#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
KAT6A	7994	broad.mit.edu	37	8	41790659	41790659	+	Silent	SNP	T	T	G			TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.|Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ggggagggggtgggggtggag	0.627																																						ENST00000396930.3																			0											c.(5077-5079)ccA>ccC		K(lysine) acetyltransferase 6A							16.0	18.0	18.0					8																	41790659		2196	4293	6489	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790659T>G	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5079A>C	8.37:g.41790659T>G						KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	5622	-			1693			Gln/Pro-rich.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.5079A>C	CCDS6124.1																																																																																				0.627	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		7	7	0	0	0	1	0	7	7				
DAGLB	221955	broad.mit.edu	37	7	6449551	6449551	+	Missense_Mutation	SNP	G	G	A	rs138713047	byFrequency	TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr7:6449551G>A	ENST00000297056.6	-	15	2105	c.1936C>T	c.(1936-1938)Cgg>Tgg	p.R646W	DAGLB_ENST00000425398.2_Missense_Mutation_p.R517W|DAGLB_ENST00000436575.1_Missense_Mutation_p.R605W	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	646					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.R646W(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		TCCAAGGCCCGCATCAGGATG	0.587													G|||	4	0.000798722	0.0	0.0014	5008	,	,		19416	0.0		0.003	False		,,,				2504	0.0					ENST00000297056.6																			1	Substitution - Missense(1)	p.R646W(1)	lung(1)	breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26						c.(1936-1938)Cgg>Tgg		diacylglycerol lipase, beta		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	118.0	112.0	114.0		1549,1936	-0.9	0.2	7	dbSNP_134	114	4,8596		0,4,4296	yes	missense,missense	DAGLB	NM_001142936.1,NM_139179.3	101,101	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging,probably-damaging	517/544,646/673	6449551	4,13002	2203	4300	6503	SO:0001583	missense	221955				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr7:6449551G>A	AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.1936C>T	7.37:g.6449551G>A	ENSP00000297056:p.Arg646Trp					DAGLB_ENST00000425398.2_Missense_Mutation_p.R517W|DAGLB_ENST00000436575.1_Missense_Mutation_p.R605W	p.R646W	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)	15	2105	-		Ovarian(82;0.232)	646					A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Missense_Mutation	SNP	ENST00000297056.6	37	c.1936C>T	CCDS5350.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	.	15.79	2.936977	0.52972	0.0	4.65E-4	ENSG00000164535	ENST00000297056;ENST00000425398;ENST00000436575	T;T;T	0.37584	1.19;1.19;1.19	5.79	-0.949	0.10376	.	0.310453	0.33005	N	0.005381	T	0.56688	0.2002	M	0.73598	2.24	0.24550	N	0.994027	D;D;D;D	0.89917	1.0;0.999;0.997;0.999	D;P;P;P	0.66847	0.947;0.739;0.65;0.798	T	0.61202	-0.7110	10	0.62326	D	0.03	-22.8734	17.4647	0.87629	0.0:0.0:0.6315:0.3685	.	517;460;646;343	B4DQU0;B4DQQ6;Q8NCG7;B3KRA0	.;.;DGLB_HUMAN;.	W	646;517;605	ENSP00000297056:R646W;ENSP00000391171:R517W;ENSP00000404785:R605W	ENSP00000297056:R646W	R	-	1	2	DAGLB	6416076	0.141000	0.22595	0.240000	0.24138	0.416000	0.31233	1.347000	0.33975	-0.397000	0.07691	-0.271000	0.10264	CGG		0.587	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2	NM_139179		4	117	0	0	0	1	0	4	117				
DNAH3	55567	broad.mit.edu	37	16	21073899	21073899	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr16:21073899C>A	ENST00000261383.3	-	25	3623	c.3624G>T	c.(3622-3624)aaG>aaT	p.K1208N	DNAH3_ENST00000415178.1_Missense_Mutation_p.K1208N	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1208	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TAAACTCAAGCTTGGCAATTC	0.448																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(3622-3624)aaG>aaT		dynein, axonemal, heavy chain 3							136.0	125.0	129.0					16																	21073899		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21073899C>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3624G>T	16.37:g.21073899C>A	ENSP00000261383:p.Lys1208Asn					DNAH3_ENST00000415178.1_Missense_Mutation_p.K1208N	p.K1208N	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	25	3623	-			1208			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.3624G>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568963	0.45798	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.61742	0.08;0.08	5.9	2.39	0.29439	Dynein heavy chain, domain-2 (1);	0.349593	0.28847	N	0.013949	T	0.66257	0.2771	M	0.66378	2.025	0.47441	D	0.999429	D	0.60575	0.988	P	0.58660	0.843	T	0.67126	-0.5749	10	0.56958	D	0.05	.	9.9295	0.41514	0.0:0.6198:0.0:0.3802	.	1208	Q8TD57	DYH3_HUMAN	N	1208	ENSP00000261383:K1208N;ENSP00000394245:K1208N	ENSP00000261383:K1208N	K	-	3	2	DNAH3	20981400	0.983000	0.35010	0.999000	0.59377	0.896000	0.52359	0.307000	0.19296	0.811000	0.34303	0.655000	0.94253	AAG		0.448	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		4	82	1	0	0.00024832	1	0.000258253	4	82				
ARNT2	9915	broad.mit.edu	37	15	80845028	80845028	+	Silent	SNP	C	C	A			TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr15:80845028C>A	ENST00000303329.4	+	10	1167	c.1002C>A	c.(1000-1002)ccC>ccA	p.P334P	ARNT2_ENST00000527771.1_Silent_p.P323P|RP11-379K22.2_ENST00000558208.1_RNA|ARNT2_ENST00000533983.1_Silent_p.P323P	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	334	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			TGTCGGTGCCCACAGAGTTCT	0.498																																						ENST00000533983.1																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35						c.(967-969)ccC>ccA		aryl-hydrocarbon receptor nuclear translocator 2							171.0	142.0	152.0					15																	80845028		2203	4300	6503	SO:0001819	synonymous_variant	9915				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr15:80845028C>A	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.1002C>A	15.37:g.80845028C>A						ARNT2_ENST00000527771.1_Silent_p.P323P|ARNT2_ENST00000303329.4_Silent_p.P334P	p.P323P			Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		11	1308	+			334			PAS 2.		B4DIS7|O15024|Q8IYC2	Silent	SNP	ENST00000303329.4	37	c.969C>A	CCDS32307.1																																																																																				0.498	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			4	91	1	0	0.00024832	1	0.000258253	4	91				
FRG1B	284802	broad.mit.edu	37	20	29614328	29614328	+	Splice_Site	SNP	G	G	A	rs200267032		TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr20:29614328G>A	ENST00000278882.3	+	2	320		c.e2+1		FRG1B_ENST00000358464.4_Splice_Site|FRG1B_ENST00000439954.2_Splice_Site			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGATACGTTGGTGAGTCAGTT	0.289																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.e2+1																																						SO:0001630	splice_region_variant	0							g.chr20:29614328G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.-61+1G>A	20.37:g.29614328G>A						FRG1B_ENST00000439954.2_Splice_Site|FRG1B_ENST00000358464.4_Splice_Site								2	320	+								C4AME5	Splice_Site	SNP	ENST00000278882.3	37																																																																																						0.289	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	Intron	3	34	0	0	0	1	0	3	34				
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C	rs369310197		TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					protein targeting to Golgi (GO:0000042)			p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373																																						ENST00000409886.3																			6	Substitution - Missense(6)	p.N756D(6)	endometrium(6)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2266-2268)Aac>Gac		RANBP2-like and GRIP domain containing 3							164.0	133.0	142.0					2																	107049681		692	1590	2282	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107049681T>C		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2266A>G	2.37:g.107049681T>C	ENSP00000386588:p.Asn756Asp					RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2353	-			756					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2266A>G	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481585	0.00163	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23754	1.89;1.89	2.34	2.34	0.29019	.	.	.	.	.	T	0.07638	0.0192	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	9	0.02654	T	1	-2.2547	7.1228	0.25454	0.0:0.8499:0.0:0.1501	.	756	A6NKT7	RGPD3_HUMAN	D	756;514;756	ENSP00000386588:N756D;ENSP00000303659:N756D	ENSP00000303659:N756D	N	-	1	0	RGPD3	106416113	0.974000	0.33945	0.242000	0.24170	0.003000	0.03518	4.107000	0.57811	0.325000	0.23359	-1.206000	0.01644	AAC		0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		5	285	0	0	0	1	0	5	285				
ERCC2	2068	broad.mit.edu	37	19	45855771	45855771	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr19:45855771G>A	ENST00000391945.4	-	21	2116	c.2039C>T	c.(2038-2040)gCc>gTc	p.A680V	ERCC2_ENST00000391944.3_Missense_Mutation_p.A602V	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	680					7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CACCTTGTCGGCAAAGACCAT	0.612			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000391945.4			yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	"""Mis, N, F, S"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9						c.(2038-2040)gCc>gTc	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 2							79.0	68.0	72.0					19																	45855771		2203	4300	6503	SO:0001583	missense	2068	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	g.chr19:45855771G>A		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.2039C>T	19.37:g.45855771G>A	ENSP00000375809:p.Ala680Val					ERCC2_ENST00000391944.3_Missense_Mutation_p.A602V	p.A680V	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	21	2116	-		Ovarian(192;0.0728)|all_neural(266;0.112)	680					Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	c.2039C>T	CCDS33049.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044794	0.75732	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944	D;D	0.91577	-2.87;-2.87	5.14	5.14	0.70334	Helicase, ATP-dependent, c2 type (1);	0.114408	0.64402	D	0.000018	D	0.92912	0.7745	L	0.41079	1.255	0.80722	D	1	D;D;D	0.89917	0.988;0.971;1.0	P;D;D	0.97110	0.836;0.951;1.0	D	0.93169	0.6564	10	0.52906	T	0.07	-16.7895	16.0952	0.81114	0.0:0.0:1.0:0.0	.	602;680;373	E7EVE9;P18074;Q6ZNQ5	.;ERCC2_HUMAN;.	V	630;656;680;602	ENSP00000375809:A680V;ENSP00000375808:A602V	ENSP00000375805:A630V	A	-	2	0	ERCC2	50547611	1.000000	0.71417	0.221000	0.23827	0.446000	0.32137	8.727000	0.91480	2.391000	0.81399	0.561000	0.74099	GCC		0.612	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	NM_000400		4	113	0	0	0	1	0	4	113				
HN1	51155	broad.mit.edu	37	17	73144759	73144759	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr17:73144759G>A	ENST00000409753.3	-	2	349	c.64C>T	c.(64-66)Cgg>Tgg	p.R22W	HN1_ENST00000581874.1_Missense_Mutation_p.R22W|HN1_ENST00000481647.1_5'UTR|RP11-649A18.4_ENST00000579554.1_RNA|HN1_ENST00000356033.4_Missense_Mutation_p.R22W|HN1_ENST00000465454.1_5'UTR|Y_RNA_ENST00000516233.1_RNA|HN1_ENST00000482348.1_5'UTR|HN1_ENST00000392566.2_5'UTR|HN1_ENST00000405458.3_5'UTR|HN1_ENST00000470924.1_5'UTR|HN1_ENST00000476258.1_5'UTR	NM_016185.2	NP_057269.1	Q9UK76	HN1_HUMAN	hematological and neurological expressed 1	22					developmental process (GO:0032502)	nucleus (GO:0005634)			HN1/USH1G(2)	breast(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)					CCTGGAGGCCGCAAAACTCTG	0.393																																						ENST00000409753.3																		HN1/USH1G(2)	0				breast(1)	1						c.(64-66)Cgg>Tgg		hematological and neurological expressed 1							65.0	59.0	61.0					17																	73144759		2203	4300	6503	SO:0001583	missense	51155					nucleus		g.chr17:73144759G>A	AF086910	CCDS32729.1, CCDS45771.1, CCDS45772.1	17q25.1	2013-09-20			ENSG00000189159	ENSG00000189159			14569	protein-coding gene	gene with protein product	"""androgen-regulated protein 2"""					15094197	Standard	NM_001002032		Approved	ARM2, HN1A	uc002jnb.1	Q9UK76	OTTHUMG00000154521	ENST00000409753.3:c.64C>T	17.37:g.73144759G>A	ENSP00000387059:p.Arg22Trp					HN1_ENST00000581874.1_Missense_Mutation_p.R22W|HN1_ENST00000481647.1_5'UTR|HN1_ENST00000470924.1_5'UTR|HN1_ENST00000405458.3_5'UTR|HN1_ENST00000482348.1_5'UTR|HN1_ENST00000356033.4_Missense_Mutation_p.R22W|HN1_ENST00000392566.2_5'UTR|HN1_ENST00000465454.1_5'UTR|HN1_ENST00000476258.1_5'UTR	p.R22W	NM_016185.2	NP_057269.1	Q9UK76	HN1_HUMAN			2	349	-	all_lung(278;0.14)|Lung NSC(278;0.168)		22					B2R6K3|Q53FG7|Q7Z2D2|Q7Z2F0	Missense_Mutation	SNP	ENST00000409753.3	37	c.64C>T	CCDS45771.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.702560	0.30232	.	.	ENSG00000189159	ENST00000409753;ENST00000356033;ENST00000409135	.	.	.	4.55	3.53	0.40419	.	0.000000	0.85682	D	0.000000	T	0.75221	0.3820	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	P;D;D	0.68483	0.736;0.958;0.941	T	0.77720	-0.2482	9	0.87932	D	0	-27.1706	9.6699	0.40006	0.0:0.1517:0.6916:0.1568	.	22;22;22	B8ZZT7;Q9UK76-2;Q9UK76	.;.;HN1_HUMAN	W	22	.	ENSP00000348316:R22W	R	-	1	2	HN1	70656354	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.275000	0.51639	2.364000	0.80123	0.563000	0.77884	CGG		0.393	HN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000335692.1	NM_001002032		3	33	0	0	0	1	0	3	33				
FLYWCH1	84256	broad.mit.edu	37	16	2983818	2983818	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr16:2983818A>C	ENST00000253928.9	+	6	1756	c.1351A>C	c.(1351-1353)Acc>Ccc	p.T451P	FLYWCH1_ENST00000399667.2_Missense_Mutation_p.T451P|FLYWCH1_ENST00000416288.2_Missense_Mutation_p.T450P			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	451						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|lung(3)	4						GGTGTATTGGACCTGCCGGGA	0.692																																						ENST00000399667.2																			0				kidney(1)|lung(3)	4						c.(1351-1353)Acc>Ccc		FLYWCH-type zinc finger 1							14.0	19.0	17.0					16																	2983818		1914	4090	6004	SO:0001583	missense	84256					nucleus	DNA binding|metal ion binding	g.chr16:2983818A>C	AL136585	CCDS45390.1	16p13.3	2013-01-10	2007-06-21	2007-06-21	ENSG00000059122	ENSG00000059122		"""Zinc fingers"""	25404	protein-coding gene	gene with protein product						11230166, 10997877	Standard	XM_006720959		Approved	DKFZp761A132	uc002csc.3	Q4VC44		ENST00000253928.9:c.1351A>C	16.37:g.2983818A>C	ENSP00000253928:p.Thr451Pro					FLYWCH1_ENST00000416288.2_Missense_Mutation_p.T450P|FLYWCH1_ENST00000253928.9_Missense_Mutation_p.T451P	p.T451P			Q4VC44	FWCH1_HUMAN			6	1714	+			451					D3DUA1|Q6ZSQ1|Q8WV62|Q9BQG6|Q9BUS5|Q9HCM0	Missense_Mutation	SNP	ENST00000253928.9	37	c.1351A>C		.	.	.	.	.	.	.	.	.	.	A	13.64	2.298727	0.40694	.	.	ENSG00000059122	ENST00000399667;ENST00000253928;ENST00000416288	.	.	.	3.64	3.64	0.41730	Zinc finger, FLYWCH-type (1);	.	.	.	.	T	0.56514	0.1990	L	0.40543	1.245	0.30391	N	0.78095	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.87578	0.996;0.992;0.998	T	0.53704	-0.8401	8	0.54805	T	0.06	.	8.9563	0.35820	1.0:0.0:0.0:0.0	.	451;451;450	Q4VC44-3;Q4VC44;Q4VC44-2	.;FWCH1_HUMAN;.	P	451;451;450	.	ENSP00000253928:T451P	T	+	1	0	FLYWCH1	2923819	0.982000	0.34865	0.998000	0.56505	0.220000	0.24768	2.685000	0.46959	1.884000	0.54569	0.379000	0.24179	ACC		0.692	FLYWCH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000436479.1	NM_032296		4	12	0	0	0	1	0	4	12				
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632																																						ENST00000361883.5																			11	Substitution - Missense(11)	p.I88T(11)	lung(7)|kidney(1)|prostate(1)|endometrium(1)|central_nervous_system(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17						c.(262-264)aTc>aCc		keratin associated protein 1-5							26.0	30.0	28.0					17																	39183145		2054	4217	6271	SO:0001583	missense	83895					keratin filament		g.chr17:39183145A>G	AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"""Keratin associated proteins"""	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.263T>C	17.37:g.39183145A>G	ENSP00000355302:p.Ile88Thr						p.I88T	NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	309	-		Breast(137;0.00043)	88			15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].		A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Missense_Mutation	SNP	ENST00000361883.5	37	c.263T>C	CCDS42321.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.877501	0.00061	.	.	ENSG00000221852	ENST00000361883;ENST00000543389	T	0.25579	1.79	2.87	0.645	0.17782	.	.	.	.	.	T	0.03178	0.0093	N	0.00055	-2.375	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38650	-0.9651	9	0.05721	T	0.95	.	2.2484	0.04037	0.117:0.3609:0.3383:0.1838	.	88	Q9BYS1	KRA15_HUMAN	T	88;78	ENSP00000355302:I88T	ENSP00000355302:I88T	I	-	2	0	KRTAP1-5	36436671	0.730000	0.28100	0.005000	0.12908	0.023000	0.10783	0.636000	0.24644	-0.052000	0.13311	-0.215000	0.12644	ATC		0.632	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257691.1			4	60	0	0	0	1	0	4	60				
SCRN1	9805	broad.mit.edu	37	7	29983623	29983623	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr7:29983623C>A	ENST00000426154.1	-	4	690	c.514G>T	c.(514-516)Ggg>Tgg	p.G172W	SCRN1_ENST00000494620.1_5'Flank|SCRN1_ENST00000434476.2_Missense_Mutation_p.G192W|SCRN1_ENST00000409497.1_Missense_Mutation_p.G172W|SCRN1_ENST00000416113.2_Missense_Mutation_p.G63W|SCRN1_ENST00000425819.2_Missense_Mutation_p.G104W|SCRN1_ENST00000242059.5_Missense_Mutation_p.G172W	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	172					exocytosis (GO:0006887)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	dipeptidase activity (GO:0016805)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						CAGTACTTCCCTATGGTCTCG	0.527																																						ENST00000426154.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						c.(514-516)Ggg>Tgg		secernin 1							159.0	132.0	141.0					7																	29983623		2203	4300	6503	SO:0001583	missense	9805				exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity	g.chr7:29983623C>A	D83777	CCDS5422.1, CCDS47567.1, CCDS47568.1	7p14.3-p14.1	2006-09-06			ENSG00000136193	ENSG00000136193			22192	protein-coding gene	gene with protein product		614965				12221138	Standard	NM_014766		Approved	KIAA0193	uc011kaa.2	Q12765	OTTHUMG00000097093	ENST00000426154.1:c.514G>T	7.37:g.29983623C>A	ENSP00000409068:p.Gly172Trp					SCRN1_ENST00000409497.1_Missense_Mutation_p.G172W|SCRN1_ENST00000416113.2_Missense_Mutation_p.G63W|SCRN1_ENST00000242059.5_Missense_Mutation_p.G172W	p.G172W	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN			4	690	-			172					A8K0E9|B4DHM0|B4DIP5|C9JPG0|Q25QX7|Q8IWD1	Missense_Mutation	SNP	ENST00000426154.1	37	c.514G>T	CCDS5422.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.813348	0.90707	.	.	ENSG00000136193	ENST00000242059;ENST00000426154;ENST00000425819;ENST00000409497;ENST00000416113;ENST00000434476;ENST00000421434	T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;2.16;-0.13;-0.13	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000001	D	0.86477	0.5942	H	0.96430	3.82	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.90095	0.4180	9	.	.	.	-16.4932	18.6916	0.91585	0.0:1.0:0.0:0.0	.	192;104;172	C9JPG0;B4DIP5;Q12765	.;.;SCRN1_HUMAN	W	172;172;104;172;63;192;172	ENSP00000242059:G172W;ENSP00000409068:G172W;ENSP00000414245:G104W;ENSP00000386872:G172W;ENSP00000407460:G63W;ENSP00000388942:G192W;ENSP00000413184:G172W	.	G	-	1	0	SCRN1	29950148	1.000000	0.71417	0.965000	0.40720	0.812000	0.45895	7.818000	0.86416	2.768000	0.95171	0.561000	0.74099	GGG		0.527	SCRN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214231.2	NM_014766		4	111	1	0	2.56e-06	1	2.89391e-06	4	111				
MAP10	54627	broad.mit.edu	37	1	232941067	232941067	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr1:232941067G>A	ENST00000418460.1	+	1	425	c.298G>A	c.(298-300)Gct>Act	p.A100T		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	0					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)										CCCGAGACCCGCTGGAGCGCT	0.562																																						ENST00000418460.1																			0											c.(298-300)Gct>Act		microtubule-associated protein 10							48.0	52.0	50.0					1																	232941067		1949	4151	6100	SO:0001583	missense	54627							g.chr1:232941067G>A	AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"""microtubule regulator 120 KDa"""		"""KIAA1383"""	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.298G>A	1.37:g.232941067G>A	ENSP00000403208:p.Ala100Thr						p.A100T	NM_019090.2	NP_061963.2					1	425	+								A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	ENST00000418460.1	37	c.298G>A	CCDS44334.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.931029	0.52866	.	.	ENSG00000212916	ENST00000418460	.	.	.	1.95	-1.9	0.07665	.	.	.	.	.	T	0.33000	0.0848	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34875	-0.9811	5	0.48119	T	0.1	.	4.6413	0.12550	0.1662:0.5122:0.3217:0.0	.	.	.	.	T	100	.	ENSP00000403208:A100T	A	+	1	0	KIAA1383	231007690	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.314000	0.01125	-0.446000	0.07149	0.313000	0.20887	GCT		0.562	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	NM_019090		5	94	0	0	0	1	0	5	94				
LRFN3	79414	broad.mit.edu	37	19	36430512	36430512	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr19:36430512C>A	ENST00000588831.1	+	3	1239	c.185C>A	c.(184-186)gCc>gAc	p.A62D	LRFN3_ENST00000246529.3_Missense_Mutation_p.A62D			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	62					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CGCCGGGCAGCCGAGCTGCGG	0.701																																						ENST00000588831.1																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(184-186)gCc>gAc		leucine rich repeat and fibronectin type III domain containing 3							13.0	15.0	14.0					19																	36430512		2136	4169	6305	SO:0001583	missense	79414				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane		g.chr19:36430512C>A	BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28370	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 1"""	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.185C>A	19.37:g.36430512C>A	ENSP00000466989:p.Ala62Asp					LRFN3_ENST00000246529.3_Missense_Mutation_p.A62D	p.A62D			Q9BTN0	LRFN3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		3	1239	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		62					Q6UY10	Missense_Mutation	SNP	ENST00000588831.1	37	c.185C>A	CCDS12483.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.057702	0.55325	.	.	ENSG00000126243	ENST00000246529	T	0.52526	0.66	4.62	4.62	0.57501	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.36482	N	0.002580	T	0.57651	0.2068	L	0.55017	1.72	0.40546	D	0.981071	D	0.64830	0.994	D	0.66847	0.947	T	0.55976	-0.8055	10	0.33940	T	0.23	.	9.0757	0.36519	0.0:0.8985:0.0:0.1015	.	62	Q9BTN0	LRFN3_HUMAN	D	62	ENSP00000246529:A62D	ENSP00000246529:A62D	A	+	2	0	LRFN3	41122352	0.009000	0.17119	0.981000	0.43875	0.931000	0.56810	0.142000	0.16096	2.305000	0.77605	0.557000	0.71058	GCC		0.701	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2	NM_024509		4	64	1	0	1	1	1	4	64				
CNTNAP3B	728577	broad.mit.edu	37	9	43915893	43915893	+	Missense_Mutation	SNP	G	G	C	rs62538181|rs200215881		TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr9:43915893G>C	ENST00000377564.3	+	23	4134	c.3741G>C	c.(3739-3741)atG>atC	p.M1247I		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	1247					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CTGCTGTCATGGGAGGTAACA	0.433																																						ENST00000377564.3																			0				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						c.(3739-3741)atG>atC		contactin associated protein-like 3B																																				SO:0001583	missense	728577				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr9:43915893G>C	BX538190	CCDS75836.1	9p12	2007-12-14			ENSG00000154529	ENSG00000154529			32035	protein-coding gene	gene with protein product						15820314	Standard	XM_006716853		Approved		uc004abr.1	Q96NU0	OTTHUMG00000013174	ENST00000377564.3:c.3741G>C	9.37:g.43915893G>C	ENSP00000366787:p.Met1247Ile						p.M1247I	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN			23	4134	+			1247					B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3	Missense_Mutation	SNP	ENST00000377564.3	37	c.3741G>C	CCDS55312.1	.	.	.	.	.	.	.	.	.	.	C	1.267	-0.614036	0.03690	.	.	ENSG00000154529	ENST00000377564;ENST00000377555	T	0.23552	1.9	2.87	-2.82	0.05787	.	.	.	.	.	T	0.03053	0.0090	N	0.00018	-2.82	0.09310	P	0.9999999999977237	B	0.02656	0.0	B	0.01281	0.0	T	0.44267	-0.9339	8	0.11794	T	0.64	.	7.2283	0.26028	0.0:0.1691:0.1448:0.6861	.	161	E9PBG0	.	I	1247;161	ENSP00000366787:M1247I	ENSP00000366778:M161I	M	+	3	0	CNTNAP3B	43855889	0.990000	0.36364	0.901000	0.35422	0.347000	0.29111	0.022000	0.13511	-1.052000	0.03222	-2.091000	0.00372	ATG		0.433	CNTNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036930.3			4	33	0	0	0	1	0	4	33				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	47	0	0	0	1	0	3	47				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	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)	ENST00000288602.6	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(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)	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		v-raf murine sarcoma viral oncogene homolog B	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_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	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		5	59	0	0	0	1	0	5	59				
RP11-739N20.2	0	broad.mit.edu	37	1	204363980	204363980	+	RNA	DEL	A	A	-			TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr1:204363980delA	ENST00000443515.1	+	0	146																											tttgtttttcaaaaaaaaaaa	0.308																																						ENST00000443515.1																			0																																																			0							g.chr1:204363980delA																													1.37:g.204363980delA														0	146	+									RNA	DEL	ENST00000443515.1	37																																																																																						0.308	RP11-739N20.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000087972.1			4	6						4	6	---	---	---	---
STK19	8859	broad.mit.edu	37	6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr6:31939829_31939830insA	ENST00000375333.2	+	1	109_110	c.56_57insA	c.(55-60)gcaaacfs	p.N20fs	DXO_ENST00000375349.3_5'UTR|DXO_ENST00000478221.1_5'UTR|DXO_ENST00000375356.3_5'Flank|STK19_ENST00000375331.2_Frame_Shift_Ins_p.N20fs|DXO_ENST00000337523.5_5'UTR	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	20					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(55-57)gaafs		serine/threonine kinase 19																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939829_31939830insA	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.59dupA	6.37:g.31939832_31939832dupA	ENSP00000364482:p.Asn20fs					DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs|DOM3Z_ENST00000375349.3_5'UTR	p.E19fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			1	222_223	+			19					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.56_57insA	CCDS4733.1																																																																																				0.634	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			10	207						10	207	---	---	---	---
CCT6P1	643253	broad.mit.edu	37	7	65222951	65222951	+	RNA	DEL	T	T	-	rs564902644	byFrequency	TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr7:65222951delT	ENST00000442266.1	+	0	561				SNORA15_ENST00000384058.1_RNA|SNORA22_ENST00000383907.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		TTTCTGTAACTTTTTTTTTTT	0.323													|||unknown(NO_COVERAGE)	42	0.00838658	0.0159	0.0014	5008	,	,		17660	0.004		0.005	False		,,,				2504	0.0112					ENST00000442266.1																			0																																																			0							g.chr7:65222951delT	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65222951delT														0	561	+									RNA	DEL	ENST00000442266.1	37																																																																																						0.323	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		4	8						4	8	---	---	---	---
RNF126	55658	broad.mit.edu	37	19	649708	649708	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr19:649708delC	ENST00000292363.5	-	6	702	c.547delG	c.(547-549)gccfs	p.A183fs		NM_194460.2	NP_919442.1			ring finger protein 126											lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		AGGCCGTTGGCCCCCCAGGCG	0.672																																						ENST00000292363.5																			0				lung(1)	1						c.(547-549)ccfs		ring finger protein 126							87.0	61.0	70.0					19																	649708		2194	4287	6481	SO:0001589	frameshift_variant	55658						protein binding|zinc ion binding	g.chr19:649708delC	BC025374	CCDS12039.1	19p13.3	2013-01-09				ENSG00000070423		"""RING-type (C3HC4) zinc fingers"""	21151	protein-coding gene	gene with protein product		615177					Standard	NM_194460		Approved	FLJ20552	uc010drs.3	Q9BV68		ENST00000292363.5:c.547delG	19.37:g.649708delC	ENSP00000292363:p.Ala183fs						p.A183fs	NM_194460.2	NP_919442.1	Q9BV68	RN126_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)	6	702	-		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	183						Frame_Shift_Del	DEL	ENST00000292363.5	37	c.547delG	CCDS12039.1																																																																																				0.672	RNF126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452104.2	NM_017876		4	7						4	7	---	---	---	---
