#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
KIAA1549	57670	broad.mit.edu	37	7	138579148	138579148	+	Silent	SNP	G	G	A			TCGA-DJ-A2PQ-01A-11D-A18F-08	TCGA-DJ-A2PQ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa0bb18-d8f2-481e-bba2-0afa565b9cf0	b817f147-c91b-4189-925b-c23951bff31f	g.chr7:138579148G>A	ENST00000422774.1	-	10	4020	c.3972C>T	c.(3970-3972)tgC>tgT	p.C1324C	KIAA1549_ENST00000242365.4_Silent_p.C1274C|KIAA1549_ENST00000440172.1_Silent_p.C1324C			Q9HCM3	K1549_HUMAN	KIAA1549	1324						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TGTCTGTGCGGCATAGTTTCC	0.527			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	uc011kql.2				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(3970-3972)tgC>tgT		Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.							167.0	161.0	163.0					7																	138579148		2139	4246	6385	SO:0001819	synonymous_variant	57670					integral to membrane		g.chr7:138579148G>A		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.3972C>T	7.37:g.138579148G>A						KIAA1549_uc011kqi.2_Silent_p.C108C|KIAA1549_uc011kqk.2_Silent_p.C108C|KIAA1549_uc011kqj.2_Silent_p.C1324C	p.C1324C	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN			9	4021	-			1324					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Silent	SNP	ENST00000422774.1	37	c.3972C>T	CCDS56513.1																																																																																				0.527	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			4	117	0	0	0	1	0	4	117				
RDH10	157506	broad.mit.edu	37	8	74231385	74231385	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2PQ-01A-11D-A18F-08	TCGA-DJ-A2PQ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa0bb18-d8f2-481e-bba2-0afa565b9cf0	b817f147-c91b-4189-925b-c23951bff31f	g.chr8:74231385A>G	ENST00000240285.5	+	3	1258	c.580A>G	c.(580-582)Aca>Gca	p.T194A	RP11-434I12.2_ENST00000517475.1_RNA|RDH10_ENST00000519380.1_Missense_Mutation_p.T29A|RP11-434I12.2_ENST00000514599.1_RNA	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	194					bud elongation involved in lung branching (GO:0060449)|ear development (GO:0043583)|embryonic camera-type eye development (GO:0031076)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|gonad development (GO:0008406)|in utero embryonic development (GO:0001701)|metanephros development (GO:0001656)|neural crest cell development (GO:0014032)|nose development (GO:0043584)|phototransduction, visible light (GO:0007603)|primary lung bud formation (GO:0060431)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			TCATATTGTGACAGTTGCAAG	0.368																																						uc003xzi.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11						c.(580-582)Aca>Gca		Homo sapiens retinol dehydrogenase 10 (all-trans) (RDH10), mRNA.							255.0	230.0	238.0					8																	74231385		2203	4300	6503	SO:0001583	missense	157506				retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	NADP-retinol dehydrogenase activity|binding|retinol dehydrogenase activity	g.chr8:74231385A>G	AF456765	CCDS6213.1	8q21.11	2011-09-20			ENSG00000121039	ENSG00000121039	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	19975	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 4"""	607599				12407145, 19027726	Standard	NM_172037		Approved	SDR16C4	uc003xzi.3	Q8IZV5	OTTHUMG00000164492	ENST00000240285.5:c.580A>G	8.37:g.74231385A>G	ENSP00000240285:p.Thr194Ala					RDH10_uc003xzj.3_Missense_Mutation_p.T29A|AK128216_uc003xzk.1_Intron	p.T194A	NM_172037	NP_742034	Q8IZV5	RDH10_HUMAN	Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)		2	1268	+	Breast(64;0.0954)		194						Missense_Mutation	SNP	ENST00000240285.5	37	c.580A>G	CCDS6213.1	.	.	.	.	.	.	.	.	.	.	A	19.74	3.883320	0.72410	.	.	ENSG00000121039	ENST00000240285;ENST00000521928;ENST00000519380	D;D;T	0.89485	-2.52;-2.52;0.71	5.42	5.42	0.78866	NAD(P)-binding domain (1);	0.048467	0.85682	D	0.000000	D	0.85191	0.5640	L	0.41236	1.265	0.58432	D	0.999998	P	0.41784	0.762	B	0.43990	0.438	T	0.82886	-0.0235	10	0.27785	T	0.31	.	10.8072	0.46524	0.8589:0.0:0.0:0.141	.	194	Q8IZV5	RDH10_HUMAN	A	194;29;29	ENSP00000240285:T194A;ENSP00000429727:T29A;ENSP00000428132:T29A	ENSP00000240285:T194A	T	+	1	0	RDH10	74393939	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.973000	0.76116	2.275000	0.75901	0.528000	0.53228	ACA		0.368	RDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378982.1			3	109	0	0	0	1	0	3	109				
INHBE	83729	broad.mit.edu	37	12	57850257	57850257	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2PQ-01A-11D-A18F-08	TCGA-DJ-A2PQ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa0bb18-d8f2-481e-bba2-0afa565b9cf0	b817f147-c91b-4189-925b-c23951bff31f	g.chr12:57850257G>A	ENST00000266646.2	+	2	895	c.679G>A	c.(679-681)Gag>Aag	p.E227K	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	227					growth (GO:0040007)	extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						CCGAGCCAATGAGCCTGGAGC	0.602											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(191;1808 2166 15720 36624 50371)	uc001snw.3																			0				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						c.(679-681)Gag>Aag		Homo sapiens inhibin, beta E (INHBE), mRNA.							68.0	81.0	77.0					12																	57850257		2203	4300	6503	SO:0001583	missense	83729				growth	extracellular region	growth factor activity|hormone activity	g.chr12:57850257G>A		CCDS8939.1	12q13.2	2008-02-05				ENSG00000139269			24029	protein-coding gene	gene with protein product		612031				12242034	Standard	NM_031479		Approved	activin, MGC4638	uc001snw.3	P58166		ENST00000266646.2:c.679G>A	12.37:g.57850257G>A	ENSP00000266646:p.Glu227Lys		OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1026		p.E227K	NM_031479	NP_113667	P58166	INHBE_HUMAN			1	903	+			227						Missense_Mutation	SNP	ENST00000266646.2	37	c.679G>A	CCDS8939.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.068344	0.36470	.	.	ENSG00000139269	ENST00000547970;ENST00000266646	D;T	0.81739	-1.53;-1.27	4.79	3.89	0.44902	.	0.627936	0.16611	N	0.206900	T	0.76478	0.3993	L	0.58428	1.81	0.09310	N	1	B	0.12630	0.006	B	0.12837	0.008	T	0.63065	-0.6720	10	0.25751	T	0.34	-8.989	13.6832	0.62499	0.0:0.0:0.844:0.156	.	227	P58166	INHBE_HUMAN	K	172;227	ENSP00000450212:E172K;ENSP00000266646:E227K	ENSP00000266646:E227K	E	+	1	0	INHBE	56136524	0.392000	0.25229	0.004000	0.12327	0.520000	0.34377	3.371000	0.52379	1.365000	0.46057	0.655000	0.94253	GAG		0.602	INHBE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406773.1	NM_031479		5	124	0	0	0	1	0	5	124				
ZNF80	7634	broad.mit.edu	37	3	113955140	113955140	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A2PQ-01A-11D-A18F-08	TCGA-DJ-A2PQ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa0bb18-d8f2-481e-bba2-0afa565b9cf0	b817f147-c91b-4189-925b-c23951bff31f	g.chr3:113955140G>T	ENST00000482457.2	-	1	1285	c.782C>A	c.(781-783)gCc>gAc	p.A261D	RP11-553L6.2_ENST00000481773.1_RNA|RP11-553L6.2_ENST00000493033.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	261					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				ACTCTGTTGGGCAAAAGCAGA	0.403																																					GBM(23;986 1114 21716)	uc010hqo.3																			0				NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32						c.(781-783)gCc>gAc		Homo sapiens zinc finger protein 80 (ZNF80), mRNA.							81.0	84.0	83.0					3																	113955140		2203	4300	6503	SO:0001583	missense	7634					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:113955140G>T	X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"""Zinc fingers, C2H2-type"""	13155	protein-coding gene	gene with protein product		194553	"""zinc finger protein 80 (pT17)"""			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.782C>A	3.37:g.113955140G>T	ENSP00000417192:p.Ala261Asp					ZNF80_uc003ebf.3_Non-coding_Transcript	p.A261D	NM_007136	NP_009067	P51504	ZNF80_HUMAN			0	1286	-		Lung NSC(201;0.0233)|all_neural(597;0.0837)	261					Q6NSW4|Q6NT14	Missense_Mutation	SNP	ENST00000482457.2	37	c.782C>A	CCDS2979.1	.	.	.	.	.	.	.	.	.	.	G	9.182	1.023778	0.19433	.	.	ENSG00000174255	ENST00000482457	T	0.06142	3.34	2.94	-2.43	0.06522	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05135	0.0137	L	0.43701	1.375	0.09310	N	1	B	0.27732	0.187	B	0.20184	0.028	T	0.36212	-0.9757	9	0.66056	D	0.02	.	4.5062	0.11889	0.2661:0.3733:0.3606:0.0	.	261	P51504	ZNF80_HUMAN	D	261	ENSP00000417192:A261D	ENSP00000309812:A261D	A	-	2	0	ZNF80	115437830	0.000000	0.05858	0.004000	0.12327	0.157000	0.22087	-1.107000	0.03316	-0.423000	0.07394	-0.459000	0.05422	GCC		0.403	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	NM_007136		5	92	0	0	0	1	0	5	92				
FBF1	85302	broad.mit.edu	37	17	73908312	73908312	+	Silent	SNP	G	G	A			TCGA-DJ-A2PQ-01A-11D-A18F-08	TCGA-DJ-A2PQ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa0bb18-d8f2-481e-bba2-0afa565b9cf0	b817f147-c91b-4189-925b-c23951bff31f	g.chr17:73908312G>A	ENST00000586717.1	-	28	3552	c.3279C>T	c.(3277-3279)ctC>ctT	p.L1093L	FBF1_ENST00000389570.4_Silent_p.L1094L|FBF1_ENST00000319129.5_Silent_p.L1093L|RP11-552F3.12_ENST00000587556.1_Silent_p.L35L|MRPL38_ENST00000409963.3_5'Flank			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	1093					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						GCCTGGCATGGAGGTGCAAGG	0.632																																						uc002jqc.3																			0				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						c.(3277-3279)ctC>ctT		Homo sapiens Fas (TNFRSF6) binding factor 1 (FBF1), mRNA.							20.0	23.0	22.0					17																	73908312		2061	4195	6256	SO:0001819	synonymous_variant	85302							g.chr17:73908312G>A	AK074045	CCDS45779.1	17q25.3	2011-04-21			ENSG00000188878	ENSG00000188878			24674	protein-coding gene	gene with protein product	"""albatross"""					11347906	Standard	NM_001080542		Approved	FLJ00103, FBF-1, KIAA1863, ALB	uc002jqc.3	Q8TES7		ENST00000586717.1:c.3279C>T	17.37:g.73908312G>A						FBF1_uc002jqa.1_Non-coding_Transcript|FBF1_uc010wsp.2_Silent_p.L1084L|MRPL38_uc002jpz.1_5'Flank|FBF1_uc002jqb.3_Non-coding_Transcript|FBF1_uc010dgr.2_Silent_p.L403L	p.L1093L	NM_001080542	NP_001074011	A6NLR5	A6NLR5_HUMAN			27	3553	-			1093					B5MEM5|Q96IF6|Q96JG4|Q96MA8	Silent	SNP	ENST00000586717.1	37	c.3279C>T																																																																																					0.632	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000448945.2	NM_001080542		7	18	0	0	0	1	0	7	18				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A2PQ-01A-11D-A18F-08	TCGA-DJ-A2PQ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa0bb18-d8f2-481e-bba2-0afa565b9cf0	b817f147-c91b-4189-925b-c23951bff31f	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		19	20	0	0	0	1	0	19	20				
TRAPPC6A	79090	broad.mit.edu	37	19	45668203	45668203	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2PQ-01A-11D-A18F-08	TCGA-DJ-A2PQ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa0bb18-d8f2-481e-bba2-0afa565b9cf0	b817f147-c91b-4189-925b-c23951bff31f	g.chr19:45668203T>C	ENST00000585934.1	-	3	196	c.178A>G	c.(178-180)Agg>Ggg	p.R60G	TRAPPC6A_ENST00000592647.1_Missense_Mutation_p.Q51R|TRAPPC6A_ENST00000006275.4_Missense_Mutation_p.R74G|TRAPPC6A_ENST00000588062.1_Missense_Mutation_p.Q37R	NM_001270891.1	NP_001257820.1	O75865	TPC6A_HUMAN	trafficking protein particle complex 6A	60					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	8		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233)		AGCTCCTCCCTGAAGGCCAGC	0.637																																						uc002pav.3																			0		p.R74M(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	8						c.(220-222)Agg>Ggg		Homo sapiens trafficking protein particle complex 6A (TRAPPC6A), mRNA.							78.0	78.0	78.0					19																	45668203		2203	4300	6503	SO:0001583	missense	79090				vesicle-mediated transport	Golgi apparatus|endoplasmic reticulum	guanylate cyclase activity|heme binding	g.chr19:45668203T>C	AF161407	CCDS12655.1, CCDS59395.1, CCDS59396.1, CCDS59397.1	19q13.32	2012-10-02				ENSG00000007255		"""Trafficking protein particle complex"""	23069	protein-coding gene	gene with protein product		610396					Standard	NM_024108		Approved	TRS33, MGC2650, HSPC289	uc002pav.4	O75865		ENST00000585934.1:c.178A>G	19.37:g.45668203T>C	ENSP00000468612:p.Arg60Gly					TRAPPC6A_uc002paw.3_Missense_Mutation_p.R60G	p.R74G	NM_024108	NP_077013	O75865	TPC6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233)	2	229	-		all_neural(266;0.224)|Ovarian(192;0.231)	60					K7ERB1|K7ERQ4|Q9BQ45|Q9P092	Missense_Mutation	SNP	ENST00000585934.1	37	c.220A>G	CCDS59397.1	.	.	.	.	.	.	.	.	.	.	t	18.99	3.739103	0.69304	.	.	ENSG00000007255	ENST00000006275	T	0.42900	0.96	4.51	3.41	0.39046	NO signalling/Golgi transport  ligand-binding domain (1);	0.062767	0.64402	D	0.000011	T	0.33411	0.0862	L	0.41632	1.29	0.22266	N	0.999246	P;P	0.45569	0.752;0.861	P;B	0.44647	0.456;0.417	T	0.09662	-1.0664	10	0.27785	T	0.31	-16.4824	7.4296	0.27120	0.0:0.0:0.2217:0.7783	.	60;74	O75865;O75865-2	TPC6A_HUMAN;.	G	74	ENSP00000006275:R74G	ENSP00000006275:R74G	R	-	1	2	TRAPPC6A	50360043	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	2.013000	0.40942	1.671000	0.50874	0.460000	0.39030	AGG		0.637	TRAPPC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457556.1	NM_024108		3	80	0	0	0	1	0	3	80				
SNX17	9784	broad.mit.edu	37	2	27599354	27599354	+	Silent	SNP	T	T	C			TCGA-DJ-A2PQ-01A-11D-A18F-08	TCGA-DJ-A2PQ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa0bb18-d8f2-481e-bba2-0afa565b9cf0	b817f147-c91b-4189-925b-c23951bff31f	g.chr2:27599354T>C	ENST00000233575.2	+	14	1488	c.1266T>C	c.(1264-1266)ccT>ccC	p.P422P	ZNF513_ENST00000491924.1_5'Flank|SNX17_ENST00000542478.1_Silent_p.P208P|SNX17_ENST00000537606.1_Silent_p.P397P|SNX17_ENST00000543024.1_Silent_p.P208P	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	422	FERM-like.|PTB-like F3 module.				cholesterol catabolic process (GO:0006707)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|receptor-mediated endocytosis (GO:0006898)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)	low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol binding (GO:0035091)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGAGTCACCTGATGCCACCC	0.552																																						uc002rkg.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14						c.(1264-1266)ccT>ccC		Homo sapiens sorting nexin 17 (SNX17), mRNA.							162.0	151.0	155.0					2																	27599354		2203	4300	6503	SO:0001819	synonymous_variant	9784				cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	Golgi apparatus|cytoplasmic vesicle membrane|cytosol|early endosome	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding	g.chr2:27599354T>C	D31764	CCDS1750.1, CCDS58704.1	2p23-p22	2008-05-21			ENSG00000115234	ENSG00000115234		"""Sorting nexins"""	14979	protein-coding gene	gene with protein product		605963				12169628, 15769472	Standard	NM_014748		Approved	KIAA0064	uc002rkg.2	Q15036	OTTHUMG00000097781	ENST00000233575.2:c.1266T>C	2.37:g.27599354T>C						SNX17_uc010ylj.1_Silent_p.P402P|SNX17_uc002rki.1_Non-coding_Transcript|SNX17_uc002rkh.1_Silent_p.P208P|SNX17_uc010yll.1_Silent_p.P208P|SNX17_uc010ylm.1_Silent_p.P208P|SNX17_uc010yln.1_Silent_p.P410P|SNX17_uc010ylo.1_Silent_p.P340P|SNX17_uc010ylp.1_Silent_p.P397P|SNX17_uc010ylk.1_Silent_p.P208P|SNX17_uc010eza.1_Silent_p.P208P|SNX17_uc010ylq.1_Silent_p.P208P	p.P422P	NM_014748	NP_055563	Q15036	SNX17_HUMAN			13	1488	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		422					B4DQM7|Q53HN7|Q6IAS3	Silent	SNP	ENST00000233575.2	37	c.1266T>C	CCDS1750.1																																																																																				0.552	SNX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215024.1	NM_014748		3	100	0	0	0	1	0	3	100				
OR7C2	26658	broad.mit.edu	37	19	15052786	15052786	+	Silent	SNP	C	C	A			TCGA-DJ-A2PQ-01A-11D-A18F-08	TCGA-DJ-A2PQ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa0bb18-d8f2-481e-bba2-0afa565b9cf0	b817f147-c91b-4189-925b-c23951bff31f	g.chr19:15052786C>A	ENST00000248072.3	+	1	486	c.486C>A	c.(484-486)acC>acA	p.T162T		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					AGACCTTGACCATTTTGAGGC	0.507																																						uc010xoc.2																			0				large_intestine(3)|lung(8)|ovary(2)|skin(2)	15						c.(484-486)acC>acA		Homo sapiens olfactory receptor, family 7, subfamily C, member 2 (OR7C2), mRNA.							222.0	218.0	220.0					19																	15052786		2203	4300	6503	SO:0001819	synonymous_variant	26658				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15052786C>A	U86255	CCDS12320.1	19p13.1	2012-08-09				ENSG00000127529		"""GPCR / Class A : Olfactory receptors"""	8374	protein-coding gene	gene with protein product				OR7C3			Standard	NM_012377		Approved	OR19-18	uc010xoc.2	O60412		ENST00000248072.3:c.486C>A	19.37:g.15052786C>A							p.T162T	NM_012377	NP_036509	O60412	OR7C2_HUMAN			0	486	+	Ovarian(108;0.203)		162					O43881|Q6IFP9	Silent	SNP	ENST00000248072.3	37	c.486C>A	CCDS12320.1																																																																																				0.507	OR7C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466281.1			85	130	0	0	0	1	0	85	130				
MATR3	9782	broad.mit.edu	37	5	138643991	138643991	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A2PQ-01A-11D-A18F-08	TCGA-DJ-A2PQ-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9fa0bb18-d8f2-481e-bba2-0afa565b9cf0	b817f147-c91b-4189-925b-c23951bff31f	g.chr5:138643991G>T	ENST00000394805.3	+	2	1222	c.887G>T	c.(886-888)tGt>tTt	p.C296F	MATR3_ENST00000509990.1_Missense_Mutation_p.C296F|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000361059.2_Missense_Mutation_p.C296F|MATR3_ENST00000502929.1_Missense_Mutation_p.C296F|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000394800.2_Missense_Mutation_p.C296F|MATR3_ENST00000510056.1_Missense_Mutation_p.C296F	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	296					cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGCTCTATATGTGATTTGCCA	0.378																																						uc003ldw.3																			0				breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(886-888)tGt>tTt		Homo sapiens matrin 3 (MATR3), transcript variant 2, mRNA.							119.0	120.0	120.0					5																	138643991		2203	4300	6503	SO:0001583	missense	9782					nuclear inner membrane|nuclear matrix	RNA binding|nucleotide binding|protein binding|structural molecule activity|zinc ion binding	g.chr5:138643991G>T	M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"""myopathy, distal 2"""	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.887G>T	5.37:g.138643991G>T	ENSP00000378284:p.Cys296Phe					MATR3_uc003lds.3_Missense_Mutation_p.C296F|MATR3_uc003ldt.3_Intron|MATR3_uc003ldu.3_Missense_Mutation_p.C296F|MATR3_uc010jfb.3_Missense_Mutation_p.C296F|MATR3_uc003ldx.3_Missense_Mutation_p.C296F|MATR3_uc003ldy.3_Intron|MATR3_uc003ldz.3_Missense_Mutation_p.C296F|MATR3_uc011czb.2_Intron	p.C296F	NM_018834	NP_954659	P43243	MATR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		2	1290	+			296					B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Missense_Mutation	SNP	ENST00000394805.3	37	c.887G>T	CCDS4210.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.00|16.00	2.998560|2.998560	0.54147|0.54147	.|.	.|.	ENSG00000015479|ENSG00000015479	ENST00000509990;ENST00000361059;ENST00000502929;ENST00000394800;ENST00000394805;ENST00000504045;ENST00000510056|ENST00000515833	D;D;D;D;D;D;D|.	0.98947|.	-5.26;-5.26;-5.26;-5.26;-5.26;-5.26;-5.26|.	5.4|5.4	5.4|5.4	0.78164|0.78164	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60327|0.60327	0.2260|0.2260	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	D;P;D|.	0.65815|.	0.995;0.86;0.995|.	D;P;D|.	0.72982|.	0.979;0.774;0.979|.	T|T	0.53669|0.53669	-0.8406|-0.8406	10|5	0.87932|.	D|.	0|.	-10.153|-10.153	19.5239|19.5239	0.95196|0.95196	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	296;296;296|.	D6REM6;A8MXP9;P43243|.	.;.;MATR3_HUMAN|.	F|L	296|70	ENSP00000423533:C296F;ENSP00000354346:C296F;ENSP00000422319:C296F;ENSP00000378279:C296F;ENSP00000378284:C296F;ENSP00000423290:C296F;ENSP00000426743:C296F|.	ENSP00000354346:C296F|.	C|V	+|+	2|1	0|0	MATR3|MATR3	138671890|138671890	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.602000|8.602000	0.90868|0.90868	2.689000|2.689000	0.91719|0.91719	0.561000|0.561000	0.74099|0.74099	TGT|GTG		0.378	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2	NM_018834		4	106	0	0	0	1	0	4	106				
