#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
AOX1	316	broad.mit.edu	37	2	201485429	201485429	+	Silent	SNP	G	G	C			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr2:201485429G>C	ENST00000374700.2	+	17	2002	c.1761G>C	c.(1759-1761)ctG>ctC	p.L587L	AOX1_ENST00000485106.1_Intron	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	587					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TCATGCATCTGTCTGGTGTGA	0.443																																						ENST00000374700.2																			0				breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81						c.(1759-1761)ctG>ctC		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						114.0	98.0	103.0					2																	201485429		2203	4300	6503	SO:0001819	synonymous_variant	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201485429G>C	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.1761G>C	2.37:g.201485429G>C						AOX1_ENST00000485106.1_Intron	p.L587L	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN			17	2002	+			587					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Silent	SNP	ENST00000374700.2	37	c.1761G>C	CCDS33360.1																																																																																				0.443	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		4	97	0	0	0	0.009096	0	4	97				
UNC5B	219699	broad.mit.edu	37	10	73055692	73055692	+	Missense_Mutation	SNP	G	G	A			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr10:73055692G>A	ENST00000335350.6	+	14	2716	c.2300G>A	c.(2299-2301)aGg>aAg	p.R767K	UNC5B_ENST00000373192.4_Missense_Mutation_p.R756K	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	767	UPA domain. {ECO:0000250}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GCCCATTGGAGGAGCAAGCTG	0.632																																						ENST00000335350.6																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						c.(2299-2301)aGg>aAg		unc-5 homolog B (C. elegans)							100.0	83.0	89.0					10																	73055692		2203	4300	6503	SO:0001583	missense	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73055692G>A	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.2300G>A	10.37:g.73055692G>A	ENSP00000334329:p.Arg767Lys					UNC5B_ENST00000373192.4_Missense_Mutation_p.R756K	p.R767K	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN			14	2716	+			767					Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	c.2300G>A	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.243225	0.22796	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.45276	0.96;0.9	5.01	3.16	0.36331	.	0.051724	0.85682	N	0.000000	T	0.27559	0.0677	L	0.28274	0.84	0.52501	D	0.99995	B;B	0.33549	0.417;0.293	B;B	0.36719	0.231;0.116	T	0.02743	-1.1116	10	0.08599	T	0.76	-18.0092	10.734	0.46113	0.1542:0.0:0.8458:0.0	.	756;767	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	K	767;756	ENSP00000334329:R767K;ENSP00000362288:R756K	ENSP00000334329:R767K	R	+	2	0	UNC5B	72725698	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.053000	0.57427	0.520000	0.28426	0.579000	0.79373	AGG		0.632	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		3	111	0	0	0	0.115264	0	3	111				
DNAH9	1770	broad.mit.edu	37	17	11872791	11872791	+	Missense_Mutation	SNP	G	G	A			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr17:11872791G>A	ENST00000262442.4	+	69	13476	c.13408G>A	c.(13408-13410)Gaa>Aaa	p.E4470K	DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.E4394K|DNAH9_ENST00000608377.1_Missense_Mutation_p.E782K|RP11-1096G20.5_ENST00000580270.1_RNA	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4470					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAAGACTAAGGAAAACCCATC	0.512																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(13408-13410)Gaa>Aaa		dynein, axonemal, heavy chain 9							52.0	47.0	49.0					17																	11872791		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11872791G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.13408G>A	17.37:g.11872791G>A	ENSP00000262442:p.Glu4470Lys					DNAH9_ENST00000396001.2_Missense_Mutation_p.E782K|RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000454412.2_Missense_Mutation_p.E4394K	p.E4470K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	69	13476	+		Breast(5;0.0122)|all_epithelial(5;0.131)	4470					A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.13408G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492475	0.84962	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001	T;T;T	0.08807	3.05;3.05;3.05	5.43	4.47	0.54385	Dynein heavy chain (1);	0.327716	0.35349	N	0.003276	T	0.20820	0.0501	L	0.42008	1.315	0.58432	D	0.999997	D	0.58620	0.983	D	0.66351	0.943	T	0.00967	-1.1497	10	0.44086	T	0.13	.	16.5588	0.84534	0.0:0.1304:0.8696:0.0	.	4470	Q9NYC9	DYH9_HUMAN	K	4470;4394;2976;782	ENSP00000262442:E4470K;ENSP00000414874:E4394K;ENSP00000379323:E782K	ENSP00000262442:E4470K	E	+	1	0	DNAH9	11813516	1.000000	0.71417	0.998000	0.56505	0.883000	0.51084	6.068000	0.71201	1.529000	0.49120	-0.127000	0.14921	GAA		0.512	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		4	44	0	0	0	0.009096	0	4	44				
ITGAD	3681	broad.mit.edu	37	16	31425789	31425789	+	Missense_Mutation	SNP	G	G	A	rs139794241	byFrequency	TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr16:31425789G>A	ENST00000389202.2	+	17	2063	c.2014G>A	c.(2014-2016)Gtc>Atc	p.V672I		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	672					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCAAAGCTCTGTCAGGTTTGA	0.443																																						ENST00000389202.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2014-2016)Gtc>Atc		integrin, alpha D							156.0	168.0	164.0					16																	31425789		2197	4300	6497	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31425789G>A	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2014G>A	16.37:g.31425789G>A	ENSP00000373854:p.Val672Ile						p.V672I	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN			17	2063	+			672					Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.2014G>A	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	G	5.694	0.312574	0.10789	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.43294	0.95	4.7	0.387	0.16259	Integrin alpha-2 (1);	.	.	.	.	T	0.37839	0.1018	M	0.64997	1.995	0.21064	N	0.999792	B;B	0.13594	0.008;0.008	B;B	0.27076	0.076;0.076	T	0.37641	-0.9697	9	0.25751	T	0.34	.	7.2475	0.26129	0.3859:0.0:0.6141:0.0	.	688;672	Q59H14;Q13349	.;ITAD_HUMAN	I	688;672	ENSP00000373854:V672I	ENSP00000373854:V672I	V	+	1	0	ITGAD	31333290	0.001000	0.12720	0.193000	0.23327	0.220000	0.24768	0.031000	0.13710	-0.145000	0.11294	-0.357000	0.07601	GTC		0.443	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		6	273	0	0	0	0.029380	0	6	273				
PIWIL2	55124	broad.mit.edu	37	8	22138985	22138985	+	Missense_Mutation	SNP	G	G	A			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr8:22138985G>A	ENST00000454009.2	+	4	891	c.382G>A	c.(382-384)Gct>Act	p.A128T	PIWIL2_ENST00000521356.1_Missense_Mutation_p.A128T|PIWIL2_ENST00000356766.6_Missense_Mutation_p.A128T	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	128					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		AGTGTTGGCGGCTGGGGACAG	0.488																																						ENST00000356766.6																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(382-384)Gct>Act		piwi-like RNA-mediated gene silencing 2							100.0	105.0	103.0					8																	22138985		2203	4300	6503	SO:0001583	missense	55124				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	g.chr8:22138985G>A	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.382G>A	8.37:g.22138985G>A	ENSP00000406956:p.Ala128Thr					PIWIL2_ENST00000521356.1_Missense_Mutation_p.A128T|PIWIL2_ENST00000454009.2_Missense_Mutation_p.A128T	p.A128T	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	4	530	+			128					A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	c.382G>A	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.979314	0.53827	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.05258	3.48;3.47;3.48	5.55	3.76	0.43208	.	0.266613	0.31709	N	0.007190	T	0.04679	0.0127	L	0.29908	0.895	0.30162	N	0.802054	B;B	0.24258	0.1;0.1	B;B	0.18561	0.022;0.022	T	0.28839	-1.0031	10	0.20519	T	0.43	.	8.2168	0.31516	0.0805:0.0:0.7637:0.1558	.	128;128	E7ECA4;Q8TC59	.;PIWL2_HUMAN	T	128	ENSP00000349208:A128T;ENSP00000428267:A128T;ENSP00000406956:A128T	ENSP00000349208:A128T	A	+	1	0	PIWIL2	22194930	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	2.688000	0.46984	0.718000	0.32166	0.561000	0.74099	GCT		0.488	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			4	130	0	0	0	0.009096	0	4	130				
NOP16	51491	broad.mit.edu	37	5	175815258	175815258	+	Missense_Mutation	SNP	G	G	A	rs376625530		TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr5:175815258G>A	ENST00000389158.5	-	2	629	c.194C>T	c.(193-195)gCg>gTg	p.A65V	NOP16_ENST00000509257.1_Missense_Mutation_p.A65V|NOP16_ENST00000507413.1_Intron|NOP16_ENST00000510123.1_Missense_Mutation_p.A65V|HIGD2A_ENST00000274787.2_5'Flank			Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein	65						intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						GAGGGGCACCGCCCTGTTGGG	0.587																																						ENST00000389158.5																			0				central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						c.(193-195)gCg>gTg		NOP16 nucleolar protein		G	VAL/ALA	0,4046		0,0,2023	66.0	73.0	71.0		194	4.3	1.0	5		71	1,8319		0,1,4159	no	missense	NOP16	NM_016391.4	64	0,1,6182	AA,AG,GG		0.012,0.0,0.0081	benign	65/179	175815258	1,12365	2023	4160	6183	SO:0001583	missense	51491					nucleolus		g.chr5:175815258G>A		CCDS43403.1, CCDS58991.1	5q35.2	2012-12-10	2012-12-10		ENSG00000048162	ENSG00000048162			26934	protein-coding gene	gene with protein product	"""hypothetical protein HSPC111"", ""HBV pre-S2 trans-regulated protein 3"""	612861	"""nucleolar protein 16 homolog (yeast)"", ""NOP16 nucleolar protein homolog (yeast)"""			10810093, 11042152	Standard	NM_001291308		Approved	HSPC111, HSPC185, LOC51491	uc003mee.4	Q9Y3C1	OTTHUMG00000163186	ENST00000389158.5:c.194C>T	5.37:g.175815258G>A	ENSP00000373810:p.Ala65Val					NOP16_ENST00000507413.1_Intron|NOP16_ENST00000509257.1_Missense_Mutation_p.A65V|NOP16_ENST00000510123.1_Missense_Mutation_p.A65V	p.A65V			Q9Y3C1	NOP16_HUMAN			2	629	-			65					B4DV13|D6RGD3|Q05D05|Q6IAI6|Q8IXL5	Missense_Mutation	SNP	ENST00000389158.5	37	c.194C>T	CCDS43403.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759365	0.69763	0.0	1.2E-4	ENSG00000048162	ENST00000389158;ENST00000510123;ENST00000451293;ENST00000509257	.	.	.	5.21	4.34	0.51931	.	.	.	.	.	T	0.58736	0.2143	M	0.68728	2.09	0.49483	D	0.999791	P;B;D;P	0.57571	0.634;0.068;0.98;0.916	B;B;P;B	0.47673	0.154;0.021;0.554;0.387	T	0.58014	-0.7711	8	0.15952	T	0.53	.	13.6261	0.62165	0.0739:0.0:0.926:0.0	.	65;65;65;65	B4E098;Q9Y3C1;Q6PIM0;D6RGD3	.;NOP16_HUMAN;.;.	V	65	.	ENSP00000373810:A65V	A	-	2	0	NOP16	175747864	1.000000	0.71417	0.992000	0.48379	0.362000	0.29581	4.299000	0.59073	1.437000	0.47472	0.561000	0.74099	GCG		0.587	NOP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371963.1	NM_016391		4	114	0	0	0	0.009096	0	4	114				
FOCAD	54914	broad.mit.edu	37	9	20982426	20982426	+	Missense_Mutation	SNP	G	G	A			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr9:20982426G>A	ENST00000380249.1	+	41	5073	c.4709G>A	c.(4708-4710)cGg>cAg	p.R1570Q	FOCAD_ENST00000338382.6_Missense_Mutation_p.R1570Q|FOCAD_ENST00000605086.1_Missense_Mutation_p.R1006Q	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1570						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											GATGCCAATCGGATCGCCCAG	0.353																																						ENST00000380249.1																			0											c.(4708-4710)cGg>cAg		focadhesin							127.0	133.0	131.0					9																	20982426		2203	4300	6503	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20982426G>A	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.4709G>A	9.37:g.20982426G>A	ENSP00000369599:p.Arg1570Gln					FOCAD_ENST00000338382.6_Missense_Mutation_p.R1570Q|FOCAD_ENST00000605086.1_Missense_Mutation_p.R1006Q	p.R1570Q	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN			41	5073	+			1570					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.4709G>A	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.428263	0.25726	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.18960	2.18;2.18	5.83	3.8	0.43715	.	0.061048	0.64402	N	0.000004	T	0.16085	0.0387	L	0.43701	1.375	0.21499	N	0.999665	B	0.22541	0.071	B	0.17098	0.017	T	0.22417	-1.0217	10	0.22706	T	0.39	-28.0448	8.5708	0.33567	0.2557:0.0:0.7443:0.0	.	1570	Q5VW36	K1797_HUMAN	Q	1570	ENSP00000369599:R1570Q;ENSP00000344307:R1570Q	ENSP00000344307:R1570Q	R	+	2	0	KIAA1797	20972426	0.631000	0.27164	0.005000	0.12908	0.562000	0.35680	2.675000	0.46875	0.670000	0.31165	0.561000	0.74099	CGG		0.353	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		3	91	0	0	0	0.009096	0	3	91				
CCT6P3	643180	broad.mit.edu	37	7	64528850	64528850	+	RNA	SNP	T	T	G	rs2949472	byFrequency	TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr7:64528850T>G	ENST00000426828.1	+	0	638				SNORA15_ENST00000384334.1_RNA|SNORA22_ENST00000384614.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		GAATTCTGGCTTTTTTTACAA	0.284													t|||	73	0.0145767	0.034	0.0029	5008	,	,		16287	0.0169		0.004	False		,,,				2504	0.0051					ENST00000426828.1																			0																																																			0							g.chr7:64528850T>G			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64528850T>G								NR_033416.1						0	638	+									RNA	SNP	ENST00000426828.1	37																																																																																						0.284	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			4	26	0	0	0	0.021553	0	4	26				
MEGF8	1954	broad.mit.edu	37	19	42848949	42848949	+	Silent	SNP	C	C	T			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr19:42848949C>T	ENST00000251268.6	+	12	2061	c.2061C>T	c.(2059-2061)acC>acT	p.T687T	MEGF8_ENST00000334370.4_Silent_p.T687T	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	687					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				ACTTGCTCACCTTTCAGCAGC	0.617																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(2059-2061)acC>acT		multiple EGF-like-domains 8							71.0	70.0	71.0					19																	42848949		2203	4300	6503	SO:0001819	synonymous_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42848949C>T	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.2061C>T	19.37:g.42848949C>T						MEGF8_ENST00000251268.6_Silent_p.T687T	p.T687T	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			12	2696	+		Prostate(69;0.00682)	755					A8KAY0|O75097	Silent	SNP	ENST00000251268.6	37	c.2061C>T																																																																																					0.617	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		4	110	0	0	0	0.029380	0	4	110				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	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		43	70	0	0	0	0.139131	0	43	70				
MT-CO1	4512	broad.mit.edu	37	M	3243	3243	+	5'Flank	SNP	A	A	G			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chrM:3243A>G	ENST00000361624.2	+	0	0				MT-TQ_ENST00000387372.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TI_ENST00000387365.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TV_ENST00000387342.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TN_ENST00000387400.1_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						taagatggcagagcccggtaa	0.438																																						ENST00000386347.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chrM:3243A>G			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.3243A>G	Exception_encountered													0	14	+								Q34770	RNA	SNP	ENST00000361624.2	37																																																																																						0.438	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024028		7	0	0	0	0	0.038147	0	7	0				
AOX1	316	broad.mit.edu	37	2	201485429	201485429	+	Silent	SNP	G	G	C			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	669777a5-ce55-4e1d-9b1a-d648e9b62c43	g.chr2:201485429G>C	ENST00000374700.2	+	17	2002	c.1761G>C	c.(1759-1761)ctG>ctC	p.L587L	AOX1_ENST00000485106.1_Intron	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	587					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TCATGCATCTGTCTGGTGTGA	0.443																																						ENST00000374700.2																			0				breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81						c.(1759-1761)ctG>ctC		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						114.0	98.0	103.0					2																	201485429		2203	4300	6503	SO:0001819	synonymous_variant	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201485429G>C	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.1761G>C	2.37:g.201485429G>C						AOX1_ENST00000485106.1_Intron	p.L587L	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN			17	2002	+			587					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Silent	SNP	ENST00000374700.2	37	c.1761G>C	CCDS33360.1																																																																																				0.443	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		4	97	0	0	0	0.009096	0	4	97				
LILRB5	10990	broad.mit.edu	37	19	54754843	54754843	+	Intron	SNP	A	A	G			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	669777a5-ce55-4e1d-9b1a-d648e9b62c43	g.chr19:54754843A>G	ENST00000316219.5	-	13	1734				LILRB5_ENST00000345866.6_Intron|CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000450632.1_Missense_Mutation_p.S598P|LILRB5_ENST00000449561.2_Intron	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607																																						ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1792-1794)Tcc>Ccc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5							43.0	42.0	42.0					19																	54754843		2191	4270	6461	SO:0001627	intron_variant	0				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54754843A>G	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1627-47T>C	19.37:g.54754843A>G						LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000316219.5_Intron	p.S598P			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	13	1869	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		423					Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.1792T>C	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	A	10.02	1.237390	0.22711	.	.	ENSG00000105609	ENST00000450632	T	0.00497	6.98	1.74	-0.656	0.11436	.	.	.	.	.	T	0.00328	0.0010	.	.	.	0.09310	N	1	B	0.24576	0.106	B	0.17433	0.018	T	0.45702	-0.9243	8	0.87932	D	0	.	1.6956	0.02861	0.475:0.0:0.2022:0.3228	.	598	C9JMK7	.	P	598	ENSP00000414225:S598P	ENSP00000414225:S598P	S	-	1	0	LILRB5	59446655	0.000000	0.05858	0.043000	0.18650	0.608000	0.37181	-0.873000	0.04214	-0.256000	0.09473	0.332000	0.21555	TCC		0.607	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			3	44	0	0	0	0.115264	0	3	44				
UNC5B	219699	broad.mit.edu	37	10	73055692	73055692	+	Missense_Mutation	SNP	G	G	A			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	669777a5-ce55-4e1d-9b1a-d648e9b62c43	g.chr10:73055692G>A	ENST00000335350.6	+	14	2716	c.2300G>A	c.(2299-2301)aGg>aAg	p.R767K	UNC5B_ENST00000373192.4_Missense_Mutation_p.R756K	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	767	UPA domain. {ECO:0000250}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GCCCATTGGAGGAGCAAGCTG	0.632																																						ENST00000335350.6																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						c.(2299-2301)aGg>aAg		unc-5 homolog B (C. elegans)							100.0	83.0	89.0					10																	73055692		2203	4300	6503	SO:0001583	missense	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73055692G>A	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.2300G>A	10.37:g.73055692G>A	ENSP00000334329:p.Arg767Lys					UNC5B_ENST00000373192.4_Missense_Mutation_p.R756K	p.R767K	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN			14	2716	+			767					Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	c.2300G>A	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.243225	0.22796	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.45276	0.96;0.9	5.01	3.16	0.36331	.	0.051724	0.85682	N	0.000000	T	0.27559	0.0677	L	0.28274	0.84	0.52501	D	0.99995	B;B	0.33549	0.417;0.293	B;B	0.36719	0.231;0.116	T	0.02743	-1.1116	10	0.08599	T	0.76	-18.0092	10.734	0.46113	0.1542:0.0:0.8458:0.0	.	756;767	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	K	767;756	ENSP00000334329:R767K;ENSP00000362288:R756K	ENSP00000334329:R767K	R	+	2	0	UNC5B	72725698	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.053000	0.57427	0.520000	0.28426	0.579000	0.79373	AGG		0.632	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		3	111	0	0	0	0.115264	0	3	111				
DNAH9	1770	broad.mit.edu	37	17	11872791	11872791	+	Missense_Mutation	SNP	G	G	A			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	669777a5-ce55-4e1d-9b1a-d648e9b62c43	g.chr17:11872791G>A	ENST00000262442.4	+	69	13476	c.13408G>A	c.(13408-13410)Gaa>Aaa	p.E4470K	DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.E4394K|DNAH9_ENST00000608377.1_Missense_Mutation_p.E782K|RP11-1096G20.5_ENST00000580270.1_RNA	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4470					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAAGACTAAGGAAAACCCATC	0.512																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(13408-13410)Gaa>Aaa		dynein, axonemal, heavy chain 9							52.0	47.0	49.0					17																	11872791		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11872791G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.13408G>A	17.37:g.11872791G>A	ENSP00000262442:p.Glu4470Lys					DNAH9_ENST00000396001.2_Missense_Mutation_p.E782K|DNAH9_ENST00000454412.2_Missense_Mutation_p.E4394K|RP11-1096G20.5_ENST00000580270.1_RNA	p.E4470K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	69	13476	+		Breast(5;0.0122)|all_epithelial(5;0.131)	4470					A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.13408G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492475	0.84962	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001	T;T;T	0.08807	3.05;3.05;3.05	5.43	4.47	0.54385	Dynein heavy chain (1);	0.327716	0.35349	N	0.003276	T	0.20820	0.0501	L	0.42008	1.315	0.58432	D	0.999997	D	0.58620	0.983	D	0.66351	0.943	T	0.00967	-1.1497	10	0.44086	T	0.13	.	16.5588	0.84534	0.0:0.1304:0.8696:0.0	.	4470	Q9NYC9	DYH9_HUMAN	K	4470;4394;2976;782	ENSP00000262442:E4470K;ENSP00000414874:E4394K;ENSP00000379323:E782K	ENSP00000262442:E4470K	E	+	1	0	DNAH9	11813516	1.000000	0.71417	0.998000	0.56505	0.883000	0.51084	6.068000	0.71201	1.529000	0.49120	-0.127000	0.14921	GAA		0.512	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		4	44	0	0	0	0.009096	0	4	44				
LILRB5	10990	broad.mit.edu	37	19	54754820	54754820	+	Intron	SNP	T	T	G	rs429425	byFrequency	TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	669777a5-ce55-4e1d-9b1a-d648e9b62c43	g.chr19:54754820T>G	ENST00000316219.5	-	13	1734				LILRB5_ENST00000345866.6_Intron|CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000450632.1_Missense_Mutation_p.L605F|LILRB5_ENST00000449561.2_Intron	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAGTGAGAGGTAAGGAACGTG	0.607													.|||	4159	0.830471	0.8593	0.7824	5008	,	,		9457	0.8294		0.7843	False		,,,				2504	0.8742					ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1813-1815)ttA>ttC		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5		G	,,	3675,725		1585,505,110	33.0	34.0	34.0		,,	-4.9	0.0	19	dbSNP_80	34	6648,1934		2753,1142,396	no	intron,intron,intron	LILRB5	NM_001081442.1,NM_001081443.1,NM_006840.3	,,	4338,1647,506	GG,GT,TT		22.5355,16.4773,20.4822	,,	,,	54754820	10323,2659	2200	4291	6491	SO:0001627	intron_variant	0				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54754820T>G	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1627-24A>C	19.37:g.54754820T>G						LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000316219.5_Intron	p.L605F			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	13	1892	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		440					Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.1815A>C	CCDS12885.1	1710	0.782967032967033	396	0.8048780487804879	281	0.7762430939226519	464	0.8111888111888111	569	0.7506596306068601	t	8.517	0.867865	0.17250	0.835227	0.774645	ENSG00000105609	ENST00000450632	T	0.00510	6.9	2.46	-4.92	0.03075	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.09509	-1.0671	7	0.38643	T	0.18	.	1.3525	0.02176	0.4786:0.1571:0.2056:0.1587	rs429425;rs4002824;rs58241854	605	C9JMK7	.	F	605	ENSP00000414225:L605F	ENSP00000414225:L605F	L	-	3	2	LILRB5	59446632	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.731000	0.01853	-1.442000	0.01955	-1.238000	0.01547	TTA		0.607	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			3	59	0	0	0	0.009096	0	3	59				
ITGAD	3681	broad.mit.edu	37	16	31425789	31425789	+	Missense_Mutation	SNP	G	G	A	rs139794241	byFrequency	TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	669777a5-ce55-4e1d-9b1a-d648e9b62c43	g.chr16:31425789G>A	ENST00000389202.2	+	17	2063	c.2014G>A	c.(2014-2016)Gtc>Atc	p.V672I		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	672					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCAAAGCTCTGTCAGGTTTGA	0.443																																						ENST00000389202.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2014-2016)Gtc>Atc		integrin, alpha D							156.0	168.0	164.0					16																	31425789		2197	4300	6497	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31425789G>A	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2014G>A	16.37:g.31425789G>A	ENSP00000373854:p.Val672Ile						p.V672I	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN			17	2063	+			672					Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.2014G>A	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	G	5.694	0.312574	0.10789	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.43294	0.95	4.7	0.387	0.16259	Integrin alpha-2 (1);	.	.	.	.	T	0.37839	0.1018	M	0.64997	1.995	0.21064	N	0.999792	B;B	0.13594	0.008;0.008	B;B	0.27076	0.076;0.076	T	0.37641	-0.9697	9	0.25751	T	0.34	.	7.2475	0.26129	0.3859:0.0:0.6141:0.0	.	688;672	Q59H14;Q13349	.;ITAD_HUMAN	I	688;672	ENSP00000373854:V672I	ENSP00000373854:V672I	V	+	1	0	ITGAD	31333290	0.001000	0.12720	0.193000	0.23327	0.220000	0.24768	0.031000	0.13710	-0.145000	0.11294	-0.357000	0.07601	GTC		0.443	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		6	273	0	0	0	0.029380	0	6	273				
PIWIL2	55124	broad.mit.edu	37	8	22138985	22138985	+	Missense_Mutation	SNP	G	G	A			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	669777a5-ce55-4e1d-9b1a-d648e9b62c43	g.chr8:22138985G>A	ENST00000454009.2	+	4	891	c.382G>A	c.(382-384)Gct>Act	p.A128T	PIWIL2_ENST00000521356.1_Missense_Mutation_p.A128T|PIWIL2_ENST00000356766.6_Missense_Mutation_p.A128T	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	128					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		AGTGTTGGCGGCTGGGGACAG	0.488																																						ENST00000356766.6																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(382-384)Gct>Act		piwi-like RNA-mediated gene silencing 2							100.0	105.0	103.0					8																	22138985		2203	4300	6503	SO:0001583	missense	55124				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	g.chr8:22138985G>A	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.382G>A	8.37:g.22138985G>A	ENSP00000406956:p.Ala128Thr					PIWIL2_ENST00000521356.1_Missense_Mutation_p.A128T|PIWIL2_ENST00000454009.2_Missense_Mutation_p.A128T	p.A128T	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	4	530	+			128					A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	c.382G>A	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.979314	0.53827	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.05258	3.48;3.47;3.48	5.55	3.76	0.43208	.	0.266613	0.31709	N	0.007190	T	0.04679	0.0127	L	0.29908	0.895	0.30162	N	0.802054	B;B	0.24258	0.1;0.1	B;B	0.18561	0.022;0.022	T	0.28839	-1.0031	10	0.20519	T	0.43	.	8.2168	0.31516	0.0805:0.0:0.7637:0.1558	.	128;128	E7ECA4;Q8TC59	.;PIWL2_HUMAN	T	128	ENSP00000349208:A128T;ENSP00000428267:A128T;ENSP00000406956:A128T	ENSP00000349208:A128T	A	+	1	0	PIWIL2	22194930	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	2.688000	0.46984	0.718000	0.32166	0.561000	0.74099	GCT		0.488	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			4	130	0	0	0	0.009096	0	4	130				
USP41	373856	broad.mit.edu	37	22	20723832	20723832	+	Missense_Mutation	SNP	T	T	C	rs75178771	byFrequency	TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	669777a5-ce55-4e1d-9b1a-d648e9b62c43	g.chr22:20723832T>C	ENST00000454608.2	-	8	513	c.514A>G	c.(514-516)Atg>Gtg	p.M172V	USP41_ENST00000486536.2_5'UTR			Q3LFD5	UBP41_HUMAN	ubiquitin specific peptidase 41	172	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			endometrium(1)|kidney(1)|lung(2)|skin(1)	5						GAGTCCTTCATCCGGATCATA	0.532													T|||	74	0.0147764	0.025	0.0115	5008	,	,		17082	0.0		0.0298	False		,,,				2504	0.0031					ENST00000454608.2																			0				endometrium(1)|kidney(1)|lung(2)|skin(1)	5						c.(514-516)Atg>Gtg		ubiquitin specific peptidase 41																																				SO:0001583	missense	373856							g.chr22:20723832T>C	AJ586979		22q11.22	2011-01-31	2005-08-08		ENSG00000161133	ENSG00000161133		"""Ubiquitin-specific peptidases"""	20070	protein-coding gene	gene with protein product			"""ubiquitin specific protease 41"""			12838346	Standard	XM_006710116		Approved		uc011ahq.1	Q3LFD5	OTTHUMG00000151317	ENST00000454608.2:c.514A>G	22.37:g.20723832T>C	ENSP00000414922:p.Met172Val					USP41_ENST00000486536.2_5'UTR	p.M172V							8	513	-								A8MXD0|Q70BM7	Missense_Mutation	SNP	ENST00000454608.2	37	c.514A>G		64	0.029304029304029304	11	0.022357723577235773	6	0.016574585635359115	6	0.01048951048951049	41	0.05408970976253298	N	0.006	-2.019547	0.00418	.	.	ENSG00000161133	ENST00000454608	T	0.28454	1.61	.	.	.	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.930396	0.09186	N	0.836810	T	0.01421	0.0046	N	0.01464	-0.85	.	.	.	B	0.02656	0.0	B	0.04013	0.001	T	0.32824	-0.9892	7	0.23302	T	0.38	.	.	.	.	.	172	Q3LFD5	UBP41_HUMAN	V	172	ENSP00000414922:M172V	ENSP00000414922:M172V	M	-	1	0	USP41	19053832	0.010000	0.17322	0.425000	0.26659	0.433000	0.31745	-0.916000	0.04029	0.229000	0.21039	0.227000	0.17789	ATG		0.532	USP41-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		XM_036729		3	73	0	0	0	0.038147	0	3	73				
NOP16	51491	broad.mit.edu	37	5	175815258	175815258	+	Missense_Mutation	SNP	G	G	A	rs376625530		TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	669777a5-ce55-4e1d-9b1a-d648e9b62c43	g.chr5:175815258G>A	ENST00000389158.5	-	2	629	c.194C>T	c.(193-195)gCg>gTg	p.A65V	NOP16_ENST00000509257.1_Missense_Mutation_p.A65V|NOP16_ENST00000507413.1_Intron|NOP16_ENST00000510123.1_Missense_Mutation_p.A65V|HIGD2A_ENST00000274787.2_5'Flank			Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein	65						intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						GAGGGGCACCGCCCTGTTGGG	0.587																																						ENST00000389158.5																			0				central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						c.(193-195)gCg>gTg		NOP16 nucleolar protein		G	VAL/ALA	0,4046		0,0,2023	66.0	73.0	71.0		194	4.3	1.0	5		71	1,8319		0,1,4159	no	missense	NOP16	NM_016391.4	64	0,1,6182	AA,AG,GG		0.012,0.0,0.0081	benign	65/179	175815258	1,12365	2023	4160	6183	SO:0001583	missense	51491					nucleolus		g.chr5:175815258G>A		CCDS43403.1, CCDS58991.1	5q35.2	2012-12-10	2012-12-10		ENSG00000048162	ENSG00000048162			26934	protein-coding gene	gene with protein product	"""hypothetical protein HSPC111"", ""HBV pre-S2 trans-regulated protein 3"""	612861	"""nucleolar protein 16 homolog (yeast)"", ""NOP16 nucleolar protein homolog (yeast)"""			10810093, 11042152	Standard	NM_001291308		Approved	HSPC111, HSPC185, LOC51491	uc003mee.4	Q9Y3C1	OTTHUMG00000163186	ENST00000389158.5:c.194C>T	5.37:g.175815258G>A	ENSP00000373810:p.Ala65Val					NOP16_ENST00000507413.1_Intron|NOP16_ENST00000510123.1_Missense_Mutation_p.A65V|NOP16_ENST00000509257.1_Missense_Mutation_p.A65V	p.A65V			Q9Y3C1	NOP16_HUMAN			2	629	-			65					B4DV13|D6RGD3|Q05D05|Q6IAI6|Q8IXL5	Missense_Mutation	SNP	ENST00000389158.5	37	c.194C>T	CCDS43403.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759365	0.69763	0.0	1.2E-4	ENSG00000048162	ENST00000389158;ENST00000510123;ENST00000451293;ENST00000509257	.	.	.	5.21	4.34	0.51931	.	.	.	.	.	T	0.58736	0.2143	M	0.68728	2.09	0.49483	D	0.999791	P;B;D;P	0.57571	0.634;0.068;0.98;0.916	B;B;P;B	0.47673	0.154;0.021;0.554;0.387	T	0.58014	-0.7711	8	0.15952	T	0.53	.	13.6261	0.62165	0.0739:0.0:0.926:0.0	.	65;65;65;65	B4E098;Q9Y3C1;Q6PIM0;D6RGD3	.;NOP16_HUMAN;.;.	V	65	.	ENSP00000373810:A65V	A	-	2	0	NOP16	175747864	1.000000	0.71417	0.992000	0.48379	0.362000	0.29581	4.299000	0.59073	1.437000	0.47472	0.561000	0.74099	GCG		0.587	NOP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371963.1	NM_016391		4	114	0	0	0	0.009096	0	4	114				
FOCAD	54914	broad.mit.edu	37	9	20982426	20982426	+	Missense_Mutation	SNP	G	G	A			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	669777a5-ce55-4e1d-9b1a-d648e9b62c43	g.chr9:20982426G>A	ENST00000380249.1	+	41	5073	c.4709G>A	c.(4708-4710)cGg>cAg	p.R1570Q	FOCAD_ENST00000338382.6_Missense_Mutation_p.R1570Q|FOCAD_ENST00000605086.1_Missense_Mutation_p.R1006Q	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1570						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											GATGCCAATCGGATCGCCCAG	0.353																																						ENST00000380249.1																			0											c.(4708-4710)cGg>cAg		focadhesin							127.0	133.0	131.0					9																	20982426		2203	4300	6503	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20982426G>A	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.4709G>A	9.37:g.20982426G>A	ENSP00000369599:p.Arg1570Gln					FOCAD_ENST00000605086.1_Missense_Mutation_p.R1006Q|FOCAD_ENST00000338382.6_Missense_Mutation_p.R1570Q	p.R1570Q	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN			41	5073	+			1570					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.4709G>A	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.428263	0.25726	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.18960	2.18;2.18	5.83	3.8	0.43715	.	0.061048	0.64402	N	0.000004	T	0.16085	0.0387	L	0.43701	1.375	0.21499	N	0.999665	B	0.22541	0.071	B	0.17098	0.017	T	0.22417	-1.0217	10	0.22706	T	0.39	-28.0448	8.5708	0.33567	0.2557:0.0:0.7443:0.0	.	1570	Q5VW36	K1797_HUMAN	Q	1570	ENSP00000369599:R1570Q;ENSP00000344307:R1570Q	ENSP00000344307:R1570Q	R	+	2	0	KIAA1797	20972426	0.631000	0.27164	0.005000	0.12908	0.562000	0.35680	2.675000	0.46875	0.670000	0.31165	0.561000	0.74099	CGG		0.353	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		3	91	0	0	0	0.009096	0	3	91				
CCT6P3	643180	broad.mit.edu	37	7	64528850	64528850	+	RNA	SNP	T	T	G	rs2949472	byFrequency	TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	669777a5-ce55-4e1d-9b1a-d648e9b62c43	g.chr7:64528850T>G	ENST00000426828.1	+	0	638				SNORA15_ENST00000384334.1_RNA|SNORA22_ENST00000384614.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		GAATTCTGGCTTTTTTTACAA	0.284													t|||	73	0.0145767	0.034	0.0029	5008	,	,		16287	0.0169		0.004	False		,,,				2504	0.0051					ENST00000426828.1																			0																																																			0							g.chr7:64528850T>G			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64528850T>G								NR_033416.1						0	638	+									RNA	SNP	ENST00000426828.1	37																																																																																						0.284	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			4	26	0	0	0	0.021553	0	4	26				
MEGF8	1954	broad.mit.edu	37	19	42848949	42848949	+	Silent	SNP	C	C	T			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	669777a5-ce55-4e1d-9b1a-d648e9b62c43	g.chr19:42848949C>T	ENST00000251268.6	+	12	2061	c.2061C>T	c.(2059-2061)acC>acT	p.T687T	MEGF8_ENST00000334370.4_Silent_p.T687T	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	687					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				ACTTGCTCACCTTTCAGCAGC	0.617																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(2059-2061)acC>acT		multiple EGF-like-domains 8							71.0	70.0	71.0					19																	42848949		2203	4300	6503	SO:0001819	synonymous_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42848949C>T	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.2061C>T	19.37:g.42848949C>T						MEGF8_ENST00000251268.6_Silent_p.T687T	p.T687T	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			12	2696	+		Prostate(69;0.00682)	755					A8KAY0|O75097	Silent	SNP	ENST00000251268.6	37	c.2061C>T																																																																																					0.617	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		4	110	0	0	0	0.029380	0	4	110				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	669777a5-ce55-4e1d-9b1a-d648e9b62c43	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		43	70	0	0	0	0.139131	0	43	70				
RP11-435B5.5	0	broad.mit.edu	37	1	143391935	143391936	+	lincRNA	INS	-	-	TG	rs370521196|rs376899040		TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr1:143391935_143391936insTG	ENST00000428624.1	+	0	2065				RP11-435B5.4_ENST00000423249.1_lincRNA																							ATATATATATATAAAGAGATTG	0.252																																						ENST00000428624.1																			0																																																			0							g.chr1:143391935_143391936insTG																													1.37:g.143391935_143391936insTG						RP11-435B5.4_ENST00000423249.1_lincRNA								0	2065	+									RNA	INS	ENST00000428624.1	37																																																																																						0.252	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000037971.1			2	4						2	4	---	---	---	---
PVRL1	5818	broad.mit.edu	37	11	119535678	119535680	+	In_Frame_Del	DEL	CCT	CCT	-	rs539461545|rs375181781|rs369523216		TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr11:119535678_119535680delCCT	ENST00000264025.3	-	6	1861_1863	c.1331_1333delAGG	c.(1330-1335)gagggc>ggc	p.E444del	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	444	Poly-Glu.				adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)	p.E444fs*>73(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCTCCACCGCcctcctcctcctc	0.66																																						ENST00000264025.3																			1	Deletion - Frameshift(1)	p.E444fs*>73(1)	kidney(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1330-1335)ggc>g		poliovirus receptor-related 1 (herpesvirus entry mediator C)																																				SO:0001651	inframe_deletion	5818				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr11:119535678_119535680delCCT	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9706	protein-coding gene	gene with protein product	"""nectin"""	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.1331_1333delAGG	11.37:g.119535687_119535689delCCT	ENSP00000264025:p.Glu444del					PVRL1_ENST00000341398.2_Intron	p.EG444del	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	6	1861_1863	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	444			Poly-Glu.		O75465|Q2M3D3|Q9HBE6|Q9HBW2	In_Frame_Del	DEL	ENST00000264025.3	37	c.1331_1333delAGG	CCDS8426.1																																																																																				0.660	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1			9	35						9	35	---	---	---	---
C16orf90	646174	broad.mit.edu	37	16	3546140	3546141	+	5'Flank	INS	-	-	A	rs200618809|rs74546027		TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr16:3546140_3546141insA	ENST00000437192.3	-	0	0				LA16c-306E5.3_ENST00000574423.2_RNA	NM_001080524.1	NP_001073993.1	A8MZG2	CP090_HUMAN	chromosome 16 open reading frame 90											large_intestine(1)	1						gactccgtctcaaaaaaaaaaa	0.559																																						ENST00000574423.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr16:3546140_3546141insA		CCDS45397.1	16p13.3	2009-01-29			ENSG00000215131	ENSG00000215131			34455	protein-coding gene	gene with protein product							Standard	NM_001080524		Approved	LOC646174	uc002cvi.3	A8MZG2	OTTHUMG00000154627		16.37:g.3546151_3546151dupA	Exception_encountered													0	111	+									RNA	INS	ENST00000437192.3	37		CCDS45397.1																																																																																				0.559	C16orf90-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346319.2	NM_001080524		3	3						3	3	---	---	---	---
ZNF43	7594	broad.mit.edu	37	19	22002025	22002026	+	Splice_Site	INS	-	-	A			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr19:22002025_22002026insA	ENST00000354959.4	-	2	173		c.e2-2		ZNF43_ENST00000594012.1_Splice_Site|ZNF43_ENST00000598288.1_Splice_Site|ZNF43_ENST00000595461.1_Splice_Site|ZNF43_ENST00000598381.1_Splice_Site	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CAATGGTCCCTAAAAAAAACAA	0.386																																						ENST00000594012.1																			1	Unknown(1)	p.?(1)	ovary(1)	autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51						c.e5-2		zinc finger protein 43																																				SO:0001630	splice_region_variant	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22002025_22002026insA	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.4-2->T	19.37:g.22002033_22002033dupA						ZNF43_ENST00000595461.1_Splice_Site|ZNF43_ENST00000598288.1_Splice_Site|ZNF43_ENST00000598381.1_Splice_Site|ZNF43_ENST00000354959.4_Splice_Site		NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	5	500	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)						A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Splice_Site	INS	ENST00000354959.4	37		CCDS12413.2																																																																																				0.386	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423	Intron	9	157						9	157	---	---	---	---
B9D2	80776	broad.mit.edu	37	19	41858919	41858921	+	IGR	DEL	GCG	GCG	-	rs1800470|rs201844761	byFrequency	TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr19:41858919_41858921delGCG	ENST00000243578.3	-	0	1027				TMEM91_ENST00000604123.1_5'Flank|TGFB1_ENST00000221930.5_In_Frame_Del_p.P10del|TMEM91_ENST00000539627.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron	NM_030578.3	NP_085055.2	Q9BPU9	B9D2_HUMAN	B9 protein domain 2						cilium assembly (GO:0042384)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|TCTN-B9D complex (GO:0036038)	gamma-tubulin binding (GO:0043015)			large_intestine(1)|ovary(1)	2						ggtagcagcagcggcagcagccg	0.724																																						ENST00000221930.5																			0				endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8	GRCh37	CM002115	TGFB1	M	rs1800470	c.(28-33)ctg>c		transforming growth factor, beta 1	Hyaluronidase(DB00070)			542,1784		148,246,769						1.5	1.0			4	965,3903		291,383,1760	no	coding	TGFB1	NM_000660.4		439,629,2529	A1A1,A1R,RR		19.8233,23.3018,20.948				1507,5687				SO:0001628	intergenic_variant	7040				active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding	g.chr19:41858919_41858921delGCG	BC004157	CCDS12579.1	19q13.2	2014-01-28				ENSG00000123810			28636	protein-coding gene	gene with protein product		611951				21763481	Standard	NM_030578		Approved	MGC4093, MKS10	uc002oqj.2	Q9BPU9			19.37:g.41858919_41858921delGCG						TMEM91_ENST00000539627.1_Intron	p.PL10del	NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN			1	895_897	-			10		L -> P (associated with higher bone mineral density and lower frequency of vertebral fractures in Japanese post- menopausal women; dbSNP:rs1800470).				In_Frame_Del	DEL	ENST00000243578.3	37	c.29_31delCGC	CCDS12579.1																																																																																				0.724	B9D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463489.1	NM_030578		2	4						2	4	---	---	---	---
SHANK3	85358	broad.mit.edu	37	22	51159933	51159933	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	2d965468-32aa-4120-a8ca-da4a058ba4ab	g.chr22:51159933delG	ENST00000414786.2	+	21	3857	c.3630delG	c.(3628-3630)ctgfs	p.L1210fs	SHANK3_ENST00000445220.2_Frame_Shift_Del_p.L1226fs|SHANK3_ENST00000262795.3_Frame_Shift_Del_p.L1240fs			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	1224					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CCAGCAGGCTGGGGGGGGCCG	0.721																																						ENST00000414786.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8						c.(3628-3630)ctfs		SH3 and multiple ankyrin repeat domains 3				32,49,3135		5,1,21,6,36,1539	10.0	11.0	11.0			3.5	1.0	22		11	90,87,6825		3,0,84,5,77,3332	no	codingComplex	SHANK3	NM_001080420.1		8,1,105,11,113,4871	A1A1,A1A2,A1R,A2A2,A2R,RR		2.5278,2.5187,2.525			51159933	122,136,9960	1773	3829	5602	SO:0001589	frameshift_variant	85358							g.chr22:51159933delG	AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.3630delG	22.37:g.51159933delG	ENSP00000464552:p.Leu1210fs					SHANK3_ENST00000445220.2_Frame_Shift_Del_p.L1226fs|SHANK3_ENST00000262795.3_Frame_Shift_Del_p.L1240fs	p.L1210fs			F2Z3L0	F2Z3L0_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.22)	21	3857	+		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	1240					D7UT47|Q8TET3	Frame_Shift_Del	DEL	ENST00000414786.2	37	c.3630delG																																																																																					0.721	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420		2	4						2	4	---	---	---	---
ANKRD36BP2	645784	broad.mit.edu	37	2	89083945	89083946	+	RNA	INS	-	-	GC			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	669777a5-ce55-4e1d-9b1a-d648e9b62c43	g.chr2:89083945_89083946insGC	ENST00000393525.3	+	0	576									ankyrin repeat domain 36B pseudogene 2																		GTATTCCTTTTTTTTCAGTGTA	0.347																																						ENST00000393525.3																			0																																																			0							g.chr2:89083945_89083946insGC			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89083945_89083946insGC														0	576	+									RNA	INS	ENST00000393525.3	37																																																																																						0.347	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			7	2						7	2	---	---	---	---
BTN2A2	10385	broad.mit.edu	37	6	26384091	26384093	+	In_Frame_Del	DEL	CCT	CCT	-	rs546542545		TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	669777a5-ce55-4e1d-9b1a-d648e9b62c43	g.chr6:26384091_26384093delCCT	ENST00000356709.4	+	2	153_155	c.42_44delCCT	c.(40-45)tccctc>tcc	p.L24del	BTN2A2_ENST00000416795.2_In_Frame_Del_p.L24del|BTN2A2_ENST00000432533.2_In_Frame_Del_p.L24del|BTN2A2_ENST00000482536.1_In_Frame_Del_p.L24del|BTN2A2_ENST00000352867.2_In_Frame_Del_p.L24del|BTN2A2_ENST00000469230.1_In_Frame_Del_p.L24del	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	24					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						TGCCAGCCTCcctcctcctcctc	0.581																																						ENST00000356709.4																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						c.(40-45)tcc>tc		butyrophilin, subfamily 2, member A2																																				SO:0001651	inframe_deletion	10385				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane		g.chr6:26384091_26384093delCCT	U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.42_44delCCT	6.37:g.26384100_26384102delCCT	ENSP00000349143:p.Leu24del					BTN2A2_ENST00000469230.1_In_Frame_Del_p.SL14del|BTN2A2_ENST00000416795.2_In_Frame_Del_p.SL14del|BTN2A2_ENST00000432533.2_In_Frame_Del_p.SL14del|BTN2A2_ENST00000352867.2_In_Frame_Del_p.SL14del|BTN2A2_ENST00000482536.1_In_Frame_Del_p.SL14del	p.SL14del	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN			2	153_155	+			14					A6NM84|B4DE97|B4DQ01|E9PH07|O00480	In_Frame_Del	DEL	ENST00000356709.4	37	c.42_44delCCT	CCDS4606.1																																																																																				0.581	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1			9	145						9	145	---	---	---	---
SHANK3	85358	broad.mit.edu	37	22	51159933	51159933	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H2-A3RI-01A-11D-A21Z-08	TCGA-H2-A3RI-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fbcb179-d65d-442d-bfc7-0289d85e1959	669777a5-ce55-4e1d-9b1a-d648e9b62c43	g.chr22:51159933delG	ENST00000414786.2	+	21	3857	c.3630delG	c.(3628-3630)ctgfs	p.L1210fs	SHANK3_ENST00000445220.2_Frame_Shift_Del_p.L1226fs|SHANK3_ENST00000262795.3_Frame_Shift_Del_p.L1240fs			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	1224					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CCAGCAGGCTGGGGGGGGCCG	0.721																																						ENST00000414786.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8						c.(3628-3630)ctfs		SH3 and multiple ankyrin repeat domains 3				32,49,3135		5,1,21,6,36,1539	10.0	11.0	11.0			3.5	1.0	22		11	90,87,6825		3,0,84,5,77,3332	no	codingComplex	SHANK3	NM_001080420.1		8,1,105,11,113,4871	A1A1,A1A2,A1R,A2A2,A2R,RR		2.5278,2.5187,2.525			51159933	122,136,9960	1773	3829	5602	SO:0001589	frameshift_variant	85358							g.chr22:51159933delG	AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.3630delG	22.37:g.51159933delG	ENSP00000464552:p.Leu1210fs					SHANK3_ENST00000445220.2_Frame_Shift_Del_p.L1226fs|SHANK3_ENST00000262795.3_Frame_Shift_Del_p.L1240fs	p.L1210fs			F2Z3L0	F2Z3L0_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.22)	21	3857	+		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	1240					D7UT47|Q8TET3	Frame_Shift_Del	DEL	ENST00000414786.2	37	c.3630delG																																																																																					0.721	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420		2	4						2	4	---	---	---	---
