#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
SPPL2C	162540	broad.mit.edu	37	17	43923926	43923926	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr17:43923926G>A	ENST00000329196.5	+	1	1671	c.1654G>A	c.(1654-1656)Gca>Aca	p.A552T	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000581125.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	552						endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)										GCAGGAGGGCGCAGCAGATGC	0.612																																						uc010wka.2																			0											c.(1654-1656)Gca>Aca		Homo sapiens intramembrane protease 5 (IMP5), mRNA.							44.0	44.0	44.0					17																	43923926		2203	4300	6503	SO:0001583	missense	162540					integral to membrane	aspartic-type endopeptidase activity	g.chr17:43923926G>A		CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"""intramembrane protease 5"""	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.1654G>A	17.37:g.43923926G>A	ENSP00000332488:p.Ala552Thr					MAPT-AS1_uc010wjz.2_Intron	p.A552T	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN			0	1671	+			552					Q8TC67|Q8WVZ6	Missense_Mutation	SNP	ENST00000329196.5	37	c.1654G>A	CCDS32673.1	.	.	.	.	.	.	.	.	.	.	G	9.741	1.164896	0.21538	.	.	ENSG00000185294	ENST00000329196	T	0.05199	3.48	4.71	-9.42	0.00610	.	1.376840	0.05156	N	0.496902	T	0.02767	0.0083	N	0.17474	0.49	0.09310	N	1	B	0.18166	0.026	B	0.08055	0.003	T	0.38950	-0.9637	10	0.13853	T	0.58	-21.1943	4.6264	0.12481	0.5924:0.1832:0.1323:0.092	.	552	Q8IUH8	IMP5_HUMAN	T	552	ENSP00000332488:A552T	ENSP00000332488:A552T	A	+	1	0	AC217771.1	41279706	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.226000	0.02953	-2.381000	0.00594	-0.136000	0.14681	GCA		0.612	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441156.1	NM_175882		3	55	0	0	0	1	0	3	55				
ARR3	407	broad.mit.edu	37	X	69502665	69502665	+	IGR	SNP	T	T	C			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chrX:69502665T>C	ENST00000307959.8	+	0	1292				RAB41_ENST00000276066.4_Missense_Mutation_p.I65T|RAB41_ENST00000374473.2_Missense_Mutation_p.I66T	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)						endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						ACTGTTGGAATTGACTTCTTG	0.433																																						uc010nkv.3																			0				breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)	14						c.(193-195)aTt>aCt		Homo sapiens RAB41, member RAS oncogene family (RAB41), mRNA.							216.0	175.0	189.0					X																	69502665		2203	4300	6503	SO:0001628	intergenic_variant	347517				protein transport|small GTPase mediated signal transduction		GTP binding	g.chrX:69502665T>C		CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"""arrestin 4"""	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768		X.37:g.69502665T>C							p.I65T	NM_001032726	NP_001027898	Q5JT25	RAB41_HUMAN			2	240	+			66					B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Missense_Mutation	SNP	ENST00000307959.8	37	c.194T>C	CCDS14399.1	.	.	.	.	.	.	.	.	.	.	T	15.20	2.763570	0.49574	.	.	ENSG00000147127	ENST00000509895;ENST00000374473;ENST00000276066	T;T;T	0.81163	-1.46;-1.46;-1.46	4.44	-2.49	0.06403	Small GTP-binding protein domain (1);	0.000000	0.56097	U	0.000021	T	0.79423	0.4443	L	0.46947	1.48	0.31455	N	0.670222	D;D	0.65815	0.995;0.957	P;P	0.61592	0.852;0.891	T	0.76503	-0.2935	10	0.72032	D	0.01	.	5.4605	0.16614	0.0:0.3344:0.141:0.5246	.	65;66	Q5JT25-2;Q5JT25	.;RAB41_HUMAN	T	15;66;65	ENSP00000421643:I15T;ENSP00000363597:I66T;ENSP00000276066:I65T	ENSP00000276066:I65T	I	+	2	0	RAB41	69419390	1.000000	0.71417	0.001000	0.08648	0.682000	0.39822	1.553000	0.36255	-0.721000	0.04929	0.417000	0.27973	ATT		0.433	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057055.2	NM_004312		7	201	0	0	0	1	0	7	201				
ATG2A	23130	broad.mit.edu	37	11	64677164	64677164	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr11:64677164G>A	ENST00000377264.3	-	14	2208	c.2096C>T	c.(2095-2097)tCc>tTc	p.S699F	ATG2A_ENST00000421419.2_Missense_Mutation_p.S699F	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	699					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.S699F(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						ATGTAGGTCGGAGCAGGTGAG	0.632																																						uc001obx.3																			1	Substitution - Missense(1)	p.S699F(2)	endometrium(1)	breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(2095-2097)tCc>tTc		Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.							53.0	62.0	59.0					11																	64677164		2201	4297	6498	SO:0001583	missense	23130						protein binding	g.chr11:64677164G>A		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.2096C>T	11.37:g.64677164G>A	ENSP00000366475:p.Ser699Phe						p.S699F	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN			13	2211	-			699					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.2096C>T	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.017831	0.35606	.	.	ENSG00000110046	ENST00000421419;ENST00000377264	T;T	0.07567	3.18;3.18	4.28	2.21	0.28008	.	0.432715	0.22203	N	0.063204	T	0.08758	0.0217	L	0.50333	1.59	0.22446	N	0.999097	B	0.30406	0.278	B	0.34385	0.181	T	0.20075	-1.0286	10	0.72032	D	0.01	.	5.6929	0.17839	0.1089:0.1982:0.6929:0.0	.	699	Q2TAZ0	ATG2A_HUMAN	F	699	ENSP00000410522:S699F;ENSP00000366475:S699F	ENSP00000366475:S699F	S	-	2	0	ATG2A	64433740	0.857000	0.29778	0.843000	0.33291	0.509000	0.34042	1.282000	0.33226	1.129000	0.42072	0.561000	0.74099	TCC		0.632	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		5	115	0	0	0	1	0	5	115				
ADCY9	115	broad.mit.edu	37	16	4164430	4164430	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr16:4164430C>A	ENST00000294016.3	-	2	1552	c.1014G>T	c.(1012-1014)atG>atT	p.M338I		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	338					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGATTCTTGGCATCACGGAAT	0.502																																						uc002cvx.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1012-1014)atG>atT		Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.							165.0	155.0	158.0					16																	4164430		2197	4300	6497	SO:0001583	missense	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding	g.chr16:4164430C>A	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.1014G>T	16.37:g.4164430C>A	ENSP00000294016:p.Met338Ile						p.M338I	NM_001116	NP_001107	O60503	ADCY9_HUMAN			1	1553	-			338					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.1014G>T	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127475	0.77549	.	.	ENSG00000162104	ENST00000294016	D	0.84298	-1.83	5.43	5.43	0.79202	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.000000	0.85682	D	0.000000	D	0.92061	0.7484	M	0.73962	2.25	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	D	0.91083	0.4901	10	0.40728	T	0.16	.	19.2808	0.94052	0.0:1.0:0.0:0.0	.	338	O60503	ADCY9_HUMAN	I	338	ENSP00000294016:M338I	ENSP00000294016:M338I	M	-	3	0	ADCY9	4104431	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.818000	0.86416	2.574000	0.86865	0.555000	0.69702	ATG		0.502	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			4	169	0	0	0	1	0	4	169				
COL25A1	84570	broad.mit.edu	37	4	109745340	109745340	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr4:109745340T>C	ENST00000399132.1	-	35	2365	c.1835A>G	c.(1834-1836)aAg>aGg	p.K612R	COL25A1_ENST00000399126.1_Missense_Mutation_p.K612R|COL25A1_ENST00000399127.1_Missense_Mutation_p.K615R	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CTTTTCTCCCTTTTCTCCTAG	0.438																																						uc021xqo.1																			0				NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49						c.(1834-1836)aAg>aGg		Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.							171.0	178.0	176.0					4																	109745340		1965	4159	6124	SO:0001583	missense	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:109745340T>C	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1835A>G	4.37:g.109745340T>C	ENSP00000382083:p.Lys612Arg					COL25A1_uc003hze.1_Missense_Mutation_p.K612R|COL25A1_uc021xqp.1_Missense_Mutation_p.K612R|COL25A1_uc003hzg.3_Missense_Mutation_p.K612R|COL25A1_uc003hzd.3_Non-coding_Transcript|COL25A1_uc003hzf.3_Missense_Mutation_p.K400R	p.K612R	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	33	1891	-		Hepatocellular(203;0.217)	612			Collagen-like 7.			Missense_Mutation	SNP	ENST00000399132.1	37	c.1835A>G	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	T	14.25	2.479246	0.44044	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000399127;ENST00000399126	D;D;D	0.96200	-3.2;-3.36;-3.94	5.9	5.9	0.94986	.	0.093336	0.64402	D	0.000001	D	0.88883	0.6558	N	0.17564	0.495	0.33236	D	0.556625	B;B	0.24186	0.099;0.071	B;B	0.22753	0.041;0.038	D	0.86776	0.1976	9	.	.	.	-7.4013	8.6295	0.33911	0.0:0.1422:0.0:0.8578	.	612;612	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	R	612;614;615;612	ENSP00000382083:K612R;ENSP00000382078:K615R;ENSP00000382077:K612R	.	K	-	2	0	COL25A1	109964789	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.516000	0.45520	2.250000	0.74265	0.533000	0.62120	AAG		0.438	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		3	108	0	0	0	1	0	3	108				
GPC6	10082	broad.mit.edu	37	13	95055374	95055374	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr13:95055374G>A	ENST00000377047.4	+	9	2186	c.1571G>A	c.(1570-1572)cGg>cAg	p.R524Q		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	524					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GATCCCGACCGGAGAGAGGTG	0.597																																						uc001vlt.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38						c.(1570-1572)cGg>cAg		Homo sapiens glypican 6 (GPC6), mRNA.							88.0	89.0	89.0					13																	95055374		2203	4300	6503	SO:0001583	missense	10082					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:95055374G>A	AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"""Proteoglycans / Cell Surface : Glypicans"""	4454	protein-coding gene	gene with protein product	"""glypican proteoglycan 6"""	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.1571G>A	13.37:g.95055374G>A	ENSP00000366246:p.Arg524Gln						p.R524Q	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN			8	2203	+	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)	524					A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	ENST00000377047.4	37	c.1571G>A	CCDS9469.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.753929	0.49362	.	.	ENSG00000183098	ENST00000377047	T	0.49432	0.78	5.84	5.0	0.66597	.	0.051820	0.64402	D	0.000001	T	0.39226	0.1070	L	0.34521	1.04	0.26904	N	0.967041	P	0.50443	0.935	B	0.44085	0.44	T	0.24905	-1.0147	10	0.15066	T	0.55	.	15.2279	0.73364	0.0676:0.0:0.9324:0.0	.	524	Q9Y625	GPC6_HUMAN	Q	524	ENSP00000366246:R524Q	ENSP00000366246:R524Q	R	+	2	0	GPC6	93853375	1.000000	0.71417	0.856000	0.33681	0.605000	0.37080	5.306000	0.65756	1.483000	0.48342	0.561000	0.74099	CGG		0.597	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045460.4	NM_005708		3	122	0	0	0	1	0	3	122				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333	NP_004324	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		30	70	0	0	0	1	0	30	70				
GOLGA2	2801	broad.mit.edu	37	9	131019439	131019439	+	Silent	SNP	G	G	A	rs150141269	byFrequency	TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr9:131019439G>A	ENST00000421699.2	-	26	2928	c.2916C>T	c.(2914-2916)aaC>aaT	p.N972N	AL590708.1_ENST00000408370.1_RNA|GOLGA2_ENST00000609374.1_Silent_p.N960N	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	972					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						GCTCCCGGGGGTTCTGCATCT	0.592													G|||	2	0.000399361	0.0	0.0	5008	,	,		17517	0.0		0.001	False		,,,				2504	0.001					uc011maw.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(2914-2916)aaC>aaT		Homo sapiens golgin A2 (GOLGA2), mRNA.		G		0,4406		0,0,2203	62.0	69.0	66.0		2916	-0.2	0.2	9	dbSNP_134	66	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	GOLGA2	NM_004486.4		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		972/1003	131019439	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	2801					Golgi cisterna membrane	protein binding	g.chr9:131019439G>A	L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.2916C>T	9.37:g.131019439G>A						GOLGA2_uc010mxw.3_Silent_p.N295N|GOLGA2_uc004buh.3_Silent_p.N322N|DQ583972_uc022boe.1_5'Flank	p.N972N	NM_004486	NP_004477	Q08379	GOGA2_HUMAN			25	2929	-			972					Q6GRM9|Q9BRB0|Q9NYF9	Silent	SNP	ENST00000421699.2	37	c.2916C>T	CCDS6896.2																																																																																				0.592	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486		3	97	0	0	0	1	0	3	97				
GPR39	2863	broad.mit.edu	37	2	133402697	133402697	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr2:133402697G>A	ENST00000329321.3	+	2	1349	c.880G>A	c.(880-882)Gta>Ata	p.V294I	GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	294					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)	p.V294I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GACATTGGCCGTATGCTGGAT	0.527																																						uc002ttl.3																			1	Substitution - Missense(1)	p.V294I(2)	prostate(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(880-882)Gta>Ata		Homo sapiens G protein-coupled receptor 39 (GPR39), mRNA.							83.0	73.0	76.0					2																	133402697		2203	4300	6503	SO:0001583	missense	2863					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr2:133402697G>A	AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"""GPCR / Class A : Orphans"""	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.880G>A	2.37:g.133402697G>A	ENSP00000327417:p.Val294Ile					LYPD1_uc002ttm.4_3'UTR|LYPD1_uc002ttn.3_3'UTR|LYPD1_uc002tto.3_3'UTR	p.V294I	NM_001508	NP_001499	O43194	GPR39_HUMAN			1	1349	+			294					B2RC12|B6V9G4|Q08AS2|Q53R01	Missense_Mutation	SNP	ENST00000329321.3	37	c.880G>A	CCDS2170.1	.	.	.	.	.	.	.	.	.	.	G	7.134	0.580535	0.13686	.	.	ENSG00000183840	ENST00000329321	T	0.36699	1.24	5.3	2.55	0.30701	GPCR, rhodopsin-like superfamily (1);	0.295611	0.31660	N	0.007262	T	0.16214	0.0390	N	0.16602	0.42	0.51012	D	0.999906	B	0.14805	0.011	B	0.11329	0.006	T	0.12268	-1.0554	10	0.06365	T	0.9	.	5.7302	0.18036	0.2596:0.2498:0.4906:0.0	.	294	O43194	GPR39_HUMAN	I	294	ENSP00000327417:V294I	ENSP00000327417:V294I	V	+	1	0	GPR39	133119167	0.163000	0.22920	0.486000	0.27416	0.888000	0.51559	0.528000	0.23002	0.389000	0.25086	-0.143000	0.13931	GTA		0.527	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1			3	89	0	0	0	1	0	3	89				
PDHA1	5160	broad.mit.edu	37	X	19369470	19369470	+	Silent	SNP	C	C	T	rs183170654		TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chrX:19369470C>T	ENST00000422285.2	+	4	468	c.363C>T	c.(361-363)caC>caT	p.H121H	PDHA1_ENST00000379806.5_Silent_p.H159H|PDHA1_ENST00000540249.1_Silent_p.H121H|PDHA1_ENST00000545074.1_Silent_p.H128H|PDHA1_ENST00000379805.3_Silent_p.H121H			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	121					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					ACCGGGCTCACGGCTTTACTT	0.517													C|||	1	0.000264901	0.0	0.0	3775	,	,		11597	0.0		0.001	False		,,,				2504	0.0					uc004czh.4																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	GRCh37	CM043047	PDHA1	M	rs183170654	c.(475-477)caC>caT		Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	NADH(DB00157)						110.0	101.0	104.0					X																	19369470		2203	4300	6503	SO:0001819	synonymous_variant	5160				glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity	g.chrX:19369470C>T		CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.363C>T	X.37:g.19369470C>T						PDHA1_uc011mjc.2_Silent_p.H128H|PDHA1_uc004czg.4_Silent_p.H121H|PDHA1_uc011mjd.2_Silent_p.H121H	p.H159H	NM_001173454	NP_001166925	P08559	ODPA_HUMAN			4	622	+	Hepatocellular(33;0.183)		121					A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Silent	SNP	ENST00000422285.2	37	c.477C>T	CCDS14192.1																																																																																				0.517	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055977.1			11	206	0	0	0	1	0	11	206				
RNF170	81790	broad.mit.edu	37	8	42716925	42716925	+	Missense_Mutation	SNP	T	T	G			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr8:42716925T>G	ENST00000534961.1	-	6	946	c.470A>C	c.(469-471)aAt>aCt	p.N157T	RNF170_ENST00000319073.4_Missense_Mutation_p.N61T|RNF170_ENST00000527424.1_Missense_Mutation_p.N157T|RNF170_ENST00000526349.1_Missense_Mutation_p.N73T|RNF170_ENST00000319104.3_Intron	NM_001160223.1	NP_001153695.1	Q96K19	RN170_HUMAN	ring finger protein 170	157					protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			lung(3)	3	all_lung(13;1.25e-11)|Lung NSC(13;3.55e-10)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00645)|Lung NSC(58;0.0176)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GTTATAATCATTAATATCCTG	0.348																																						uc003xpo.3																			0				lung(3)	3						c.(469-471)aAt>aCt		Homo sapiens ring finger protein 170 (RNF170), transcript variant 1, mRNA.							91.0	83.0	85.0					8																	42716925		2203	4300	6503	SO:0001583	missense	81790					integral to membrane	zinc ion binding	g.chr8:42716925T>G	AL136620	CCDS6138.1, CCDS55229.1, CCDS55230.1	8p11.21	2014-01-29				ENSG00000120925		"""RING-type (C3HC4) zinc fingers"""	25358	protein-coding gene	gene with protein product		614649	"""sensory ataxia 1 (autosomal dominant)"""	SNAX1		11230166, 21115467	Standard	NR_027668		Approved	DKFZP564A022, ADSA	uc003xpm.3	Q96K19		ENST00000534961.1:c.470A>C	8.37:g.42716925T>G	ENSP00000445725:p.Asn157Thr					RNF170_uc011lcx.2_Intron|RNF170_uc003xpp.3_Missense_Mutation_p.N61T|RNF170_uc003xpn.3_Missense_Mutation_p.N61T|RNF170_uc010lxp.3_Missense_Mutation_p.N73T|RNF170_uc003xpm.3_Missense_Mutation_p.N157T|RNF170_uc003xpq.4_Missense_Mutation_p.N157T	p.N157T	NM_001160223	NP_001153697	Q96K19	RN170_HUMAN	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)		5	947	-	all_lung(13;1.25e-11)|Lung NSC(13;3.55e-10)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00645)|Lung NSC(58;0.0176)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	157					D3DSY6|E9PIL4|Q7Z483|Q86YC0|Q8IXR7|Q8N2B5|Q8N5G9|Q8NG30|Q9H0V6	Missense_Mutation	SNP	ENST00000534961.1	37	c.470A>C	CCDS6138.1	.	.	.	.	.	.	.	.	.	.	T	11.34	1.610534	0.28712	.	.	ENSG00000120925	ENST00000534961;ENST00000319073;ENST00000527424;ENST00000526349	D;T;D;D	0.86627	-1.63;-1.02;-1.63;-2.15	5.86	3.49	0.39957	.	0.172112	0.64402	D	0.000007	T	0.80193	0.4578	L	0.53729	1.69	0.46396	D	0.999024	B;B;B	0.25772	0.134;0.041;0.065	B;B;B	0.26202	0.067;0.019;0.017	T	0.66933	-0.5798	10	0.14252	T	0.57	-6.4509	5.445	0.16529	0.1281:0.1373:0.0:0.7346	.	157;61;157	Q96K19-2;Q96K19-4;Q96K19	.;.;RN170_HUMAN	T	157;61;157;73	ENSP00000445725:N157T;ENSP00000325969:N61T;ENSP00000434797:N157T;ENSP00000435782:N73T	ENSP00000325969:N61T	N	-	2	0	RNF170	42836082	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	2.387000	0.44389	0.483000	0.27608	0.533000	0.62120	AAT		0.348	RNF170-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383166.1	NM_030954		16	64	0	0	0	1	0	16	64				
TRPV3	162514	broad.mit.edu	37	17	3458080	3458080	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr17:3458080T>C	ENST00000576742.1	-	2	386	c.65A>G	c.(64-66)aAc>aGc	p.N22S	TRPV3_ENST00000572519.1_Missense_Mutation_p.N22S|TRPV3_ENST00000301365.4_Missense_Mutation_p.N22S	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	22					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GATGGCAGGGTTCCCACTGGG	0.622																																						uc002fvr.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35						c.(64-66)aAc>aGc		Homo sapiens transient receptor potential cation channel, subfamily V, member 3 (TRPV3), mRNA.	Menthol(DB00825)						43.0	44.0	43.0					17																	3458080		2203	4300	6503	SO:0001583	missense	162514					integral to membrane	calcium channel activity	g.chr17:3458080T>C	AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.65A>G	17.37:g.3458080T>C	ENSP00000461518:p.Asn22Ser					TRPV3_uc010vrk.1_Non-coding_Transcript|TRPV3_uc002fvt.1_Missense_Mutation_p.N22S|TRPV3_uc010vrj.1_5'UTR|TRPV3_uc002fvu.3_Missense_Mutation_p.N22S	p.N22S	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN			1	387	-			22					Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP	ENST00000576742.1	37	c.65A>G	CCDS11029.1	.	.	.	.	.	.	.	.	.	.	T	7.679	0.688666	0.14973	.	.	ENSG00000167723	ENST00000381913;ENST00000301365	T	0.41400	1.0	4.79	2.46	0.29980	.	0.420762	0.22614	N	0.057785	T	0.20820	0.0501	N	0.14661	0.345	0.21184	N	0.999762	B;B;B	0.17038	0.004;0.02;0.004	B;B;B	0.19946	0.015;0.027;0.015	T	0.06899	-1.0801	10	0.26408	T	0.33	-10.7718	4.6796	0.12729	0.1888:0.0:0.1963:0.6149	.	22;22;22	Q8NET8-3;Q8NET8;Q8NET8-2	.;TRPV3_HUMAN;.	S	22	ENSP00000301365:N22S	ENSP00000301365:N22S	N	-	2	0	TRPV3	3404830	0.732000	0.28121	0.993000	0.49108	0.186000	0.23388	0.930000	0.28858	1.943000	0.56356	0.379000	0.24179	AAC		0.622	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068		3	70	0	0	0	1	0	3	70				
ALG13	79868	broad.mit.edu	37	X	110952238	110952238	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chrX:110952238G>A	ENST00000394780.3	+	5	808	c.796G>A	c.(796-798)Gtc>Atc	p.V266I	ALG13-AS1_ENST00000430794.1_RNA|ALG13_ENST00000251943.4_Missense_Mutation_p.V162I	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	266	Deubiquitinase activity.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						GAAGGCTTGTGTCTCATATAT	0.398																																						uc011msy.2																			0				endometrium(2)|lung(10)|skin(1)	13						c.(796-798)Gtc>Atc		Homo sapiens asparagine-linked glycosylation 13 homolog (S. cerevisiae) (ALG13), transcript variant 1, mRNA.							95.0	75.0	81.0					X																	110952238		1568	3580	5148	SO:0001583	missense	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity|carbohydrate binding	g.chrX:110952238G>A	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.796G>A	X.37:g.110952238G>A	ENSP00000378260:p.Val266Ile					ALG13_uc011msw.2_Missense_Mutation_p.V188I|ALG13_uc011msx.2_Missense_Mutation_p.V162I|ALG13_uc011msz.2_Missense_Mutation_p.V188I|ALG13_uc011mta.2_Missense_Mutation_p.V162I|ALG13_uc011mtb.2_Missense_Mutation_p.V162I	p.V266I	NM_001099922	NP_001093392	Q9NP73	ALG13_HUMAN			4	897	+			266			OTU.		B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	ENST00000394780.3	37	c.796G>A	CCDS55477.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607755	0.66558	.	.	ENSG00000101901	ENST00000251943;ENST00000394780;ENST00000495283	T;T;T	0.44881	0.91;0.91;0.91	5.67	5.67	0.87782	Ovarian tumour, otubain (2);	0.118599	0.34435	U	0.003976	T	0.52805	0.1757	L	0.31476	0.935	0.42711	D	0.993645	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.994;0.997;0.994	T	0.43909	-0.9362	10	0.24483	T	0.36	-4.1853	17.6548	0.88175	0.0:0.0:1.0:0.0	.	188;266;162	Q9NP73-3;Q9NP73;Q9NP73-4	.;ALG13_HUMAN;.	I	162;266;162	ENSP00000251943:V162I;ENSP00000378260:V266I;ENSP00000427093:V162I	ENSP00000251943:V162I	V	+	1	0	ALG13	110838894	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.439000	0.80444	2.527000	0.85204	0.600000	0.82982	GTC		0.398	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		7	6	0	0	0	1	0	7	6				
ESR1	2099	broad.mit.edu	37	6	152332842	152332842	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr6:152332842G>A	ENST00000206249.3	+	5	1510	c.1148G>A	c.(1147-1149)tGg>tAg	p.W383*	ESR1_ENST00000338799.5_Nonsense_Mutation_p.W383*|ESR1_ENST00000427531.2_Nonsense_Mutation_p.W210*|ESR1_ENST00000456483.2_Nonsense_Mutation_p.W271*|ESR1_ENST00000443427.1_Nonsense_Mutation_p.W383*|ESR1_ENST00000440973.1_Nonsense_Mutation_p.W383*|ESR1_ENST00000406599.1_Intron	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	383	Interaction with AKAP13.|Self-association.|Steroid-binding.|Transactivation AF-2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	GAATGTGCCTGGCTAGAGATC	0.488																																						uc010kio.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49						c.(1153-1155)tGg>tAg		Homo sapiens estrogen receptor 1 (ESR1), transcript variant 4, mRNA.	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)						146.0	131.0	136.0					6																	152332842		2203	4300	6503	SO:0001587	stop_gained	2099				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr6:152332842G>A	X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.1148G>A	6.37:g.152332842G>A	ENSP00000206249:p.Trp383*					ESR1_uc003qom.4_Nonsense_Mutation_p.W383*|ESR1_uc010kin.3_Nonsense_Mutation_p.W383*|ESR1_uc010kip.3_Nonsense_Mutation_p.W382*|ESR1_uc003qon.4_Nonsense_Mutation_p.W383*|ESR1_uc010kir.3_Intron|ESR1_uc003qoo.4_Nonsense_Mutation_p.W383*|ESR1_uc010kiq.3_Intron|ESR1_uc021zgz.1_Intron|ESR1_uc011eeu.2_Intron|ESR1_uc011eev.2_Intron|ESR1_uc011eew.2_Intron|ESR1_uc011eet.2_Intron|ESR1_uc010kis.3_Nonsense_Mutation_p.W98*|ESR1_uc021zha.1_Intron|ESR1_uc011eex.2_Nonsense_Mutation_p.W164*|ESR1_uc010kit.1_Intron|ESR1_uc011eey.2_Nonsense_Mutation_p.W120*	p.W385*	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	5	1372	+		Ovarian(120;0.0448)	383			Interaction with AKAP13.|Steroid-binding.		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Nonsense_Mutation	SNP	ENST00000206249.3	37	c.1154G>A	CCDS5234.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.246367|9.246367	0.99113|0.99113	.|.	.|.	ENSG00000091831|ENSG00000091831	ENST00000427531|ENST00000440973;ENST00000338799;ENST00000456483;ENST00000431219;ENST00000443427;ENST00000206249;ENST00000431590;ENST00000544394;ENST00000415488	.|.	.|.	.|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.30978|.	0.0782|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.32134|.	-0.9918|.	3|.	.|0.02654	.|T	.|1	.|.	19.21|19.21	0.93749|0.93749	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	S|X	288|383;383;271;164;383;383;311;210;56	.|.	.|ENSP00000206249:W383X	G|W	+|+	1|2	0|0	ESR1|ESR1	152374535|152374535	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.476000|9.476000	0.97823|0.97823	2.541000|2.541000	0.85698|0.85698	0.591000|0.591000	0.81541|0.81541	GGC|TGG		0.488	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1			3	133	0	0	0	1	0	3	133				
BRIX1	55299	broad.mit.edu	37	5	34915926	34915926	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr5:34915926C>A	ENST00000336767.5	+	1	446	c.83C>A	c.(82-84)cCg>cAg	p.P28Q	RAD1_ENST00000382038.2_5'UTR|BRIX1_ENST00000506023.1_3'UTR|RAD1_ENST00000341754.4_Intron	NM_018321.3	NP_060791.3	Q8TDN6	BRX1_HUMAN	BRX1, biogenesis of ribosomes, homolog (S. cerevisiae)	28					ribosome biogenesis (GO:0042254)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|large_intestine(2)|lung(1)	4						GATGCGGAGCCGCCAGCTAAG	0.617																																						uc003jja.3																			0				central_nervous_system(1)|large_intestine(2)|lung(1)	4						c.(82-84)cCg>cAg		Homo sapiens BRX1, biogenesis of ribosomes, homolog (S. cerevisiae) (BRIX1), mRNA.							43.0	45.0	44.0					5																	34915926		2186	4285	6471	SO:0001583	missense	55299				ribosome biogenesis|translation	nucleolus	ATP binding|aminoacyl-tRNA ligase activity|protein binding	g.chr5:34915926C>A		CCDS34143.1	5p13.2	2009-09-25	2009-09-25	2009-09-25	ENSG00000113460	ENSG00000113460			24170	protein-coding gene	gene with protein product			"""brix domain containing 2"""	BXDC2		12477932	Standard	NM_018321		Approved	BRIX, FLJ11100	uc003jja.3	Q8TDN6	OTTHUMG00000162021	ENST00000336767.5:c.83C>A	5.37:g.34915926C>A	ENSP00000338862:p.Pro28Gln					RAD1_uc003jiw.3_5'Flank|RAD1_uc003jix.3_5'Flank|RAD1_uc003jiy.3_Intron|BRIX1_uc003jiz.3_Missense_Mutation_p.P28Q|BRIX1_uc011col.1_Missense_Mutation_p.P28Q	p.P28Q	NM_018321	NP_060791	Q8TDN6	BRX1_HUMAN			0	107	+			28					A8K0P5|Q3ZTT4|Q8N453|Q96DH1	Missense_Mutation	SNP	ENST00000336767.5	37	c.83C>A	CCDS34143.1	.	.	.	.	.	.	.	.	.	.	c	9.217	1.032429	0.19590	.	.	ENSG00000113460	ENST00000336767	T	0.41065	1.01	4.91	0.542	0.17174	.	1.384590	0.04212	N	0.331986	T	0.22244	0.0536	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.13150	-1.0520	10	0.13853	T	0.58	8.5073	3.7015	0.08384	0.3708:0.4135:0.1351:0.0807	.	28;28	B4E0B8;Q8TDN6	.;BRX1_HUMAN	Q	28	ENSP00000338862:P28Q	ENSP00000338862:P28Q	P	+	2	0	BRIX1	34951683	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.129000	0.15830	-0.122000	0.11766	0.651000	0.88453	CCG		0.617	BRIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366826.2	NM_018321		2	5	0	0	0	1	0	2	5				
UTP14C	9724	broad.mit.edu	37	13	52602984	52602985	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr13:52602984_52602985delAG	ENST00000521776.2	+	2	777_778	c.44_45delAG	c.(43-45)cagfs	p.Q15fs	ALG11_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	15					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		TTGAGCCACCAGGAAGAACTAG	0.47																																						uc001vgb.3																			0				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(43-45)cagfs		Homo sapiens UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) (UTP14C), mRNA.																																				SO:0001589	frameshift_variant	9724				cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome		g.chr13:52602984_52602985delAG	D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"""KIAA0266"""	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.44_45delAG	13.37:g.52602984_52602985delAG	ENSP00000428619:p.Gln15fs					UTP14C_uc001vga.3_3'UTR|UTP14C_uc001vgc.3_Non-coding_Transcript|UTP14C_uc021rjw.1_Frame_Shift_Del_p.Q15fs	p.Q15fs	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN		GBM - Glioblastoma multiforme(99;2.3e-08)	1	606_607	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	15					Q5FWG3|Q92555	Frame_Shift_Del	DEL	ENST00000521776.2	37	c.44_45delAG	CCDS31978.1																																																																																				0.470	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	NM_021645		25	46						25	46	---	---	---	---
TAT	6898	broad.mit.edu	37	16	71607459	71607459	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DJ-A3UU-01A-11D-A22D-08	TCGA-DJ-A3UU-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e7c62e-b120-41cc-b864-64a2ec29a50f	a3c864f4-7c42-4d24-aa7c-1773c3dcc620	g.chr16:71607459delC	ENST00000355962.4	-	4	524	c.391delG	c.(391-393)gcafs	p.A131fs	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	131					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|L-phenylalanine catabolic process (GO:0006559)|response to glucocorticoid (GO:0051384)|response to mercury ion (GO:0046689)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|L-tyrosine:2-oxoglutarate aminotransferase activity (GO:0004838)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	TCTAGGGGTGCCTCAGGACAG	0.438																																					Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)	uc002fap.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29						c.(391-393)gcafs		Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA.	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)						64.0	57.0	59.0					16																	71607459		2188	4273	6461	SO:0001589	frameshift_variant	6898				2-oxoglutarate metabolic process|L-phenylalanine catabolic process|glutamate metabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr16:71607459delC		CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	2.6.1.5		11573	protein-coding gene	gene with protein product		613018					Standard	NM_000353		Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.391delG	16.37:g.71607459delC	ENSP00000348234:p.Ala131fs						p.A131fs	NM_000353	NP_000344	P17735	ATTY_HUMAN		Kidney(780;0.0157)	3	490	-		Ovarian(137;0.125)	131					B2R8I1|D3DWS2	Frame_Shift_Del	DEL	ENST00000355962.4	37	c.391delG	CCDS10903.1																																																																																				0.438	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268989.1			2	4						2	4	---	---	---	---
