#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
RTN2	6253	broad.mit.edu	37	19	45998115	45998115	+	Silent	SNP	C	C	G			TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr19:45998115C>G	ENST00000245923.4	-	3	463	c.228G>C	c.(226-228)ggG>ggC	p.G76G	PPM1N_ENST00000396737.2_5'Flank|PPM1N_ENST00000456399.2_5'Flank|RTN2_ENST00000590526.1_5'UTR|RTN2_ENST00000344680.4_Silent_p.G76G|RTN2_ENST00000589384.1_5'UTR|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000430715.2_5'Flank	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	76					cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		CCCTGCGGCCCCCGGAGCCCA	0.687																																						ENST00000245923.4																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20						c.(226-228)ggG>ggC		reticulon 2							18.0	23.0	21.0					19																	45998115		2202	4299	6501	SO:0001819	synonymous_variant	6253					integral to endoplasmic reticulum membrane	signal transducer activity	g.chr19:45998115C>G	AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"""NSP-like protein 1"", ""Neuroendocrine-specific protein-like 1"""	603183	"""spastic paraplegia 12 (autosomal dominant)"""	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.228G>C	19.37:g.45998115C>G						RTN2_ENST00000589384.1_5'UTR|RTN2_ENST00000590526.1_5'UTR|RTN2_ENST00000344680.4_Silent_p.G76G|PPM1N_ENST00000401705.1_Intron	p.G76G	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)	3	463	-		Ovarian(192;0.051)|all_neural(266;0.112)	76					O60509|Q7RTM6|Q7RTN1|Q7RTN2	Silent	SNP	ENST00000245923.4	37	c.228G>C	CCDS12665.1																																																																																				0.687	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	NM_005619		13	20	0	0	0	1	0	13	20				
HSF5	124535	broad.mit.edu	37	17	56557351	56557351	+	Silent	SNP	T	T	C			TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr17:56557351T>C	ENST00000323777.3	-	2	937	c.828A>G	c.(826-828)gtA>gtG	p.V276V		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	276					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTTGAACATGTACAGATGTGG	0.468																																						ENST00000323777.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16						c.(826-828)gtA>gtG		heat shock transcription factor family member 5							272.0	237.0	249.0					17																	56557351		2203	4300	6503	SO:0001819	synonymous_variant	124535					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:56557351T>C	BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.828A>G	17.37:g.56557351T>C							p.V276V	NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN			2	937	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		276					Q08EH7|Q8N7V2	Silent	SNP	ENST00000323777.3	37	c.828A>G	CCDS32690.1																																																																																				0.468	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1	XM_064190		37	60	0	0	0	1	0	37	60				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			0							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			5	13	0	0	0	1	0	5	13				
DEAF1	10522	broad.mit.edu	37	11	694809	694809	+	Missense_Mutation	SNP	G	G	C			TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr11:694809G>C	ENST00000382409.3	-	1	723	c.239C>G	c.(238-240)gCc>gGc	p.A80G	TMEM80_ENST00000608174.1_5'Flank|TMEM80_ENST00000397512.3_5'Flank|TMEM80_ENST00000397510.3_5'Flank|DEAF1_ENST00000338675.6_Missense_Mutation_p.A80G	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	80	Ala-rich.				anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		CAGGGCCTCGGCGCCCATGTC	0.771																																						ENST00000382409.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(238-240)gCc>gGc		DEAF1 transcription factor							4.0	4.0	4.0					11																	694809		2032	3894	5926	SO:0001583	missense	10522				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding	g.chr11:694809G>C	AF049460	CCDS31327.1	11p15.5	2013-01-10	2013-01-10		ENSG00000177030	ENSG00000177030		"""Zinc fingers, MYND-type"""	14677	protein-coding gene	gene with protein product		602635	"""deformed epidermal autoregulatory factor 1 (Drosophila)"""			9773984	Standard	XR_428838		Approved	NUDR, SPN, ZMYND5	uc001lqq.1	O75398	OTTHUMG00000165363	ENST00000382409.3:c.239C>G	11.37:g.694809G>C	ENSP00000371846:p.Ala80Gly					DEAF1_ENST00000338675.6_Missense_Mutation_p.A80G	p.A80G	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)	1	723	-		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	80			Ala-rich.		A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Missense_Mutation	SNP	ENST00000382409.3	37	c.239C>G	CCDS31327.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.800416	0.50315	.	.	ENSG00000177030	ENST00000382409;ENST00000338675;ENST00000359958;ENST00000388804	T	0.72051	-0.62	2.64	2.64	0.31445	.	0.166245	0.39909	U	0.001231	T	0.53110	0.1776	N	0.24115	0.695	0.80722	D	1	B	0.23316	0.083	B	0.17979	0.02	T	0.50833	-0.8781	10	0.33141	T	0.24	-7.2059	10.9673	0.47421	0.0:0.0:1.0:0.0	.	80	O75398	DEAF1_HUMAN	G	80;80;66;3	ENSP00000371846:A80G	ENSP00000341902:A80G	A	-	2	0	DEAF1	684809	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.674000	0.83992	1.426000	0.47256	0.449000	0.29647	GCC		0.771	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383614.3	NM_021008		4	1	0	0	0	1	0	4	1				
MUTYH	4595	broad.mit.edu	37	1	45797891	45797891	+	Missense_Mutation	SNP	G	G	A	rs199840380		TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr1:45797891G>A	ENST00000372098.3	-	10	1004	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C	MUTYH_ENST00000372104.1_Missense_Mutation_p.R266C|MUTYH_ENST00000528332.2_Intron|MUTYH_ENST00000354383.6_Missense_Mutation_p.R267C|MUTYH_ENST00000355498.2_Missense_Mutation_p.R266C|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000448481.1_Missense_Mutation_p.R277C|MUTYH_ENST00000372115.3_Missense_Mutation_p.R280C|MUTYH_ENST00000372110.3_Missense_Mutation_p.R281C|MUTYH_ENST00000528013.2_Missense_Mutation_p.R280C|MUTYH_ENST00000456914.2_Missense_Mutation_p.R266C|MUTYH_ENST00000488731.2_Intron|MUTYH_ENST00000372100.5_Missense_Mutation_p.R277C|MUTYH_ENST00000529984.1_Intron|MUTYH_ENST00000450313.1_Missense_Mutation_p.R294C			Q9UIF7	MUTYH_HUMAN	mutY homolog	291					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA repair (GO:0006281)|mismatch repair (GO:0006298)	mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|metal ion binding (GO:0046872)|MutSalpha complex binding (GO:0032407)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CACAGTGGGCGCTGTGGGGTA	0.617			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																													ENST00000450313.1			yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	Mis	mutY homolog (E. coli)			E		colorectal			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19						c.(880-882)Cgc>Tgc	Base excision repair (BER), DNA glycosylases	mutY homolog							42.0	44.0	43.0					1																	45797891		2203	4300	6503	SO:0001583	missense	4595	MUTYH-associated polyposis	Familial Cancer Database	MAP, MYH-associated polyposis	depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding	g.chr1:45797891G>A	U63329	CCDS520.1, CCDS41320.1, CCDS41321.1, CCDS41322.1, CCDS72776.1, CCDS72777.1	1p34.1	2014-09-17	2013-09-12		ENSG00000132781	ENSG00000132781			7527	protein-coding gene	gene with protein product		604933	"""mutY (E. coli) homolog"", ""mutY homolog (E. coli)"""			7823963, 10684930	Standard	NM_012222		Approved	MYH	uc009vxp.3	Q9UIF7	OTTHUMG00000007682	ENST00000372098.3:c.871C>T	1.37:g.45797891G>A	ENSP00000361170:p.Arg291Cys					MUTYH_ENST00000528332.2_Intron|MUTYH_ENST00000354383.6_Missense_Mutation_p.R267C|MUTYH_ENST00000355498.2_Missense_Mutation_p.R266C|MUTYH_ENST00000372110.3_Missense_Mutation_p.R281C|MUTYH_ENST00000448481.1_Missense_Mutation_p.R277C|MUTYH_ENST00000372115.3_Missense_Mutation_p.R280C|MUTYH_ENST00000456914.2_Missense_Mutation_p.R266C|MUTYH_ENST00000372100.5_Missense_Mutation_p.R277C|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000372098.3_Missense_Mutation_p.R291C|MUTYH_ENST00000529984.1_Intron|MUTYH_ENST00000488731.2_Intron|MUTYH_ENST00000372104.1_Missense_Mutation_p.R266C	p.R294C	NM_001128425.1|NM_012222.2	NP_001121897.1|NP_036354.1	Q9UIF7	MUTYH_HUMAN			10	1095	-	Acute lymphoblastic leukemia(166;0.155)		291					D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Missense_Mutation	SNP	ENST00000372098.3	37	c.880C>T	CCDS520.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.105254	0.56291	.	.	ENSG00000132781	ENST00000372104;ENST00000448481;ENST00000456914;ENST00000354383;ENST00000355498;ENST00000372098;ENST00000372110;ENST00000372115;ENST00000450313;ENST00000372100;ENST00000525481;ENST00000412971;ENST00000435155	D;D;D;D;D;D;D;D;D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15;-3.15;-3.15;-3.15;-3.15;-3.15;-3.15;-3.15;-3.15	5.51	3.44	0.39384	DNA glycosylase (1);Endonuclease III-like, iron-sulphur cluster loop motif (1);Helix-turn-helix, base-excision DNA repair, C-terminal (1);	0.670978	0.16349	N	0.218301	D	0.93762	0.8006	M	0.87547	2.89	0.40448	D	0.980111	D;D;D;D;D;D;D	0.64830	0.978;0.994;0.987;0.994;0.978;0.99;0.962	P;P;P;P;P;B;P	0.50791	0.448;0.448;0.65;0.448;0.448;0.33;0.448	D	0.93136	0.6537	10	0.62326	D	0.03	-10.1322	2.5822	0.04821	0.0901:0.2099:0.3383:0.3617	.	294;291;281;291;280;174;267	E5KP25;E5KP26;Q9UIF7-2;Q9UIF7;E5KP27;D3DPZ6;E5KP28	.;.;.;MUTYH_HUMAN;.;.;.	C	266;277;266;267;266;291;281;280;294;277;138;138;277	ENSP00000361176:R266C;ENSP00000409718:R277C;ENSP00000407590:R266C;ENSP00000346354:R267C;ENSP00000347685:R266C;ENSP00000361170:R291C;ENSP00000361182:R281C;ENSP00000361187:R280C;ENSP00000408176:R294C;ENSP00000361172:R277C;ENSP00000410263:R138C;ENSP00000403655:R277C	ENSP00000346354:R267C	R	-	1	0	MUTYH	45570478	0.780000	0.28664	1.000000	0.80357	0.934000	0.57294	0.914000	0.28624	2.586000	0.87340	0.563000	0.77884	CGC		0.617	MUTYH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020529.1	NM_012222		3	36	0	0	0	1	0	3	36				
MT-CO1	4512	broad.mit.edu	37	M	3244	3244	+	5'Flank	SNP	G	G	A			TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chrM:3244G>A	ENST00000361624.2	+	0	0				MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-ND2_ENST00000361453.3_5'Flank|MT-TC_ENST00000387405.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I						aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						aagatggcagagcccggtaat	0.438																																						ENST00000386347.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chrM:3244G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395			M.37:g.3244G>A	Exception_encountered													0	15	+								Q34770	RNA	SNP	ENST00000361624.2	37																																																																																						0.438	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024028		7	1	0	0	0	1	0	7	1				
ZNF580	51157	broad.mit.edu	37	19	56153895	56153895	+	Silent	SNP	G	G	A			TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr19:56153895G>A	ENST00000543039.1	+	1	478	c.21G>A	c.(19-21)cgG>cgA	p.R7R	ZNF581_ENST00000270451.5_5'Flank|ZNF581_ENST00000587252.1_Intron|ZNF580_ENST00000545125.1_Silent_p.R7R|ZNF580_ENST00000325333.5_Silent_p.R7R|ZNF581_ENST00000588537.1_5'Flank	NM_016202.2	NP_057286.1	Q9UK33	ZN580_HUMAN	zinc finger protein 580	7	Pro-rich.				cellular response to hydrogen peroxide (GO:0070301)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte chemotaxis (GO:0002690)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			lung(1)|upper_aerodigestive_tract(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		TGCCGCCGCGGCCACCCCACC	0.627																																						ENST00000543039.1																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(19-21)cgG>cgA		zinc finger protein 580							14.0	17.0	16.0					19																	56153895		1796	3773	5569	SO:0001819	synonymous_variant	51157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56153895G>A	AF184939	CCDS12931.1	19q13.42	2013-09-20			ENSG00000213015	ENSG00000213015		"""Zinc fingers, C2H2-type"""	29473	protein-coding gene	gene with protein product						12477932	Standard	NM_001163423		Approved		uc002qlo.3	Q9UK33	OTTHUMG00000180868	ENST00000543039.1:c.21G>A	19.37:g.56153895G>A						ZNF581_ENST00000587252.1_Intron|ZNF580_ENST00000545125.1_Silent_p.R7R|ZNF580_ENST00000325333.5_Silent_p.R7R	p.R7R	NM_016202.2	NP_057286.1	Q9UK33	ZN580_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)	1	478	+			7			Pro-rich.		B2RC05|Q9NPP7	Silent	SNP	ENST00000543039.1	37	c.21G>A	CCDS12931.1																																																																																				0.627	ZNF580-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453428.1	NM_016202		3	17	0	0	0	1	0	3	17				
DISP1	84976	broad.mit.edu	37	1	223176363	223176363	+	Missense_Mutation	SNP	T	T	G			TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr1:223176363T>G	ENST00000284476.6	+	8	1788	c.1624T>G	c.(1624-1626)Tcc>Gcc	p.S542A		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	542	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TTTGATTGTTTCCTATTTTCT	0.353																																						ENST00000284476.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(1624-1626)Tcc>Gcc		dispatched homolog 1 (Drosophila)							145.0	136.0	139.0					1																	223176363		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223176363T>G	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.1624T>G	1.37:g.223176363T>G	ENSP00000284476:p.Ser542Ala						p.S542A	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	1788	+			542			SSD.		Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.1624T>G	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	T	8.358	0.832427	0.16820	.	.	ENSG00000154309	ENST00000284476	D	0.86366	-2.11	5.84	5.84	0.93424	Sterol-sensing domain (1);	0.046301	0.85682	D	0.000000	T	0.74160	0.3680	N	0.04148	-0.265	0.54753	D	0.999989	P	0.39782	0.688	B	0.40444	0.329	T	0.75150	-0.3419	10	0.08837	T	0.75	-47.4513	16.2087	0.82144	0.0:0.0:0.0:1.0	.	542	Q96F81	DISP1_HUMAN	A	542	ENSP00000284476:S542A	ENSP00000284476:S542A	S	+	1	0	DISP1	221242986	1.000000	0.71417	0.940000	0.37924	0.995000	0.86356	5.021000	0.64072	2.233000	0.73108	0.482000	0.46254	TCC		0.353	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		21	43	0	0	0	1	0	21	43				
BNC2	54796	broad.mit.edu	37	9	16435992	16435992	+	Missense_Mutation	SNP	C	C	A			TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr9:16435992C>A	ENST00000380672.4	-	6	2257	c.2200G>T	c.(2200-2202)Ggc>Tgc	p.G734C	BNC2_ENST00000380666.2_Missense_Mutation_p.G734C|BNC2_ENST00000545497.1_Missense_Mutation_p.G639C|BNC2_ENST00000380667.2_Missense_Mutation_p.G667C	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GATTCCTCGCCCAGTTTGGGC	0.512																																						ENST00000380672.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(2200-2202)Ggc>Tgc		basonuclin 2							103.0	91.0	95.0					9																	16435992		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16435992C>A	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.2200G>T	9.37:g.16435992C>A	ENSP00000370047:p.Gly734Cys					BNC2_ENST00000545497.1_Missense_Mutation_p.G639C|BNC2_ENST00000380666.2_Missense_Mutation_p.G734C|BNC2_ENST00000380667.2_Missense_Mutation_p.G667C	p.G734C	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	6	2257	-			734						Missense_Mutation	SNP	ENST00000380672.4	37	c.2200G>T	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	C	6.388	0.439681	0.12104	.	.	ENSG00000173068	ENST00000380672;ENST00000411752;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T;T	0.44881	1.53;0.91;1.52;1.54;1.54;1.51	5.56	4.59	0.56863	.	0.098588	0.64402	D	0.000001	T	0.17874	0.0429	N	0.01576	-0.805	0.40918	D	0.984286	B;B;B;B;B;B;B;B;B	0.06786	0.0;0.0;0.001;0.001;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B	0.04013	0.0;0.0;0.001;0.001;0.0;0.0;0.0;0.0;0.0	T	0.07751	-1.0756	10	0.52906	T	0.07	-13.3074	11.1116	0.48237	0.4082:0.5918:0.0:0.0	.	639;667;734;560;734;691;734;639;499	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	C	734;127;691;667;639;560;734;734	ENSP00000370047:G734C;ENSP00000392212:G127C;ENSP00000408370:G691C;ENSP00000370042:G667C;ENSP00000444640:G639C;ENSP00000370041:G734C	ENSP00000370041:G734C	G	-	1	0	BNC2	16425992	0.998000	0.40836	0.467000	0.27180	0.795000	0.44927	4.286000	0.58995	2.618000	0.88619	0.650000	0.86243	GGC		0.512	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		7	44	1	0	0.307466	1	0.307466	7	44				
ZRSR1	7310	broad.mit.edu	37	5	112227939	112227939	+	Silent	SNP	T	T	C	rs712666	byFrequency	TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr5:112227939T>C	ENST00000391338.1	+	1	627	c.603T>C	c.(601-603)tcT>tcC	p.S201S	REEP5_ENST00000513339.1_Intron|CTC-487M23.8_ENST00000506997.1_3'UTR|REEP5_ENST00000545426.1_Intron|REEP5_ENST00000379638.4_Intron|REEP5_ENST00000474542.2_Intron|REEP5_ENST00000504247.1_Intron|CTC-487M23.5_ENST00000602872.1_RNA|CTC-487M23.8_ENST00000512790.1_3'UTR	NM_001204199.1	NP_001191128.1	Q15695	U2AFL_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1	201						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.S201S(1)		breast(1)|skin(1)|stomach(2)	4						TCCCAACATCTAGTCCTACCC	0.453													C|||	1880	0.375399	0.6823	0.2867	5008	,	,		22598	0.1815		0.3638	False		,,,				2504	0.2352					ENST00000391338.1																			1	Substitution - coding silent(1)	p.S201S(1)	stomach(1)	breast(1)|skin(1)|stomach(2)	4						c.(601-603)tcT>tcC		zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1																																				SO:0001819	synonymous_variant	7310							g.chr5:112227939T>C	D49676		5q22.2	2013-02-12	2006-09-26	2006-09-26	ENSG00000212643	ENSG00000212643		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	12456	protein-coding gene	gene with protein product	"""U2(RNU2) small nuclear RNA auxiliary factor pseudogene 1"""	601079	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein-like"", ""U2(RNU2) small nuclear RNA auxillary factor 1-like 1"", ""U2 small nuclear RNA auxillary factor 1-like 1"""	U2AFBPL, U2AF1P, U2AF1L1		7956352	Standard	NG_005419		Approved	U2AF1-RS1, U2AF1RS1	uc021ycm.1	Q15695	OTTHUMG00000163143	ENST00000391338.1:c.603T>C	5.37:g.112227939T>C						REEP5_ENST00000379638.4_Intron|REEP5_ENST00000504247.1_Intron|REEP5_ENST00000513339.1_Intron|SRP19_ENST00000512790.1_3'UTR|REEP5_ENST00000474542.2_Intron|REEP5_ENST00000545426.1_Intron	p.S201S	NM_001204199.1	NP_001191128.1					1	627	+								B2R901|Q13570|Q2M3R8	Silent	SNP	ENST00000391338.1	37	c.603T>C																																																																																					0.453	ZRSR1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371801.1	NM_005083		4	77	0	0	0	1	0	4	77				
ADCK2	90956	broad.mit.edu	37	7	140394532	140394532	+	Silent	SNP	C	C	T			TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr7:140394532C>T	ENST00000072869.4	+	8	1988	c.1810C>T	c.(1810-1812)Ctg>Ttg	p.L604L	ADCK2_ENST00000476491.1_Intron|NDUFB2_ENST00000482954.1_Intron|NDUFB2_ENST00000471136.1_5'Flank|NDUFB2_ENST00000204307.5_5'Flank|NDUFB2_ENST00000476279.1_5'Flank|NDUFB2_ENST00000461457.1_5'Flank|NDUFB2_ENST00000460088.1_5'Flank|NDUFB2-AS1_ENST00000465466.1_RNA|NDUFB2_ENST00000476470.1_5'Flank|NDUFB2_ENST00000465506.1_5'Flank|NDUFB2_ENST00000472695.1_5'Flank|NDUFB2_ENST00000247866.4_5'Flank	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	604	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					TGGCCGCTCACTGGACCCCAA	0.582																																						ENST00000072869.4																			0				cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15						c.(1810-1812)Ctg>Ttg		aarF domain containing kinase 2							152.0	132.0	138.0					7																	140394532		2203	4300	6503	SO:0001819	synonymous_variant	90956					integral to membrane	ATP binding|protein serine/threonine kinase activity	g.chr7:140394532C>T	AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.1810C>T	7.37:g.140394532C>T						ADCK2_ENST00000476491.1_Intron|NDUFB2_ENST00000482954.1_Intron	p.L604L	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN			8	1988	+	Melanoma(164;0.00956)		604			Protein kinase.		Q96CN6|Q9Y6T5	Silent	SNP	ENST00000072869.4	37	c.1810C>T	CCDS5861.1																																																																																				0.582	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853		19	44	0	0	0	1	0	19	44				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	24	0	0	0	1	0	4	24				
TRIOBP	11078	broad.mit.edu	37	22	38120673	38120673	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr22:38120673G>A	ENST00000406386.3	+	7	2365	c.2110G>A	c.(2110-2112)Gac>Aac	p.D704N		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	704					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TGCCCAACGGGACGATCCCAG	0.582																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(2110-2112)Gac>Aac		TRIO and F-actin binding protein							173.0	189.0	184.0					22																	38120673		1953	4151	6104	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120673G>A	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.2110G>A	22.37:g.38120673G>A	ENSP00000384312:p.Asp704Asn					RP1-37E16.12_ENST00000455236.1_RNA	p.D704N	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	2365	+	Melanoma(58;0.0574)		704					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.2110G>A	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.024542	0.35701	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.26373	1.74	5.08	2.79	0.32731	.	.	.	.	.	T	0.23926	0.0579	L	0.45581	1.43	0.09310	N	1	B	0.33694	0.421	B	0.35470	0.203	T	0.13791	-1.0496	9	0.46703	T	0.11	.	9.6392	0.39828	0.0:0.0:0.6205:0.3795	.	704	Q9H2D6	TARA_HUMAN	N	704	ENSP00000384312:D704N	ENSP00000384312:D704N	D	+	1	0	TRIOBP	36450619	0.000000	0.05858	0.037000	0.18230	0.009000	0.06853	0.270000	0.18607	1.108000	0.41662	0.558000	0.71614	GAC		0.582	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			13	48	0	0	0	1	0	13	48				
GNPAT	8443	broad.mit.edu	37	1	231411174	231411174	+	Missense_Mutation	SNP	T	T	A			TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr1:231411174T>A	ENST00000366647.4	+	14	2036	c.1867T>A	c.(1867-1869)Tta>Ata	p.L623I	GNPAT_ENST00000469332.1_3'UTR|GNPAT_ENST00000366646.3_Missense_Mutation_p.L562I	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	623					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)	p.L623V(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TTATGATGTATTATCTTCTGA	0.428																																						ENST00000366647.4																			1	Substitution - Missense(1)	p.L623V(1)	ovary(1)	breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23						c.(1867-1869)Tta>Ata		glyceronephosphate O-acyltransferase							113.0	108.0	110.0					1																	231411174		2203	4300	6503	SO:0001583	missense	8443				ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity	g.chr1:231411174T>A	AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.1867T>A	1.37:g.231411174T>A	ENSP00000355607:p.Leu623Ile					GNPAT_ENST00000366646.3_Missense_Mutation_p.L562I|GNPAT_ENST00000469332.1_3'UTR	p.L623I	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN			14	2036	+	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)	623					B4DNM9|Q5TBH7|Q9BWC2	Missense_Mutation	SNP	ENST00000366647.4	37	c.1867T>A	CCDS1592.1	.	.	.	.	.	.	.	.	.	.	T	14.14	2.446733	0.43429	.	.	ENSG00000116906	ENST00000366647;ENST00000366646	T;T	0.71698	-0.59;-0.55	5.47	-2.79	0.05841	.	0.079660	0.49305	D	0.000152	T	0.77471	0.4135	M	0.65498	2.005	0.35204	D	0.774522	D;D	0.67145	0.995;0.996	P;D	0.67231	0.904;0.95	T	0.79664	-0.1709	10	0.44086	T	0.13	.	13.0603	0.59003	0.0:0.6585:0.0:0.3415	.	562;623	B4DNM9;O15228	.;GNPAT_HUMAN	I	623;562	ENSP00000355607:L623I;ENSP00000355606:L562I	ENSP00000355606:L562I	L	+	1	2	GNPAT	229477797	0.008000	0.16893	0.008000	0.14137	0.185000	0.23345	0.042000	0.13949	-0.435000	0.07264	0.377000	0.23210	TTA		0.428	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092871.1			4	61	0	0	0	1	0	4	61				
FEZF1	389549	broad.mit.edu	37	7	121944603	121944605	+	5'Flank	DEL	CCT	CCT	-			TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr7:121944603_121944605delCCT	ENST00000442488.2	-	0	0				FEZF1-AS1_ENST00000437317.1_RNA|FEZF1-AS1_ENST00000424404.1_RNA|FEZF1_ENST00000427185.2_5'Flank|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000331178.4_5'Flank	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1						axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						CCACCAGTAGcctcctcctcctc	0.655																																						ENST00000428449.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr7:121944603_121944605delCCT	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091		7.37:g.121944612_121944614delCCT	Exception_encountered							NR_036484.1						0	611	+								A0PJY3|A4D0W3|B4DUP9|B7ZM98	RNA	DEL	ENST00000442488.2	37		CCDS34741.2																																																																																				0.655	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613		2	4						2	4	---	---	---	---
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	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		21	42	0	0	0	1	0	21	42				
FANCG	2189	broad.mit.edu	37	9	35079179	35079179	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr9:35079179delT	ENST00000378643.3	-	2	635	c.144delA	c.(142-144)gaafs	p.E48fs	FANCG_ENST00000476212.1_5'Flank	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	48					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|mitochondrion organization (GO:0007005)|ovarian follicle development (GO:0001541)|response to radiation (GO:0009314)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	damaged DNA binding (GO:0003684)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTCTGAGCCCTTCCAGTGCAT	0.582			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks																														ENST00000378643.3			yes	Rec		Fanconi anaemia G	9	9p13	2189	"""Mis, N, F, S"""	"""Fanconi anemia, complementation group G"""			L		"""AML, leukemia"""			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28						c.(142-144)gafs	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group G							42.0	36.0	38.0					9																	35079179		2202	4300	6502	SO:0001589	frameshift_variant	2189				cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding	g.chr9:35079179delT	AJ007669	CCDS6574.1	9p13	2014-09-17			ENSG00000221829	ENSG00000221829		"""Fanconi anemia, complementation groups"""	3588	protein-coding gene	gene with protein product	"""DNA repair protein XRCC9"", ""X-ray repair, complementing defective, in Chinese hamster, 9"", ""X-ray repair complementing defective repair in Chinese hamster cells 9"""	602956		XRCC9		9256465, 9382107	Standard	NM_004629		Approved	FAG	uc003zwb.1	O15287	OTTHUMG00000019850	ENST00000378643.3:c.144delA	9.37:g.35079179delT	ENSP00000367910:p.Glu48fs						p.E48fs	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		2	635	-			48						Frame_Shift_Del	DEL	ENST00000378643.3	37	c.144delA	CCDS6574.1																																																																																				0.582	FANCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052269.1	NM_004629		2	4						2	4	---	---	---	---
SACS	26278	broad.mit.edu	37	13	23914687	23914687	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr13:23914687delT	ENST00000382292.3	-	9	3601	c.3328delA	c.(3328-3330)attfs	p.I1110fs	SACS_ENST00000402364.1_Frame_Shift_Del_p.I360fs|SACS_ENST00000382298.3_Frame_Shift_Del_p.I1110fs			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1110					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGGCTTCAATTTTTTTTGCC	0.383																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(3328-3330)ttfs		spastic ataxia of Charlevoix-Saguenay (sacsin)							187.0	198.0	194.0					13																	23914687		2203	4300	6503	SO:0001589	frameshift_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23914687delT	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.3328delA	13.37:g.23914687delT	ENSP00000371729:p.Ile1110fs					SACS_ENST00000382292.3_Frame_Shift_Del_p.I1110fs|SACS_ENST00000402364.1_Frame_Shift_Del_p.I360fs	p.I1110fs	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	3916	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1110					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Frame_Shift_Del	DEL	ENST00000382292.3	37	c.3328delA	CCDS9300.2																																																																																				0.383	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		7	205						7	205	---	---	---	---
SUGT1P3	283507	broad.mit.edu	37	13	41486862	41486862	+	RNA	DEL	A	A	-			TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr13:41486862delA	ENST00000304932.4	-	0	214					NR_003365.2				SUGT1 pseudogene 3																		cgtctctactaaaaaaaaaat	0.517																																						ENST00000304932.4																			0																																																			0							g.chr13:41486862delA			13q14.11	2013-10-18	2013-10-18	2010-10-27	ENSG00000239827	ENSG00000239827			20513	pseudogene	pseudogene			"""SGT1, suppressor of G2 allele of SKP1 like 1 (S. cerevisiae)"", ""suppressor of G2 allele of SKP1 (S. cerevisiae) pseudogene 3"""	SUGT1L1			Standard	NR_003365		Approved		uc001uxq.3		OTTHUMG00000016780		13.37:g.41486862delA								NR_003365.2						0	214	-									RNA	DEL	ENST00000304932.4	37																																																																																						0.517	SUGT1P3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044647.3			2	4						2	4	---	---	---	---
NLRC3	197358	broad.mit.edu	37	16	3607531	3607531	+	RNA	DEL	A	A	-			TCGA-E8-A44K-01A-21D-A23U-08	TCGA-E8-A44K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef64fb76-079f-40df-a19c-b375a8f4e4ac	c2bc89b8-c987-4cc1-a5a4-96e21ee64399	g.chr16:3607531delA	ENST00000301749.7	-	0	2505				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000419350.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGGACTTCACAAGATGCCTCA	0.488																																						ENST00000301749.7																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34								NLR family, CARD domain containing 3																																						197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3607531delA	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3607531delA						NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA		NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN			0	2505	-								Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	RNA	DEL	ENST00000301749.7	37																																																																																						0.488	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		4	4						4	4	---	---	---	---
