#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
NKX2-1	7080	broad.mit.edu	37	14	36987112	36987112	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr14:36987112T>C	ENST00000518149.1	-	3	1092	c.487A>G	c.(487-489)Aag>Gag	p.K163E	NKX2-1-AS1_ENST00000521292.2_RNA|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000498187.2_Missense_Mutation_p.K163E|NKX2-1_ENST00000522719.2_Missense_Mutation_p.K163E|NKX2-1_ENST00000354822.5_Missense_Mutation_p.K193E			P43699	NKX21_HUMAN	NK2 homeobox 1	163					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|brain development (GO:0007420)|cerebral cortex cell migration (GO:0021795)|cerebral cortex GABAergic interneuron differentiation (GO:0021892)|Clara cell differentiation (GO:0060486)|developmental induction (GO:0031128)|endoderm development (GO:0007492)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|forebrain development (GO:0030900)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain neuron fate commitment (GO:0021877)|globus pallidus development (GO:0021759)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|locomotory behavior (GO:0007626)|lung development (GO:0030324)|lung saccule development (GO:0060430)|menarche (GO:0042696)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron migration (GO:0001764)|oligodendrocyte differentiation (GO:0048709)|phospholipid metabolic process (GO:0006644)|pituitary gland development (GO:0021983)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|rhythmic process (GO:0048511)|thyroid gland development (GO:0030878)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		ACCCGGCGCTTCCTGCGCGGC	0.701			A		NSCLC																																	uc001wtu.3				Dom	yes		14	14q13	7080	A	NK2 homeobox 1			E			NSCLC		0				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7						c.(577-579)Aag>Gag		Homo sapiens NK2 homeobox 1 (NKX2-1), transcript variant 1, mRNA.							18.0	21.0	20.0					14																	36987112		2201	4297	6498	SO:0001583	missense	7080				epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding	g.chr14:36987112T>C		CCDS9659.1, CCDS41945.1	14q13.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000136352	ENSG00000136352		"""Homeoboxes / ANTP class : NKL subclass"""	11825	protein-coding gene	gene with protein product		600635	"""benign chorea"", ""thyroid transcription factor 1"""	NKX2A, BCH, TITF1		1976511	Standard	NM_001079668		Approved	TTF-1, TTF1	uc001wtu.3	P43699	OTTHUMG00000140225	ENST00000518149.1:c.487A>G	14.37:g.36987112T>C	ENSP00000428341:p.Lys163Glu					SFTA3_uc001wts.3_Intron|NKX2-1_uc001wtt.3_Missense_Mutation_p.K163E|NKX2-1_uc001wtv.3_Missense_Mutation_p.K163E|BX161496_uc001wtw.1_5'Flank	p.K193E	NM_001079668	NP_001073136	P43699	NKX21_HUMAN	Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)	2	673	-	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		163					D3DSA3|O14954|O14955|Q7KZF6|Q9BRJ8	Missense_Mutation	SNP	ENST00000518149.1	37	c.577A>G	CCDS9659.1	.	.	.	.	.	.	.	.	.	.	T	18.86	3.713367	0.68730	.	.	ENSG00000136352	ENST00000354822;ENST00000498187;ENST00000518149;ENST00000522719	D;D;D;D	0.96967	-4.19;-4.19;-4.19;-4.19	4.39	4.39	0.52855	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98372	0.9459	M	0.92880	3.355	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.77004	0.981;0.989	D	0.99414	1.0931	10	0.87932	D	0	.	13.5919	0.61966	0.0:0.0:0.0:1.0	.	193;163	P43699-3;P43699	.;NKX21_HUMAN	E	193;163;163;163	ENSP00000346879:K193E;ENSP00000429607:K163E;ENSP00000428341:K163E;ENSP00000429519:K163E	ENSP00000346879:K193E	K	-	1	0	NKX2-1	36056863	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.836000	0.86788	1.630000	0.50440	0.454000	0.30748	AAG		0.701	NKX2-1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376225.2	NM_003317		9	7	0	0	0	1	0	9	7				
ZFHX3	463	broad.mit.edu	37	16	72821228	72821228	+	Silent	SNP	T	T	C			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr16:72821228T>C	ENST00000268489.5	-	10	11619	c.10947A>G	c.(10945-10947)tcA>tcG	p.S3649S	AC004943.1_ENST00000584072.1_RNA|RP5-991G20.4_ENST00000569195.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|ZFHX3_ENST00000397992.5_Silent_p.S2735S	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3649					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCTGAACCCCTGAGGTGCTGC	0.602																																						uc002fck.3																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(10945-10947)tcA>tcG		Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.							76.0	74.0	75.0					16																	72821228		2198	4300	6498	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821228T>C	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10947A>G	16.37:g.72821228T>C						AK021563_uc002fcj.1_Non-coding_Transcript|ZFHX3_uc002fcl.3_Silent_p.S2735S	p.S3649S	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			9	11620	-		Ovarian(137;0.13)	3649					D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.10947A>G	CCDS10908.1																																																																																				0.602	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		43	60	0	0	0	1	0	43	60				
BMPER	168667	broad.mit.edu	37	7	33976989	33976989	+	Missense_Mutation	SNP	A	A	T			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr7:33976989A>T	ENST00000297161.2	+	4	682	c.308A>T	c.(307-309)gAa>gTa	p.E103V	BMPER_ENST00000426693.1_Missense_Mutation_p.E103V	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	103	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GCCTGTTGTGAACAGTGCAAA	0.488																																						uc011kap.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(307-309)gAa>gTa		Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.							118.0	106.0	110.0					7																	33976989		2203	4300	6503	SO:0001583	missense	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:33976989A>T		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.308A>T	7.37:g.33976989A>T	ENSP00000297161:p.Glu103Val						p.E103V	NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN			3	682	+			103			VWFC 1.		A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	c.308A>T	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	A	18.27	3.587034	0.66105	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.66280	-0.2;-0.2	5.18	5.18	0.71444	von Willebrand factor, type C (2);	0.000000	0.85682	D	0.000000	T	0.72309	0.3444	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	D	0.63488	0.915	T	0.74087	-0.3778	10	0.52906	T	0.07	.	15.0184	0.71605	1.0:0.0:0.0:0.0	.	103	Q8N8U9	BMPER_HUMAN	V	103	ENSP00000297161:E103V;ENSP00000393950:E103V	ENSP00000297161:E103V	E	+	2	0	BMPER	33943514	1.000000	0.71417	0.998000	0.56505	0.556000	0.35491	7.646000	0.83445	1.937000	0.56155	0.460000	0.39030	GAA		0.488	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		31	33	0	0	0	1	0	31	33				
KDSR	2531	broad.mit.edu	37	18	61018297	61018297	+	Missense_Mutation	SNP	T	T	A			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr18:61018297T>A	ENST00000406396.3	-	6	824	c.433A>T	c.(433-435)Aat>Tat	p.N145Y	KDSR_ENST00000326575.5_Intron	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase	145					3-keto-sphinganine metabolic process (GO:0006666)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-dehydrosphinganine reductase activity (GO:0047560)			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						CCCAGGTAATTGATGCTCATT	0.542																																						uc010dpw.3																			0				endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						c.(433-435)Aat>Tat		Homo sapiens 3-ketodihydrosphingosine reductase (KDSR), mRNA.							61.0	62.0	61.0					18																	61018297		2203	4300	6503	SO:0001583	missense	2531				3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding	g.chr18:61018297T>A		CCDS11982.1	18q21	2011-09-20	2008-02-20	2008-02-20	ENSG00000119537	ENSG00000119537	1.1.1.102	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	4021	protein-coding gene	gene with protein product	"""3-dehydrosphinganine reductase"", ""short chain dehydrogenase/reductase family 35C, member 1"""	136440	"""follicular lymphoma variant translocation 1"""	FVT1		8417785, 15328338, 17420465, 19027726	Standard	NM_002035		Approved	DHSR, SDR35C1	uc010dpw.3	Q06136	OTTHUMG00000132792	ENST00000406396.3:c.433A>T	18.37:g.61018297T>A	ENSP00000385083:p.Asn145Tyr					KDSR_uc010xem.2_Intron	p.N145Y	NM_002035	NP_002026	Q06136	KDSR_HUMAN			5	588	-			145					B2R5Y1|B4DMX0	Missense_Mutation	SNP	ENST00000406396.3	37	c.433A>T	CCDS11982.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.950974	0.92660	.	.	ENSG00000119537	ENST00000406396	D	0.94650	-3.48	5.95	5.95	0.96441	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98570	0.9522	H	0.98951	4.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99758	1.1020	10	0.87932	D	0	.	16.4237	0.83790	0.0:0.0:0.0:1.0	.	145	Q06136	KDSR_HUMAN	Y	145	ENSP00000385083:N145Y	ENSP00000385083:N145Y	N	-	1	0	KDSR	59169277	1.000000	0.71417	0.984000	0.44739	0.998000	0.95712	8.040000	0.89188	2.279000	0.76181	0.533000	0.62120	AAT		0.542	KDSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256200.2			42	49	0	0	0	1	0	42	49				
ZNF644	84146	broad.mit.edu	37	1	91404819	91404819	+	Missense_Mutation	SNP	T	T	C	rs529278742		TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr1:91404819T>C	ENST00000370440.1	-	3	2309	c.2092A>G	c.(2092-2094)Atg>Gtg	p.M698V	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.M698V|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	698					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(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TGATTGCACATGTTTACACCT	0.368													T|||	1	0.000199681	0.0	0.0	5008	,	,		19127	0.0		0.0	False		,,,				2504	0.001					uc001dnw.3																			0				breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(2092-2094)Atg>Gtg		Homo sapiens zinc finger protein 644 (ZNF644), transcript variant 1, mRNA.							127.0	127.0	127.0					1																	91404819		2203	4300	6503	SO:0001583	missense	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91404819T>C	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.2092A>G	1.37:g.91404819T>C	ENSP00000359469:p.Met698Val					ZNF644_uc001dnv.3_Intron|ZNF644_uc001dnx.3_Intron|ZNF644_uc001dny.2_Missense_Mutation_p.M698V	p.M698V	NM_201269	NP_958357	Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	2	2375	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	698					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	37	c.2092A>G	CCDS731.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.555980	0.00138	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000536941	T;T	0.00530	6.77;6.77	5.82	-0.746	0.11095	.	0.706833	0.14469	N	0.317717	T	0.00039	0.0001	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.01504	-1.1338	10	0.10636	T	0.68	2.4913	5.1357	0.14934	0.2147:0.5255:0.0:0.2598	.	698	Q9H582	ZN644_HUMAN	V	698;698;270	ENSP00000359469:M698V;ENSP00000337008:M698V	ENSP00000337008:M698V	M	-	1	0	ZNF644	91177407	0.310000	0.24527	0.079000	0.20413	0.619000	0.37552	0.516000	0.22817	-0.449000	0.07117	0.528000	0.53228	ATG		0.368	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		59	58	0	0	0	1	0	59	58				
ACVR2A	92	broad.mit.edu	37	2	148684674	148684674	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr2:148684674T>C	ENST00000241416.7	+	11	2009	c.1373T>C	c.(1372-1374)aTt>aCt	p.I458T	ACVR2A_ENST00000535787.1_Missense_Mutation_p.I350T|ACVR2A_ENST00000404590.1_Missense_Mutation_p.I458T|ACVR2A_ENST00000495775.1_3'UTR	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	458	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.I458T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TGTGAAACCATTGAAGAATGT	0.378																																						uc002twg.3																			1	Substitution - Missense(1)	p.I458T(2)	breast(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45						c.(1372-1374)aTt>aCt		Homo sapiens activin A receptor, type IIA (ACVR2A), mRNA.							106.0	101.0	103.0					2																	148684674		2203	4299	6502	SO:0001583	missense	92				BMP signaling pathway|activin receptor signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	g.chr2:148684674T>C		CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.1373T>C	2.37:g.148684674T>C	ENSP00000241416:p.Ile458Thr					ACVR2A_uc010zbn.2_Missense_Mutation_p.I350T|ACVR2A_uc002twh.3_Missense_Mutation_p.I458T	p.I458T	NM_001616	NP_001607	P27037	AVR2A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0969)	11	1642	+			458			Protein kinase.		B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Missense_Mutation	SNP	ENST00000241416.7	37	c.1373T>C	CCDS33301.1	.	.	.	.	.	.	.	.	.	.	T	18.74	3.688428	0.68271	.	.	ENSG00000121989	ENST00000241416;ENST00000535787;ENST00000404590	T;T;T	0.71341	-0.56;-0.56;-0.56	6.06	6.06	0.98353	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80706	0.4674	M	0.76727	2.345	0.80722	D	1	P	0.41345	0.746	P	0.51550	0.673	T	0.82466	-0.0443	10	0.87932	D	0	.	16.6245	0.84952	0.0:0.0:0.0:1.0	.	458	P27037	AVR2A_HUMAN	T	458;350;458	ENSP00000241416:I458T;ENSP00000439988:I350T;ENSP00000384338:I458T	ENSP00000241416:I458T	I	+	2	0	ACVR2A	148401144	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	8.040000	0.89188	2.323000	0.78572	0.528000	0.53228	ATT		0.378	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616		6	56	0	0	0	1	0	6	56				
SLC26A9	115019	broad.mit.edu	37	1	205892514	205892514	+	Silent	SNP	G	G	A	rs375038065		TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr1:205892514G>A	ENST00000367135.3	-	15	1721	c.1608C>T	c.(1606-1608)tcC>tcT	p.S536S	SLC26A9_ENST00000367134.2_Silent_p.S536S|SLC26A9_ENST00000340781.4_Silent_p.S536S	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	536	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			AGTAGAGAGGGGAGCAGTACG	0.507																																						uc001hdp.3																			0				NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52						c.(1606-1608)tcC>tcT		Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.							151.0	148.0	149.0					1																	205892514		2203	4300	6503	SO:0001819	synonymous_variant	115019					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	g.chr1:205892514G>A	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"""Solute carriers"""	14469	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	608481	"""solute carrier family 26, member 9"""			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.1608C>T	1.37:g.205892514G>A						SLC26A9_uc001hdo.3_Silent_p.S204S|SLC26A9_uc001hdq.3_Silent_p.S536S	p.S536S	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0458)		14	1722	-	Breast(84;0.201)		536			STAS.		A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Silent	SNP	ENST00000367135.3	37	c.1608C>T	CCDS30990.1																																																																																				0.507	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934		8	91	0	0	0	1	0	8	91				
PHF21A	51317	broad.mit.edu	37	11	45958119	45958119	+	Splice_Site	SNP	A	A	G			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr11:45958119A>G	ENST00000418153.2	-	16	1806	c.1607T>C	c.(1606-1608)aTg>aCg	p.M536T	PHF21A_ENST00000323180.6_Splice_Site_p.M490T|PHF21A_ENST00000257821.4_Splice_Site_p.M537T|PHF21A_ENST00000527753.1_5'Flank			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	536	Required for transcriptional repression.				blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						CTTCTTCAGCATCTGAAAAGA	0.388																																						uc001ncc.4																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						c.e16-1		Homo sapiens PHD finger protein 21A (PHF21A), transcript variant 1, mRNA.							114.0	110.0	111.0					11																	45958119		2202	4299	6501	SO:0001630	splice_region_variant	51317				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding	g.chr11:45958119A>G	AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"""Zinc fingers, PHD-type"""	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.1606-1T>C	11.37:g.45958119A>G						PHF21A_uc001ncb.4_Splice_Site_p.M490_splice|PHF21A_uc009ykx.3_Splice_Site_p.M490_splice|PHF21A_uc001nca.1_Splice_Site_p.M272_splice	p.M536_splice	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN			16	2230	-			536			Required for transcriptional repression.		D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Splice_Site	SNP	ENST00000418153.2	37	c.1606_splice	CCDS44578.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.780170	0.49891	.	.	ENSG00000135365	ENST00000257821;ENST00000323180;ENST00000418153;ENST00000532028	T;T;T	0.22134	1.97;1.97;1.97	5.74	5.74	0.90152	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.035961	0.85682	D	0.000000	T	0.24812	0.0602	N	0.13043	0.29	0.80722	D	1	B;D;P	0.53312	0.022;0.959;0.918	B;P;P	0.61132	0.025;0.501;0.884	T	0.07966	-1.0745	10	0.11794	T	0.64	-9.209	16.0469	0.80725	1.0:0.0:0.0:0.0	.	536;490;537	Q96BD5;Q96BD5-2;Q96BD5-3	PF21A_HUMAN;.;.	T	537;490;536;11	ENSP00000257821:M537T;ENSP00000323152:M490T;ENSP00000398824:M536T	ENSP00000257821:M537T	M	-	2	0	PHF21A	45914695	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.923000	0.92808	2.194000	0.70268	0.460000	0.39030	ATG		0.388	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392583.1	NM_016621	Missense_Mutation	27	44	0	0	0	1	0	27	44				
ZNF101	94039	broad.mit.edu	37	19	19790171	19790171	+	Missense_Mutation	SNP	G	G	T			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr19:19790171G>T	ENST00000592502.1	+	4	483	c.373G>T	c.(373-375)Gct>Tct	p.A125S	ZNF101_ENST00000444249.2_3'UTR|ZNF101_ENST00000415784.2_Missense_Mutation_p.A5S			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	125					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(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						GAGAGCTCATGCTGGACACAA	0.507																																						uc002nni.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						c.(373-375)Gct>Tct		Homo sapiens zinc finger protein 101 (ZNF101), mRNA.							106.0	86.0	93.0					19																	19790171		2203	4300	6503	SO:0001583	missense	94039				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19790171G>T	AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"""Zinc fingers, C2H2-type"", ""-"""	12881	protein-coding gene	gene with protein product		603983	"""zinc finger protein 101 (Y2)"""			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.373G>T	19.37:g.19790171G>T	ENSP00000468049:p.Ala125Ser					ZNF101_uc010ecg.2_Missense_Mutation_p.A5S|ZNF101_uc002nnj.2_Missense_Mutation_p.A5S	p.A125S	NM_033204	NP_149981	Q8IZC7	ZN101_HUMAN			3	483	+			125					C9JU83|Q0VDG9	Missense_Mutation	SNP	ENST00000592502.1	37	c.373G>T	CCDS32971.1	.	.	.	.	.	.	.	.	.	.	G	6.910	0.537431	0.13188	.	.	ENSG00000181896	ENST00000318110;ENST00000415440;ENST00000415784	T;T	0.14144	2.53;3.32	0.235	0.235	0.15431	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05640	0.0148	N	0.08118	0	0.21967	N	0.999446	B	0.16603	0.018	B	0.09377	0.004	T	0.36648	-0.9739	9	0.40728	T	0.16	.	2.6964	0.05136	0.4386:0.0:0.5614:0.0	.	125	Q8IZC7	ZN101_HUMAN	S	125;125;5	ENSP00000319716:A125S;ENSP00000400952:A5S	ENSP00000319716:A125S	A	+	1	0	ZNF101	19651171	0.047000	0.20315	0.054000	0.19295	0.056000	0.15407	0.223000	0.17719	0.308000	0.22923	0.313000	0.20887	GCT		0.507	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460559.1	NM_033204		26	35	0	0	0	1	0	26	35				
ARMC8	25852	broad.mit.edu	37	3	137991824	137991824	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr3:137991824G>A	ENST00000469044.1	+	17	1766	c.1495G>A	c.(1495-1497)Gct>Act	p.A499T	NME9_ENST00000383180.2_Intron|NME9_ENST00000341790.5_Intron|NME9_ENST00000484930.1_Intron|NME9_ENST00000536478.1_Intron|ARMC8_ENST00000538260.1_Missense_Mutation_p.A468T|NME9_ENST00000317876.4_Intron|ARMC8_ENST00000461822.1_Missense_Mutation_p.A432T|ARMC8_ENST00000485396.1_Missense_Mutation_p.A426T|ARMC8_ENST00000481646.1_Missense_Mutation_p.A485T|ARMC8_ENST00000393058.3_Missense_Mutation_p.A489T|ARMC8_ENST00000491704.1_Missense_Mutation_p.A457T	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	499										endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						GGCATTTCAGGCTGAACAAAA	0.289																																						uc003esa.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						c.(1453-1455)Gct>Act		Homo sapiens armadillo repeat containing 8 (ARMC8), transcript variant 2, mRNA.							60.0	55.0	57.0					3																	137991824		1808	4066	5874	SO:0001583	missense	25852						binding	g.chr3:137991824G>A		CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"""Armadillo repeat containing"""	24999	protein-coding gene	gene with protein product	"""GID complex subunit 5, VID28 homolog (S. cerevisiae)"""					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.1495G>A	3.37:g.137991824G>A	ENSP00000419413:p.Ala499Thr					NME9_uc003esd.1_Intron|NME9_uc010huf.1_Intron|NME9_uc003ese.1_Intron|ARMC8_uc011bmf.1_Missense_Mutation_p.A468T|ARMC8_uc011bmg.1_Missense_Mutation_p.A432T|ARMC8_uc011bmh.1_Missense_Mutation_p.A426T|ARMC8_uc003esb.1_Missense_Mutation_p.A457T|ARMC8_uc003esc.1_Missense_Mutation_p.A257T|ARMC8_uc003esf.1_Missense_Mutation_p.A68T	p.A485T	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN			17	1820	+			499					A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Missense_Mutation	SNP	ENST00000469044.1	37	c.1453G>A		.	.	.	.	.	.	.	.	.	.	G	23.9	4.469692	0.84533	.	.	ENSG00000114098	ENST00000481646;ENST00000469044;ENST00000491704;ENST00000461822;ENST00000485396;ENST00000538260;ENST00000393058;ENST00000539459	T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;1.28;1.28;1.28;-0.13	5.39	5.39	0.77823	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76807	0.4039	M	0.68317	2.08	0.80722	D	1	D;B;P;D;D	0.63880	0.962;0.067;0.898;0.993;0.978	B;B;P;D;P	0.68192	0.412;0.023;0.633;0.956;0.616	T	0.76767	-0.2838	10	0.46703	T	0.11	-33.5346	16.6367	0.85060	0.0:0.0:1.0:0.0	.	426;432;468;499;485	B7Z637;B7Z441;F5GWK4;Q8IUR7;Q8IUR7-2	.;.;.;ARMC8_HUMAN;.	T	485;499;457;432;426;468;489;356	ENSP00000420333:A485T;ENSP00000419413:A499T;ENSP00000417304:A457T;ENSP00000420706:A432T;ENSP00000417049:A426T;ENSP00000441592:A468T;ENSP00000376778:A489T	ENSP00000376778:A489T	A	+	1	0	ARMC8	139474514	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.624000	0.98398	2.509000	0.84616	0.650000	0.86243	GCT		0.289	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357560.1	NM_015396		7	14	0	0	0	1	0	7	14				
TSC22D2	9819	broad.mit.edu	37	3	150127909	150127909	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr3:150127909A>G	ENST00000361875.3	+	1	1788	c.772A>G	c.(772-774)Atg>Gtg	p.M258V	TSC22D2_ENST00000361136.2_Missense_Mutation_p.M258V	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	258					response to osmotic stress (GO:0006970)		sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GTCGGAGAAAATGAGCCAGCC	0.667																																						uc003exv.3																			0				cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(772-774)Atg>Gtg		Homo sapiens TSC22 domain family, member 2 (TSC22D2), mRNA.							15.0	18.0	17.0					3																	150127909		2194	4282	6476	SO:0001583	missense	9819						sequence-specific DNA binding transcription factor activity	g.chr3:150127909A>G	AB014569	CCDS3149.1	3q25.1	2005-03-01			ENSG00000196428	ENSG00000196428			29095	protein-coding gene	gene with protein product						9734811	Standard	NM_014779		Approved	KIAA0669, TILZ4a, TILZ4b, TILZ4c	uc003exv.3	O75157	OTTHUMG00000159744	ENST00000361875.3:c.772A>G	3.37:g.150127909A>G	ENSP00000354543:p.Met258Val					TSC22D2_uc003exw.3_Non-coding_Transcript|TSC22D2_uc003exx.3_Missense_Mutation_p.M258V	p.M258V	NM_014779	NP_055594	O75157	T22D2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		0	1122	+			258					D3DNI5|Q6PI50|Q9H2Z6|Q9H2Z7|Q9H2Z8	Missense_Mutation	SNP	ENST00000361875.3	37	c.772A>G	CCDS3149.1	.	.	.	.	.	.	.	.	.	.	A	10.86	1.469351	0.26423	.	.	ENSG00000196428	ENST00000361875;ENST00000361136	T;T	0.27890	1.66;1.64	4.02	1.39	0.22231	.	0.083364	0.47093	D	0.000259	T	0.15262	0.0368	L	0.29908	0.895	0.24224	N	0.995425	B;B	0.25441	0.126;0.028	B;B	0.19148	0.024;0.011	T	0.18241	-1.0343	10	0.10111	T	0.7	.	6.2457	0.20815	0.742:0.1619:0.0961:0.0	.	258;258	O75157-2;O75157	.;T22D2_HUMAN	V	258	ENSP00000354543:M258V;ENSP00000354893:M258V	ENSP00000354893:M258V	M	+	1	0	TSC22D2	151610599	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.668000	0.46816	1.472000	0.48140	0.528000	0.53228	ATG		0.667	TSC22D2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357123.2	NM_014779		17	27	0	0	0	1	0	17	27				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333	NP_004324	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		37	48	0	0	0	1	0	37	48				
SMCHD1	23347	broad.mit.edu	37	18	2697862	2697862	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr18:2697862A>G	ENST00000320876.6	+	10	1503	c.1165A>G	c.(1165-1167)Att>Gtt	p.I389V	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.I389V	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	389					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GGTACCTAAGATTGTCAACCT	0.328																																						uc002klm.4																			0				NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						c.(1165-1167)Att>Gtt		Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.							149.0	132.0	138.0					18																	2697862		1857	4101	5958	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2697862A>G	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.1165A>G	18.37:g.2697862A>G	ENSP00000326603:p.Ile389Val					SMCHD1_uc002klk.4_5'Flank	p.I389V	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN			9	1354	+			389					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.1165A>G	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	A	12.70	2.016403	0.35606	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.22945	1.93;1.93	5.06	2.66	0.31614	.	.	.	.	.	T	0.18882	0.0453	L	0.29908	0.895	0.25419	N	0.988284	B	0.02656	0.0	B	0.06405	0.002	T	0.18903	-1.0322	9	0.49607	T	0.09	.	9.3981	0.38415	0.8532:0.0:0.1468:0.0	.	389	A6NHR9	SMHD1_HUMAN	V	389	ENSP00000326603:I389V;ENSP00000261598:I389V	ENSP00000261598:I389V	I	+	1	0	SMCHD1	2687862	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.548000	0.53670	0.351000	0.24027	-0.441000	0.05720	ATT		0.328	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			5	57	0	0	0	1	0	5	57				
SEPT1	1731	broad.mit.edu	37	16	30388975	30388975	+	IGR	SNP	C	C	T			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr16:30388975C>T	ENST00000571393.1	-	0	1589				MYLPF_ENST00000322861.7_Splice_Site_p.F119F			Q8WYJ6	SEPT1_HUMAN	septin 1						cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			CTCTCTCCAGCCTGGAGGAGC	0.662																																						uc002dxv.1																			0				large_intestine(2)|lung(4)	6						c.e6-1		Homo sapiens myosin light chain, phosphorylatable, fast skeletal muscle (MYLPF), mRNA.							57.0	46.0	50.0					16																	30388975		2197	4300	6497	SO:0001628	intergenic_variant	29895				skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle	g.chr16:30388975C>T	AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"""Septins"""	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984		16.37:g.30388975C>T						ZNF48_uc021tgi.1_5'Flank|ZNF48_uc021tgj.1_5'Flank	p.F119_splice	NM_013292	NP_037424	Q96A32	MLRS_HUMAN	Colorectal(24;0.193)		6	413	+			119			EF-hand 2.		B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Splice_Site	SNP	ENST00000571393.1	37	c.357_splice																																																																																					0.662	SEPT1-201	KNOWN	basic	protein_coding	protein_coding		NM_052838		3	6	0	0	0	1	0	3	6				
GALNT7	51809	broad.mit.edu	37	4	174238797	174238797	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr4:174238797G>A	ENST00000265000.4	+	10	1704	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K		NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	541	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.E541K(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		CAGAGGCTTCGAAACTGCTTA	0.393																																						uc003isz.4																			1	Substitution - Missense(1)	p.E541K(2)	large_intestine(1)	central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19						c.(1621-1623)Gaa>Aaa		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) (GALNT7), mRNA.							124.0	121.0	122.0					4																	174238797		2203	4300	6503	SO:0001583	missense	51809				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:174238797G>A	AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"""Glycosyltransferase family 2 domain containing"""	4129	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 7"""	605005	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"""			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.1621G>A	4.37:g.174238797G>A	ENSP00000265000:p.Glu541Lys					GALNT7_uc011ckb.2_Missense_Mutation_p.E318K	p.E541K	NM_017423	NP_059119	Q86SF2	GALT7_HUMAN		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)	9	1704	+		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	541			Ricin B-type lectin.		B3KQU3|Q7Z5W7|Q9UJ28	Missense_Mutation	SNP	ENST00000265000.4	37	c.1621G>A	CCDS3815.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.14|15.14	2.745155|2.745155	0.49151|0.49151	.|.	.|.	ENSG00000109586|ENSG00000109586	ENST00000265000|ENST00000503213	T|.	0.26223|.	1.75|.	4.75|4.75	4.75|4.75	0.60458|0.60458	Ricin B-related lectin (1);Ricin B lectin (2);|.	0.349077|.	0.35525|.	N|.	0.003151|.	T|T	0.77384|0.77384	0.4122|0.4122	M|M	0.77486|0.77486	2.375|2.375	0.80722|0.80722	D|D	1|1	B|.	0.31655|.	0.334|.	B|.	0.18561|.	0.022|.	T|T	0.78250|0.78250	-0.2277|-0.2277	10|5	0.44086|.	T|.	0.13|.	.|.	18.6221|18.6221	0.91324|0.91324	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	541|.	Q86SF2|.	GALT7_HUMAN|.	K|Q	541|111	ENSP00000265000:E541K|.	ENSP00000265000:E541K|.	E|R	+|+	1|2	0|0	GALNT7|GALNT7	174475372|174475372	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.756000|0.756000	0.42949|0.42949	9.781000|9.781000	0.99029|0.99029	2.566000|2.566000	0.86566|0.86566	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.393	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362456.2	NM_017423		6	87	0	0	0	1	0	6	87				
OR5F1	338674	broad.mit.edu	37	11	55761604	55761604	+	Silent	SNP	C	C	T			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr11:55761604C>T	ENST00000278409.1	-	1	497	c.498G>A	c.(496-498)ttG>ttA	p.L166L		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	166					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CACAGAATGACAAGCTGCTGA	0.473																																						uc010riv.2																			0				endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58						c.(496-498)ttG>ttA		Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.							80.0	75.0	77.0					11																	55761604		2201	4296	6497	SO:0001819	synonymous_variant	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761604C>T	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.498G>A	11.37:g.55761604C>T							p.L166L	NM_003697	NP_003688	O95221	OR5F1_HUMAN			0	498	-	Esophageal squamous(21;0.00448)		166					Q495D1|Q6IFB9	Silent	SNP	ENST00000278409.1	37	c.498G>A	CCDS31515.1																																																																																				0.473	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		7	55	0	0	0	1	0	7	55				
ZFP36	7538	broad.mit.edu	37	19	39898789	39898789	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr19:39898789C>G	ENST00000248673.3	+	2	489	c.431C>G	c.(430-432)aCg>aGg	p.T144R	ZFP36_ENST00000594045.1_3'UTR|MIR4530_ENST00000581459.1_RNA|ZFP36_ENST00000597629.1_Missense_Mutation_p.T150R	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	144					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AAATACAAGACGGAACTCTGT	0.647																																					NSCLC(67;1164 1324 12056 21056 30097)	uc002olh.1																			0				large_intestine(1)|lung(5)|pancreas(1)	7						c.(430-432)aCg>aGg		Homo sapiens zinc finger protein 36, C3H type, homolog (mouse) (ZFP36), mRNA.							68.0	73.0	71.0					19																	39898789		2203	4299	6502	SO:0001583	missense	7538				positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding	g.chr19:39898789C>G	M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"""RING-type (C3HC4) zinc fingers"""	12862	protein-coding gene	gene with protein product		190700	"""zinc finger protein 36, C3H type, homolog (mouse)"""			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.431C>G	19.37:g.39898789C>G	ENSP00000248673:p.Thr144Arg						p.T144R	NM_003407	NP_003398	P26651	TTP_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		1	489	+	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		144					B2RA54	Missense_Mutation	SNP	ENST00000248673.3	37	c.431C>G		.	.	.	.	.	.	.	.	.	.	C	20.1	3.939595	0.73557	.	.	ENSG00000128016	ENST00000248673	T	0.51574	0.7	4.07	3.03	0.35002	Zinc finger, CCCH-type (3);	0.060104	0.64402	D	0.000004	T	0.69450	0.3112	M	0.91090	3.175	0.51482	D	0.999927	D	0.64830	0.994	D	0.64237	0.923	T	0.74041	-0.3792	10	0.87932	D	0	-1.1703	9.5022	0.39024	0.0:0.8931:0.0:0.1069	.	144	P26651	TTP_HUMAN	R	144	ENSP00000248673:T144R	ENSP00000248673:T144R	T	+	2	0	ZFP36	44590629	1.000000	0.71417	0.915000	0.36163	0.981000	0.71138	7.571000	0.82399	0.949000	0.37715	0.442000	0.29010	ACG		0.647	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				42	70	0	0	0	1	0	42	70				
C10orf90	118611	broad.mit.edu	37	10	128193581	128193581	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr10:128193581G>A	ENST00000284694.7	-	3	308	c.188C>T	c.(187-189)tCa>tTa	p.S63L	C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000544758.1_Missense_Mutation_p.S160L|C10orf90_ENST00000392694.1_Missense_Mutation_p.S16L|C10orf90_ENST00000356858.3_Missense_Mutation_p.S16L|C10orf90_ENST00000454341.1_Missense_Mutation_p.S63L	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	63					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		GTTTTCTCTTGACTTATTCTC	0.463																																						uc010qum.2																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(478-480)tCa>tTa		Homo sapiens chromosome 10 open reading frame 90 (C10orf90), mRNA.							126.0	114.0	118.0					10																	128193581		2203	4300	6503	SO:0001583	missense	118611							g.chr10:128193581G>A	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.188C>T	10.37:g.128193581G>A	ENSP00000284694:p.Ser63Leu					C10orf90_uc001ljp.3_Missense_Mutation_p.S16L|C10orf90_uc001ljq.3_Missense_Mutation_p.S63L|C10orf90_uc009yao.2_Missense_Mutation_p.S160L|C10orf90_uc001ljs.1_Missense_Mutation_p.S16L	p.S160L	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	3	509	-		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)	63					B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	c.479C>T	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	G	5.183	0.219261	0.09863	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642;ENST00000368674;ENST00000392694	T;T;T;T;T	0.22945	2.24;2.24;2.23;2.24;1.93	4.76	2.76	0.32466	.	0.982655	0.08290	N	0.968530	T	0.23210	0.0561	L	0.43152	1.355	0.09310	N	1	B;B;B;B;B	0.12013	0.005;0.0;0.0;0.001;0.001	B;B;B;B;B	0.13407	0.009;0.003;0.003;0.004;0.003	T	0.19451	-1.0305	10	0.31617	T	0.26	-1.7623	9.9758	0.41783	0.2368:0.0:0.7632:0.0	.	160;160;16;63;63	F5GZL2;B4DMQ6;Q5T024;Q96M02;Q96M02-2	.;.;.;CJ090_HUMAN;.	L	16;63;63;160;63;16;16	ENSP00000284694:S63L;ENSP00000398786:S63L;ENSP00000444369:S160L;ENSP00000405995:S63L;ENSP00000376459:S16L	ENSP00000284694:S63L	S	-	2	0	C10orf90	128183571	0.040000	0.19996	0.001000	0.08648	0.001000	0.01503	2.470000	0.45119	1.246000	0.43901	-0.219000	0.12488	TCA		0.463	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		29	43	0	0	0	1	0	29	43				
SEZ6L	23544	broad.mit.edu	37	22	26747060	26747060	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3DW-01A-11D-A19J-08	TCGA-ET-A3DW-11A-11D-A19J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ea30ba-e4f0-476f-bd25-737837e8341f	17f4ee11-2769-4265-ba87-f0e8b10b9a41	g.chr22:26747060G>A	ENST00000248933.6	+	12	2545	c.2450G>A	c.(2449-2451)cGc>cAc	p.R817H	SEZ6L_ENST00000529632.2_Missense_Mutation_p.R817H|SEZ6L_ENST00000404234.3_Missense_Mutation_p.R817H|SEZ6L_ENST00000411842.2_Missense_Mutation_p.R14H|SEZ6L_ENST00000343706.4_Missense_Mutation_p.R817H|SEZ6L_ENST00000402979.1_Missense_Mutation_p.R590H|SEZ6L_ENST00000403121.1_Missense_Mutation_p.R590H|SEZ6L_ENST00000360929.3_Intron			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	817	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CACTCGACCCGCTTAATTTCG	0.547																																						uc003acb.3																			0		p.R817C(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						c.(2449-2451)cGc>cAc		Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.							117.0	102.0	107.0					22																	26747060		2203	4300	6503	SO:0001583	missense	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26747060G>A	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.2450G>A	22.37:g.26747060G>A	ENSP00000248933:p.Arg817His					SEZ6L_uc003acd.3_Intron|SEZ6L_uc011akd.2_Missense_Mutation_p.R817H|SEZ6L_uc003ace.3_Missense_Mutation_p.R817H|SEZ6L_uc011akc.2_Missense_Mutation_p.R817H|SEZ6L_uc003acc.3_Missense_Mutation_p.R817H|SEZ6L_uc003acf.1_Missense_Mutation_p.R590H|SEZ6L_uc010gvc.1_Missense_Mutation_p.R590H|SEZ6L_uc011ake.2_Non-coding_Transcript	p.R817H	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN			11	2646	+			817			Sushi 4.		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	c.2450G>A	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	g	28.4	4.913610	0.92178	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979;ENST00000411842	T;T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12	4.54	4.54	0.55810	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.56097	D	0.000035	T	0.76183	0.3952	M	0.72118	2.19	0.54753	D	0.99998	D;D;D;D;D;D	0.59357	0.961;0.985;0.977;0.978;0.968;0.985	P;P;P;P;P;P	0.62298	0.757;0.9;0.833;0.79;0.828;0.9	T	0.79548	-0.1758	10	0.66056	D	0.02	.	16.5015	0.84257	0.0:0.0:1.0:0.0	.	817;817;590;817;817;817	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;B0QYG3;Q9BYH1	.;.;.;.;.;SE6L1_HUMAN	H	817;817;817;817;590;590;14	ENSP00000384772:R817H;ENSP00000437037:R817H;ENSP00000248933:R817H;ENSP00000342661:R817H;ENSP00000384838:R590H;ENSP00000384733:R590H;ENSP00000397274:R14H	ENSP00000248933:R817H	R	+	2	0	SEZ6L	25077060	1.000000	0.71417	0.995000	0.50966	0.697000	0.40408	8.815000	0.91973	2.381000	0.81170	0.539000	0.68188	CGC		0.547	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			28	46	0	0	0	1	0	28	46				
