#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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_ENST00000374773.1_Missense_Mutation_p.L51W|PARD3_ENST00000374794.3_Missense_Mutation_p.L51W|PARD3_ENST00000374788.3_Missense_Mutation_p.L51W|PARD3_ENST00000374790.3_Missense_Mutation_p.L51W|PARD3_ENST00000350537.4_Missense_Mutation_p.L51W|PARD3_ENST00000374776.1_Missense_Mutation_p.L51W|PARD3_ENST00000346874.4_Missense_Mutation_p.L51W|PARD3_ENST00000340077.5_Missense_Mutation_p.L51W|PARD3_ENST00000545260.1_Missense_Mutation_p.L51W|PARD3_ENST00000545693.1_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																																						uc010qej.2																			0		p.R50G(1)		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		Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA.							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		Somatic				PARD3_uc010qep.2_Missense_Mutation_p.L51W|PARD3_uc010qeq.2_Missense_Mutation_p.L51W|PARD3_uc010qek.2_Missense_Mutation_p.L51W|PARD3_uc010qel.2_Missense_Mutation_p.L51W|PARD3_uc010qem.2_Missense_Mutation_p.L51W|PARD3_uc010qen.2_Missense_Mutation_p.L51W|PARD3_uc010qeo.2_Missense_Mutation_p.L51W|PARD3_uc001ixr.2_Missense_Mutation_p.L51W|PARD3_uc001ixq.2_Missense_Mutation_p.L51W|PARD3_uc001ixp.2_Missense_Mutation_p.L51W|PARD3_uc001ixu.2_Missense_Mutation_p.L51W	p.L51W	NM_019619	NP_062565	WXS	Illumina GAIIx	Phase_I	Q8TEW0	PARD3_HUMAN			1	482	-		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	1	0	38	239				
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																																						uc010pio.2																			0				endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37						c.(331-333)aaC>aaT		Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.							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			Somatic					p.N111N	NM_001004478	NP_001004478	WXS	Illumina GAIIx	Phase_I	Q8NGY1	O10Z1_HUMAN			0	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	1	0	6	222				
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					uc001nfb.1																			0				central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8						c.(409-411)ggC>ggT		Homo sapiens spleen focus forming virus (SFFV) proviral integration oncogene spi1 (SPI1), transcript variant 1, mRNA.							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	RNA binding|protein 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			Somatic				SPI1_uc001nfc.1_Silent_p.G136G|SLC39A13_uc001nfd.3_Intron|SPI1_uc009ylp.1_Silent_p.G130G	p.G137G	NM_001080547	NP_001074016	WXS	Illumina GAIIx	Phase_I	P17947	SPI1_HUMAN		Lung(87;0.0967)	3	634	-			136						Silent	SNP	ENST00000378538.3	37	c.411C>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	1	0	3	1				
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_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Silent_p.Y224Y	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)	uc002wld.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		Homo sapiens Ras association (RalGDS/AF-6) domain family member 2 (RASSF2), transcript variant 2, mRNA.							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			Somatic				RASSF2_uc002wlc.3_Non-coding_Transcript|RASSF2_uc002wlf.3_Silent_p.Y224Y	p.Y224Y	NM_170774	NP_739580	WXS	Illumina GAIIx	Phase_I	P50749	RASF2_HUMAN			7	726	-			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	1	0	4	132				
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																																						uc002lwp.1																			0		p.R134H(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31						c.(400-402)cgT>cgC		Homo sapiens zinc finger protein 556 (ZNF556), mRNA.							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			Somatic				ZNF556_uc002lwq.3_Silent_p.R133R	p.R134R	NM_024967	NP_079243	WXS	Illumina GAIIx	Phase_I	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)	3	489	+			134					Q96GM3	Silent	SNP	ENST00000307635.2	37	c.402T>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	1	0	4	106				
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_ENST00000377242.3_Missense_Mutation_p.E328Q|PLXDC2_ENST00000377238.2_3'UTR	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																																						uc001iqg.1																			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		Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.							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		Somatic				PLXDC2_uc001iqh.1_Missense_Mutation_p.E328Q|PLXDC2_uc009xkc.1_Non-coding_Transcript	p.E377Q	NM_032812	NP_116201	WXS	Illumina GAIIx	Phase_I	Q6UX71	PXDC2_HUMAN			10	1766	+			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	1	0	3	58				
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_ENST00000544273.1_Missense_Mutation_p.I253M|ZNF211_ENST00000541801.1_Missense_Mutation_p.I232M|ZNF211_ENST00000391703.3_Missense_Mutation_p.I180M|ZNF211_ENST00000420680.1_Missense_Mutation_p.I245M|ZNF211_ENST00000299871.5_Missense_Mutation_p.I306M|ZNF211_ENST00000254182.7_Missense_Mutation_p.I232M|ZNF211_ENST00000240731.4_Missense_Mutation_p.I254M	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																																						uc002qpr.2																			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.(913-915)atA>atG		Homo sapiens zinc finger protein 211 (ZNF211), transcript variant 1, mRNA.							92.0	93.0	93.0					19																	58152577		2203	4300	6503	SO:0001583	missense	10520					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		Somatic				ZNF211_uc010yhb.1_Missense_Mutation_p.I245M|ZNF211_uc002qpp.2_Missense_Mutation_p.I254M|ZNF211_uc002qpq.2_Missense_Mutation_p.I241M|ZNF211_uc002qpt.2_Missense_Mutation_p.I253M|ZNF211_uc010yhc.1_Missense_Mutation_p.I253M|ZNF211_uc010yhe.1_Missense_Mutation_p.I232M|ZNF211_uc010yhd.1_Missense_Mutation_p.I180M	p.I305M	NM_006385	NP_006376	WXS	Illumina GAIIx	Phase_I	Q13398	ZN211_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1218	+		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.915A>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	1	0	3	163				
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																																						uc004bbk.2																			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		Homo sapiens aldolase B, fructose-bisphosphate (ALDOB), mRNA.							286.0	255.0	265.0					9																	104192048		2203	4300	6503	SO:0001583	missense	229				NADH oxidation|fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|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		Somatic					p.V105M	NM_000035	NP_000026	WXS	Illumina GAIIx	Phase_I	P05062	ALDOB_HUMAN			2	395	-		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	1	0	93	254				
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																																						uc010pzg.2																			0		p.G96V(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(286-288)Ggt>Tgt		Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.							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		Somatic					p.G96C	NM_001004689	NP_001004689	WXS	Illumina GAIIx	Phase_I	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		0	286	+	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	0	0	0	1	0	129	310				
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																																						uc004chh.3																			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		Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA.							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		Somatic					p.P290H	NM_003086	NP_003077	WXS	Illumina GAIIx	Phase_I	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	8	878	-		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	0	0	0	1	0	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_ENST00000431387.4_Splice_Site|NF1_ENST00000356175.3_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)																												uc002hgg.3			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		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.							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	MAPKKK cascade|Ras protein signal transduction|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|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|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|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	Ras GTPase activator activity|protein binding	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)	Somatic				NF1_uc002hge.2_Splice_Site_p.E244_splice|NF1_uc002hgf.2_Splice_Site_p.E244_splice|NF1_uc002hgh.3_Splice_Site_p.E244_splice|NF1_uc010csn.2_Splice_Site_p.E104_splice	p.E244_splice	NM_001042492	NP_001035957	WXS	Illumina GAIIx	Phase_I	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)	244					O00662|Q14284|Q14930|Q14931|Q9UMK3	Splice_Site	SNP	ENST00000358273.4	37	c.730_splice	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	0	0	0	1	0	19	67				
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_ENST00000504801.1_Intron|GRIA2_ENST00000449365.1_5'Flank|GRIA2_ENST00000507898.1_Intron|GRIA2_ENST00000296526.7_Missense_Mutation_p.Q28H	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																																						uc003ipm.4																			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		Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	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		Somatic				GRIA2_uc011cit.2_Intron|GRIA2_uc021xtr.1_Missense_Mutation_p.Q28H|GRIA2_uc003ipl.4_Missense_Mutation_p.Q28H|GRIA2_uc003ipk.4_Intron|GRIA2_uc010iqh.1_5'Flank	p.Q28H	NM_001083619	NP_001077088	WXS	Illumina GAIIx	Phase_I	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	0	543	+	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	1	0	63	215				
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																																						uc001ntl.3																			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		Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.							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			Somatic				AHNAK_uc001ntk.1_Intron	p.Q4644Q	NM_001620	NP_001611	WXS	Illumina GAIIx	Phase_I	Q09666	AHNK_HUMAN			4	14232	-		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	1	0	5	306				
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																																						uc001otd.3																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14						c.(1264-1266)Aag>Gag		Homo sapiens ATG16 autophagy related 16-like 2 (S. cerevisiae) (ATG16L2), mRNA.							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		Somatic				ATG16L2_uc001ote.3_Missense_Mutation_p.K316E|ATG16L2_uc009ytj.2_Intron	p.K422E	NM_033388	NP_203746	WXS	Illumina GAIIx	Phase_I	Q8NAA4	A16L2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.73e-06)		12	1304	+			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	1	0	3	136				
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_ENST00000492824.1_5'UTR|MTMR11_ENST00000369140.3_Missense_Mutation_p.D392Y|SF3B4_ENST00000271628.8_5'Flank|MTMR11_ENST00000361405.6_Missense_Mutation_p.M261I|MTMR11_ENST00000406732.3_3'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																																						uc001etl.4																			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		Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA.							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		Somatic				SF3B4_uc001etk.2_5'Flank|SF3B4_uc009wll.1_5'Flank|MTMR11_uc001etm.2_Missense_Mutation_p.D392Y|MTMR11_uc010pbm.1_3'UTR|MTMR11_uc010pbn.1_3'UTR	p.D464Y	NM_001145862	NP_001139334	WXS	Illumina GAIIx	Phase_I	A4FU01	MTMRB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		13	1641	-	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	0	0	0	1	0	16	36				
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_ENST00000374773.1_Missense_Mutation_p.L51W|PARD3_ENST00000374794.3_Missense_Mutation_p.L51W|PARD3_ENST00000374788.3_Missense_Mutation_p.L51W|PARD3_ENST00000374790.3_Missense_Mutation_p.L51W|PARD3_ENST00000350537.4_Missense_Mutation_p.L51W|PARD3_ENST00000374776.1_Missense_Mutation_p.L51W|PARD3_ENST00000346874.4_Missense_Mutation_p.L51W|PARD3_ENST00000340077.5_Missense_Mutation_p.L51W|PARD3_ENST00000545260.1_Missense_Mutation_p.L51W|PARD3_ENST00000545693.1_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																																						uc010qej.2																			0		p.R50G(1)		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		Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA.							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		Somatic				PARD3_uc010qep.2_Missense_Mutation_p.L51W|PARD3_uc010qeq.2_Missense_Mutation_p.L51W|PARD3_uc010qek.2_Missense_Mutation_p.L51W|PARD3_uc010qel.2_Missense_Mutation_p.L51W|PARD3_uc010qem.2_Missense_Mutation_p.L51W|PARD3_uc010qen.2_Missense_Mutation_p.L51W|PARD3_uc010qeo.2_Missense_Mutation_p.L51W|PARD3_uc001ixr.2_Missense_Mutation_p.L51W|PARD3_uc001ixq.2_Missense_Mutation_p.L51W|PARD3_uc001ixp.2_Missense_Mutation_p.L51W|PARD3_uc001ixu.2_Missense_Mutation_p.L51W	p.L51W	NM_019619	NP_062565	WXS	Illumina GAIIx	Phase_I	Q8TEW0	PARD3_HUMAN			1	482	-		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	1	0	38	239				
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																																						uc010pio.2																			0				endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37						c.(331-333)aaC>aaT		Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.							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			Somatic					p.N111N	NM_001004478	NP_001004478	WXS	Illumina GAIIx	Phase_I	Q8NGY1	O10Z1_HUMAN			0	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	1	0	6	222				
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					uc001nfb.1																			0				central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8						c.(409-411)ggC>ggT		Homo sapiens spleen focus forming virus (SFFV) proviral integration oncogene spi1 (SPI1), transcript variant 1, mRNA.							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	RNA binding|protein 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			Somatic				SPI1_uc001nfc.1_Silent_p.G136G|SLC39A13_uc001nfd.3_Intron|SPI1_uc009ylp.1_Silent_p.G130G	p.G137G	NM_001080547	NP_001074016	WXS	Illumina GAIIx	Phase_I	P17947	SPI1_HUMAN		Lung(87;0.0967)	3	634	-			136						Silent	SNP	ENST00000378538.3	37	c.411C>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	1	0	3	1				
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_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Silent_p.Y224Y	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)	uc002wld.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		Homo sapiens Ras association (RalGDS/AF-6) domain family member 2 (RASSF2), transcript variant 2, mRNA.							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			Somatic				RASSF2_uc002wlc.3_Non-coding_Transcript|RASSF2_uc002wlf.3_Silent_p.Y224Y	p.Y224Y	NM_170774	NP_739580	WXS	Illumina GAIIx	Phase_I	P50749	RASF2_HUMAN			7	726	-			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	1	0	4	132				
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																																						uc002lwp.1																			0		p.R134H(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31						c.(400-402)cgT>cgC		Homo sapiens zinc finger protein 556 (ZNF556), mRNA.							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			Somatic				ZNF556_uc002lwq.3_Silent_p.R133R	p.R134R	NM_024967	NP_079243	WXS	Illumina GAIIx	Phase_I	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)	3	489	+			134					Q96GM3	Silent	SNP	ENST00000307635.2	37	c.402T>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	1	0	4	106				
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_ENST00000377242.3_Missense_Mutation_p.E328Q|PLXDC2_ENST00000377238.2_3'UTR	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																																						uc001iqg.1																			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		Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.							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		Somatic				PLXDC2_uc001iqh.1_Missense_Mutation_p.E328Q|PLXDC2_uc009xkc.1_Non-coding_Transcript	p.E377Q	NM_032812	NP_116201	WXS	Illumina GAIIx	Phase_I	Q6UX71	PXDC2_HUMAN			10	1766	+			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	1	0	3	58				
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_ENST00000544273.1_Missense_Mutation_p.I253M|ZNF211_ENST00000541801.1_Missense_Mutation_p.I232M|ZNF211_ENST00000391703.3_Missense_Mutation_p.I180M|ZNF211_ENST00000420680.1_Missense_Mutation_p.I245M|ZNF211_ENST00000299871.5_Missense_Mutation_p.I306M|ZNF211_ENST00000254182.7_Missense_Mutation_p.I232M|ZNF211_ENST00000240731.4_Missense_Mutation_p.I254M	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																																						uc002qpr.2																			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.(913-915)atA>atG		Homo sapiens zinc finger protein 211 (ZNF211), transcript variant 1, mRNA.							92.0	93.0	93.0					19																	58152577		2203	4300	6503	SO:0001583	missense	10520					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		Somatic				ZNF211_uc010yhb.1_Missense_Mutation_p.I245M|ZNF211_uc002qpp.2_Missense_Mutation_p.I254M|ZNF211_uc002qpq.2_Missense_Mutation_p.I241M|ZNF211_uc002qpt.2_Missense_Mutation_p.I253M|ZNF211_uc010yhc.1_Missense_Mutation_p.I253M|ZNF211_uc010yhe.1_Missense_Mutation_p.I232M|ZNF211_uc010yhd.1_Missense_Mutation_p.I180M	p.I305M	NM_006385	NP_006376	WXS	Illumina GAIIx	Phase_I	Q13398	ZN211_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1218	+		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.915A>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	1	0	3	163				
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																																						uc004bbk.2																			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		Homo sapiens aldolase B, fructose-bisphosphate (ALDOB), mRNA.							286.0	255.0	265.0					9																	104192048		2203	4300	6503	SO:0001583	missense	229				NADH oxidation|fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|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		Somatic					p.V105M	NM_000035	NP_000026	WXS	Illumina GAIIx	Phase_I	P05062	ALDOB_HUMAN			2	395	-		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	1	0	93	254				
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																																						uc010pzg.2																			0		p.G96V(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(286-288)Ggt>Tgt		Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.							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		Somatic					p.G96C	NM_001004689	NP_001004689	WXS	Illumina GAIIx	Phase_I	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		0	286	+	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	0	0	0	1	0	129	310				
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																																						uc004chh.3																			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		Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA.							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		Somatic					p.P290H	NM_003086	NP_003077	WXS	Illumina GAIIx	Phase_I	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	8	878	-		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	0	0	0	1	0	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-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_ENST00000431387.4_Splice_Site|NF1_ENST00000356175.3_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)																												uc002hgg.3			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		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.							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	MAPKKK cascade|Ras protein signal transduction|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|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|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|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	Ras GTPase activator activity|protein binding	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)	Somatic				NF1_uc002hge.2_Splice_Site_p.E244_splice|NF1_uc002hgf.2_Splice_Site_p.E244_splice|NF1_uc002hgh.3_Splice_Site_p.E244_splice|NF1_uc010csn.2_Splice_Site_p.E104_splice	p.E244_splice	NM_001042492	NP_001035957	WXS	Illumina GAIIx	Phase_I	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)	244					O00662|Q14284|Q14930|Q14931|Q9UMK3	Splice_Site	SNP	ENST00000358273.4	37	c.730_splice	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	0	0	0	1	0	19	67				
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_ENST00000504801.1_Intron|GRIA2_ENST00000449365.1_5'Flank|GRIA2_ENST00000507898.1_Intron|GRIA2_ENST00000296526.7_Missense_Mutation_p.Q28H	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																																						uc003ipm.4																			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		Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	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		Somatic				GRIA2_uc011cit.2_Intron|GRIA2_uc021xtr.1_Missense_Mutation_p.Q28H|GRIA2_uc003ipl.4_Missense_Mutation_p.Q28H|GRIA2_uc003ipk.4_Intron|GRIA2_uc010iqh.1_5'Flank	p.Q28H	NM_001083619	NP_001077088	WXS	Illumina GAIIx	Phase_I	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	0	543	+	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	1	0	63	215				
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																																						uc001ntl.3																			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		Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.							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			Somatic				AHNAK_uc001ntk.1_Intron	p.Q4644Q	NM_001620	NP_001611	WXS	Illumina GAIIx	Phase_I	Q09666	AHNK_HUMAN			4	14232	-		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	1	0	5	306				
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																																						uc001otd.3																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14						c.(1264-1266)Aag>Gag		Homo sapiens ATG16 autophagy related 16-like 2 (S. cerevisiae) (ATG16L2), mRNA.							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		Somatic				ATG16L2_uc001ote.3_Missense_Mutation_p.K316E|ATG16L2_uc009ytj.2_Intron	p.K422E	NM_033388	NP_203746	WXS	Illumina GAIIx	Phase_I	Q8NAA4	A16L2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.73e-06)		12	1304	+			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	1	0	3	136				
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_ENST00000492824.1_5'UTR|MTMR11_ENST00000369140.3_Missense_Mutation_p.D392Y|SF3B4_ENST00000271628.8_5'Flank|MTMR11_ENST00000361405.6_Missense_Mutation_p.M261I|MTMR11_ENST00000406732.3_3'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																																						uc001etl.4																			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		Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA.							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		Somatic				SF3B4_uc001etk.2_5'Flank|SF3B4_uc009wll.1_5'Flank|MTMR11_uc001etm.2_Missense_Mutation_p.D392Y|MTMR11_uc010pbm.1_3'UTR|MTMR11_uc010pbn.1_3'UTR	p.D464Y	NM_001145862	NP_001139334	WXS	Illumina GAIIx	Phase_I	A4FU01	MTMRB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		13	1641	-	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	0	0	0	1	0	16	36				
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	FNTB_ENST00000447296.2_Intron|FNTB_ENST00000542227.1_Intron|CHURC1-FNTB_ENST00000549987.1_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																																						uc001xia.3																			0											c.(121-123)gaafs		Homo sapiens farnesyltransferase, CAAX box, beta (FNTB), mRNA.																																				SO:0001589	frameshift_variant	100529261				multicellular organismal development|positive regulation of transcription, DNA-dependent		transferase activity|zinc ion binding	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		Somatic				CHURC1-FNTB_uc010tsl.2_Intron|CHURC1-FNTB_uc010tsm.2_Intron|BC052775_uc001xib.3_5'Flank	p.E41fs	NM_002028	NP_002019	WXS	Illumina GAIIx	Phase_I	B4DL54	B4DL54_HUMAN			0	286_287	+			0					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	---	---	---	---
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	FNTB_ENST00000447296.2_Intron|FNTB_ENST00000542227.1_Intron|CHURC1-FNTB_ENST00000549987.1_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																																						uc001xia.3																			0											c.(121-123)gaafs		Homo sapiens farnesyltransferase, CAAX box, beta (FNTB), mRNA.																																				SO:0001589	frameshift_variant	100529261				multicellular organismal development|positive regulation of transcription, DNA-dependent		transferase activity|zinc ion binding	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		Somatic				CHURC1-FNTB_uc010tsl.2_Intron|CHURC1-FNTB_uc010tsm.2_Intron|BC052775_uc001xib.3_5'Flank	p.E41fs	NM_002028	NP_002019	WXS	Illumina GAIIx	Phase_I	B4DL54	B4DL54_HUMAN			0	286_287	+			0					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	---	---	---	---
