#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
FCER2	2208	broad.mit.edu	37	19	7754305	7754305	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr19:7754305G>A	ENST00000346664.5	-	11	952	c.740C>T	c.(739-741)cCa>cTa	p.P247L	FCER2_ENST00000597921.1_Missense_Mutation_p.P247L|FCER2_ENST00000360067.4_Missense_Mutation_p.P246L	NM_001220500.1|NM_002002.4	NP_001207429.1|NP_001993.2	P06734	FCER2_HUMAN	Fc fragment of IgE, low affinity II, receptor for (CD23)	247	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				Notch signaling pathway (GO:0007219)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						GGGCTCCCCTGGAGCCCAGTT	0.677																																						ENST00000346664.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						c.(739-741)cCa>cTa		Fc fragment of IgE, low affinity II, receptor for (CD23)							5.0	6.0	5.0					19																	7754305		2058	4080	6138	SO:0001583	missense	2208				positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding	g.chr19:7754305G>A	M15059	CCDS12184.1	19p13.3	2011-08-30	2006-03-09			ENSG00000104921		"""C-type lectin domain containing"", ""CD molecules"""	3612	protein-coding gene	gene with protein product		151445	"""Fc fragment of IgE, low affinity II, receptor for (CD23A)"""	CD23A, FCE2			Standard	NM_002002		Approved	CLEC4J, CD23	uc002mhm.2	P06734		ENST00000346664.5:c.740C>T	19.37:g.7754305G>A	ENSP00000264072:p.Pro247Leu					FCER2_ENST00000597921.1_Missense_Mutation_p.P247L|FCER2_ENST00000360067.4_Missense_Mutation_p.P246L	p.P247L	NM_001220500.1|NM_002002.4	NP_001207429.1|NP_001993.2	P06734	FCER2_HUMAN			11	952	-			247			C-type lectin.			Missense_Mutation	SNP	ENST00000346664.5	37	c.740C>T	CCDS12184.1	.	.	.	.	.	.	.	.	.	.	G	6.441	0.449598	0.12223	.	.	ENSG00000104921	ENST00000346664;ENST00000360067	T;T	0.20069	2.1;2.1	3.67	-0.232	0.13082	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.18467	0.0443	L	0.55743	1.74	0.09310	N	1	P	0.35226	0.491	B	0.38880	0.284	T	0.31558	-0.9939	9	0.62326	D	0.03	.	1.713	0.02896	0.1269:0.2084:0.4513:0.2134	.	247	P06734	FCER2_HUMAN	L	247;246	ENSP00000264072:P247L;ENSP00000353178:P246L	ENSP00000264072:P247L	P	-	2	0	FCER2	7660305	0.001000	0.12720	0.024000	0.17045	0.007000	0.05969	0.290000	0.18975	0.472000	0.27344	0.478000	0.44815	CCA		0.677	FCER2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461832.1	NM_002002		10	7	0	0	0	0.069234	0	10	7				
RAB11FIP5	26056	broad.mit.edu	37	2	73315689	73315689	+	Missense_Mutation	SNP	G	G	A	rs202050559		TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr2:73315689G>A	ENST00000258098.6	-	3	1297	c.1057C>T	c.(1057-1059)Cgg>Tgg	p.R353W	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	353					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CTGCGGTGCCGCACAGGGCCC	0.627																																						ENST00000258098.6																			0				biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1057-1059)Cgg>Tgg		RAB11 family interacting protein 5 (class I)		G	TRP/ARG	0,4402		0,0,2201	26.0	30.0	28.0		1057	3.2	1.0	2		28	1,8599		0,1,4299	yes	missense	RAB11FIP5	NM_015470.2	101	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	353/654	73315689	1,13001	2201	4300	6501	SO:0001583	missense	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73315689G>A	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.1057C>T	2.37:g.73315689G>A	ENSP00000258098:p.Arg353Trp					RAB11FIP5_ENST00000493523.2_5'UTR	p.R353W	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN			3	1297	-			353					O94939|Q9P0M1	Missense_Mutation	SNP	ENST00000258098.6	37	c.1057C>T	CCDS1923.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795162	0.50208	0.0	1.16E-4	ENSG00000135631	ENST00000258098	T	0.46063	0.88	4.19	3.23	0.37069	.	0.243040	0.25071	N	0.033361	T	0.48484	0.1502	L	0.51422	1.61	0.09310	N	0.999999	D;D	0.76494	0.993;0.999	P;P	0.60415	0.638;0.874	T	0.29274	-1.0017	10	0.72032	D	0.01	-16.2868	6.6445	0.22927	0.0:0.1638:0.5292:0.307	.	353;353	Q9BXF6;Q2Z1P3	RFIP5_HUMAN;.	W	353	ENSP00000258098:R353W	ENSP00000258098:R353W	R	-	1	2	RAB11FIP5	73169197	0.000000	0.05858	0.956000	0.39512	0.867000	0.49689	0.228000	0.17814	2.335000	0.79485	0.462000	0.41574	CGG		0.627	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470		4	82	0	0	0	0.009096	0	4	82				
MYO15A	51168	broad.mit.edu	37	17	18057452	18057452	+	Missense_Mutation	SNP	A	A	G	rs397517287		TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr17:18057452A>G	ENST00000205890.5	+	44	8434	c.8096A>G	c.(8095-8097)tAc>tGc	p.Y2699C	MYO15A_ENST00000585180.1_5'UTR|MYO15A_ENST00000418233.3_5'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2699	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CAGGTGTTTTACCCCAAGGAC	0.637																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(8095-8097)tAc>tGc		myosin XVA							71.0	84.0	80.0					17																	18057452		2034	4193	6227	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18057452A>G	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.8096A>G	17.37:g.18057452A>G	ENSP00000205890:p.Tyr2699Cys					MYO15A_ENST00000418233.3_5'UTR|MYO15A_ENST00000585180.1_5'UTR	p.Y2699C	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			44	8434	+	all_neural(463;0.228)		2699			Tail.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.8096A>G	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	A	17.04	3.286786	0.59867	.	.	ENSG00000091536	ENST00000205890	D	0.89050	-2.46	5.19	5.19	0.71726	.	.	.	.	.	D	0.93562	0.7945	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.93788	0.7090	9	0.59425	D	0.04	.	11.5824	0.50900	0.8511:0.1489:0.0:0.0	.	2699	Q9UKN7	MYO15_HUMAN	C	2699	ENSP00000205890:Y2699C	ENSP00000205890:Y2699C	Y	+	2	0	MYO15A	17998177	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.716000	0.74702	1.952000	0.56665	0.460000	0.39030	TAC		0.637	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		4	108	0	0	0	0.014758	0	4	108				
MAGEB6	158809	broad.mit.edu	37	X	26212809	26212809	+	Silent	SNP	G	G	A			TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chrX:26212809G>A	ENST00000379034.1	+	2	995	c.846G>A	c.(844-846)ctG>ctA	p.L282L		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	282	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						ATAATGCGCTGCCGAAGTCGG	0.542																																						ENST00000379034.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(844-846)ctG>ctA		melanoma antigen family B, 6							133.0	122.0	126.0					X																	26212809		2202	4300	6502	SO:0001819	synonymous_variant	158809							g.chrX:26212809G>A	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.846G>A	X.37:g.26212809G>A							p.L282L	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	995	+			282			MAGE.		Q6GS19|Q9H219	Silent	SNP	ENST00000379034.1	37	c.846G>A	CCDS14217.1																																																																																				0.542	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		8	250	0	0	0	0.038147	0	8	250				
BCL9	607	broad.mit.edu	37	1	147091712	147091712	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr1:147091712G>T	ENST00000234739.3	+	8	2491	c.1751G>T	c.(1750-1752)aGa>aTa	p.R584I		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	584	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CCTGCATCTAGACCAGGTCTT	0.552			T	"""IGH@, IGL@"""	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"""IGH@, IGL@"""		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(1750-1752)aGa>aTa		B-cell CLL/lymphoma 9							83.0	91.0	88.0					1																	147091712		2203	4300	6503	SO:0001583	missense	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147091712G>T	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.1751G>T	1.37:g.147091712G>T	ENSP00000234739:p.Arg584Ile						p.R584I	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			8	2491	+	all_hematologic(923;0.115)		584			Pro-rich.		Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	c.1751G>T	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963895	0.74131	.	.	ENSG00000116128	ENST00000234739	T	0.50277	0.75	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.58921	0.2156	L	0.55481	1.735	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.66196	0.942;0.942	T	0.60367	-0.7277	10	0.87932	D	0	-13.6678	19.3785	0.94521	0.0:0.0:1.0:0.0	.	584;584	Q1JQ81;O00512	.;BCL9_HUMAN	I	584	ENSP00000234739:R584I	ENSP00000234739:R584I	R	+	2	0	BCL9	145558336	1.000000	0.71417	0.958000	0.39756	0.972000	0.66771	6.350000	0.73017	2.815000	0.96918	0.561000	0.74099	AGA		0.552	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		6	213	1	0	5.9392e-07	0.021553	8.31488e-07	6	213				
GOT2	2806	broad.mit.edu	37	16	58743338	58743338	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr16:58743338C>A	ENST00000245206.5	-	9	1281	c.1153G>T	c.(1153-1155)Ggg>Tgg	p.G385W	GOT2_ENST00000434819.2_Missense_Mutation_p.G342W	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	385					2-oxoglutarate metabolic process (GO:0006103)|4-hydroxyproline catabolic process (GO:0019470)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid transport (GO:0015908)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|oxaloacetate metabolic process (GO:0006107)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)	GGCTTTAGCCCTGTGAAACAG	0.458																																						ENST00000245206.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22						c.(1153-1155)Ggg>Tgg		glutamic-oxaloacetic transaminase 2, mitochondrial	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						134.0	114.0	121.0					16																	58743338		2198	4300	6498	SO:0001583	missense	2806				aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding	g.chr16:58743338C>A		CCDS10801.1, CCDS67045.1	16q21	2013-05-29	2013-05-29		ENSG00000125166	ENSG00000125166	2.6.1.1		4433	protein-coding gene	gene with protein product	"""kynurenine aminotransferase IV"", ""aspartate aminotransferase 2"", ""aspartate transaminase 2"""	138150	"""glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2)"""			17442055	Standard	NM_002080		Approved	mitAAT, KATIV, KAT4	uc002eof.1	P00505	OTTHUMG00000133769	ENST00000245206.5:c.1153G>T	16.37:g.58743338C>A	ENSP00000245206:p.Gly385Trp					GOT2_ENST00000434819.2_Missense_Mutation_p.G342W	p.G385W	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN			9	1281	-			385					B4DJA6|E7ERW2|Q53FL3|Q9BWA3	Missense_Mutation	SNP	ENST00000245206.5	37	c.1153G>T	CCDS10801.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.441008	0.83993	.	.	ENSG00000125166	ENST00000245206;ENST00000434819	T;T	0.26518	1.73;1.73	5.25	5.25	0.73442	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.69278	0.3093	H	0.98525	4.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82916	-0.0220	9	.	.	.	-13.867	17.8555	0.88761	0.0:1.0:0.0:0.0	.	342;385	E7ERW2;P00505	.;AATM_HUMAN	W	385;342	ENSP00000245206:G385W;ENSP00000394100:G342W	.	G	-	1	0	GOT2	57300839	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.717000	0.84732	2.446000	0.82766	0.650000	0.86243	GGG		0.458	GOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258289.3			4	170	1	0	0.00909568	0.009096	0.0112358	4	170				
HPD	3242	broad.mit.edu	37	12	122292689	122292689	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr12:122292689C>T	ENST00000289004.4	-	7	369	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	RP11-7M8.2_ENST00000543848.1_RNA|HPD_ENST00000543163.1_Missense_Mutation_p.E73K	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	112					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	GCGCCCCGTTCCCGTGCTTTC	0.597																																						ENST00000543163.1																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18						c.(217-219)Gaa>Aaa		4-hydroxyphenylpyruvate dioxygenase	Nitisinone(DB00348)						133.0	114.0	120.0					12																	122292689		2203	4300	6503	SO:0001583	missense	3242				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding	g.chr12:122292689C>T	BC014790	CCDS9224.1, CCDS53839.1	12q24.31	2013-09-19			ENSG00000158104	ENSG00000158104	1.13.11.27		5147	protein-coding gene	gene with protein product	"""glyoxalase domain containing 3"""	609695		PPD			Standard	NM_001171993		Approved	4-HPPD, 4HPPD, GLOD3	uc001ubj.3	P32754	OTTHUMG00000169081	ENST00000289004.4:c.334G>A	12.37:g.122292689C>T	ENSP00000289004:p.Glu112Lys					HPD_ENST00000289004.4_Missense_Mutation_p.E112K	p.E73K	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	8	662	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		112					A8K461|B3KQ63|Q13234	Missense_Mutation	SNP	ENST00000289004.4	37	c.217G>A	CCDS9224.1	.	.	.	.	.	.	.	.	.	.	C	9.485	1.099158	0.20552	.	.	ENSG00000158104	ENST00000289004;ENST00000545969;ENST00000543163	T;T	0.64438	-0.1;-0.1	5.41	5.41	0.78517	Glyoxalase/fosfomycin resistance/dioxygenase (1);	0.222718	0.45606	D	0.000355	T	0.44705	0.1306	N	0.20483	0.58	0.80722	D	1	B	0.06786	0.001	B	0.13407	0.009	T	0.35549	-0.9784	10	0.09843	T	0.71	-23.7139	13.875	0.63647	0.0:0.8474:0.1526:0.0	.	112	P32754	HPPD_HUMAN	K	112;109;73	ENSP00000289004:E112K;ENSP00000441677:E73K	ENSP00000289004:E112K	E	-	1	0	HPD	120777072	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.431000	0.59915	2.542000	0.85734	0.563000	0.77884	GAA		0.597	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402184.1	NM_002150		55	65	0	0	0	0.139131	0	55	65				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	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		42	79	0	0	0	0.111260	0	42	79				
SLITRK1	114798	broad.mit.edu	37	13	84453858	84453858	+	Silent	SNP	G	G	A			TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr13:84453858G>A	ENST00000377084.2	-	1	2670	c.1785C>T	c.(1783-1785)aaC>aaT	p.N595N		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	595					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		ACCCAGTGCTGTTTTTACTGT	0.542																																						ENST00000377084.2																			0				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80						c.(1783-1785)aaC>aaT		SLIT and NTRK-like family, member 1							99.0	87.0	91.0					13																	84453858		2203	4300	6503	SO:0001819	synonymous_variant	114798					integral to membrane		g.chr13:84453858G>A	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1785C>T	13.37:g.84453858G>A							p.N595N	NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	2670	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	595					Q5U5I6|Q96SF9	Silent	SNP	ENST00000377084.2	37	c.1785C>T	CCDS9464.1																																																																																				0.542	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		4	62	0	0	0	0.014758	0	4	62				
NUMA1	4926	broad.mit.edu	37	11	71734181	71734181	+	Missense_Mutation	SNP	T	T	C	rs140051813	byFrequency	TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr11:71734181T>C	ENST00000393695.3	-	6	552	c.221A>G	c.(220-222)cAt>cGt	p.H74R	NUMA1_ENST00000358965.6_Missense_Mutation_p.H74R|NUMA1_ENST00000351960.6_Missense_Mutation_p.H74R|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GGAAGAGGGATGTTTTCGATT	0.493			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(220-222)cAt>cGt		nuclear mitotic apparatus protein 1							145.0	127.0	133.0					11																	71734181		2200	4293	6493	SO:0001583	missense	0				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71734181T>C	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.221A>G	11.37:g.71734181T>C	ENSP00000377298:p.His74Arg					NUMA1_ENST00000358965.6_Missense_Mutation_p.H74R|NUMA1_ENST00000351960.6_Missense_Mutation_p.H74R	p.H74R	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			6	552	-			74						Missense_Mutation	SNP	ENST00000393695.3	37	c.221A>G	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	T	12.23	1.874908	0.33069	.	.	ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000542977;ENST00000537217;ENST00000544238;ENST00000543937;ENST00000543009;ENST00000537930;ENST00000544129;ENST00000535947;ENST00000535087;ENST00000368959;ENST00000541719;ENST00000366394	T;T;T;T;T;T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02	4.76	3.59	0.41128	.	0.261397	0.33895	N	0.004442	T	0.37320	0.0999	L	0.57536	1.79	0.28089	N	0.931893	B;B;B;B;B;B	0.29646	0.006;0.002;0.002;0.253;0.003;0.16	B;B;B;B;B;B	0.36244	0.018;0.006;0.006;0.22;0.009;0.087	T	0.27331	-1.0077	10	0.10902	T	0.67	.	8.774	0.34751	0.1685:0.0:0.0:0.8315	.	74;74;74;74;74;74	F5H6Y5;F5H4J1;A8K394;Q14980-2;Q14980;Q9BTE9	.;.;.;.;NUMA1_HUMAN;.	R	74	ENSP00000260051:H74R;ENSP00000351851:H74R;ENSP00000377298:H74R;ENSP00000444880:H74R;ENSP00000442936:H74R;ENSP00000442761:H74R;ENSP00000439759:H74R;ENSP00000438821:H74R;ENSP00000438589:H74R;ENSP00000439092:H74R;ENSP00000444175:H74R;ENSP00000439576:H74R	ENSP00000260051:H74R	H	-	2	0	NUMA1	71411829	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	1.413000	0.34725	0.913000	0.36797	0.533000	0.62120	CAT		0.493	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			63	97	0	0	0	0.139131	0	63	97				
NLRP1	22861	broad.mit.edu	37	17	5487102	5487102	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr17:5487102G>A	ENST00000572272.1	-	1	175	c.176C>T	c.(175-177)gCt>gTt	p.A59V	NLRP1_ENST00000354411.3_Missense_Mutation_p.A59V|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000577119.1_Missense_Mutation_p.A59V|NLRP1_ENST00000345221.3_Missense_Mutation_p.A59V|NLRP1_ENST00000262467.5_Missense_Mutation_p.A59V|NLRP1_ENST00000269280.4_Missense_Mutation_p.A59V			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	59	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CCCATACTGAGCCACCAGGTA	0.637																																						ENST00000345221.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(175-177)gCt>gTt		NLR family, pyrin domain containing 1							33.0	24.0	27.0					17																	5487102		2189	4262	6451	SO:0001583	missense	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5487102G>A	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.176C>T	17.37:g.5487102G>A	ENSP00000460475:p.Ala59Val					NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Missense_Mutation_p.A59V|NLRP1_ENST00000572272.1_Missense_Mutation_p.A59V|NLRP1_ENST00000577119.1_Missense_Mutation_p.A59V|NLRP1_ENST00000354411.3_Missense_Mutation_p.A59V|NLRP1_ENST00000269280.4_Missense_Mutation_p.A59V	p.A59V	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN			1	730	-		Colorectal(1115;3.48e-05)	59			DAPIN.		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	c.176C>T	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656140	0.67586	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	3.96	2.89	0.33648	Pyrin (2);DEATH-like (2);	0.431953	0.17232	N	0.181903	T	0.60702	0.2289	M	0.74881	2.28	0.09310	N	1	D;D;D;D;D	0.69078	0.996;0.996;0.997;0.996;0.997	P;P;P;P;P	0.61533	0.824;0.824;0.89;0.824;0.89	T	0.48068	-0.9067	10	0.48119	T	0.1	.	8.9609	0.35847	0.0:0.2281:0.7719:0.0	.	59;59;59;59;59	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;NALP1_HUMAN;.;.	V	59	ENSP00000442029:A59V;ENSP00000262467:A59V;ENSP00000269280:A59V;ENSP00000346390:A59V;ENSP00000324366:A59V	ENSP00000262467:A59V	A	-	2	0	NLRP1	5427826	0.431000	0.25546	0.013000	0.15412	0.759000	0.43091	1.459000	0.35234	2.225000	0.72522	0.555000	0.69702	GCT		0.637	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		2	6	0	0	0	0.115264	0	2	6				
SLC38A4	55089	broad.mit.edu	37	12	47168909	47168909	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr12:47168909A>T	ENST00000447411.1	-	13	1428	c.1222T>A	c.(1222-1224)Tta>Ata	p.L408I	SLC38A4_ENST00000266579.4_Missense_Mutation_p.L408I	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	408					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					GGGATGTCTAATGTATACACT	0.438																																						ENST00000447411.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21						c.(1222-1224)Tta>Ata		solute carrier family 38, member 4							159.0	141.0	147.0					12																	47168909		2203	4300	6503	SO:0001583	missense	55089				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:47168909A>T	AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"""Solute carriers"""	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.1222T>A	12.37:g.47168909A>T	ENSP00000389843:p.Leu408Ile					SLC38A4_ENST00000266579.4_Missense_Mutation_p.L408I	p.L408I	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN			13	1428	-	Lung SC(27;0.192)|Renal(347;0.236)		408					A8K553	Missense_Mutation	SNP	ENST00000447411.1	37	c.1222T>A	CCDS8750.1	.	.	.	.	.	.	.	.	.	.	A	15.05	2.717134	0.48622	.	.	ENSG00000139209	ENST00000447411;ENST00000266579	T;T	0.04603	3.59;3.59	5.94	5.94	0.96194	.	0.119095	0.64402	D	0.000008	T	0.03178	0.0093	N	0.04203	-0.255	0.25696	N	0.98563	B	0.06786	0.001	B	0.08055	0.003	T	0.46456	-0.9190	10	0.23302	T	0.38	-18.7464	16.3908	0.83537	1.0:0.0:0.0:0.0	.	408	Q969I6	S38A4_HUMAN	I	408	ENSP00000389843:L408I;ENSP00000266579:L408I	ENSP00000266579:L408I	L	-	1	2	SLC38A4	45455176	1.000000	0.71417	0.980000	0.43619	0.613000	0.37349	7.518000	0.81795	2.269000	0.75478	0.455000	0.32223	TTA		0.438	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404574.1			60	95	0	0	0	0.139131	0	60	95				
ZNF607	84775	broad.mit.edu	37	19	38190685	38190685	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr19:38190685C>A	ENST00000355202.4	-	5	942	c.347G>T	c.(346-348)tGt>tTt	p.C116F	CTD-2528L19.4_ENST00000586606.2_Splice_Site|ZNF607_ENST00000395835.3_Missense_Mutation_p.C115F	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	116					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)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			ACATTGCTTACACTCATATGG	0.368																																						ENST00000355202.4																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27						c.(346-348)tGt>tTt		zinc finger protein 607							137.0	141.0	139.0					19																	38190685		2203	4300	6503	SO:0001583	missense	84775				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38190685C>A	AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.347G>T	19.37:g.38190685C>A	ENSP00000347338:p.Cys116Phe					ZNF607_ENST00000395835.3_Missense_Mutation_p.C115F|CTD-2528L19.4_ENST00000586606.2_Splice_Site	p.C116F	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)		5	942	-			116					F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	ENST00000355202.4	37	c.347G>T	CCDS33006.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.202983	0.38905	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	D;D	0.85088	-1.94;-1.94	1.96	1.96	0.26148	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94251	0.8154	H	0.97158	3.95	0.24826	N	0.992558	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.85599	0.1251	9	0.62326	D	0.03	.	10.9347	0.47239	0.0:1.0:0.0:0.0	.	116;115	Q96SK3;F5H141	ZN607_HUMAN;.	F	116;115	ENSP00000347338:C116F;ENSP00000438015:C115F	ENSP00000347338:C116F	C	-	2	0	ZNF607	42882525	0.562000	0.26586	0.027000	0.17364	0.012000	0.07955	2.836000	0.48183	1.080000	0.41073	0.561000	0.74099	TGT		0.368	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	NM_032689		88	132	1	0	4.37026e-21	0.139131	6.55538e-21	88	132				
C11orf63	79864	broad.mit.edu	37	11	122774973	122774973	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr11:122774973G>T	ENST00000531316.1	+	2	777	c.685G>T	c.(685-687)Gtg>Ttg	p.V229L	C11orf63_ENST00000307257.6_Missense_Mutation_p.V229L|C11orf63_ENST00000227349.2_Missense_Mutation_p.V229L			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	229					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		TTCTCCGTACGTGAAGAGCTC	0.512																																						ENST00000227349.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(685-687)Gtg>Ttg		chromosome 11 open reading frame 63							121.0	101.0	108.0					11																	122774973		2202	4299	6501	SO:0001583	missense	79864							g.chr11:122774973G>T	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.685G>T	11.37:g.122774973G>T	ENSP00000431669:p.Val229Leu					C11orf63_ENST00000531316.1_Missense_Mutation_p.V229L|C11orf63_ENST00000307257.6_Missense_Mutation_p.V229L	p.V229L	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	3	982	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	229					A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	ENST00000531316.1	37	c.685G>T	CCDS8438.1	.	.	.	.	.	.	.	.	.	.	G	3.208	-0.162187	0.06502	.	.	ENSG00000109944	ENST00000307257;ENST00000227349;ENST00000531316	T;T	0.40225	1.04;1.04	5.65	-8.44	0.00950	.	1.159560	0.06549	N	0.744570	T	0.06690	0.0171	N	0.00116	-2.08	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.39461	-0.9613	10	0.07030	T	0.85	0.4346	6.7368	0.23413	0.1178:0.4837:0.292:0.1065	.	229;229	Q6NUN7;Q6NUN7-2	CK063_HUMAN;.	L	229	ENSP00000227349:V229L;ENSP00000431669:V229L	ENSP00000227349:V229L	V	+	1	0	C11orf63	122280183	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-1.705000	0.01896	-0.706000	0.05028	-0.150000	0.13652	GTG		0.512	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		5	181	1	0	1.23904e-05	0.014758	1.62624e-05	5	181				
SDHAP1	255812	broad.mit.edu	37	3	195711343	195711344	+	RNA	INS	-	-	T	rs200252504	byFrequency	TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr3:195711343_195711344insT	ENST00000427841.1	-	0	585					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		AAAGACTTCTCTGTGAGCTTTG	0.381													|||unknown(ALL_OTHER_Ns)	3992	0.797125	0.888	0.8112	5008	,	,		14038	0.8571		0.6809	False		,,,				2504	0.7219				Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195711343_195711344insT	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195711344_195711344dupT								NR_003264.2						0	585	-									RNA	INS	ENST00000427841.1	37																																																																																						0.381	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			4	6						4	6	---	---	---	---
RP11-122F24.1	0	broad.mit.edu	37	5	7045029	7045029	+	lincRNA	DEL	T	T	-			TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr5:7045029delT	ENST00000512838.1	+	0	154				RNA5SP176_ENST00000390956.1_RNA																							tctttctttcttttttttttt	0.463																																						ENST00000512838.1																			0																																																			0							g.chr5:7045029delT																													5.37:g.7045029delT														0	154	+									RNA	DEL	ENST00000512838.1	37																																																																																						0.463	RP11-122F24.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000365591.1			2	4						2	4	---	---	---	---
RP11-521C20.2	0	broad.mit.edu	37	15	40369522	40369529	+	lincRNA	DEL	GGAAGGAA	GGAAGGAA	-	rs377352536		TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr15:40369522_40369529delGGAAGGAA	ENST00000560376.1	-	0	47																											agggatggagggaaggaaggaaggaagg	0.476																																						ENST00000560376.1																			0																																																			0							g.chr15:40369522_40369529delGGAAGGAA																													15.37:g.40369530_40369537delGGAAGGAA														0	47	-									RNA	DEL	ENST00000560376.1	37																																																																																						0.476	RP11-521C20.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000418272.1			2	4						2	4	---	---	---	---
BFAR	51283	broad.mit.edu	37	16	14761616	14761617	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr16:14761616_14761617delTT	ENST00000261658.2	+	8	1562_1563	c.1285_1286delTT	c.(1285-1287)tttfs	p.F429fs	BFAR_ENST00000563971.1_Frame_Shift_Del_p.F304fs|BFAR_ENST00000426842.2_Frame_Shift_Del_p.F301fs|BFAR_ENST00000563082.1_3'UTR	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	429					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						GGCCCTGTACTTTAACCCAATT	0.495																																						ENST00000261658.2																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						c.(1285-1287)tfs		bifunctional apoptosis regulator																																				SO:0001589	frameshift_variant	51283				anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding	g.chr16:14761616_14761617delTT	AF173003	CCDS10554.1	16p13.2	2013-01-10			ENSG00000103429	ENSG00000103429		"""RING-type (C3HC4) zinc fingers"", ""Sterile alpha motif (SAM) domain containing"""	17613	protein-coding gene	gene with protein product						10716992	Standard	NM_016561		Approved	BAR, RNF47	uc002dco.3	Q9NZS9	OTTHUMG00000129848	ENST00000261658.2:c.1285_1286delTT	16.37:g.14761616_14761617delTT	ENSP00000261658:p.Phe429fs					BFAR_ENST00000426842.2_Frame_Shift_Del_p.F301fs|BFAR_ENST00000563971.1_Frame_Shift_Del_p.F304fs|BFAR_ENST00000563082.1_3'UTR	p.F429fs	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN			8	1562_1563	+			429					A8K4Z9|B4DUT0|D3DUG8	Frame_Shift_Del	DEL	ENST00000261658.2	37	c.1285_1286delTT	CCDS10554.1																																																																																				0.495	BFAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252088.1	NM_016561		9	247						9	247	---	---	---	---
PKD1L2	114780	broad.mit.edu	37	16	81201441	81201441	+	RNA	DEL	G	G	-	rs35726804		TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr16:81201441delG	ENST00000531391.1	-	0	1488				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000337114.4_RNA	NM_001278423.1	NP_001265352.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						tctgcaagatggggggggaaa	0.567																																						ENST00000533478.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44								polycystic kidney disease 1-like 2																																						114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81201441delG	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81201441delG						PKD1L2_ENST00000525539.1_RNA		NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN			0	1149	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	DEL	ENST00000531391.1	37																																																																																						0.567	PKD1L2-006	KNOWN	basic	protein_coding	polymorphic_pseudogene	OTTHUMT00000387976.1			6	1						6	1	---	---	---	---
FAM27L	284123	broad.mit.edu	37	17	21825841	21825842	+	lincRNA	DEL	TG	TG	-	rs374691217		TCGA-DJ-A13T-01A-11D-A10S-08	TCGA-DJ-A13T-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8acbdbd-68b9-4fb3-97c8-90b290a1f098	8f7b0d92-d0ba-4881-a695-6fb6fed6d455	g.chr17:21825841_21825842delTG	ENST00000426869.3	+	0	278					NR_028336.1		Q8N5T8	FA27L_HUMAN	family with sequence similarity 27-like											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		tcggtttgtatgtgtgtgtgtg	0.5																																						ENST00000426869.3																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14								family with sequence similarity 27-like																																						284123							g.chr17:21825841_21825842delTG	BC031617		17p11.2	2014-01-28				ENSG00000178130			32410	protein-coding gene	gene with protein product							Standard	NR_028336		Approved	MGC35151	uc002gyz.4	Q8N5T8			17.37:g.21825851_21825852delTG								NR_028336.1					UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)	0	278	+									RNA	DEL	ENST00000426869.3	37																																																																																						0.500	FAM27L-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389059.2	NM_203392		4	6						4	6	---	---	---	---
