#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
PARD3	56288	broad.mit.edu	37	10	34985316	34985316	+	Missense_Mutation	SNP	A	A	C			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr10:34985316A>C	ENST00000374789.3	-	2	477	c.152T>G	c.(151-153)tTg>tGg	p.L51W	PARD3_ENST00000374788.3_Missense_Mutation_p.L51W|PARD3_ENST00000545260.1_Missense_Mutation_p.L51W|PARD3_ENST00000340077.5_Missense_Mutation_p.L51W|PARD3_ENST00000346874.4_Missense_Mutation_p.L51W|PARD3_ENST00000374794.3_Missense_Mutation_p.L51W|PARD3_ENST00000545693.1_Missense_Mutation_p.L51W|PARD3_ENST00000374773.1_Missense_Mutation_p.L51W|PARD3_ENST00000350537.4_Missense_Mutation_p.L51W|PARD3_ENST00000374790.3_Missense_Mutation_p.L51W|PARD3_ENST00000374776.1_Missense_Mutation_p.L51W	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	51					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TCCATGTTCCAAGCGATGCAC	0.413																																						ENST00000374789.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63						c.(151-153)tTg>tGg		par-3 family cell polarity regulator							306.0	259.0	275.0					10																	34985316		2203	4300	6503	SO:0001583	missense	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34985316A>C	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.152T>G	10.37:g.34985316A>C	ENSP00000363921:p.Leu51Trp					PARD3_ENST00000374773.1_Missense_Mutation_p.L51W|PARD3_ENST00000346874.4_Missense_Mutation_p.L51W|PARD3_ENST00000374790.3_Missense_Mutation_p.L51W|PARD3_ENST00000350537.4_Missense_Mutation_p.L51W|PARD3_ENST00000545693.1_Missense_Mutation_p.L51W|PARD3_ENST00000340077.5_Missense_Mutation_p.L51W|PARD3_ENST00000374776.1_Missense_Mutation_p.L51W|PARD3_ENST00000545260.1_Missense_Mutation_p.L51W|PARD3_ENST00000374788.3_Missense_Mutation_p.L51W|PARD3_ENST00000374794.3_Missense_Mutation_p.L51W	p.L51W	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN			2	477	-		Breast(68;0.0707)	51					F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	c.152T>G	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.636228	0.87760	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773	T;T;T;T;T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000001	T	0.79476	0.4452	M	0.79123	2.44	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;0.999;1.0;1.0;1.0;0.999;1.0;1.0	T	0.82287	-0.0532	10	0.87932	D	0	.	14.8814	0.70537	1.0:0.0:0.0:0.0	.	51;51;51;51;51;51;51;51;51;51;51	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q8TEW0-8;Q8TEW0-9	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.	W	51	ENSP00000443147:L51W;ENSP00000440857:L51W;ENSP00000363921:L51W;ENSP00000363920:L51W;ENSP00000340591:L51W;ENSP00000363926:L51W;ENSP00000311986:L51W;ENSP00000363922:L51W;ENSP00000363908:L51W;ENSP00000341844:L51W;ENSP00000363905:L51W	ENSP00000341844:L51W	L	-	2	0	PARD3	35025322	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	8.775000	0.91772	2.155000	0.67459	0.528000	0.53228	TTG		0.413	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		38	239	0	0	0	0.004878	0	38	239				
OR2M3	127062	broad.mit.edu	37	1	248366655	248366655	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr1:248366655G>T	ENST00000456743.1	+	1	324	c.286G>T	c.(286-288)Ggt>Tgt	p.G96C		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TTCTATGGCTGGTTGTGCCAC	0.502																																						ENST00000456743.1																			0				endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(286-288)Ggt>Tgt		olfactory receptor, family 2, subfamily M, member 3							286.0	286.0	286.0					1																	248366655		2203	4300	6503	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366655G>T		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.286G>T	1.37:g.248366655G>T	ENSP00000389625:p.Gly96Cys						p.G96C	NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	324	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		96					B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.286G>T	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.040101	0.35989	.	.	ENSG00000228198	ENST00000456743	T	0.10005	2.92	2.44	1.49	0.22878	GPCR, rhodopsin-like superfamily (1);	0.899723	0.08975	U	0.866609	T	0.36303	0.0962	M	0.89658	3.05	0.09310	N	1	D	0.71674	0.998	D	0.67900	0.954	T	0.08493	-1.0719	10	0.87932	D	0	.	8.4808	0.33040	0.1257:0.0:0.8743:0.0	.	96	Q8NG83	OR2M3_HUMAN	C	96	ENSP00000389625:G96C	ENSP00000389625:G96C	G	+	1	0	OR2M3	246433278	0.017000	0.18338	0.003000	0.11579	0.002000	0.02628	1.867000	0.39499	0.344000	0.23847	0.405000	0.27470	GGT		0.502	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		129	310	1	0	4.83686e-69	0.003610	9.67373e-69	129	310				
RASSF2	9770	broad.mit.edu	37	20	4768882	4768882	+	Silent	SNP	G	G	A	rs559942126		TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr20:4768882G>A	ENST00000379400.3	-	9	867	c.672C>T	c.(670-672)taC>taT	p.Y224Y	RASSF2_ENST00000379376.2_Silent_p.Y224Y|RASSF2_ENST00000478553.1_5'UTR	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	224	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						TATGGACCACGTACAAGGCAA	0.383													G|||	1	0.000199681	0.0	0.0	5008	,	,		20725	0.0		0.0	False		,,,				2504	0.001				Melanoma(158;1891 3343 50738)	ENST00000379400.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						c.(670-672)taC>taT		Ras association (RalGDS/AF-6) domain family member 2							128.0	127.0	128.0					20																	4768882		2203	4300	6503	SO:0001819	synonymous_variant	9770				cell cycle|signal transduction	nucleus	protein binding	g.chr20:4768882G>A	D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"""centromere protein 34"""	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.672C>T	20.37:g.4768882G>A						RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Silent_p.Y224Y	p.Y224Y	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN			9	867	-			224			Ras-associating.		A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Silent	SNP	ENST00000379400.3	37	c.672C>T	CCDS13083.1																																																																																				0.383	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1	NM_014737		4	132	0	0	0	0.000602	0	4	132				
GRIA2	2891	broad.mit.edu	37	4	158142278	158142278	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr4:158142278G>C	ENST00000264426.9	+	1	363	c.84G>C	c.(82-84)caG>caC	p.Q28H	GRIA2_ENST00000393815.2_Intron|GRIA2_ENST00000449365.1_5'Flank|GRIA2_ENST00000296526.7_Missense_Mutation_p.Q28H|GRIA2_ENST00000504801.1_Intron|GRIA2_ENST00000507898.1_Intron	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	28					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	ACAGCATACAGATAGGTAGGT	0.358																																						ENST00000296526.7																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(82-84)caG>caC		glutamate receptor, ionotropic, AMPA 2	L-Glutamic Acid(DB00142)						252.0	229.0	237.0					4																	158142278		2203	4300	6503	SO:0001583	missense	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158142278G>C		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.84G>C	4.37:g.158142278G>C	ENSP00000264426:p.Gln28His					GRIA2_ENST00000264426.9_Missense_Mutation_p.Q28H|GRIA2_ENST00000393815.2_Intron|GRIA2_ENST00000507898.1_Intron|GRIA2_ENST00000504801.1_Intron	p.Q28H	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	1	409	+	all_hematologic(180;0.24)	Renal(120;0.0458)	28					A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	c.84G>C	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.789921	0.50102	.	.	ENSG00000120251	ENST00000512774;ENST00000509417;ENST00000296526;ENST00000264426	T;T;T	0.21543	2.0;2.0;2.0	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.40839	0.1133	L	0.59436	1.845	0.80722	D	1	D;D	0.61080	0.982;0.989	D;P	0.65874	0.939;0.61	T	0.13791	-1.0496	10	0.66056	D	0.02	.	13.6695	0.62416	0.0741:0.0:0.9259:0.0	.	28;28	P42262;P42262-2	GRIA2_HUMAN;.	H	28	ENSP00000425217:Q28H;ENSP00000296526:Q28H;ENSP00000264426:Q28H	ENSP00000264426:Q28H	Q	+	3	2	GRIA2	158361728	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.093000	0.41710	2.580000	0.87095	0.484000	0.47621	CAG		0.358	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			63	215	0	0	0	0.003610	0	63	215				
ZNF211	10520	broad.mit.edu	37	19	58152577	58152577	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr19:58152577A>G	ENST00000347302.3	+	3	902	c.723A>G	c.(721-723)atA>atG	p.I241M	ZNF211_ENST00000254182.7_Missense_Mutation_p.I232M|ZNF211_ENST00000544273.1_Missense_Mutation_p.I253M|ZNF211_ENST00000541801.1_Missense_Mutation_p.I232M|ZNF211_ENST00000420680.1_Missense_Mutation_p.I245M|ZNF211_ENST00000240731.4_Missense_Mutation_p.I254M|ZNF211_ENST00000391703.3_Missense_Mutation_p.I180M|ZNF211_ENST00000299871.5_Missense_Mutation_p.I306M	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	241					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTAGCCACATAGACACACTTG	0.448																																						ENST00000544273.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(757-759)atA>atG		zinc finger protein 211							92.0	93.0	93.0					19																	58152577		2203	4300	6503	SO:0001583	missense	0					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58152577A>G	U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"""Zinc fingers, C2H2-type"", ""-"""	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.723A>G	19.37:g.58152577A>G	ENSP00000339562:p.Ile241Met					ZNF211_ENST00000391703.3_Missense_Mutation_p.I180M|ZNF211_ENST00000347302.3_Missense_Mutation_p.I241M|ZNF211_ENST00000541801.1_Missense_Mutation_p.I232M|ZNF211_ENST00000299871.5_Missense_Mutation_p.I306M|ZNF211_ENST00000420680.1_Missense_Mutation_p.I245M|ZNF211_ENST00000240731.4_Missense_Mutation_p.I254M|ZNF211_ENST00000254182.7_Missense_Mutation_p.I232M	p.I253M			Q13398	ZN211_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1086	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	241					B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Missense_Mutation	SNP	ENST00000347302.3	37	c.759A>G	CCDS12957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.92|12.92	2.083064|2.083064	0.36758|0.36758	.|.	.|.	ENSG00000121417|ENSG00000121417	ENST00000420680;ENST00000347302;ENST00000254182;ENST00000391703;ENST00000541801;ENST00000299871;ENST00000544273;ENST00000240731|ENST00000407202	T;T;T;T;T;T;T;T|.	0.15372|.	2.43;2.43;2.43;2.43;2.43;2.43;2.43;2.43|.	3.65|3.65	-6.8|-6.8	0.01709|0.01709	.|.	.|.	.|.	.|.	.|.	T|T	0.16171|0.16171	0.0389|0.0389	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B;B;B;B;B|.	0.33512|.	0.004;0.002;0.415;0.032;0.001;0.001|.	B;B;B;B;B;B|.	0.34301|.	0.004;0.002;0.179;0.004;0.002;0.002|.	T|T	0.22591|0.22591	-1.0212|-1.0212	9|5	0.46703|.	T|.	0.11|.	.|.	2.4299|2.4299	0.04469|0.04469	0.2485:0.3431:0.2951:0.1133|0.2485:0.3431:0.2951:0.1133	.|.	245;253;306;232;241;254|.	Q13398-4;Q13398-3;F8WDV2;Q13398-2;Q13398;B9ZVW1|.	.;.;.;.;ZN211_HUMAN;.|.	M|G	245;241;232;180;232;306;253;254|245	ENSP00000399193:I245M;ENSP00000339562:I241M;ENSP00000254182:I232M;ENSP00000375584:I180M;ENSP00000442601:I232M;ENSP00000299871:I306M;ENSP00000441386:I253M;ENSP00000240731:I254M|.	ENSP00000240731:I254M|.	I|R	+|+	3|1	3|2	ZNF211|ZNF211	62844389|62844389	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.419000|0.419000	0.31324|0.31324	0.014000|0.014000	0.13333|0.13333	-1.595000|-1.595000	0.01613|0.01613	0.482000|0.482000	0.46254|0.46254	ATA|AGA		0.448	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1			3	163	0	0	0	0.004672	0	3	163				
KRTAP4-4	84616	broad.mit.edu	37	17	39316834	39316834	+	Missense_Mutation	SNP	C	C	T	rs201735937		TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr17:39316834C>T	ENST00000390661.3	-	1	149	c.110G>A	c.(109-111)cGc>cAc	p.R37H		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	37	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].					keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCAGCTGGGGCGGCAGCAGGT	0.652																																						ENST00000390661.3																			0				kidney(1)|large_intestine(1)|lung(5)	7						c.(109-111)cGc>cAc		keratin associated protein 4-4							38.0	51.0	47.0					17																	39316834		2182	4289	6471	SO:0001583	missense	84616					keratin filament		g.chr17:39316834C>T	AJ406936	CCDS11383.1	17q21.2	2013-06-25			ENSG00000171396	ENSG00000171396		"""Keratin associated proteins"""	16928	protein-coding gene	gene with protein product			"""keratin associated protein 4-13"""	KRTAP4-13		11279113	Standard	NM_032524		Approved	KAP4.4, KAP4.13	uc002hwc.3	Q9BYR3	OTTHUMG00000133428	ENST00000390661.3:c.110G>A	17.37:g.39316834C>T	ENSP00000375076:p.Arg37His						p.R37H	NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	149	-		Breast(137;0.000496)	37			26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		Q9BYU7	Missense_Mutation	SNP	ENST00000390661.3	37	c.110G>A	CCDS11383.1	.	.	.	.	.	.	.	.	.	.	.	14.74	2.626581	0.46840	.	.	ENSG00000171396	ENST00000390661	T	0.01495	4.83	5.25	0.674	0.17946	.	0.575390	0.11899	N	0.518835	T	0.04497	0.0123	H	0.94542	3.55	0.09310	N	1	B	0.30236	0.274	B	0.23275	0.045	T	0.18209	-1.0344	10	0.59425	D	0.04	.	5.1247	0.14878	0.3927:0.4434:0.0:0.1638	.	37	Q9BYR3	KRA44_HUMAN	H	37	ENSP00000375076:R37H	ENSP00000375076:R37H	R	-	2	0	KRTAP4-4	36570360	0.000000	0.05858	0.943000	0.38184	0.985000	0.73830	-2.118000	0.01325	0.580000	0.29522	-0.234000	0.12200	CGC		0.652	KRTAP4-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257291.1			4	82	0	0	0	0.000248	0	4	82				
FAM47A	158724	broad.mit.edu	37	X	34148199	34148199	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chrX:34148199G>T	ENST00000346193.3	-	1	2248	c.2197C>A	c.(2197-2199)Ctt>Att	p.L733I		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	733										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGTCCATAAAGATCGTCAAGA	0.428																																						ENST00000346193.3																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(2197-2199)Ctt>Att		family with sequence similarity 47, member A							133.0	128.0	129.0					X																	34148199		2202	4300	6502	SO:0001583	missense	158724							g.chrX:34148199G>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.2197C>A	X.37:g.34148199G>T	ENSP00000345029:p.Leu733Ile						p.L733I	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	2248	-			733					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.2197C>A	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.871650	0.33069	.	.	ENSG00000185448	ENST00000346193	T	0.20463	2.07	1.17	1.17	0.20885	.	.	.	.	.	T	0.41166	0.1147	M	0.77616	2.38	0.09310	N	0.999999	D	0.67145	0.996	D	0.79108	0.992	T	0.10086	-1.0645	9	0.87932	D	0	.	5.3637	0.16101	0.0:0.0:1.0:0.0	.	733	Q5JRC9	FA47A_HUMAN	I	733	ENSP00000345029:L733I	ENSP00000345029:L733I	L	-	1	0	FAM47A	34058120	0.577000	0.26708	0.343000	0.25615	0.038000	0.13279	1.022000	0.30052	0.880000	0.35969	0.544000	0.68410	CTT		0.428	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		5	250	1	0	0.00116845	0.001168	0.00182887	5	250				
AHNAK	79026	broad.mit.edu	37	11	62287957	62287957	+	Silent	SNP	T	T	C			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr11:62287957T>C	ENST00000378024.4	-	5	14206	c.13932A>G	c.(13930-13932)caA>caG	p.Q4644Q	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4644				Q -> H (in Ref. 4; AAA69898). {ECO:0000305}.	protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGTCTGGGCCTTGAACGTCCA	0.537																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(13930-13932)caA>caG		AHNAK nucleoprotein							180.0	184.0	182.0					11																	62287957		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62287957T>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.13932A>G	11.37:g.62287957T>C						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.Q4644Q	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	14206	-		Melanoma(852;0.155)	4644	Q -> H (in Ref. 2; AAA69898).				A1A586	Silent	SNP	ENST00000378024.4	37	c.13932A>G	CCDS31584.1																																																																																				0.537	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		5	306	0	0	0	0.001168	0	5	306				
ZNF556	80032	broad.mit.edu	37	19	2877358	2877358	+	Silent	SNP	T	T	C			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr19:2877358T>C	ENST00000307635.2	+	4	489	c.402T>C	c.(400-402)cgT>cgC	p.R134R	ZNF556_ENST00000586426.1_Silent_p.R133R	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	134					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(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATTGTAATCGTCATCTGCGCA	0.418																																						ENST00000586426.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31						c.(397-399)cgT>cgC		zinc finger protein 556							128.0	110.0	116.0					19																	2877358		2203	4300	6503	SO:0001819	synonymous_variant	80032				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2877358T>C	BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"""Zinc fingers, C2H2-type"", ""-"""	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.402T>C	19.37:g.2877358T>C						ZNF556_ENST00000307635.2_Silent_p.R134R	p.R133R			Q9HAH1	ZN556_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	486	+			134					Q96GM3	Silent	SNP	ENST00000307635.2	37	c.399T>C	CCDS12097.1																																																																																				0.418	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2	NM_024967		4	106	0	0	0	0.001168	0	4	106				
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs376114863		TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478																																						ENST00000418868.1																			0																																																			0							g.chr3:197348674A>G																													3.37:g.197348674A>G								NR_003266.2						0	585	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.478	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			4	134	0	0	0	0.000602	0	4	134				
ALDOB	229	broad.mit.edu	37	9	104192048	104192048	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr9:104192048C>T	ENST00000374855.4	-	3	437	c.313G>A	c.(313-315)Gtg>Atg	p.V105M	ALDOB_ENST00000468981.3_Intron	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	105					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				TTGATTCCCACCACGATCCCC	0.522																																						ENST00000374855.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(313-315)Gtg>Atg		aldolase B, fructose-bisphosphate							286.0	255.0	265.0					9																	104192048		2203	4300	6503	SO:0001583	missense	229				fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding	g.chr9:104192048C>T	X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.313G>A	9.37:g.104192048C>T	ENSP00000363988:p.Val105Met					ALDOB_ENST00000468981.2_Intron	p.V105M	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN			3	437	-		Acute lymphoblastic leukemia(62;0.0559)	105					Q13741|Q13742|Q5T7D6	Missense_Mutation	SNP	ENST00000374855.4	37	c.313G>A	CCDS6756.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140285	0.77775	.	.	ENSG00000136872	ENST00000374855;ENST00000374853;ENST00000430164	D	0.86230	-2.09	5.94	3.99	0.46301	Aldolase-type TIM barrel (1);	0.057728	0.64402	D	0.000002	D	0.93416	0.7900	M	0.89601	3.045	0.80722	D	1	D	0.63880	0.993	P	0.59546	0.859	D	0.94568	0.7768	10	0.56958	D	0.05	-9.2858	15.5459	0.76101	0.0:0.7394:0.2606:0.0	.	105	P05062	ALDOB_HUMAN	M	105;32;105	ENSP00000363988:V105M	ENSP00000363986:V32M	V	-	1	0	ALDOB	103231869	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.011000	0.57124	1.512000	0.48834	0.650000	0.86243	GTG		0.522	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053434.2			93	254	0	0	0	0.003610	0	93	254				
OR10Z1	128368	broad.mit.edu	37	1	158576561	158576561	+	Silent	SNP	C	C	T			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr1:158576561C>T	ENST00000361284.1	+	1	333	c.333C>T	c.(331-333)aaC>aaT	p.N111N		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	111						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CCTGTACTAACTGCTTCCTTC	0.567																																						ENST00000361284.1																			0				endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37						c.(331-333)aaC>aaT		olfactory receptor, family 10, subfamily Z, member 1							130.0	136.0	134.0					1																	158576561		2203	4299	6502	SO:0001819	synonymous_variant	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158576561C>T	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.333C>T	1.37:g.158576561C>T							p.N111N	NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN			1	333	+	all_hematologic(112;0.0378)		111					Q5VYL0|Q6IFR7	Silent	SNP	ENST00000361284.1	37	c.333C>T	CCDS30901.1																																																																																				0.567	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		6	222	0	0	0	0.001168	0	6	222				
SNAPC4	6621	broad.mit.edu	37	9	139286500	139286500	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr9:139286500G>T	ENST00000298532.2	-	9	1237	c.869C>A	c.(868-870)cCc>cAc	p.P290H		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GTTGATGCTGGGGTGCTCCGA	0.627																																						ENST00000298532.2																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33						c.(868-870)cCc>cAc		small nuclear RNA activating complex, polypeptide 4, 190kDa							119.0	113.0	115.0					9																	139286500		2203	4300	6503	SO:0001583	missense	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139286500G>T	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.869C>A	9.37:g.139286500G>T	ENSP00000298532:p.Pro290His						p.P290H	NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	9	1237	-		Myeloproliferative disorder(178;0.0511)	290			HTH myb-type 1.			Missense_Mutation	SNP	ENST00000298532.2	37	c.869C>A	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804426	0.90623	.	.	ENSG00000165684	ENST00000298532	T	0.31769	1.48	5.69	5.69	0.88448	Transcription regulator HTH, Myb-type, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.71134	0.3304	H	0.97131	3.945	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.81380	-0.0959	10	0.87932	D	0	-34.551	18.8043	0.92030	0.0:0.0:1.0:0.0	.	290	Q5SXM2	SNPC4_HUMAN	H	290	ENSP00000298532:P290H	ENSP00000298532:P290H	P	-	2	0	SNAPC4	138406321	1.000000	0.71417	0.961000	0.40146	0.847000	0.48162	8.656000	0.91102	2.681000	0.91329	0.655000	0.94253	CCC		0.627	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		5	138	1	0	0.00116845	0.001168	0.00182887	5	138				
NF1	4763	broad.mit.edu	37	17	29508804	29508804	+	Splice_Site	SNP	G	G	T			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr17:29508804G>T	ENST00000358273.4	+	7	1113		c.e7+1		NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000431387.4_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GATATGGCTGGTAAGGATACG	0.313			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.e7+1		neurofibromin 1							55.0	56.0	56.0					17																	29508804		2203	4290	6493	SO:0001630	splice_region_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29508804G>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.730+1G>T	17.37:g.29508804G>T		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000431387.4_Splice_Site|NF1_ENST00000356175.3_Splice_Site		NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	7	1113	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)						O00662|Q14284|Q14930|Q14931|Q9UMK3	Splice_Site	SNP	ENST00000358273.4	37		CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.786887	0.90367	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2867	0.94077	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NF1	26532930	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.858000	0.92256	2.793000	0.96121	0.655000	0.94253	.		0.313	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	Intron	19	67	1	0	6.94344e-10	0.006122	1.3156e-09	19	67				
ATG16L2	89849	broad.mit.edu	37	11	72537766	72537766	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr11:72537766A>G	ENST00000321297.5	+	13	1402	c.1264A>G	c.(1264-1266)Aag>Gag	p.K422E	ATG16L2_ENST00000534905.1_Intron	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	422					autophagy (GO:0006914)|negative stranded viral RNA replication (GO:0039689)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			GTCTGGACACAAGGATAAGGT	0.587																																						ENST00000321297.5																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14						c.(1264-1266)Aag>Gag		autophagy related 16-like 2 (S. cerevisiae)							82.0	90.0	87.0					11																	72537766		2200	4293	6493	SO:0001583	missense	89849				autophagy|protein transport	cytoplasm	protein binding	g.chr11:72537766A>G	AK024423	CCDS31634.1	11q13.4	2014-02-12	2012-06-06		ENSG00000168010	ENSG00000168010		"""WD repeat domain containing"""	25464	protein-coding gene	gene with protein product			"""ATG16 autophagy related 16-like 2 (S. cerevisiae)"""			11214971	Standard	XM_005274378		Approved	FLJ00012, WDR80, ATG16B	uc001otd.3	Q8NAA4	OTTHUMG00000167961	ENST00000321297.5:c.1264A>G	11.37:g.72537766A>G	ENSP00000326340:p.Lys422Glu					ATG16L2_ENST00000534905.1_Intron	p.K422E	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.73e-06)		13	1402	+			422					A5PL30|B2RPK5|Q658V4|Q6PID3|Q8NBG0	Missense_Mutation	SNP	ENST00000321297.5	37	c.1264A>G	CCDS31634.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.11|15.11	2.736787|2.736787	0.49045|0.49045	.|.	.|.	ENSG00000168010|ENSG00000168010	ENST00000321297;ENST00000538973;ENST00000541367|ENST00000535830;ENST00000540222	T;T;T|.	0.56941|.	0.43;0.43;0.43|.	5.63|5.63	4.49|4.49	0.54785|0.54785	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.779066|.	0.12102|.	N|.	0.499430|.	T|T	0.43188|0.43188	0.1236|0.1236	N|N	0.21240|0.21240	0.645|0.645	0.80722|0.80722	D|D	1|1	B;B|.	0.22211|.	0.066;0.02|.	B;B|.	0.28465|.	0.05;0.09|.	T|T	0.23404|0.23404	-1.0189|-1.0189	10|5	0.28530|.	T|.	0.3|.	.|.	10.6003|10.6003	0.45362|0.45362	0.8559:0.0:0.0:0.1441|0.8559:0.0:0.0:0.1441	.|.	316;422|.	Q8NAA4-2;Q8NAA4|.	.;A16L2_HUMAN|.	E|R	422;253;253|259;199	ENSP00000326340:K422E;ENSP00000441989:K253E;ENSP00000437412:K253E|.	ENSP00000326340:K422E|.	K|Q	+|+	1|2	0|0	ATG16L2|ATG16L2	72215414|72215414	0.987000|0.987000	0.35691|0.35691	0.999000|0.999000	0.59377|0.59377	0.639000|0.639000	0.38242|0.38242	2.335000|2.335000	0.43929|0.43929	1.051000|1.051000	0.40369|0.40369	0.459000|0.459000	0.35465|0.35465	AAG|CAA		0.587	ATG16L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397305.1	NM_033388		3	136	0	0	0	0.004672	0	3	136				
DYRK1B	9149	broad.mit.edu	37	19	40316404	40316404	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr19:40316404G>A	ENST00000593685.1	-	11	2309	c.1841C>T	c.(1840-1842)cCt>cTt	p.P614L	DYRK1B_ENST00000348817.3_Missense_Mutation_p.P586L|DYRK1B_ENST00000597639.1_Missense_Mutation_p.P586L|DYRK1B_ENST00000323039.5_Missense_Mutation_p.P614L|DYRK1B_ENST00000430012.2_Missense_Mutation_p.P574L			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	614					adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			GCCCAGGTGAGGCCCCAGAGT	0.711																																						ENST00000593685.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1840-1842)cCt>cTt		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B							5.0	7.0	6.0					19																	40316404		2104	4131	6235	SO:0001583	missense	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40316404G>A	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.1841C>T	19.37:g.40316404G>A	ENSP00000469863:p.Pro614Leu					DYRK1B_ENST00000597639.1_Missense_Mutation_p.P586L|DYRK1B_ENST00000430012.2_Missense_Mutation_p.P574L|DYRK1B_ENST00000348817.3_Missense_Mutation_p.P586L|DYRK1B_ENST00000323039.5_Missense_Mutation_p.P614L	p.P614L			Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		11	2309	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		614					O75258|O75788|O75789	Missense_Mutation	SNP	ENST00000593685.1	37	c.1841C>T	CCDS12543.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.863837	0.51482	.	.	ENSG00000105204	ENST00000323039;ENST00000348817;ENST00000430012	T;T;T	0.61040	0.14;0.33;0.43	5.01	5.01	0.66863	.	0.148147	0.46758	D	0.000274	T	0.41880	0.1178	N	0.14661	0.345	0.58432	D	0.999995	P;B;P	0.36909	0.573;0.437;0.573	B;B;B	0.35278	0.199;0.098;0.199	T	0.45175	-0.9279	10	0.44086	T	0.13	.	15.8112	0.78565	0.0:0.0:1.0:0.0	.	574;614;586	Q9Y463-2;Q9Y463;Q9Y463-3	.;DYR1B_HUMAN;.	L	614;586;574	ENSP00000312789:P614L;ENSP00000221803:P586L;ENSP00000403182:P574L	ENSP00000312789:P614L	P	-	2	0	DYRK1B	45008244	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.858000	0.55979	2.312000	0.78011	0.462000	0.41574	CCT		0.711	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		2	0	0	0	0	0.004672	0	2	0				
PLXDC2	84898	broad.mit.edu	37	10	20506361	20506361	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr10:20506361G>C	ENST00000377252.4	+	11	1970	c.1129G>C	c.(1129-1131)Gag>Cag	p.E377Q	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Missense_Mutation_p.E328Q	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	377					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CTAGTCAAAAGAGAAGATGTG	0.418																																						ENST00000377252.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						c.(1129-1131)Gag>Cag		plexin domain containing 2							61.0	58.0	59.0					10																	20506361		2203	4300	6503	SO:0001583	missense	84898					integral to membrane		g.chr10:20506361G>C	AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"""tumor endothelial marker 7-related precursor"""	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.1129G>C	10.37:g.20506361G>C	ENSP00000366460:p.Glu377Gln					PLXDC2_ENST00000377242.3_Missense_Mutation_p.E328Q|PLXDC2_ENST00000377238.2_3'UTR	p.E377Q	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN			11	1970	+			377					Q96E59|Q96PD9|Q96SU9	Missense_Mutation	SNP	ENST00000377252.4	37	c.1129G>C	CCDS7132.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.319730	0.23994	.	.	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000377238;ENST00000536022	T;T	0.76578	-1.03;-1.03	5.55	4.62	0.57501	.	0.091007	0.64402	D	0.000001	T	0.65015	0.2651	L	0.36672	1.1	0.33289	D	0.563271	P;B	0.37864	0.61;0.393	B;B	0.32864	0.154;0.099	T	0.71220	-0.4657	10	0.22109	T	0.4	.	13.1063	0.59249	0.0:0.0:0.8405:0.1595	.	328;377	Q6UX71-2;Q6UX71	.;PXDC2_HUMAN	Q	377;328;240;363	ENSP00000366460:E377Q;ENSP00000366450:E328Q	ENSP00000366446:E240Q	E	+	1	0	PLXDC2	20546367	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	4.686000	0.61700	2.634000	0.89283	0.563000	0.77884	GAG		0.418	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812		3	58	0	0	0	0.004672	0	3	58				
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						ENST00000302558.3																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(5278-5280)Cct>Gct		RANBP2-like and GRIP domain containing 8							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	727851							g.chr2:113127775G>C	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	p.P1760A	NM_001164463.1	NP_001157935.1					23	5469	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		3	46	0	0	0	0.004672	0	3	46				
MTMR11	10903	broad.mit.edu	37	1	149902758	149902758	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr1:149902758C>A	ENST00000439741.2	-	14	1640	c.1390G>T	c.(1390-1392)Gac>Tac	p.D464Y	MTMR11_ENST00000369140.3_Missense_Mutation_p.D392Y|MTMR11_ENST00000361405.6_Missense_Mutation_p.M261I|SF3B4_ENST00000271628.8_5'Flank|MTMR11_ENST00000406732.3_3'UTR|MTMR11_ENST00000492824.1_5'UTR	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	464	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CTGACACTGTCATGAAGAGCA	0.502																																						ENST00000439741.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34						c.(1390-1392)Gac>Tac		myotubularin related protein 11							43.0	47.0	46.0					1																	149902758		2203	4300	6503	SO:0001583	missense	10903						phosphatase activity	g.chr1:149902758C>A	AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.1390G>T	1.37:g.149902758C>A	ENSP00000391668:p.Asp464Tyr					MTMR11_ENST00000369140.3_Missense_Mutation_p.D392Y|MTMR11_ENST00000406732.3_3'UTR|MTMR11_ENST00000361405.6_Missense_Mutation_p.M261I|MTMR11_ENST00000492824.1_5'UTR	p.D464Y	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		14	1640	-	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		464			Myotubularin phosphatase.		B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Missense_Mutation	SNP	ENST00000439741.2	37	c.1390G>T	CCDS53360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.089338|4.089338	0.76756|0.76756	.|.	.|.	ENSG00000014914|ENSG00000014914	ENST00000369140;ENST00000439741|ENST00000361405	D;D|T	0.92858|0.41400	-3.12;-3.12|1.0	5.16|5.16	5.16|5.16	0.70880|0.70880	Myotubularin phosphatase domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.41488|0.41488	0.1161|0.1161	L|L	0.45581|0.45581	1.43|1.43	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.998|.	T|T	0.09207|0.09207	-1.0685|-1.0685	10|7	0.87932|0.36615	D|T	0|0.2	.|.	17.3809|17.3809	0.87404|0.87404	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	392;464|.	A4FU01-4;A4FU01|.	.;MTMRB_HUMAN|.	Y|I	392;464|261	ENSP00000358136:D392Y;ENSP00000391668:D464Y|ENSP00000354941:M261I	ENSP00000358136:D392Y|ENSP00000354941:M261I	D|M	-|-	1|3	0|0	MTMR11|MTMR11	148169382|148169382	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	6.887000|6.887000	0.75616|0.75616	2.676000|2.676000	0.91093|0.91093	0.655000|0.655000	0.94253|0.94253	GAC|ATG		0.502	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873		16	36	1	0	6.31663e-08	0.003163	1.13699e-07	16	36				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs113017032	byFrequency	TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		TGGGACTGAGAGGCAAGATTT	0.438													A|||	16	0.00319489	0.003	0.0029	5008	,	,		21762	0.0		0.003	False		,,,				2504	0.0072					ENST00000376797.3																			0																																																			0							g.chr6:29977342A>T	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977342A>T						ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.438	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		5	70	0	0	0	0.003080	0	5	70				
SPI1	6688	broad.mit.edu	37	11	47380480	47380480	+	Silent	SNP	G	G	A	rs569009172		TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr11:47380480G>A	ENST00000378538.3	-	4	630	c.408C>T	c.(406-408)ggC>ggT	p.G136G	SPI1_ENST00000227163.4_Silent_p.G137G|SPI1_ENST00000533968.1_Silent_p.G136G|SPI1_ENST00000533030.1_Intron	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN	Spi-1 proto-oncogene	136					anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|histone H3 acetylation (GO:0043966)|hypermethylation of CpG island (GO:0044027)|lymphocyte differentiation (GO:0030098)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of erythrocyte differentiation (GO:0045646)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somatic stem cell maintenance (GO:0035019)	nuclear chromatin (GO:0000790)	core promoter binding (GO:0001047)|NFAT protein binding (GO:0051525)|RNA binding (GO:0003723)|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)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		TCTGCCGCTCGCCCTCCTCCT	0.706													G|||	1	0.000199681	0.0	0.0	5008	,	,		14242	0.001		0.0	False		,,,				2504	0.0					ENST00000378538.3																			0				central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8						c.(406-408)ggC>ggT		spleen focus forming virus (SFFV) proviral integration oncogene							16.0	16.0	16.0					11																	47380480		2194	4291	6485	SO:0001819	synonymous_variant	6688				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:47380480G>A	X52056	CCDS7933.2, CCDS44591.1	11p12-p11.22	2014-06-25	2014-06-25		ENSG00000066336	ENSG00000066336			11241	protein-coding gene	gene with protein product	"""hematopoietic transcription factor PU.1"", ""31 kDa transforming protein"""	165170	"""spleen focus forming virus (SFFV) proviral integration oncogene"""			1693183	Standard	NM_003120		Approved	PU.1, SPI-A, OF, SFPI1, SPI-1	uc001nfb.1	P17947	OTTHUMG00000150150	ENST00000378538.3:c.408C>T	11.37:g.47380480G>A						SPI1_ENST00000227163.4_Silent_p.G137G|SPI1_ENST00000533968.1_Silent_p.G136G|SPI1_ENST00000533030.1_Intron	p.G136G	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN		Lung(87;0.0967)	4	630	-			136						Silent	SNP	ENST00000378538.3	37	c.408C>T	CCDS7933.2																																																																																				0.706	SPI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316571.1	NM_003120		3	1	0	0	0	0.004672	0	3	1				
PARD3	56288	broad.mit.edu	37	10	34985316	34985316	+	Missense_Mutation	SNP	A	A	C			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-11A-12D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	e2fc2905-a15a-4820-8fe8-32b2720c4e8e	g.chr10:34985316A>C	ENST00000374789.3	-	2	477	c.152T>G	c.(151-153)tTg>tGg	p.L51W	PARD3_ENST00000374788.3_Missense_Mutation_p.L51W|PARD3_ENST00000545260.1_Missense_Mutation_p.L51W|PARD3_ENST00000340077.5_Missense_Mutation_p.L51W|PARD3_ENST00000346874.4_Missense_Mutation_p.L51W|PARD3_ENST00000374794.3_Missense_Mutation_p.L51W|PARD3_ENST00000545693.1_Missense_Mutation_p.L51W|PARD3_ENST00000374773.1_Missense_Mutation_p.L51W|PARD3_ENST00000350537.4_Missense_Mutation_p.L51W|PARD3_ENST00000374790.3_Missense_Mutation_p.L51W|PARD3_ENST00000374776.1_Missense_Mutation_p.L51W	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	51					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TCCATGTTCCAAGCGATGCAC	0.413																																						ENST00000374789.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63						c.(151-153)tTg>tGg		par-3 family cell polarity regulator							306.0	259.0	275.0					10																	34985316		2203	4300	6503	SO:0001583	missense	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34985316A>C	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.152T>G	10.37:g.34985316A>C	ENSP00000363921:p.Leu51Trp					PARD3_ENST00000350537.4_Missense_Mutation_p.L51W|PARD3_ENST00000545260.1_Missense_Mutation_p.L51W|PARD3_ENST00000374776.1_Missense_Mutation_p.L51W|PARD3_ENST00000374794.3_Missense_Mutation_p.L51W|PARD3_ENST00000545693.1_Missense_Mutation_p.L51W|PARD3_ENST00000340077.5_Missense_Mutation_p.L51W|PARD3_ENST00000374790.3_Missense_Mutation_p.L51W|PARD3_ENST00000346874.4_Missense_Mutation_p.L51W|PARD3_ENST00000374773.1_Missense_Mutation_p.L51W|PARD3_ENST00000374788.3_Missense_Mutation_p.L51W	p.L51W	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN			2	477	-		Breast(68;0.0707)	51					F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	c.152T>G	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.636228	0.87760	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773	T;T;T;T;T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000001	T	0.79476	0.4452	M	0.79123	2.44	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;0.999;1.0;1.0;1.0;0.999;1.0;1.0	T	0.82287	-0.0532	10	0.87932	D	0	.	14.8814	0.70537	1.0:0.0:0.0:0.0	.	51;51;51;51;51;51;51;51;51;51;51	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q8TEW0-8;Q8TEW0-9	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.	W	51	ENSP00000443147:L51W;ENSP00000440857:L51W;ENSP00000363921:L51W;ENSP00000363920:L51W;ENSP00000340591:L51W;ENSP00000363926:L51W;ENSP00000311986:L51W;ENSP00000363922:L51W;ENSP00000363908:L51W;ENSP00000341844:L51W;ENSP00000363905:L51W	ENSP00000341844:L51W	L	-	2	0	PARD3	35025322	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	8.775000	0.91772	2.155000	0.67459	0.528000	0.53228	TTG		0.413	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		38	239	0	0	0	0.004878	0	38	239				
OR2M3	127062	broad.mit.edu	37	1	248366655	248366655	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-11A-12D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	e2fc2905-a15a-4820-8fe8-32b2720c4e8e	g.chr1:248366655G>T	ENST00000456743.1	+	1	324	c.286G>T	c.(286-288)Ggt>Tgt	p.G96C		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TTCTATGGCTGGTTGTGCCAC	0.502																																						ENST00000456743.1																			0				endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(286-288)Ggt>Tgt		olfactory receptor, family 2, subfamily M, member 3							286.0	286.0	286.0					1																	248366655		2203	4300	6503	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366655G>T		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.286G>T	1.37:g.248366655G>T	ENSP00000389625:p.Gly96Cys						p.G96C	NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	324	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		96					B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.286G>T	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.040101	0.35989	.	.	ENSG00000228198	ENST00000456743	T	0.10005	2.92	2.44	1.49	0.22878	GPCR, rhodopsin-like superfamily (1);	0.899723	0.08975	U	0.866609	T	0.36303	0.0962	M	0.89658	3.05	0.09310	N	1	D	0.71674	0.998	D	0.67900	0.954	T	0.08493	-1.0719	10	0.87932	D	0	.	8.4808	0.33040	0.1257:0.0:0.8743:0.0	.	96	Q8NG83	OR2M3_HUMAN	C	96	ENSP00000389625:G96C	ENSP00000389625:G96C	G	+	1	0	OR2M3	246433278	0.017000	0.18338	0.003000	0.11579	0.002000	0.02628	1.867000	0.39499	0.344000	0.23847	0.405000	0.27470	GGT		0.502	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		129	310	1	0	4.83686e-69	0.003610	8.7943e-69	129	310				
RASSF2	9770	broad.mit.edu	37	20	4768882	4768882	+	Silent	SNP	G	G	A	rs559942126		TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-11A-12D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	e2fc2905-a15a-4820-8fe8-32b2720c4e8e	g.chr20:4768882G>A	ENST00000379400.3	-	9	867	c.672C>T	c.(670-672)taC>taT	p.Y224Y	RASSF2_ENST00000379376.2_Silent_p.Y224Y|RASSF2_ENST00000478553.1_5'UTR	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	224	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						TATGGACCACGTACAAGGCAA	0.383													G|||	1	0.000199681	0.0	0.0	5008	,	,		20725	0.0		0.0	False		,,,				2504	0.001				Melanoma(158;1891 3343 50738)	ENST00000379400.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						c.(670-672)taC>taT		Ras association (RalGDS/AF-6) domain family member 2							128.0	127.0	128.0					20																	4768882		2203	4300	6503	SO:0001819	synonymous_variant	9770				cell cycle|signal transduction	nucleus	protein binding	g.chr20:4768882G>A	D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"""centromere protein 34"""	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.672C>T	20.37:g.4768882G>A						RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Silent_p.Y224Y	p.Y224Y	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN			9	867	-			224			Ras-associating.		A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Silent	SNP	ENST00000379400.3	37	c.672C>T	CCDS13083.1																																																																																				0.383	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1	NM_014737		4	132	0	0	0	0.000602	0	4	132				
SNAPC4	6621	broad.mit.edu	37	9	139286500	139286500	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-11A-12D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	e2fc2905-a15a-4820-8fe8-32b2720c4e8e	g.chr9:139286500G>T	ENST00000298532.2	-	9	1237	c.869C>A	c.(868-870)cCc>cAc	p.P290H		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GTTGATGCTGGGGTGCTCCGA	0.627																																						ENST00000298532.2																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33						c.(868-870)cCc>cAc		small nuclear RNA activating complex, polypeptide 4, 190kDa							119.0	113.0	115.0					9																	139286500		2203	4300	6503	SO:0001583	missense	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139286500G>T	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.869C>A	9.37:g.139286500G>T	ENSP00000298532:p.Pro290His						p.P290H	NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	9	1237	-		Myeloproliferative disorder(178;0.0511)	290			HTH myb-type 1.			Missense_Mutation	SNP	ENST00000298532.2	37	c.869C>A	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804426	0.90623	.	.	ENSG00000165684	ENST00000298532	T	0.31769	1.48	5.69	5.69	0.88448	Transcription regulator HTH, Myb-type, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.71134	0.3304	H	0.97131	3.945	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.81380	-0.0959	10	0.87932	D	0	-34.551	18.8043	0.92030	0.0:0.0:1.0:0.0	.	290	Q5SXM2	SNPC4_HUMAN	H	290	ENSP00000298532:P290H	ENSP00000298532:P290H	P	-	2	0	SNAPC4	138406321	1.000000	0.71417	0.961000	0.40146	0.847000	0.48162	8.656000	0.91102	2.681000	0.91329	0.655000	0.94253	CCC		0.627	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		5	138	1	0	0.00116845	0.001168	0.00166921	5	138				
GRIA2	2891	broad.mit.edu	37	4	158142278	158142278	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-11A-12D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	e2fc2905-a15a-4820-8fe8-32b2720c4e8e	g.chr4:158142278G>C	ENST00000264426.9	+	1	363	c.84G>C	c.(82-84)caG>caC	p.Q28H	GRIA2_ENST00000393815.2_Intron|GRIA2_ENST00000449365.1_5'Flank|GRIA2_ENST00000296526.7_Missense_Mutation_p.Q28H|GRIA2_ENST00000504801.1_Intron|GRIA2_ENST00000507898.1_Intron	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	28					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	ACAGCATACAGATAGGTAGGT	0.358																																						ENST00000296526.7																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(82-84)caG>caC		glutamate receptor, ionotropic, AMPA 2	L-Glutamic Acid(DB00142)						252.0	229.0	237.0					4																	158142278		2203	4300	6503	SO:0001583	missense	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158142278G>C		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.84G>C	4.37:g.158142278G>C	ENSP00000264426:p.Gln28His					GRIA2_ENST00000507898.1_Intron|GRIA2_ENST00000504801.1_Intron|GRIA2_ENST00000393815.2_Intron|GRIA2_ENST00000264426.9_Missense_Mutation_p.Q28H	p.Q28H	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	1	409	+	all_hematologic(180;0.24)	Renal(120;0.0458)	28					A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	c.84G>C	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.789921	0.50102	.	.	ENSG00000120251	ENST00000512774;ENST00000509417;ENST00000296526;ENST00000264426	T;T;T	0.21543	2.0;2.0;2.0	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.40839	0.1133	L	0.59436	1.845	0.80722	D	1	D;D	0.61080	0.982;0.989	D;P	0.65874	0.939;0.61	T	0.13791	-1.0496	10	0.66056	D	0.02	.	13.6695	0.62416	0.0741:0.0:0.9259:0.0	.	28;28	P42262;P42262-2	GRIA2_HUMAN;.	H	28	ENSP00000425217:Q28H;ENSP00000296526:Q28H;ENSP00000264426:Q28H	ENSP00000264426:Q28H	Q	+	3	2	GRIA2	158361728	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.093000	0.41710	2.580000	0.87095	0.484000	0.47621	CAG		0.358	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			63	215	0	0	0	0.003610	0	63	215				
ZNF211	10520	broad.mit.edu	37	19	58152577	58152577	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-11A-12D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	e2fc2905-a15a-4820-8fe8-32b2720c4e8e	g.chr19:58152577A>G	ENST00000347302.3	+	3	902	c.723A>G	c.(721-723)atA>atG	p.I241M	ZNF211_ENST00000254182.7_Missense_Mutation_p.I232M|ZNF211_ENST00000544273.1_Missense_Mutation_p.I253M|ZNF211_ENST00000541801.1_Missense_Mutation_p.I232M|ZNF211_ENST00000420680.1_Missense_Mutation_p.I245M|ZNF211_ENST00000240731.4_Missense_Mutation_p.I254M|ZNF211_ENST00000391703.3_Missense_Mutation_p.I180M|ZNF211_ENST00000299871.5_Missense_Mutation_p.I306M	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	241					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTAGCCACATAGACACACTTG	0.448																																						ENST00000544273.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(757-759)atA>atG		zinc finger protein 211							92.0	93.0	93.0					19																	58152577		2203	4300	6503	SO:0001583	missense	0					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58152577A>G	U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"""Zinc fingers, C2H2-type"", ""-"""	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.723A>G	19.37:g.58152577A>G	ENSP00000339562:p.Ile241Met					ZNF211_ENST00000254182.7_Missense_Mutation_p.I232M|ZNF211_ENST00000420680.1_Missense_Mutation_p.I245M|ZNF211_ENST00000541801.1_Missense_Mutation_p.I232M|ZNF211_ENST00000299871.5_Missense_Mutation_p.I306M|ZNF211_ENST00000240731.4_Missense_Mutation_p.I254M|ZNF211_ENST00000391703.3_Missense_Mutation_p.I180M|ZNF211_ENST00000347302.3_Missense_Mutation_p.I241M	p.I253M			Q13398	ZN211_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1086	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	241					B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Missense_Mutation	SNP	ENST00000347302.3	37	c.759A>G	CCDS12957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.92|12.92	2.083064|2.083064	0.36758|0.36758	.|.	.|.	ENSG00000121417|ENSG00000121417	ENST00000420680;ENST00000347302;ENST00000254182;ENST00000391703;ENST00000541801;ENST00000299871;ENST00000544273;ENST00000240731|ENST00000407202	T;T;T;T;T;T;T;T|.	0.15372|.	2.43;2.43;2.43;2.43;2.43;2.43;2.43;2.43|.	3.65|3.65	-6.8|-6.8	0.01709|0.01709	.|.	.|.	.|.	.|.	.|.	T|T	0.16171|0.16171	0.0389|0.0389	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B;B;B;B;B|.	0.33512|.	0.004;0.002;0.415;0.032;0.001;0.001|.	B;B;B;B;B;B|.	0.34301|.	0.004;0.002;0.179;0.004;0.002;0.002|.	T|T	0.22591|0.22591	-1.0212|-1.0212	9|5	0.46703|.	T|.	0.11|.	.|.	2.4299|2.4299	0.04469|0.04469	0.2485:0.3431:0.2951:0.1133|0.2485:0.3431:0.2951:0.1133	.|.	245;253;306;232;241;254|.	Q13398-4;Q13398-3;F8WDV2;Q13398-2;Q13398;B9ZVW1|.	.;.;.;.;ZN211_HUMAN;.|.	M|G	245;241;232;180;232;306;253;254|245	ENSP00000399193:I245M;ENSP00000339562:I241M;ENSP00000254182:I232M;ENSP00000375584:I180M;ENSP00000442601:I232M;ENSP00000299871:I306M;ENSP00000441386:I253M;ENSP00000240731:I254M|.	ENSP00000240731:I254M|.	I|R	+|+	3|1	3|2	ZNF211|ZNF211	62844389|62844389	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.419000|0.419000	0.31324|0.31324	0.014000|0.014000	0.13333|0.13333	-1.595000|-1.595000	0.01613|0.01613	0.482000|0.482000	0.46254|0.46254	ATA|AGA		0.448	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1			3	163	0	0	0	0.004672	0	3	163				
WHAMMP3	339005	broad.mit.edu	37	15	23205108	23205108	+	RNA	SNP	C	C	T			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-11A-12D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	e2fc2905-a15a-4820-8fe8-32b2720c4e8e	g.chr15:23205108C>T	ENST00000400153.2	-	0	746					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		GTGGTTGCCACGGTAACTAAT	0.393																																						ENST00000400153.2																			0																																																			0							g.chr15:23205108C>T	BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23205108C>T								NR_003521.1						0	746	-								Q1A5X8|Q52M16|Q52M18	RNA	SNP	ENST00000400153.2	37																																																																																						0.393	WHAMMP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415907.1	NR_003521		3	20	0	0	0	0.004672	0	3	20				
FAM47A	158724	broad.mit.edu	37	X	34148199	34148199	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-11A-12D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	e2fc2905-a15a-4820-8fe8-32b2720c4e8e	g.chrX:34148199G>T	ENST00000346193.3	-	1	2248	c.2197C>A	c.(2197-2199)Ctt>Att	p.L733I		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	733										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGTCCATAAAGATCGTCAAGA	0.428																																						ENST00000346193.3																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(2197-2199)Ctt>Att		family with sequence similarity 47, member A							133.0	128.0	129.0					X																	34148199		2202	4300	6502	SO:0001583	missense	158724							g.chrX:34148199G>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.2197C>A	X.37:g.34148199G>T	ENSP00000345029:p.Leu733Ile						p.L733I	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	2248	-			733					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.2197C>A	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.871650	0.33069	.	.	ENSG00000185448	ENST00000346193	T	0.20463	2.07	1.17	1.17	0.20885	.	.	.	.	.	T	0.41166	0.1147	M	0.77616	2.38	0.09310	N	0.999999	D	0.67145	0.996	D	0.79108	0.992	T	0.10086	-1.0645	9	0.87932	D	0	.	5.3637	0.16101	0.0:0.0:1.0:0.0	.	733	Q5JRC9	FA47A_HUMAN	I	733	ENSP00000345029:L733I	ENSP00000345029:L733I	L	-	1	0	FAM47A	34058120	0.577000	0.26708	0.343000	0.25615	0.038000	0.13279	1.022000	0.30052	0.880000	0.35969	0.544000	0.68410	CTT		0.428	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		5	250	1	0	0.00116845	0.001168	0.00166921	5	250				
KRTAP4-4	84616	broad.mit.edu	37	17	39316834	39316834	+	Missense_Mutation	SNP	C	C	T	rs201735937		TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-11A-12D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	e2fc2905-a15a-4820-8fe8-32b2720c4e8e	g.chr17:39316834C>T	ENST00000390661.3	-	1	149	c.110G>A	c.(109-111)cGc>cAc	p.R37H		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	37	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].					keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCAGCTGGGGCGGCAGCAGGT	0.652																																						ENST00000390661.3																			0				kidney(1)|large_intestine(1)|lung(5)	7						c.(109-111)cGc>cAc		keratin associated protein 4-4							38.0	51.0	47.0					17																	39316834		2182	4289	6471	SO:0001583	missense	84616					keratin filament		g.chr17:39316834C>T	AJ406936	CCDS11383.1	17q21.2	2013-06-25			ENSG00000171396	ENSG00000171396		"""Keratin associated proteins"""	16928	protein-coding gene	gene with protein product			"""keratin associated protein 4-13"""	KRTAP4-13		11279113	Standard	NM_032524		Approved	KAP4.4, KAP4.13	uc002hwc.3	Q9BYR3	OTTHUMG00000133428	ENST00000390661.3:c.110G>A	17.37:g.39316834C>T	ENSP00000375076:p.Arg37His						p.R37H	NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	149	-		Breast(137;0.000496)	37			26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		Q9BYU7	Missense_Mutation	SNP	ENST00000390661.3	37	c.110G>A	CCDS11383.1	.	.	.	.	.	.	.	.	.	.	.	14.74	2.626581	0.46840	.	.	ENSG00000171396	ENST00000390661	T	0.01495	4.83	5.25	0.674	0.17946	.	0.575390	0.11899	N	0.518835	T	0.04497	0.0123	H	0.94542	3.55	0.09310	N	1	B	0.30236	0.274	B	0.23275	0.045	T	0.18209	-1.0344	10	0.59425	D	0.04	.	5.1247	0.14878	0.3927:0.4434:0.0:0.1638	.	37	Q9BYR3	KRA44_HUMAN	H	37	ENSP00000375076:R37H	ENSP00000375076:R37H	R	-	2	0	KRTAP4-4	36570360	0.000000	0.05858	0.943000	0.38184	0.985000	0.73830	-2.118000	0.01325	0.580000	0.29522	-0.234000	0.12200	CGC		0.652	KRTAP4-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257291.1			4	82	0	0	0	0.000248	0	4	82				
AHNAK	79026	broad.mit.edu	37	11	62287957	62287957	+	Silent	SNP	T	T	C			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-11A-12D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	e2fc2905-a15a-4820-8fe8-32b2720c4e8e	g.chr11:62287957T>C	ENST00000378024.4	-	5	14206	c.13932A>G	c.(13930-13932)caA>caG	p.Q4644Q	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4644				Q -> H (in Ref. 4; AAA69898). {ECO:0000305}.	protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGTCTGGGCCTTGAACGTCCA	0.537																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(13930-13932)caA>caG		AHNAK nucleoprotein							180.0	184.0	182.0					11																	62287957		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62287957T>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.13932A>G	11.37:g.62287957T>C						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.Q4644Q	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	14206	-		Melanoma(852;0.155)	4644	Q -> H (in Ref. 2; AAA69898).				A1A586	Silent	SNP	ENST00000378024.4	37	c.13932A>G	CCDS31584.1																																																																																				0.537	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		5	306	0	0	0	0.001168	0	5	306				
MTMR11	10903	broad.mit.edu	37	1	149902758	149902758	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-11A-12D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	e2fc2905-a15a-4820-8fe8-32b2720c4e8e	g.chr1:149902758C>A	ENST00000439741.2	-	14	1640	c.1390G>T	c.(1390-1392)Gac>Tac	p.D464Y	MTMR11_ENST00000369140.3_Missense_Mutation_p.D392Y|MTMR11_ENST00000361405.6_Missense_Mutation_p.M261I|SF3B4_ENST00000271628.8_5'Flank|MTMR11_ENST00000406732.3_3'UTR|MTMR11_ENST00000492824.1_5'UTR	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	464	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CTGACACTGTCATGAAGAGCA	0.502																																						ENST00000439741.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34						c.(1390-1392)Gac>Tac		myotubularin related protein 11							43.0	47.0	46.0					1																	149902758		2203	4300	6503	SO:0001583	missense	10903						phosphatase activity	g.chr1:149902758C>A	AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.1390G>T	1.37:g.149902758C>A	ENSP00000391668:p.Asp464Tyr					MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000369140.3_Missense_Mutation_p.D392Y|MTMR11_ENST00000406732.3_3'UTR|MTMR11_ENST00000361405.6_Missense_Mutation_p.M261I	p.D464Y	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		14	1640	-	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		464			Myotubularin phosphatase.		B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Missense_Mutation	SNP	ENST00000439741.2	37	c.1390G>T	CCDS53360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.089338|4.089338	0.76756|0.76756	.|.	.|.	ENSG00000014914|ENSG00000014914	ENST00000369140;ENST00000439741|ENST00000361405	D;D|T	0.92858|0.41400	-3.12;-3.12|1.0	5.16|5.16	5.16|5.16	0.70880|0.70880	Myotubularin phosphatase domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.41488|0.41488	0.1161|0.1161	L|L	0.45581|0.45581	1.43|1.43	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.998|.	T|T	0.09207|0.09207	-1.0685|-1.0685	10|7	0.87932|0.36615	D|T	0|0.2	.|.	17.3809|17.3809	0.87404|0.87404	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	392;464|.	A4FU01-4;A4FU01|.	.;MTMRB_HUMAN|.	Y|I	392;464|261	ENSP00000358136:D392Y;ENSP00000391668:D464Y|ENSP00000354941:M261I	ENSP00000358136:D392Y|ENSP00000354941:M261I	D|M	-|-	1|3	0|0	MTMR11|MTMR11	148169382|148169382	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	6.887000|6.887000	0.75616|0.75616	2.676000|2.676000	0.91093|0.91093	0.655000|0.655000	0.94253|0.94253	GAC|ATG		0.502	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873		16	36	1	0	6.31663e-08	0.003163	1.05277e-07	16	36				
ZNF556	80032	broad.mit.edu	37	19	2877358	2877358	+	Silent	SNP	T	T	C			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-11A-12D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	e2fc2905-a15a-4820-8fe8-32b2720c4e8e	g.chr19:2877358T>C	ENST00000307635.2	+	4	489	c.402T>C	c.(400-402)cgT>cgC	p.R134R	ZNF556_ENST00000586426.1_Silent_p.R133R	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	134					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(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATTGTAATCGTCATCTGCGCA	0.418																																						ENST00000586426.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31						c.(397-399)cgT>cgC		zinc finger protein 556							128.0	110.0	116.0					19																	2877358		2203	4300	6503	SO:0001819	synonymous_variant	80032				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2877358T>C	BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"""Zinc fingers, C2H2-type"", ""-"""	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.402T>C	19.37:g.2877358T>C						ZNF556_ENST00000307635.2_Silent_p.R134R	p.R133R			Q9HAH1	ZN556_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	486	+			134					Q96GM3	Silent	SNP	ENST00000307635.2	37	c.399T>C	CCDS12097.1																																																																																				0.418	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2	NM_024967		4	106	0	0	0	0.001168	0	4	106				
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G	rs199732634		TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-11A-12D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	e2fc2905-a15a-4820-8fe8-32b2720c4e8e	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358																																						ENST00000435989.2																			2	Substitution - coding silent(2)	p.S332S(2)	kidney(2)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(994-996)tcG>tcC		zinc finger protein 814							25.0	25.0	25.0					19																	58385762		692	1589	2281	SO:0001819	synonymous_variant	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385762C>G		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.996G>C	19.37:g.58385762C>G						ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	p.S332S	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1230	-			332					A6NF35	Silent	SNP	ENST00000435989.2	37	c.996G>C	CCDS46212.1																																																																																				0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		3	10	0	0	0	0.004672	0	3	10				
ALDOB	229	broad.mit.edu	37	9	104192048	104192048	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-11A-12D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	e2fc2905-a15a-4820-8fe8-32b2720c4e8e	g.chr9:104192048C>T	ENST00000374855.4	-	3	437	c.313G>A	c.(313-315)Gtg>Atg	p.V105M	ALDOB_ENST00000468981.3_Intron	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	105					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				TTGATTCCCACCACGATCCCC	0.522																																						ENST00000374855.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(313-315)Gtg>Atg		aldolase B, fructose-bisphosphate							286.0	255.0	265.0					9																	104192048		2203	4300	6503	SO:0001583	missense	229				fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding	g.chr9:104192048C>T	X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.313G>A	9.37:g.104192048C>T	ENSP00000363988:p.Val105Met					ALDOB_ENST00000468981.2_Intron	p.V105M	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN			3	437	-		Acute lymphoblastic leukemia(62;0.0559)	105					Q13741|Q13742|Q5T7D6	Missense_Mutation	SNP	ENST00000374855.4	37	c.313G>A	CCDS6756.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140285	0.77775	.	.	ENSG00000136872	ENST00000374855;ENST00000374853;ENST00000430164	D	0.86230	-2.09	5.94	3.99	0.46301	Aldolase-type TIM barrel (1);	0.057728	0.64402	D	0.000002	D	0.93416	0.7900	M	0.89601	3.045	0.80722	D	1	D	0.63880	0.993	P	0.59546	0.859	D	0.94568	0.7768	10	0.56958	D	0.05	-9.2858	15.5459	0.76101	0.0:0.7394:0.2606:0.0	.	105	P05062	ALDOB_HUMAN	M	105;32;105	ENSP00000363988:V105M	ENSP00000363986:V32M	V	-	1	0	ALDOB	103231869	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.011000	0.57124	1.512000	0.48834	0.650000	0.86243	GTG		0.522	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053434.2			93	254	0	0	0	0.003610	0	93	254				
SPI1	6688	broad.mit.edu	37	11	47380480	47380480	+	Silent	SNP	G	G	A	rs569009172		TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-11A-12D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	e2fc2905-a15a-4820-8fe8-32b2720c4e8e	g.chr11:47380480G>A	ENST00000378538.3	-	4	630	c.408C>T	c.(406-408)ggC>ggT	p.G136G	SPI1_ENST00000227163.4_Silent_p.G137G|SPI1_ENST00000533968.1_Silent_p.G136G|SPI1_ENST00000533030.1_Intron	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN	Spi-1 proto-oncogene	136					anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|histone H3 acetylation (GO:0043966)|hypermethylation of CpG island (GO:0044027)|lymphocyte differentiation (GO:0030098)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of erythrocyte differentiation (GO:0045646)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somatic stem cell maintenance (GO:0035019)	nuclear chromatin (GO:0000790)	core promoter binding (GO:0001047)|NFAT protein binding (GO:0051525)|RNA binding (GO:0003723)|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)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		TCTGCCGCTCGCCCTCCTCCT	0.706													G|||	1	0.000199681	0.0	0.0	5008	,	,		14242	0.001		0.0	False		,,,				2504	0.0					ENST00000378538.3																			0				central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8						c.(406-408)ggC>ggT		spleen focus forming virus (SFFV) proviral integration oncogene							16.0	16.0	16.0					11																	47380480		2194	4291	6485	SO:0001819	synonymous_variant	6688				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:47380480G>A	X52056	CCDS7933.2, CCDS44591.1	11p12-p11.22	2014-06-25	2014-06-25		ENSG00000066336	ENSG00000066336			11241	protein-coding gene	gene with protein product	"""hematopoietic transcription factor PU.1"", ""31 kDa transforming protein"""	165170	"""spleen focus forming virus (SFFV) proviral integration oncogene"""			1693183	Standard	NM_003120		Approved	PU.1, SPI-A, OF, SFPI1, SPI-1	uc001nfb.1	P17947	OTTHUMG00000150150	ENST00000378538.3:c.408C>T	11.37:g.47380480G>A						SPI1_ENST00000533968.1_Silent_p.G136G|SPI1_ENST00000227163.4_Silent_p.G137G|SPI1_ENST00000533030.1_Intron	p.G136G	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN		Lung(87;0.0967)	4	630	-			136						Silent	SNP	ENST00000378538.3	37	c.408C>T	CCDS7933.2																																																																																				0.706	SPI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316571.1	NM_003120		3	1	0	0	0	0.004672	0	3	1				
NF1	4763	broad.mit.edu	37	17	29508804	29508804	+	Splice_Site	SNP	G	G	T			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-11A-12D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	e2fc2905-a15a-4820-8fe8-32b2720c4e8e	g.chr17:29508804G>T	ENST00000358273.4	+	7	1113		c.e7+1		NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000431387.4_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GATATGGCTGGTAAGGATACG	0.313			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.e7+1		neurofibromin 1							55.0	56.0	56.0					17																	29508804		2203	4290	6493	SO:0001630	splice_region_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29508804G>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.730+1G>T	17.37:g.29508804G>T		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000431387.4_Splice_Site|NF1_ENST00000356175.3_Splice_Site		NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	7	1113	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)						O00662|Q14284|Q14930|Q14931|Q9UMK3	Splice_Site	SNP	ENST00000358273.4	37		CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.786887	0.90367	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2867	0.94077	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NF1	26532930	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.858000	0.92256	2.793000	0.96121	0.655000	0.94253	.		0.313	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	Intron	19	67	1	0	6.94344e-10	0.006122	1.20756e-09	19	67				
ATG16L2	89849	broad.mit.edu	37	11	72537766	72537766	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-11A-12D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	e2fc2905-a15a-4820-8fe8-32b2720c4e8e	g.chr11:72537766A>G	ENST00000321297.5	+	13	1402	c.1264A>G	c.(1264-1266)Aag>Gag	p.K422E	ATG16L2_ENST00000534905.1_Intron	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	422					autophagy (GO:0006914)|negative stranded viral RNA replication (GO:0039689)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			GTCTGGACACAAGGATAAGGT	0.587																																						ENST00000321297.5																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14						c.(1264-1266)Aag>Gag		autophagy related 16-like 2 (S. cerevisiae)							82.0	90.0	87.0					11																	72537766		2200	4293	6493	SO:0001583	missense	89849				autophagy|protein transport	cytoplasm	protein binding	g.chr11:72537766A>G	AK024423	CCDS31634.1	11q13.4	2014-02-12	2012-06-06		ENSG00000168010	ENSG00000168010		"""WD repeat domain containing"""	25464	protein-coding gene	gene with protein product			"""ATG16 autophagy related 16-like 2 (S. cerevisiae)"""			11214971	Standard	XM_005274378		Approved	FLJ00012, WDR80, ATG16B	uc001otd.3	Q8NAA4	OTTHUMG00000167961	ENST00000321297.5:c.1264A>G	11.37:g.72537766A>G	ENSP00000326340:p.Lys422Glu					ATG16L2_ENST00000534905.1_Intron	p.K422E	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.73e-06)		13	1402	+			422					A5PL30|B2RPK5|Q658V4|Q6PID3|Q8NBG0	Missense_Mutation	SNP	ENST00000321297.5	37	c.1264A>G	CCDS31634.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.11|15.11	2.736787|2.736787	0.49045|0.49045	.|.	.|.	ENSG00000168010|ENSG00000168010	ENST00000321297;ENST00000538973;ENST00000541367|ENST00000535830;ENST00000540222	T;T;T|.	0.56941|.	0.43;0.43;0.43|.	5.63|5.63	4.49|4.49	0.54785|0.54785	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.779066|.	0.12102|.	N|.	0.499430|.	T|T	0.43188|0.43188	0.1236|0.1236	N|N	0.21240|0.21240	0.645|0.645	0.80722|0.80722	D|D	1|1	B;B|.	0.22211|.	0.066;0.02|.	B;B|.	0.28465|.	0.05;0.09|.	T|T	0.23404|0.23404	-1.0189|-1.0189	10|5	0.28530|.	T|.	0.3|.	.|.	10.6003|10.6003	0.45362|0.45362	0.8559:0.0:0.0:0.1441|0.8559:0.0:0.0:0.1441	.|.	316;422|.	Q8NAA4-2;Q8NAA4|.	.;A16L2_HUMAN|.	E|R	422;253;253|259;199	ENSP00000326340:K422E;ENSP00000441989:K253E;ENSP00000437412:K253E|.	ENSP00000326340:K422E|.	K|Q	+|+	1|2	0|0	ATG16L2|ATG16L2	72215414|72215414	0.987000|0.987000	0.35691|0.35691	0.999000|0.999000	0.59377|0.59377	0.639000|0.639000	0.38242|0.38242	2.335000|2.335000	0.43929|0.43929	1.051000|1.051000	0.40369|0.40369	0.459000|0.459000	0.35465|0.35465	AAG|CAA		0.587	ATG16L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397305.1	NM_033388		3	136	0	0	0	0.004672	0	3	136				
PLXDC2	84898	broad.mit.edu	37	10	20506361	20506361	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-11A-12D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	e2fc2905-a15a-4820-8fe8-32b2720c4e8e	g.chr10:20506361G>C	ENST00000377252.4	+	11	1970	c.1129G>C	c.(1129-1131)Gag>Cag	p.E377Q	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Missense_Mutation_p.E328Q	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	377					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CTAGTCAAAAGAGAAGATGTG	0.418																																						ENST00000377252.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						c.(1129-1131)Gag>Cag		plexin domain containing 2							61.0	58.0	59.0					10																	20506361		2203	4300	6503	SO:0001583	missense	84898					integral to membrane		g.chr10:20506361G>C	AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"""tumor endothelial marker 7-related precursor"""	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.1129G>C	10.37:g.20506361G>C	ENSP00000366460:p.Glu377Gln					PLXDC2_ENST00000377242.3_Missense_Mutation_p.E328Q|PLXDC2_ENST00000377238.2_3'UTR	p.E377Q	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN			11	1970	+			377					Q96E59|Q96PD9|Q96SU9	Missense_Mutation	SNP	ENST00000377252.4	37	c.1129G>C	CCDS7132.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.319730	0.23994	.	.	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000377238;ENST00000536022	T;T	0.76578	-1.03;-1.03	5.55	4.62	0.57501	.	0.091007	0.64402	D	0.000001	T	0.65015	0.2651	L	0.36672	1.1	0.33289	D	0.563271	P;B	0.37864	0.61;0.393	B;B	0.32864	0.154;0.099	T	0.71220	-0.4657	10	0.22109	T	0.4	.	13.1063	0.59249	0.0:0.0:0.8405:0.1595	.	328;377	Q6UX71-2;Q6UX71	.;PXDC2_HUMAN	Q	377;328;240;363	ENSP00000366460:E377Q;ENSP00000366450:E328Q	ENSP00000366446:E240Q	E	+	1	0	PLXDC2	20546367	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	4.686000	0.61700	2.634000	0.89283	0.563000	0.77884	GAG		0.418	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812		3	58	0	0	0	0.004672	0	3	58				
CYP4A11	1579	broad.mit.edu	37	1	47395831	47395831	+	Missense_Mutation	SNP	G	G	A	rs58897090	byFrequency	TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-11A-12D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	e2fc2905-a15a-4820-8fe8-32b2720c4e8e	g.chr1:47395831G>A	ENST00000310638.4	-	12	1547	c.1516C>T	c.(1516-1518)Ctc>Ttc	p.L506F	CYP4A11_ENST00000371904.4_Missense_Mutation_p.L507F|CYP4A11_ENST00000462347.1_Missense_Mutation_p.L408F	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	506			NGIHLRLRRLPNPCEDKDQL -> MESTCVSGGSLTLVKTR TSFEGLHLPSCLPDPRFCPLPVCPYPVFCLPTFPSSHLPAV PQSACPSLSHLSPGLPTCLSTCLLPTCISCWEKS (in CYP4A11V).		arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	AGCCTCCTGAGACGCAGGTGG	0.577																																						ENST00000310638.4																			0				endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36						c.(1516-1518)Ctc>Ttc		cytochrome P450, family 4, subfamily A, polypeptide 11	NADH(DB00157)						89.0	75.0	80.0					1																	47395831		2203	4298	6501	SO:0001583	missense	1579				long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47395831G>A	L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.1516C>T	1.37:g.47395831G>A	ENSP00000311095:p.Leu506Phe					CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371904.4_Missense_Mutation_p.L507F	p.L506F	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN			12	1547	-			506		NGIHLRLRRLPNPCEDKDQL -> MESTCVSGGSLTLVKTR TSFEGLHLPSCLPDPRFCPLPVCPYPVFCLPTFPSSHLPAV PQSACPSLSHLSPGLPTCLSTCLLPTCISCWEKS (in CYP4A11V).			Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	ENST00000310638.4	37	c.1516C>T	CCDS543.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614624	0.46631	.	.	ENSG00000187048	ENST00000310638;ENST00000371904	T;T	0.69306	-0.39;-0.39	4.71	4.71	0.59529	.	0.139546	0.47093	D	0.000249	T	0.70081	0.3183	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.74272	-0.3719	10	0.87932	D	0	.	13.4352	0.61079	0.0794:0.0:0.9206:0.0	rs58897090	506	Q02928	CP4AB_HUMAN	F	506;507	ENSP00000311095:L506F;ENSP00000360971:L507F	ENSP00000311095:L506F	L	-	1	0	CYP4A11	47168418	0.015000	0.18098	0.719000	0.30619	0.232000	0.25224	0.018000	0.13422	2.330000	0.79161	0.645000	0.84053	CTC		0.577	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778		5	94	0	0	0	0.001984	0	5	94				
CTBS	1486	broad.mit.edu	37	1	85040025	85040033	+	In_Frame_Del	DEL	AGCAGCGCT	AGCAGCGCT	-	rs201734152	byFrequency	TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr1:85040025_85040033delAGCAGCGCT	ENST00000370630.5	-	1	114_122	c.66_74delAGCGCTGCT	c.(64-75)ctagcgctgctg>ctg	p.22_25LALL>L	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	22					chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	chitinase activity (GO:0004568)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		cagcagcgccagcagcgcTAGACCCGGGA	0.718																																						ENST00000370630.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9						c.(64-75)ctg>ct		chitobiase, di-N-acetyl-				474,2688		69,336,1176							0.0		dbSNP_106	4	941,5573		128,685,2444	no	coding	CTBS	NM_004388.2		197,1021,3620	A1A1,A1R,RR		14.4458,14.9905,14.6238				1415,8261				SO:0001651	inframe_deletion	1486					lysosome	cation binding	g.chr1:85040025_85040033delAGCAGCGCT	M95767	CCDS698.1	1p22	2010-05-04			ENSG00000117151	ENSG00000117151	3.2.1.-		2496	protein-coding gene	gene with protein product		600873		CTB		1549114, 7606925	Standard	NM_004388		Approved		uc001dka.2	Q01459	OTTHUMG00000009922	ENST00000370630.5:c.66_74delAGCGCTGCT	1.37:g.85040025_85040033delAGCAGCGCT	ENSP00000359664:p.Leu31_Leu33del					CTBS_ENST00000477677.1_5'UTR	p.LALL22del	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN		all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)	1	114_122	-			22					Q5VX50	In_Frame_Del	DEL	ENST00000370630.5	37	c.66_74delAGCGCTGCT	CCDS698.1																																																																																				0.718	CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027457.2	NM_004388		2	4						2	4	---	---	---	---
OR10Z1	128368	broad.mit.edu	37	1	158576561	158576561	+	Silent	SNP	C	C	T			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-11A-12D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	e2fc2905-a15a-4820-8fe8-32b2720c4e8e	g.chr1:158576561C>T	ENST00000361284.1	+	1	333	c.333C>T	c.(331-333)aaC>aaT	p.N111N		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	111						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CCTGTACTAACTGCTTCCTTC	0.567																																						ENST00000361284.1																			0				endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37						c.(331-333)aaC>aaT		olfactory receptor, family 10, subfamily Z, member 1							130.0	136.0	134.0					1																	158576561		2203	4299	6502	SO:0001819	synonymous_variant	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158576561C>T	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.333C>T	1.37:g.158576561C>T							p.N111N	NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN			1	333	+	all_hematologic(112;0.0378)		111					Q5VYL0|Q6IFR7	Silent	SNP	ENST00000361284.1	37	c.333C>T	CCDS30901.1																																																																																				0.567	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		6	222	0	0	0	0.001168	0	6	222				
LOC728730	728730	broad.mit.edu	37	2	39723084	39723085	+	RNA	INS	-	-	CTTC	rs57997122|rs74177089|rs201781002		TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr2:39723084_39723085insCTTC	ENST00000449569.1	+	0	282				AC007246.3_ENST00000426083.1_RNA|AC007246.3_ENST00000446698.1_RNA|AC007246.3_ENST00000422128.1_RNA|AC007246.3_ENST00000443038.1_RNA	NR_037875.1																						tctttctttttcttccttcctt	0.351																																						ENST00000449569.1																			0																																																			0							g.chr2:39723084_39723085insCTTC																													2.37:g.39723089_39723092dupCTTC						AC007246.3_ENST00000443038.1_RNA|AC007246.3_ENST00000426083.1_RNA|AC007246.3_ENST00000422128.1_RNA|AC007246.3_ENST00000446698.1_RNA		NR_037875.1						0	282	+									RNA	INS	ENST00000449569.1	37																																																																																						0.351	AC007246.3-002	KNOWN	basic	antisense	antisense	OTTHUMT00000325723.1			3	3						3	3	---	---	---	---
DSP	1832	broad.mit.edu	37	6	7542148	7542149	+	De_novo_Start_InFrame	INS	-	-	A	rs17133512|rs75823494	byFrequency	TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr6:7542148_7542149insA	ENST00000379802.3	+	0	341_342				DSP_ENST00000418664.2_De_novo_Start_InFrame|RP3-512B11.3_ENST00000561592.1_RNA	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin						adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGCCCGCCGACATGAGCTGCAA	0.718													|||unknown(LONG_INSERTION)	1000	0.199681	0.2186	0.2291	5008	,	,		12541	0.2778		0.1451	False		,,,				2504	0.1288					ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101								desmoplakin			,	867,3321		117,633,1344					,	0.8	1.0		dbSNP_123	10	1183,6941		133,917,3012	no	frameshift,frameshift	DSP	NM_004415.2,NM_001008844.1	,	250,1550,4356	A1A1,A1R,RR		14.5618,20.702,16.6504	,	,		2050,10262						1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7542148_7542149insA	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212		6.37:g.7542149_7542149dupA						DSP_ENST00000418664.2_De_novo_Start_InFrame		NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	0	341_342	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)						B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Translation_Start_Site	INS	ENST00000379802.3	37		CCDS4501.1																																																																																				0.718	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		3	6						3	6	---	---	---	---
LRP11	84918	broad.mit.edu	37	6	150174150	150174150	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr6:150174150delC	ENST00000239367.2	-	2	765	c.760delG	c.(760-762)gtgfs	p.V254fs	LRP11_ENST00000367368.2_Frame_Shift_Del_p.V254fs|LRP11_ENST00000546019.1_De_novo_Start_OutOfFrame|RP11-350J20.12_ENST00000472053.2_RNA	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	254	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.					integral component of membrane (GO:0016021)				cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		TTCATGTCCACTGACGGGTCC	0.532																																						ENST00000546019.1																			0				cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8								low density lipoprotein receptor-related protein 11							89.0	80.0	83.0					6																	150174150		2203	4300	6503	SO:0001589	frameshift_variant	84918					integral to membrane	receptor activity	g.chr6:150174150delC	AK027641	CCDS5220.1	6q24.3	2013-02-27			ENSG00000120256	ENSG00000120256		"""Low density lipoprotein receptors"""	16936	protein-coding gene	gene with protein product							Standard	NM_032832		Approved	bA350J20.3, MANSC3	uc003qng.2	Q86VZ4	OTTHUMG00000015801	ENST00000239367.2:c.760delG	6.37:g.150174150delC	ENSP00000239367:p.Val254fs					LRP11_ENST00000239367.2_Frame_Shift_Del_p.V254fs|LRP11_ENST00000367368.2_Frame_Shift_Del_p.V254fs				Q86VZ4	LRP11_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)	0	325	-		Ovarian(120;0.0907)						Q5VYC0|Q96SN6	Translation_Start_Site	DEL	ENST00000239367.2	37		CCDS5220.1																																																																																				0.532	LRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042664.1	NM_032832		19	58						19	58	---	---	---	---
CCT6P3	643180	broad.mit.edu	37	7	64532452	64532452	+	RNA	DEL	T	T	-	rs545307202|rs397890951	byFrequency	TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr7:64532452delT	ENST00000426828.1	+	0	1228				SNORA15_ENST00000384334.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		atgcccagccttttttttttt	0.408													|||unknown(HR)	2890	0.577077	0.5333	0.7089	5008	,	,		11284	0.4891		0.6193	False		,,,				2504	0.59					ENST00000426828.1																			0																																																			0							g.chr7:64532452delT			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64532452delT								NR_033416.1						0	1228	+									RNA	DEL	ENST00000426828.1	37																																																																																						0.408	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			2	4						2	4	---	---	---	---
PMS2P4	5382	broad.mit.edu	37	7	66762432	66762432	+	RNA	DEL	G	G	-	rs530279026|rs201332789|rs370991247	byFrequency	TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr7:66762432delG	ENST00000414507.1	-	0	184				Y_RNA_ENST00000364695.1_RNA					postmeiotic segregation increased 2 pseudogene 4																		gtctcaaaaagaaaaaaaaaa	0.408																																						ENST00000414507.1																			0																																																			0							g.chr7:66762432delG	D38438		7q11.22	2010-10-26	2010-10-26	2010-10-26	ENSG00000067601	ENSG00000067601			9129	pseudogene	pseudogene	"""PMS2 pseudogene"""		"""postmeiotic segregation increased 2-like 4"", ""postmeiotic segregation increased 2-like 4 pseudogene"""	PMS2L4		8586419	Standard	NR_046297		Approved	PMS6	uc003tvo.3		OTTHUMG00000156923		7.37:g.66762432delG														0	184	-									RNA	DEL	ENST00000414507.1	37																																																																																						0.408	PMS2P4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346632.1	NR_022007		2	4						2	4	---	---	---	---
SRP54-AS1	100506157	broad.mit.edu	37	14	35390295	35390296	+	RNA	INS	-	-	T	rs113610910|rs58748020|rs398077685|rs77795256	byFrequency	TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr14:35390295_35390296insT	ENST00000556355.1	-	0	524				RP11-85K15.2_ENST00000555015.1_RNA																							CACATATTGCAttttttttttt	0.436													|||unknown(HR)	4098	0.818291	0.736	0.8458	5008	,	,		19317	0.8492		0.8519	False		,,,				2504	0.8436					ENST00000556355.1																			0																																																			0							g.chr14:35390295_35390296insT																													14.37:g.35390306_35390306dupT														0	524	-									RNA	INS	ENST00000556355.1	37																																																																																						0.436	RP11-85K15.2-004	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000410682.2			3	3						3	3	---	---	---	---
FNTB	2342	broad.mit.edu	37	14	65453792	65453793	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr14:65453792_65453793insA	ENST00000246166.2	+	1	355_356	c.121_122insA	c.(121-123)gaafs	p.E41fs	CHURC1-FNTB_ENST00000549987.1_Intron|FNTB_ENST00000542227.1_Intron|FNTB_ENST00000447296.2_Intron	NM_002028.3	NP_002019.1	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	41					negative regulation of cell proliferation (GO:0008285)|phototransduction, visible light (GO:0007603)|positive regulation of cell cycle (GO:0045787)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|protein farnesylation (GO:0018343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to cytokine (GO:0034097)|response to inorganic substance (GO:0010035)|response to organic cyclic compound (GO:0014070)|rhodopsin mediated signaling pathway (GO:0016056)|wound healing (GO:0042060)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	farnesyltranstransferase activity (GO:0004311)|protein farnesyltransferase activity (GO:0004660)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CGACTCGGTGGAAACAGTCACG	0.653																																						ENST00000246166.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(121-123)aacfs		farnesyltransferase, CAAX box, beta																																				SO:0001589	frameshift_variant	2342							g.chr14:65453792_65453793insA		CCDS9769.1	14q23.3	2011-09-28			ENSG00000257365	ENSG00000257365			3785	protein-coding gene	gene with protein product		134636				8276393	Standard	NM_002028		Approved	FPTB		P49356	OTTHUMG00000142811	ENST00000246166.2:c.124dupA	14.37:g.65453795_65453795dupA	ENSP00000246166:p.Glu41fs					CHURC1-FNTB_ENST00000542227.1_Intron|CHURC1-FNTB_ENST00000447296.2_Intron	p.N41fs	NM_002028.3	NP_002019.1				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)	1	355_356	+								B2RDX6|B4E1A0	Frame_Shift_Ins	INS	ENST00000246166.2	37	c.121_122insA	CCDS9769.1																																																																																				0.653	FNTB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000286392.1	NM_002028		17	32						17	32	---	---	---	---
HERC2P9	440248	broad.mit.edu	37	15	28900331	28900331	+	RNA	DEL	A	A	-			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	7bfe5181-9f97-4320-8ea1-b9cc00aff036	g.chr15:28900331delA	ENST00000528584.1	+	0	14					NR_036443.1				hect domain and RLD 2 pseudogene 9																		actctgtctcaaaaaaaaaaa	0.413																																						ENST00000528584.1																			0																																																			0							g.chr15:28900331delA	BC047911		15q13.1	2011-05-24			ENSG00000206149	ENSG00000206149			30495	pseudogene	pseudogene							Standard	NR_036443		Approved	FLJ59185	uc010azc.3		OTTHUMG00000167114		15.37:g.28900331delA								NR_036443.1						0	14	+									RNA	DEL	ENST00000528584.1	37																																																																																						0.413	HERC2P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393268.1	NR_036443		7	12						7	12	---	---	---	---
LRP11	84918	broad.mit.edu	37	6	150174150	150174150	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-11A-12D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	e2fc2905-a15a-4820-8fe8-32b2720c4e8e	g.chr6:150174150delC	ENST00000239367.2	-	2	765	c.760delG	c.(760-762)gtgfs	p.V254fs	LRP11_ENST00000367368.2_Frame_Shift_Del_p.V254fs|LRP11_ENST00000546019.1_De_novo_Start_OutOfFrame|RP11-350J20.12_ENST00000472053.2_RNA	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	254	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.					integral component of membrane (GO:0016021)				cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		TTCATGTCCACTGACGGGTCC	0.532																																						ENST00000546019.1																			0				cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8								low density lipoprotein receptor-related protein 11							89.0	80.0	83.0					6																	150174150		2203	4300	6503	SO:0001589	frameshift_variant	84918					integral to membrane	receptor activity	g.chr6:150174150delC	AK027641	CCDS5220.1	6q24.3	2013-02-27			ENSG00000120256	ENSG00000120256		"""Low density lipoprotein receptors"""	16936	protein-coding gene	gene with protein product							Standard	NM_032832		Approved	bA350J20.3, MANSC3	uc003qng.2	Q86VZ4	OTTHUMG00000015801	ENST00000239367.2:c.760delG	6.37:g.150174150delC	ENSP00000239367:p.Val254fs					LRP11_ENST00000367368.2_Frame_Shift_Del_p.V254fs|LRP11_ENST00000239367.2_Frame_Shift_Del_p.V254fs				Q86VZ4	LRP11_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)	0	325	-		Ovarian(120;0.0907)						Q5VYC0|Q96SN6	Translation_Start_Site	DEL	ENST00000239367.2	37		CCDS5220.1																																																																																				0.532	LRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042664.1	NM_032832		19	58						19	58	---	---	---	---
PMS2P4	5382	broad.mit.edu	37	7	66762432	66762432	+	RNA	DEL	G	G	-	rs530279026|rs201332789|rs370991247	byFrequency	TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-11A-12D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	e2fc2905-a15a-4820-8fe8-32b2720c4e8e	g.chr7:66762432delG	ENST00000414507.1	-	0	184				Y_RNA_ENST00000364695.1_RNA					postmeiotic segregation increased 2 pseudogene 4																		gtctcaaaaagaaaaaaaaaa	0.408																																						ENST00000414507.1																			0																																																			0							g.chr7:66762432delG	D38438		7q11.22	2010-10-26	2010-10-26	2010-10-26	ENSG00000067601	ENSG00000067601			9129	pseudogene	pseudogene	"""PMS2 pseudogene"""		"""postmeiotic segregation increased 2-like 4"", ""postmeiotic segregation increased 2-like 4 pseudogene"""	PMS2L4		8586419	Standard	NR_046297		Approved	PMS6	uc003tvo.3		OTTHUMG00000156923		7.37:g.66762432delG														0	184	-									RNA	DEL	ENST00000414507.1	37																																																																																						0.408	PMS2P4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346632.1	NR_022007		2	4						2	4	---	---	---	---
SRP54-AS1	100506157	broad.mit.edu	37	14	35390295	35390296	+	RNA	INS	-	-	T	rs113610910|rs58748020|rs398077685|rs77795256	byFrequency	TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-11A-12D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	e2fc2905-a15a-4820-8fe8-32b2720c4e8e	g.chr14:35390295_35390296insT	ENST00000556355.1	-	0	524				RP11-85K15.2_ENST00000555015.1_RNA																							CACATATTGCAttttttttttt	0.436													|||unknown(HR)	4098	0.818291	0.736	0.8458	5008	,	,		19317	0.8492		0.8519	False		,,,				2504	0.8436					ENST00000556355.1																			0																																																			0							g.chr14:35390295_35390296insT																													14.37:g.35390306_35390306dupT														0	524	-									RNA	INS	ENST00000556355.1	37																																																																																						0.436	RP11-85K15.2-004	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000410682.2			3	3						3	3	---	---	---	---
FNTB	2342	broad.mit.edu	37	14	65453792	65453793	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-11A-12D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	e2fc2905-a15a-4820-8fe8-32b2720c4e8e	g.chr14:65453792_65453793insA	ENST00000246166.2	+	1	355_356	c.121_122insA	c.(121-123)gaafs	p.E41fs	CHURC1-FNTB_ENST00000549987.1_Intron|FNTB_ENST00000542227.1_Intron|FNTB_ENST00000447296.2_Intron	NM_002028.3	NP_002019.1	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	41					negative regulation of cell proliferation (GO:0008285)|phototransduction, visible light (GO:0007603)|positive regulation of cell cycle (GO:0045787)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|protein farnesylation (GO:0018343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to cytokine (GO:0034097)|response to inorganic substance (GO:0010035)|response to organic cyclic compound (GO:0014070)|rhodopsin mediated signaling pathway (GO:0016056)|wound healing (GO:0042060)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	farnesyltranstransferase activity (GO:0004311)|protein farnesyltransferase activity (GO:0004660)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CGACTCGGTGGAAACAGTCACG	0.653																																						ENST00000246166.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(121-123)aacfs		farnesyltransferase, CAAX box, beta																																				SO:0001589	frameshift_variant	2342							g.chr14:65453792_65453793insA		CCDS9769.1	14q23.3	2011-09-28			ENSG00000257365	ENSG00000257365			3785	protein-coding gene	gene with protein product		134636				8276393	Standard	NM_002028		Approved	FPTB		P49356	OTTHUMG00000142811	ENST00000246166.2:c.124dupA	14.37:g.65453795_65453795dupA	ENSP00000246166:p.Glu41fs					CHURC1-FNTB_ENST00000542227.1_Intron|CHURC1-FNTB_ENST00000447296.2_Intron	p.N41fs	NM_002028.3	NP_002019.1				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)	1	355_356	+								B2RDX6|B4E1A0	Frame_Shift_Ins	INS	ENST00000246166.2	37	c.121_122insA	CCDS9769.1																																																																																				0.653	FNTB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000286392.1	NM_002028		17	32						17	32	---	---	---	---
SALL3	27164	broad.mit.edu	37	18	76753768	76753769	+	Frame_Shift_Ins	INS	-	-	G	rs2447437	byFrequency	TCGA-EM-A1CW-01A-21D-A13W-08	TCGA-EM-A1CW-11A-12D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cfbe393-c8cd-4ab6-8d11-929c1f865e61	e2fc2905-a15a-4820-8fe8-32b2720c4e8e	g.chr18:76753768_76753769insG	ENST00000537592.2	+	2	1777_1778	c.1777_1778insG	c.(1777-1779)ctcfs	p.L593fs	SALL3_ENST00000536229.3_Frame_Shift_Ins_p.L460fs|SALL3_ENST00000575389.2_Frame_Shift_Ins_p.L593fs	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	593			L -> V (in dbSNP:rs2447437). {ECO:0000269|Ref.1}.		forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L593V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CGGGCCGCCCCTCACTAAAGCC	0.733																																						ENST00000536229.3																			1	Substitution - Missense(1)	p.L593V(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(1378-1380)cacfs		spalt-like transcription factor 3																																				SO:0001589	frameshift_variant	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76753768_76753769insG	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	Exception_encountered	18.37:g.76753768_76753769insG	ENSP00000441823:p.Leu593fs					SALL3_ENST00000575389.2_Frame_Shift_Ins_p.H593fs|SALL3_ENST00000537592.2_Frame_Shift_Ins_p.H593fs	p.H460fs			Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	1	2087_2088	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	593					Q9UGH1	Frame_Shift_Ins	INS	ENST00000537592.2	37	c.1378_1379insG	CCDS12013.1																																																																																				0.733	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		3	5						3	5	---	---	---	---
