#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_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_Algorithm	i_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_Site_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	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_NTotCov	i_NVarCov	i_ORegAnno_bin	i_TTotCov	i_TVarCov	i_Transcript_Id	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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_dbSNPPopFreq	i_dbSNP_AF	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
TENM3	55714	hgsc.bcm.edu	37	4	183694627	183694627	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A3A6-01A-11D-A22F-10	TCGA-DD-A3A6-11A-11D-A22F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f03cb4b-60b1-460c-b761-402e7ca09b0d	a63e3270-347f-4de0-b8f5-494e9b555a9d	g.chr4:183694627A>G	ENST00000511685.1	+	23	5018	c.4895A>G	c.(4894-4896)tAt>tGt	p.Y1632C	RP11-18D7.2_ENST00000513255.1_RNA|TENM3_ENST00000406950.2_Missense_Mutation_p.Y1632C			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1632					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GTATTTAGCTATGACAGTGAA	0.393																																					p.Y1632C		Atlas-SNP	.											.	.	.	.	0			c.A4895G						.						131.0	120.0	123.0					4																	183694627		1928	4141	6069	SO:0001583	missense	55714	exon22			TTAGCTATGACAG	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.4895A>G	chr4.hg19:g.183694627A>G	ENSP00000424226:p.Tyr1632Cys	278.0	0.0		195.0	22.0	NM_001080477	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	hg19	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	A	19.75	3.886486	0.72410	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	T;T	0.16897	2.31;2.31	5.26	5.26	0.73747	.	.	.	.	.	T	0.48537	0.1505	M	0.88906	2.99	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.58476	-0.7630	9	0.87932	D	0	.	15.3531	0.74405	1.0:0.0:0.0:0.0	.	1632	Q9P273	TEN3_HUMAN	C	1632	ENSP00000424226:Y1632C;ENSP00000385276:Y1632C	ENSP00000385276:Y1632C	Y	+	2	0	ODZ3	183931621	1.000000	0.71417	0.999000	0.59377	0.896000	0.52359	8.761000	0.91691	2.207000	0.71202	0.533000	0.62120	TAT	.	.		0.393	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1		
ADAMTS16	170690	hgsc.bcm.edu	37	5	5209306	5209306	+	Missense_Mutation	SNP	T	T	A	rs547851789		TCGA-DD-A3A6-01A-11D-A22F-10	TCGA-DD-A3A6-11A-11D-A22F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f03cb4b-60b1-460c-b761-402e7ca09b0d	a63e3270-347f-4de0-b8f5-494e9b555a9d	g.chr5:5209306T>A	ENST00000274181.7	+	10	1690	c.1552T>A	c.(1552-1554)Tgc>Agc	p.C518S	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.C518S	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	518	Disintegrin.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AAACACACAGTGCAAGTGGCA	0.443																																					p.C518S		Atlas-SNP	.											.	ADAMTS16	543	.	0			c.T1552A						.						139.0	133.0	135.0					5																	5209306		1937	4152	6089	SO:0001583	missense	170690	exon10			ACACAGTGCAAGT	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1552T>A	chr5.hg19:g.5209306T>A	ENSP00000274181:p.Cys518Ser	185.0	0.0		120.0	7.0	NM_139056	C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	hg19	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.737295	0.89482	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	D;D	0.82619	-1.63;-1.63	5.9	5.9	0.94986	Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93916	0.8053	H	0.96301	3.8	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.81914	0.994;0.995;0.971	D	0.95594	0.8657	10	0.87932	D	0	.	15.3148	0.74065	0.0:0.0:0.0:1.0	.	518;518;518	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	S	518	ENSP00000274181:C518S;ENSP00000421631:C518S	ENSP00000274181:C518S	C	+	1	0	ADAMTS16	5262306	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.048000	0.76606	2.251000	0.74343	0.528000	0.53228	TGC	.	.		0.443	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056	
FAM184A	79632	hgsc.bcm.edu	37	6	119327610	119327610	+	Splice_Site	SNP	A	A	G			TCGA-DD-A3A6-01A-11D-A22F-10	TCGA-DD-A3A6-11A-11D-A22F-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f03cb4b-60b1-460c-b761-402e7ca09b0d	a63e3270-347f-4de0-b8f5-494e9b555a9d	g.chr6:119327610A>G	ENST00000338891.7	-	7	2259		c.e7+1		RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000522284.1_Splice_Site|FAM184A_ENST00000368475.4_Splice_Site|FAM184A_ENST00000352896.5_Splice_Site|FAM184A_ENST00000521531.1_Splice_Site	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A							extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TTATGAAATTACCTCCACATT	0.363																																					.		Atlas-SNP	.											.	FAM184A	109	.	0			c.1455+2T>C						.						92.0	88.0	89.0					6																	119327610		1837	4080	5917	SO:0001630	splice_region_variant	79632	exon8			GAAATTACCTCCA	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.1815+1T>C	chr6.hg19:g.119327610A>G		117.0	0.0		75.0	13.0	NM_001100411	B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Splice_Site	SNP	ENST00000338891.7	hg19	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	A	12.96	2.093737	0.36952	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2421	0.82418	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM184A	119369309	1.000000	0.71417	0.997000	0.53966	0.124000	0.20399	6.603000	0.74145	2.234000	0.73211	0.533000	0.62120	.	.	.		0.363	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581	Intron
C6orf118	168090	hgsc.bcm.edu	37	6	165715587	165715587	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A3A6-01A-11D-A22F-10	TCGA-DD-A3A6-11A-11D-A22F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f03cb4b-60b1-460c-b761-402e7ca09b0d	a63e3270-347f-4de0-b8f5-494e9b555a9d	g.chr6:165715587G>A	ENST00000230301.8	-	2	244	c.224C>T	c.(223-225)aCg>aTg	p.T75M	C6orf118_ENST00000543069.1_De_novo_Start_InFrame	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	75										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CTGTAAGATCGTCTCCGGAGG	0.612																																					p.T75M		Atlas-SNP	.											.	C6orf118	116	.	0			c.C224T						.						96.0	107.0	103.0					6																	165715587		2203	4300	6503	SO:0001583	missense	168090	exon2			AAGATCGTCTCCG		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.224C>T	chr6.hg19:g.165715587G>A	ENSP00000230301:p.Thr75Met	119.0	0.0		86.0	7.0	NM_144980	Q8TC11	Missense_Mutation	SNP	ENST00000230301.8	hg19	CCDS5288.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.584057	0.46110	.	.	ENSG00000112539	ENST00000230301	T	0.12361	2.69	5.31	-1.32	0.09201	.	0.763645	0.11964	N	0.512482	T	0.03520	0.0101	L	0.61218	1.895	0.09310	N	1	B	0.24675	0.109	B	0.18263	0.021	T	0.40079	-0.9582	10	0.49607	T	0.09	-12.8169	0.4604	0.00515	0.2248:0.2465:0.2763:0.2524	.	75	Q5T5N4	CF118_HUMAN	M	75	ENSP00000230301:T75M	ENSP00000230301:T75M	T	-	2	0	C6orf118	165635577	0.000000	0.05858	0.010000	0.14722	0.006000	0.05464	-1.112000	0.03299	-0.278000	0.09180	-0.753000	0.03488	ACG	.	.		0.612	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980	
STRIP2	57464	hgsc.bcm.edu	37	7	129110535	129110535	+	Silent	SNP	G	G	C	rs139413732	byFrequency	TCGA-DD-A3A6-01A-11D-A22F-10	TCGA-DD-A3A6-11A-11D-A22F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f03cb4b-60b1-460c-b761-402e7ca09b0d	a63e3270-347f-4de0-b8f5-494e9b555a9d	g.chr7:129110535G>C	ENST00000249344.2	+	18	1963	c.1923G>C	c.(1921-1923)ccG>ccC	p.P641P	STRIP2_ENST00000435494.2_Silent_p.P641P	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	641					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)											AGGATTTGCCGGAGCTTACTA	0.448																																					p.P641P		Atlas-SNP	.											.	.	.	.	0			c.G1923C						.						148.0	125.0	133.0					7																	129110535		2203	4300	6503	SO:0001819	synonymous_variant	57464	exon18			TTTGCCGGAGCTT	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog B (yeast)"""		"""family with sequence similarity 40, member B"""	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.1923G>C	chr7.hg19:g.129110535G>C		140.0	0.0		100.0	18.0	NM_020704	Q8WUZ4	Silent	SNP	ENST00000249344.2	hg19	CCDS34752.1																																																																																			.	G|0.999;A|0.001		0.448	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336	
CPEB3	22849	hgsc.bcm.edu	37	10	93902837	93902837	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A3A6-01A-11D-A22F-10	TCGA-DD-A3A6-11A-11D-A22F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f03cb4b-60b1-460c-b761-402e7ca09b0d	a63e3270-347f-4de0-b8f5-494e9b555a9d	g.chr10:93902837C>T	ENST00000265997.4	-	6	1574	c.1402G>A	c.(1402-1404)Gta>Ata	p.V468I	CPEB3_ENST00000412050.4_Missense_Mutation_p.V454I	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	468	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA destabilization (GO:0061158)|cellular response to amino acid stimulus (GO:0071230)|long-term memory (GO:0007616)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation (GO:0017148)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of mRNA polyadenylation (GO:1900365)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|regulation of dendritic spine development (GO:0060998)|regulation of synaptic plasticity (GO:0048167)|translation (GO:0006412)	apical dendrite (GO:0097440)|CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuron projection (GO:0043005)|nucleus (GO:0005634)|synapse (GO:0045202)	mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|translation factor activity, nucleic acid binding (GO:0008135)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				CAGTCTACTACGAGAGGTCCA	0.393																																					p.V468I		Atlas-SNP	.											.	CPEB3	43	.	0			c.G1402A						.						89.0	88.0	88.0					10																	93902837		2203	4300	6503	SO:0001583	missense	22849	exon6			CTACTACGAGAGG	AB023157	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			ENSG00000107864	ENSG00000107864		"""RNA binding motif (RRM) containing"""	21746	protein-coding gene	gene with protein product		610606				10231032, 12672660	Standard	NM_014912		Approved	KIAA0940	uc001khw.2	Q8NE35	OTTHUMG00000018756	ENST00000265997.4:c.1402G>A	chr10.hg19:g.93902837C>T	ENSP00000265997:p.Val468Ile	66.0	0.0		44.0	5.0	NM_014912	Q5T389|Q9NQJ7|Q9Y2E9	Missense_Mutation	SNP	ENST00000265997.4	hg19	CCDS31246.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.181730	0.57800	.	.	ENSG00000107864	ENST00000394210;ENST00000412050;ENST00000265997	T;T	0.15718	2.4;2.4	5.86	5.86	0.93980	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.32133	0.0819	L	0.37897	1.145	0.80722	D	1	B;P;D	0.53885	0.026;0.927;0.963	B;D;D	0.66196	0.017;0.942;0.933	T	0.00804	-1.1559	10	0.19147	T	0.46	-12.1909	20.1823	0.98208	0.0:1.0:0.0:0.0	.	468;454;454	Q8NE35;Q5QP71;Q8NE35-2	CPEB3_HUMAN;.;.	I	454;454;468	ENSP00000398310:V454I;ENSP00000265997:V468I	ENSP00000265997:V468I	V	-	1	0	CPEB3	93892817	1.000000	0.71417	0.870000	0.34147	0.948000	0.59901	5.975000	0.70475	2.771000	0.95319	0.650000	0.86243	GTA	.	.		0.393	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049387.2	NM_014912	
ABLIM1	3983	hgsc.bcm.edu	37	10	116417799	116417799	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A3A6-01A-11D-A22F-10	TCGA-DD-A3A6-11A-11D-A22F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f03cb4b-60b1-460c-b761-402e7ca09b0d	a63e3270-347f-4de0-b8f5-494e9b555a9d	g.chr10:116417799C>T	ENST00000277895.5	-	1	258	c.161G>A	c.(160-162)cGt>cAt	p.R54H	ABLIM1_ENST00000533213.2_Intron|snoU13_ENST00000458910.1_RNA|ABLIM1_ENST00000369252.4_Intron	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	54					axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GATAGTGGCACGCCTATGAGC	0.517																																					p.R54H		Atlas-SNP	.											.	ABLIM1	131	.	0			c.G161A						.						99.0	90.0	93.0					10																	116417799		2203	4300	6503	SO:0001583	missense	3983	exon1			GTGGCACGCCTAT	AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.161G>A	chr10.hg19:g.116417799C>T	ENSP00000277895:p.Arg54His	122.0	0.0		92.0	10.0	NM_002313	A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	ENST00000277895.5	hg19	CCDS7590.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.896022	0.33442	.	.	ENSG00000099204	ENST00000336585;ENST00000369262;ENST00000277895	T	0.28255	1.62	5.77	2.93	0.34026	.	1.263470	0.05929	N	0.634786	T	0.20820	0.0501	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.28396	-1.0045	10	0.56958	D	0.05	.	7.7976	0.29156	0.0:0.6266:0.0:0.3734	.	54	O14639	ABLM1_HUMAN	H	54	ENSP00000277895:R54H	ENSP00000277895:R54H	R	-	2	0	ABLIM1	116407789	0.001000	0.12720	0.028000	0.17463	0.107000	0.19398	0.114000	0.15520	0.372000	0.24591	-0.143000	0.13931	CGT	.	.		0.517	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3		
SERGEF	26297	hgsc.bcm.edu	37	11	18010209	18010209	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-A3A6-01A-11D-A22F-10	TCGA-DD-A3A6-11A-11D-A22F-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f03cb4b-60b1-460c-b761-402e7ca09b0d	a63e3270-347f-4de0-b8f5-494e9b555a9d	g.chr11:18010209T>G	ENST00000265965.5	-	8	930	c.779A>C	c.(778-780)cAt>cCt	p.H260P	SERGEF_ENST00000532265.1_Missense_Mutation_p.H146P|SERGEF_ENST00000528200.1_Missense_Mutation_p.H260P	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN	secretion regulating guanine nucleotide exchange factor	260					negative regulation of protein secretion (GO:0050709)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						CTGGAAACAATGTGCTTCTAT	0.483																																					p.H260P		Atlas-SNP	.											.	SERGEF	38	.	0			c.A779C						.						154.0	136.0	142.0					11																	18010209		2200	4293	6493	SO:0001583	missense	26297	exon8			AAACAATGTGCTT	AJ243950	CCDS7828.1	11p14.3	2006-03-09			ENSG00000129158	ENSG00000129158			17499	protein-coding gene	gene with protein product		606051				10571079, 12459492	Standard	NM_012139		Approved	DelGEF, Gnefr	uc001mnm.3	Q9UGK8	OTTHUMG00000166420	ENST00000265965.5:c.779A>C	chr11.hg19:g.18010209T>G	ENSP00000265965:p.His260Pro	120.0	0.0		70.0	9.0	NM_012139	Q9UGK9	Missense_Mutation	SNP	ENST00000265965.5	hg19	CCDS7828.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.543|9.543	1.113965|1.113965	0.20795|0.20795	.|.	.|.	ENSG00000129158|ENSG00000129158	ENST00000265965;ENST00000528200;ENST00000532265;ENST00000529728;ENST00000530613|ENST00000529151	T;T;T;T;T|.	0.79454|.	-1.27;-1.27;-1.27;-1.27;-1.27|.	5.63|5.63	-5.82|-5.82	0.02333|0.02333	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);|.	0.695780|.	0.15383|.	N|.	0.265232|.	T|T	0.45696|0.45696	0.1355|0.1355	L|L	0.59436|0.59436	1.845|1.845	0.09310|0.09310	N|N	1|1	B;P;B;B|.	0.41748|.	0.001;0.761;0.001;0.011|.	B;B;B;B|.	0.38562|.	0.001;0.276;0.002;0.002|.	T|T	0.52823|0.52823	-0.8524|-0.8524	10|5	0.30854|.	T|.	0.27|.	0.6702|0.6702	10.0267|10.0267	0.42076|0.42076	0.0:0.4495:0.1007:0.4499|0.0:0.4495:0.1007:0.4499	.|.	146;146;260;260|.	B4DFC0;E9PMV6;Q9UGK8-2;Q9UGK8|.	.;.;.;SRGEF_HUMAN|.	P|L	260;260;146;146;146|124	ENSP00000265965:H260P;ENSP00000434188:H260P;ENSP00000431314:H146P;ENSP00000437297:H146P;ENSP00000436080:H146P|.	ENSP00000265965:H260P|.	H|I	-|-	2|1	0|0	SERGEF|SERGEF	17966785|17966785	0.000000|0.000000	0.05858|0.05858	0.006000|0.006000	0.13384|0.13384	0.820000|0.820000	0.46376|0.46376	-0.306000|-0.306000	0.08178|0.08178	-0.690000|-0.690000	0.05142|0.05142	-0.353000|-0.353000	0.07706|0.07706	CAT|ATT	.	.		0.483	SERGEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389538.1	NM_012139	
DPF2	5977	hgsc.bcm.edu	37	11	65111286	65111286	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A3A6-01A-11D-A22F-10	TCGA-DD-A3A6-11A-11D-A22F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f03cb4b-60b1-460c-b761-402e7ca09b0d	a63e3270-347f-4de0-b8f5-494e9b555a9d	g.chr11:65111286G>A	ENST00000528416.1	+	5	669	c.536G>A	c.(535-537)cGt>cAt	p.R179H	DPF2_ENST00000532264.1_3'UTR|DPF2_ENST00000415073.2_Intron|DPF2_ENST00000252268.4_Missense_Mutation_p.R179H	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	179					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						ACTCCCAAGCGTCGGGGAAAG	0.512																																					p.R179H		Atlas-SNP	.											.	DPF2	54	.	0			c.G536A						.						43.0	40.0	41.0					11																	65111286		2201	4297	6498	SO:0001583	missense	5977	exon5			CCAAGCGTCGGGG	U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"""Zinc fingers, PHD-type"""	9964	protein-coding gene	gene with protein product		601671	"""requiem, apoptosis response zinc finger gene"""	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.536G>A	chr11.hg19:g.65111286G>A	ENSP00000436901:p.Arg179His	124.0	0.0		90.0	4.0	NM_006268	A8K7C9|B4DT58	Missense_Mutation	SNP	ENST00000528416.1	hg19	CCDS8100.1	.	.	.	.	.	.	.	.	.	.	G	35	5.458962	0.96240	.	.	ENSG00000133884	ENST00000528416;ENST00000252268	D;D	0.91464	-2.84;-2.85	5.71	5.71	0.89125	.	0.000000	0.37715	N	0.001967	D	0.91523	0.7323	M	0.82323	2.585	0.54753	D	0.999987	P	0.47604	0.898	B	0.40782	0.34	D	0.92889	0.6329	10	0.72032	D	0.01	-16.6516	17.3563	0.87336	0.0:0.0:1.0:0.0	.	179	Q92785	REQU_HUMAN	H	179	ENSP00000436901:R179H;ENSP00000252268:R179H	ENSP00000252268:R179H	R	+	2	0	DPF2	64867862	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	7.759000	0.85235	2.689000	0.91719	0.655000	0.94253	CGT	.	.		0.512	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387293.3	NM_006268	
PARP16	54956	hgsc.bcm.edu	37	15	65563339	65563339	+	Silent	SNP	G	G	A			TCGA-DD-A3A6-01A-11D-A22F-10	TCGA-DD-A3A6-11A-11D-A22F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f03cb4b-60b1-460c-b761-402e7ca09b0d	a63e3270-347f-4de0-b8f5-494e9b555a9d	g.chr15:65563339G>A	ENST00000261888.6	-	2	691	c.246C>T	c.(244-246)gcC>gcT	p.A82A	PARP16_ENST00000558873.1_5'UTR|PARP16_ENST00000444347.2_Intron	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	82	PARP alpha-helical.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell death (GO:0060548)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum tubular network (GO:0071782)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	kinase binding (GO:0019900)|NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|protein serine/threonine kinase activator activity (GO:0043539)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						CCAGGTCCCAGGCCCGTTTGT	0.507																																					p.A82A	NSCLC(50;885 1163 13509 21242 41978)	Atlas-SNP	.											.	PARP16	23	.	0			c.C246T						.						173.0	169.0	170.0					15																	65563339		2201	4299	6500	SO:0001819	synonymous_variant	54956	exon2			GTCCCAGGCCCGT	AK000516	CCDS10204.1	15q22.2	2010-02-16	2004-08-25	2004-08-25	ENSG00000138617	ENSG00000138617		"""Poly (ADP-ribose) polymerases"""	26040	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 30"""	C15orf30		15273990	Standard	NM_017851		Approved	FLJ20509, FLJ25281, pART15	uc002aoq.3	Q8N5Y8	OTTHUMG00000133138	ENST00000261888.6:c.246C>T	chr15.hg19:g.65563339G>A		110.0	0.0		93.0	8.0	NM_017851	Q6PK64|Q9NX03	Silent	SNP	ENST00000261888.6	hg19	CCDS10204.1																																																																																			.	.		0.507	PARP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256827.2	NM_017851	
C20orf96	140680	hgsc.bcm.edu	37	20	257508	257508	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A3A6-01A-11D-A22F-10	TCGA-DD-A3A6-11A-11D-A22F-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f03cb4b-60b1-460c-b761-402e7ca09b0d	a63e3270-347f-4de0-b8f5-494e9b555a9d	g.chr20:257508G>A	ENST00000360321.2	-	9	976	c.838C>T	c.(838-840)Ccc>Tcc	p.P280S	C20orf96_ENST00000382369.5_Missense_Mutation_p.P245S|C20orf96_ENST00000400269.3_Missense_Mutation_p.P222S	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	280										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			TCTTCATAGGGACGCTGGGTT	0.577																																					p.P280S		Atlas-SNP	.											.	C20orf96	28	.	0			c.C838T						.						92.0	82.0	85.0					20																	257508		2203	4300	6503	SO:0001583	missense	140680	exon9			CATAGGGACGCTG	AL034548	CCDS12994.1, CCDS74685.1	20p13	2012-10-30			ENSG00000196476	ENSG00000196476			16227	protein-coding gene	gene with protein product							Standard	NM_153269		Approved	dJ1103G7.2	uc002wde.2	Q9NUD7	OTTHUMG00000031626	ENST00000360321.2:c.838C>T	chr20.hg19:g.257508G>A	ENSP00000353470:p.Pro280Ser	110.0	0.0		72.0	10.0	NM_153269	A3KPE0|B2RPH9|Q8N840|Q8NAX5	Missense_Mutation	SNP	ENST00000360321.2	hg19	CCDS12994.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.249955	0.39797	.	.	ENSG00000196476	ENST00000382369;ENST00000360321;ENST00000400269	T;T;T	0.43294	0.95;0.95;0.95	4.52	3.57	0.40892	.	0.440036	0.22871	N	0.054623	T	0.50718	0.1632	L	0.55481	1.735	0.09310	N	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.64595	0.927;0.927;0.927;0.927	T	0.39187	-0.9626	10	0.13108	T	0.6	-13.5247	10.2593	0.43416	0.0:0.2154:0.7846:0.0	.	222;245;280;245	F5GZA9;B7Z971;Q9NUD7;Q5JYC3	.;.;CT096_HUMAN;.	S	245;280;222	ENSP00000371806:P245S;ENSP00000353470:P280S;ENSP00000383128:P222S	ENSP00000353470:P280S	P	-	1	0	C20orf96	205508	0.883000	0.30277	0.008000	0.14137	0.106000	0.19336	2.705000	0.47127	1.129000	0.42072	0.313000	0.20887	CCC	.	.		0.577	C20orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077439.2	NM_153269	
RGN	9104	hgsc.bcm.edu	37	X	46951499	46951499	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A3A6-01A-11D-A22F-10	TCGA-DD-A3A6-11A-11D-A22F-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f03cb4b-60b1-460c-b761-402e7ca09b0d	a63e3270-347f-4de0-b8f5-494e9b555a9d	g.chrX:46951499C>A	ENST00000352078.4	+	6	1079	c.734C>A	c.(733-735)aCa>aAa	p.T245K	RGN_ENST00000397180.1_Missense_Mutation_p.T245K|RGN_ENST00000457380.1_Missense_Mutation_p.T173K|RGN_ENST00000336169.3_Missense_Mutation_p.T245K	NM_004683.4	NP_004674.1	Q15493	RGN_HUMAN	regucalcin	245					cellular calcium ion homeostasis (GO:0006874)|L-ascorbic acid biosynthetic process (GO:0019853)|positive regulation of ATPase activity (GO:0032781)|regulation of calcium-mediated signaling (GO:0050848)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|enzyme regulator activity (GO:0030234)|gluconolactonase activity (GO:0004341)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						GTTGATAAAACAACTTCATGC	0.423																																					p.T245K		Atlas-SNP	.											.	RGN	18	.	0			c.C734A						.						75.0	69.0	71.0					X																	46951499		2203	4300	6503	SO:0001583	missense	9104	exon6			ATAAAACAACTTC	D31815	CCDS14272.1, CCDS75968.1	Xp11.3	2014-03-14	2013-04-26		ENSG00000130988	ENSG00000130988	3.1.1.17		9989	protein-coding gene	gene with protein product	"""senescence marker protein-30"", ""gluconolactonase"""	300212	"""regucalcin (senescence marker protein-30)"""			7548213	Standard	NM_152869		Approved	SMP30, RC	uc004dha.1	Q15493	OTTHUMG00000021435	ENST00000352078.4:c.734C>A	chrX.hg19:g.46951499C>A	ENSP00000253303:p.Thr245Lys	99.0	0.0		72.0	11.0	NM_004683	A4FTW1|A8K271|Q53FC9|Q5JRR5	Missense_Mutation	SNP	ENST00000352078.4	hg19	CCDS14272.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998807	0.74818	.	.	ENSG00000130988	ENST00000397180;ENST00000457380;ENST00000352078;ENST00000336169	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.56	4.69	0.59074	SMP-30/Gluconolaconase/LRE-like region (1);Six-bladed beta-propeller, TolB-like (1);	0.255560	0.44688	D	0.000430	T	0.55784	0.1942	M	0.81112	2.525	0.44807	D	0.997812	D;D	0.89917	1.0;1.0	D;D	0.79784	0.981;0.993	T	0.59043	-0.7528	10	0.51188	T	0.08	-6.6494	13.0624	0.59014	0.0:0.9212:0.0:0.0788	.	173;245	Q15493-2;Q15493	.;RGN_HUMAN	K	245;173;245;245	ENSP00000380365:T245K;ENSP00000406568:T173K;ENSP00000253303:T245K;ENSP00000338400:T245K	ENSP00000338400:T245K	T	+	2	0	RGN	46836443	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	1.650000	0.37292	2.353000	0.79882	0.519000	0.50382	ACA	.	.		0.423	RGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056385.1	NM_004683	
FUT8	2530	hgsc.bcm.edu	37	14	66188664	66188665	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DD-A3A6-01A-11D-A22F-10	TCGA-DD-A3A6-11A-11D-A22F-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f03cb4b-60b1-460c-b761-402e7ca09b0d	a63e3270-347f-4de0-b8f5-494e9b555a9d	g.chr14:66188664_66188665insA	ENST00000360689.5	+	8	2734_2735	c.1007_1008insA	c.(1006-1011)atccgcfs	p.R337fs	FUT8_ENST00000394586.2_Frame_Shift_Ins_p.R337fs|FUT8_ENST00000358307.2_Frame_Shift_Ins_p.R208fs|FUT8_ENST00000417683.1_Intron|FUT8_ENST00000557164.1_Frame_Shift_Ins_p.R174fs|FUT8_ENST00000394585.1_Frame_Shift_Ins_p.R337fs	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	337	GT23. {ECO:0000255|PROSITE- ProRule:PRU00992}.				cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		AAATACTTGATCCGCCCACAGC	0.455																																					p.I336fs		Atlas-INDEL	.											.	FUT8	101	.	0			c.1007_1008insA						.																																			SO:0001589	frameshift_variant	2530	exon8			.	AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"""Fucosyltransferases"""	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	Exception_encountered	chr14.hg19:g.66188664_66188665insA	ENSP00000353910:p.Arg337fs	129.0	0.0		97.0	11.0	NM_178155	B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Frame_Shift_Ins	INS	ENST00000360689.5	hg19	CCDS9775.1																																																																																			.	.		0.455	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286406.1	NM_004480	
NF2	4771	hgsc.bcm.edu	37	22	30038257	30038258	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DD-A3A6-01A-11D-A22F-10	TCGA-DD-A3A6-11A-11D-A22F-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	7f03cb4b-60b1-460c-b761-402e7ca09b0d	a63e3270-347f-4de0-b8f5-494e9b555a9d	g.chr22:30038257_30038258insA	ENST00000338641.4	+	4	871_872	c.430_431insA	c.(430-432)tacfs	p.Y144fs	NF2_ENST00000334961.7_Frame_Shift_Ins_p.Y61fs|NF2_ENST00000347330.5_Frame_Shift_Ins_p.Y61fs|NF2_ENST00000361452.4_Frame_Shift_Ins_p.Y103fs|NF2_ENST00000361166.4_Frame_Shift_Ins_p.Y144fs|NF2_ENST00000413209.2_Frame_Shift_Ins_p.Y144fs|NF2_ENST00000353887.4_Frame_Shift_Ins_p.Y61fs|NF2_ENST00000397789.3_Frame_Shift_Ins_p.Y144fs|NF2_ENST00000403999.3_Frame_Shift_Ins_p.Y144fs|NF2_ENST00000403435.1_Frame_Shift_Ins_p.Y144fs|NF2_ENST00000361676.4_Frame_Shift_Ins_p.Y102fs	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	144	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.Y144fs*1(5)|p.V122_K149del(5)|p.?(2)|p.Y144fs*5(1)|p.Y144fs*29(1)|p.K123fs*2(1)|p.A142fs*8(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						CCTGGCTTCTTACGCCGTCCAG	0.45			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2																												p.Y144_A145delinsX		Atlas-INDEL	.	yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	NF2_ENST00000403999,rectum,carcinoma,-2,8	NF2	1312	.	16	Deletion - In frame(5)|Insertion - Frameshift(5)|Deletion - Frameshift(4)|Unknown(2)	soft_tissue(8)|meninges(6)|large_intestine(1)|stomach(1)	c.430_431insA	GRCh37	CI045510|CI983522	NF2	I		.																																			SO:0001589	frameshift_variant	4771	exon4	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	.	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"""A-kinase anchor proteins"""	7773	protein-coding gene	gene with protein product	"""moesin-ezrin-radixin like"", ""schwannomin"""	607379	"""neurofibromin 2 (bilateral acoustic neuroma)"""			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.431dupA	chr22.hg19:g.30038258_30038258dupA	ENSP00000344666:p.Tyr144fs	95.0	0.0		67.0	11.0	NM_181832	O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Frame_Shift_Ins	INS	ENST00000338641.4	hg19	CCDS13861.1																																																																																			.	.		0.450	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268	
