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	1	480_482	+		Myeloproliferative disorder(178;0.0341)	22					Q15094|Q5SUX4	In_Frame_Del	DEL	ENST00000371817.3	37	c.66_68delGCT	CCDS6982.1																																																																																				0.828	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		2	4						2	4	---	---	---	---
MAP3K9	4293	broad.mit.edu	37	14	71275774	71275776	+	In_Frame_Del	DEL	CCT	CCT	-	rs397840789|rs201322413		TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr14:71275774_71275776delCCT	ENST00000554752.2	-	1	112_114	c.113_115delAGG	c.(112-117)gaggcg>gcg	p.E38del	RP6-65G23.3_ENST00000557691.1_lincRNA|MAP3K9_ENST00000555993.2_In_Frame_Del_p.E38del|MAP3K9_ENST00000381250.4_In_Frame_Del_p.E38del	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	38	Ala-rich.|Poly-Glu.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.E38delE(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCGCCGCCGcctcctcctcctc	0.773																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			1	Deletion - In frame(1)	p.E38delE(1)	ovary(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(112-117)gcg>g		mitogen-activated protein kinase kinase kinase 9																																				SO:0001651	inframe_deletion	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71275774_71275776delCCT	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.113_115delAGG	14.37:g.71275783_71275785delCCT	ENSP00000451612:p.Glu38del					MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del|MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del	p.EA38del			P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	1	112_114	-			38			Ala-rich.|Poly-Glu.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	In_Frame_Del	DEL	ENST00000554752.2	37	c.113_115delAGG																																																																																					0.773	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			4	4						4	4	---	---	---	---
HERC2P3	283755	broad.mit.edu	37	15	20710570	20710570	+	RNA	DEL	A	A	-			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr15:20710570delA	ENST00000428453.1	-	0	157							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TACATACCCTAAAAAAAAGCC	0.368																																						ENST00000428453.1																			0				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35																																														0							g.chr15:20710570delA	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20710570delA														0	157	-									RNA	DEL	ENST00000428453.1	37																																																																																						0.368	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		2	4						2	4	---	---	---	---
FRG1B	284802	broad.mit.edu	37	20	29625899	29625900	+	Frame_Shift_Ins	INS	-	-	AT	rs201509828		TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr20:29625899_29625900insAT	ENST00000278882.3	+	5	523_524	c.143_144insAT	c.(142-147)aaatatfs	p.KY48fs	FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.KY53fs|FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.KY48fs			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	48										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTATGGAAAATATCTTGGTA	0.342																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(142-144)atafs																																						SO:0001589	frameshift_variant	0							g.chr20:29625899_29625900insAT			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.146_147dupAT	20.37:g.29625902_29625903dupAT	ENSP00000278882:p.Lys48fs					FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.I48fs|FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.I53fs	p.I48fs							5	523_524	+								C4AME5	Frame_Shift_Ins	INS	ENST00000278882.3	37	c.143_144insAT																																																																																					0.342	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	104						7	104	---	---	---	---
PMEPA1	56937	broad.mit.edu	37	20	56227348	56227349	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr20:56227348_56227349insG	ENST00000341744.3	-	4	943_944	c.624_625insC	c.(622-627)cccagcfs	p.S209fs	PMEPA1_ENST00000265626.4_Frame_Shift_Ins_p.S159fs|PMEPA1_ENST00000347215.4_Frame_Shift_Ins_p.S174fs|PMEPA1_ENST00000395816.3_Frame_Shift_Ins_p.S159fs|PMEPA1_ENST00000395814.1_Frame_Shift_Ins_p.S159fs	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	209					androgen receptor signaling pathway (GO:0030521)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	R-SMAD binding (GO:0070412)|WW domain binding (GO:0050699)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						GAGTTACTGCTGGGGGGGCAGG	0.683																																						ENST00000341744.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						c.(622-627)ccgcagfs		prostate transmembrane protein, androgen induced 1			,,,	19,4245		0,19,2113					,,,	5.5	1.0			31	10,8236		0,10,4113	no	frameshift,frameshift,frameshift,frameshift	PMEPA1	NM_199171.1,NM_199170.1,NM_199169.1,NM_020182.3	,,,	0,29,6226	A1A1,A1R,RR		0.1213,0.4456,0.2318	,,,	,,,		29,12481				SO:0001589	frameshift_variant	56937				androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding	g.chr20:56227348_56227349insG	AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225			14107	protein-coding gene	gene with protein product	"""solid tumor-associated 1"""	606564	"""transmembrane, prostate androgen induced RNA"""	TMEPAI		10873380	Standard	NM_020182		Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.625dupC	20.37:g.56227355_56227355dupG	ENSP00000345826:p.Ser209fs					PMEPA1_ENST00000265626.4_Frame_Shift_Ins_p.Q159fs|PMEPA1_ENST00000395814.1_Frame_Shift_Ins_p.Q159fs|PMEPA1_ENST00000395816.3_Frame_Shift_Ins_p.Q159fs|PMEPA1_ENST00000347215.4_Frame_Shift_Ins_p.Q174fs	p.Q209fs	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN			4	943_944	-			209					Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Frame_Shift_Ins	INS	ENST00000341744.3	37	c.624_625insC	CCDS13463.1																																																																																				0.683	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079858.2	NM_020182		12	57						12	57	---	---	---	---
ZBTB8A	653121	broad.mit.edu	37	1	33065979	33065981	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr1:33065979_33065981delGAA	ENST00000373510.4	+	5	1514_1516	c.1285_1287delGAA	c.(1285-1287)gaadel	p.E433del	ZBTB8A_ENST00000316459.4_3'UTR|ZBTB8OS_ENST00000341885.5_Intron|RP1-27O5.3_ENST00000480336.1_3'UTR	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	433	Poly-Glu.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						TGATGATAGTGAAGAAGAAGAAG	0.414																																						ENST00000373510.4																			0				cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						c.(1285-1287)del		zinc finger and BTB domain containing 8A				3,6,4257		0,0,3,0,6,2124						1.9	1.0			101	0,20,8234		0,0,0,0,20,4107	no	codingComplex	ZBTB8A	NM_001040441.1		0,0,3,0,26,6231	A1A1,A1A2,A1R,A2A2,A2R,RR		0.2423,0.211,0.2316				3,26,12491				SO:0001651	inframe_deletion	653121				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:33065979_33065981delGAA	AF548353	CCDS30664.1	1p34.3	2013-01-08	2009-03-25	2009-03-25	ENSG00000160062	ENSG00000160062		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24172	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 8"""	ZBTB8		12477932	Standard	NM_001040441		Approved	BOZF1, FLJ90065, ZNF916A	uc001bvn.3	Q96BR9	OTTHUMG00000007855	ENST00000373510.4:c.1285_1287delGAA	1.37:g.33065988_33065990delGAA	ENSP00000362609:p.Glu433del					RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8OS_ENST00000341885.5_Intron|ZBTB8A_ENST00000316459.4_3'UTR	p.E433del	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN			5	1514_1516	+			433			Poly-Glu.		Q8IUL5|Q8IWR9|Q8N2Y5|Q96BX0	In_Frame_Del	DEL	ENST00000373510.4	37	c.1285_1287delGAA	CCDS30664.1																																																																																				0.414	ZBTB8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021665.2	NM_144621		9	101						9	101	---	---	---	---
PROM1	8842	broad.mit.edu	37	4	15995680	15995680	+	Frame_Shift_Del	DEL	T	T	-	rs376676164		TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr4:15995680delT	ENST00000510224.1	-	16	1945	c.1697delA	c.(1696-1698)aatfs	p.N566fs	PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs|PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000505450.1_Frame_Shift_Del_p.N557fs			O43490	PROM1_HUMAN	prominin 1	566					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						AGTGCCTCTATTTTTTTTGCA	0.428																																						ENST00000505450.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						c.(1669-1671)atfs		prominin 1							189.0	187.0	188.0					4																	15995680		1901	4120	6021	SO:0001589	frameshift_variant	8842				camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding	g.chr4:15995680delT	AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"""CD molecules"""	9454	protein-coding gene	gene with protein product		604365	"""prominin (mouse)-like 1"", ""macular dystrophy, retinal 2"", ""Stargardt disease 4 (autosomal dominant)"""	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.1697delA	4.37:g.15995680delT	ENSP00000426809:p.Asn566fs					PROM1_ENST00000510224.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs	p.N557fs	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN			15	2282	-			566					Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Frame_Shift_Del	DEL	ENST00000510224.1	37	c.1670delA	CCDS47029.1																																																																																				0.428	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2	NM_006017		7	99						7	99	---	---	---	---
FOXP2	93986	broad.mit.edu	37	7	114270016	114270018	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr7:114270016_114270018delCAG	ENST00000393494.2	+	5	832_834	c.553_555delCAG	c.(553-555)cagdel	p.Q191del	FOXP2_ENST00000393500.3_In_Frame_Del_p.Q116del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del			O15409	FOXP2_HUMAN	forkhead box P2	191	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q210Q(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						gcagcagcaacagcagcagcagc	0.507																																						ENST00000393500.3																			2	Substitution - coding silent(2)	p.Q210Q(2)	lung(2)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(328-330)del		forkhead box P2																																				SO:0001651	inframe_deletion	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114270016_114270018delCAG	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.553_555delCAG	7.37:g.114270025_114270027delCAG	ENSP00000377132:p.Gln191del					FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del	p.Q116del			O15409	FOXP2_HUMAN			11	1148_1150	+			191			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	In_Frame_Del	DEL	ENST00000393494.2	37	c.328_330delCAG	CCDS5760.1																																																																																				0.507	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		7	51						7	51	---	---	---	---
FAM21EP	100421577	broad.mit.edu	37	10	51814320	51814320	+	RNA	DEL	A	A	-	rs11306955|rs63143662	byFrequency	TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr10:51814320delA	ENST00000456967.1	-	0	1657					NR_038275.1																						AACTCTATTGAGAAAAACCTG	0.358													|||unknown(NO_COVERAGE)	3795	0.757788	0.3828	0.8372	5008	,	,		17665	0.9702		0.835	False		,,,				2504	0.91					ENST00000456967.1																			0																																																			0							g.chr10:51814320delA																													10.37:g.51814320delA								NR_038275.1						0	1657	-									RNA	DEL	ENST00000456967.1	37																																																																																						0.358	RP11-324H6.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000048059.1			4	4						4	4	---	---	---	---
ULK4P3	89837	broad.mit.edu	37	15	30406088	30406089	+	RNA	INS	-	-	T	rs372975149		TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr15:30406088_30406089insT	ENST00000568486.1	+	0	402				U8_ENST00000384701.1_RNA	NR_026859.1				ULK4 pseudogene 3																		TGCCTCAAAAGTTTTTTTTTTT	0.297																																						ENST00000568486.1																			0																																																			0							g.chr15:30406088_30406089insT	BC023564		15q13.2	2014-03-20	2013-09-12	2011-11-25	ENSG00000178081	ENSG00000178081			15777	pseudogene	pseudogene			"""family with sequence similarity 7, member A3"", ""unc-51-like kinase 4 (C. elegans) pseudogene 3"""	FAM7A3		11829490	Standard	NR_026859		Approved	D-X	uc001zdk.3		OTTHUMG00000175637		15.37:g.30406099_30406099dupT								NR_026859.1						0	402	+									RNA	INS	ENST00000568486.1	37																																																																																						0.297	ULK4P3-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000430688.1			3	5						3	5	---	---	---	---
RP11-178C3.1	0	broad.mit.edu	37	17	58050857	58050857	+	IGR	DEL	G	G	-	rs375748922		TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr17:58050857delG	ENST00000591035.1	+	0	481				RP11-178C3.2_ENST00000586209.1_lincRNA																							TTTTTTTTTTGGCAGTTTTTA	0.423																																						ENST00000586209.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:58050857delG																													17.37:g.58050857delG														0	158	+									RNA	DEL	ENST00000591035.1	37																																																																																						0.423	RP11-178C3.1-001	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000449157.1			3	6						3	6	---	---	---	---
OR7E24	26648	broad.mit.edu	37	19	9361740	9361741	+	Frame_Shift_Ins	INS	-	-	T	rs374077378|rs201985790		TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr19:9361740_9361741insT	ENST00000456448.1	+	1	135_136	c.21_22insT	c.(22-24)tttfs	p.F8fs		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TTCCAATTCTCTTTTTTTTTTT	0.386																																						ENST00000456448.1																			0				endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						c.(19-24)ctttttfs		olfactory receptor, family 7, subfamily E, member 24																																				SO:0001589	frameshift_variant	26648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9361740_9361741insT	Y10529	CCDS45955.1	19p13.2	2012-08-09	2004-03-04	2004-03-05		ENSG00000237521		"""GPCR / Class A : Olfactory receptors"""	8396	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily E, member 24 pseudogene"""	OR7E24P		9268701	Standard	NM_001079935		Approved	OR19-8, HSHT2, OR7E24Q	uc002mlb.1	Q6IFN5		ENST00000456448.1:c.32dupT	19.37:g.9361751_9361751dupT	ENSP00000387523:p.Phe8fs						p.LF7fs	NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN			1	135_136	+			7					B9EJD9|Q9UPJ1	Frame_Shift_Ins	INS	ENST00000456448.1	37	c.21_22insT	CCDS45955.1																																																																																				0.386	OR7E24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449006.1			3	6						3	6	---	---	---	---
PMEPA1	56937	broad.mit.edu	37	20	56227348	56227349	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr20:56227348_56227349insG	ENST00000341744.3	-	4	943_944	c.624_625insC	c.(622-627)cccagcfs	p.S209fs	PMEPA1_ENST00000265626.4_Frame_Shift_Ins_p.S159fs|PMEPA1_ENST00000347215.4_Frame_Shift_Ins_p.S174fs|PMEPA1_ENST00000395816.3_Frame_Shift_Ins_p.S159fs|PMEPA1_ENST00000395814.1_Frame_Shift_Ins_p.S159fs	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	209					androgen receptor signaling pathway (GO:0030521)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	R-SMAD binding (GO:0070412)|WW domain binding (GO:0050699)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						GAGTTACTGCTGGGGGGGCAGG	0.683																																						ENST00000341744.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						c.(622-627)ccgcagfs		prostate transmembrane protein, androgen induced 1			,,,	19,4245		0,19,2113					,,,	5.5	1.0			31	10,8236		0,10,4113	no	frameshift,frameshift,frameshift,frameshift	PMEPA1	NM_199171.1,NM_199170.1,NM_199169.1,NM_020182.3	,,,	0,29,6226	A1A1,A1R,RR		0.1213,0.4456,0.2318	,,,	,,,		29,12481				SO:0001589	frameshift_variant	56937				androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding	g.chr20:56227348_56227349insG	AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225			14107	protein-coding gene	gene with protein product	"""solid tumor-associated 1"""	606564	"""transmembrane, prostate androgen induced RNA"""	TMEPAI		10873380	Standard	NM_020182		Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.625dupC	20.37:g.56227355_56227355dupG	ENSP00000345826:p.Ser209fs					PMEPA1_ENST00000347215.4_Frame_Shift_Ins_p.Q174fs|PMEPA1_ENST00000395814.1_Frame_Shift_Ins_p.Q159fs|PMEPA1_ENST00000265626.4_Frame_Shift_Ins_p.Q159fs|PMEPA1_ENST00000395816.3_Frame_Shift_Ins_p.Q159fs	p.Q209fs	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN			4	943_944	-			209					Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Frame_Shift_Ins	INS	ENST00000341744.3	37	c.624_625insC	CCDS13463.1																																																																																				0.683	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079858.2	NM_020182		12	57						12	57	---	---	---	---
