#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_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_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_Mutation_Status	i_NormalRefReads_WU	i_NormalVAF_WU	i_NormalVarReads_WU	i_ORegAnno_bin	i_RNARefReads_WU	i_RNAVAF_WU	i_RNAVarReads_WU	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Start_position_hg18	i_TumorRefReads_WU	i_TumorVAF_WU	i_TumorVarReads_WU	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	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_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
FAM47B	170062	genome.wustl.edu	37	X	34962508	34962508	+	Silent	SNP	C	C	T			TCGA-AB-2888-03A-01W-0732-08	TCGA-AB-2888-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	c0c5cc35-b82e-4843-abd2-59739c85097d	22b0fe6d-f07e-4e6c-b9c6-1a8d4c928685	g.chrX:34962508C>T	ENST00000329357.5	+	1	1596	c.1560C>T	c.(1558-1560)gtC>gtT	p.V520V		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	520										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TGGATGAGGTCGAATTCTTAC	0.502																																						dbGAP											0			X											102.0	92.0	96.0					X																	34962508		2202	4300	6502	34872429	SO:0001819	synonymous_variant	0			BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1560C>T	X.37:g.34962508C>T		Somatic	66	2.94	2		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	34872429	38	53.09	43	Q5JQN5|Q6PIG3	Silent	SNP	NULL	p.V520	ENST00000329357.5	37	c.1560	CCDS14236.1	X																																																																																			-	NULL		0.502	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47B	protein_coding	OTTHUMT00000056211.1	C	NM_152631		34872429	+1	no_errors	NM_152631.1	genbank	human	predicted	54_36p	silent	SNP	0.000	T
HLA-B	3106	genome.wustl.edu	37	6	31324917	31324917	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2888-03A-01W-0732-08	TCGA-AB-2888-11A-01W-0732-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	c0c5cc35-b82e-4843-abd2-59739c85097d	22b0fe6d-f07e-4e6c-b9c6-1a8d4c928685	g.chr6:31324917G>C	ENST00000412585.2	-	1	47	c.19C>G	c.(19-21)Cga>Gga	p.R7G		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	7					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						AGGACGGTTCGGGGCGCCATG	0.682									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													dbGAP											0			6											14.0	12.0	13.0					6																	31324917		2100	4078	6178	31432896	SO:0001583	missense	0	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.19C>G	6.37:g.31324917G>C	ENSP00000399168:p.Arg7Gly	Somatic	60	0.00	0		1199	43.50	923	WXS	Illumina HiSeq	Phase_IV	31432896	48	23.44	15	Q29764	Missense_Mutation	SNP	HMMPfam_MHC_I,PatternScan_IG_MHC,HMMPfam_C1-set,HMMSmart_SM00407,HMMPfam_MHC_I_C,superfamily_MHC antigen-recognition domain,superfamily_Immunoglobulin	p.R7G	ENST00000412585.2	37	c.19	CCDS34394.1	6	.	.	.	.	.	.	.	.	.	.	N	11.58	1.681701	0.29872	.	.	ENSG00000234745	ENST00000412585	T	0.00633	6.08	3.34	0.474	0.16768	.	5.945680	0.01256	N	0.009039	T	0.00412	0.0013	M	0.66506	2.035	0.09310	N	1	P	0.38992	0.653	B	0.37989	0.262	T	0.44159	-0.9346	10	0.72032	D	0.01	.	3.23	0.06745	0.2623:0.227:0.5107:0.0	.	7	P01889	1B07_HUMAN	G	7	ENSP00000399168:R7G	ENSP00000399168:R7G	R	-	1	2	HLA-B	31432896	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-0.153000	0.10144	0.244000	0.21351	0.442000	0.29010	CGA	-	NULL		0.682	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-B	protein_coding	OTTHUMT00000076280.4	G	NM_005514		31432896	-1	no_errors	NM_005514.6	genbank	human	reviewed	54_36p	missense	SNP	0.000	C
ASB15	142685	genome.wustl.edu	37	7	123269106	123269106	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2888-03A-01W-0732-08	TCGA-AB-2888-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	c0c5cc35-b82e-4843-abd2-59739c85097d	22b0fe6d-f07e-4e6c-b9c6-1a8d4c928685	g.chr7:123269106C>T	ENST00000451558.1	+	12	1579	c.1058C>T	c.(1057-1059)gCg>gTg	p.A353V	ASB15_ENST00000540573.1_Missense_Mutation_p.A353V|ASB15_ENST00000451215.1_Missense_Mutation_p.A353V|ASB15_ENST00000434204.1_Missense_Mutation_p.A353V|ASB15_ENST00000275699.3_Missense_Mutation_p.A353V			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	353					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						AGGAAGACTGCGCTGTATTTT	0.443																																						dbGAP											0			7											168.0	152.0	158.0					7																	123269106		2203	4300	6503	123056342	SO:0001583	missense	0			AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"""Ankyrin repeat domain containing"""	19767	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 15"""			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.1058C>T	7.37:g.123269106C>T	ENSP00000397655:p.Ala353Val	Somatic	111	0.89	1		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	123056342	79	31.62	37	Q3ZCP3|Q3ZCP5|Q68D37	Missense_Mutation	SNP	HMMPfam_SOCS_box,HMMSmart_SM00253,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat	p.A353V	ENST00000451558.1	37	c.1058	CCDS34742.1	7	.	.	.	.	.	.	.	.	.	.	C	33	5.210454	0.95069	.	.	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000542545;ENST00000275699	T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38	6.17	6.17	0.99709	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.80428	0.4621	M	0.63208	1.945	0.58432	D	0.999998	D	0.71674	0.998	D	0.64321	0.924	T	0.79060	-0.1958	10	0.59425	D	0.04	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	353	Q8WXK1	ASB15_HUMAN	V	353;353;353;353;142;353	ENSP00000397655:A353V;ENSP00000390963:A353V;ENSP00000416433:A353V;ENSP00000438643:A353V;ENSP00000275699:A353V	ENSP00000275699:A353V	A	+	2	0	ASB15	123056342	0.998000	0.40836	0.969000	0.41365	0.964000	0.63967	5.766000	0.68843	2.941000	0.99782	0.655000	0.94253	GCG	-	HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat		0.443	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB15	protein_coding	OTTHUMT00000347493.1	C			123056342	+1	no_errors	NM_080928.3	genbank	human	validated	54_36p	missense	SNP	0.997	T
CPNE3	8895	genome.wustl.edu	37	8	87557034	87557034	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2888-03A-01W-0732-08	TCGA-AB-2888-11A-01W-0732-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	c0c5cc35-b82e-4843-abd2-59739c85097d	22b0fe6d-f07e-4e6c-b9c6-1a8d4c928685	g.chr8:87557034A>G	ENST00000521271.1	+	9	862	c.700A>G	c.(700-702)Aca>Gca	p.T234A	CPNE3_ENST00000198765.4_Missense_Mutation_p.T234A	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	234					lipid metabolic process (GO:0006629)|protein phosphorylation (GO:0006468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|transporter activity (GO:0005215)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						GACCACCATGACAAAACTGAA	0.313																																						dbGAP											0			8											149.0	137.0	141.0					8																	87557034		2203	4300	6503	87626150	SO:0001583	missense	0			AB014536	CCDS6243.1	8q21	2008-07-03				ENSG00000085719			2316	protein-coding gene	gene with protein product		604207				9430674	Standard	NM_003909		Approved		uc003ydv.2	O75131		ENST00000521271.1:c.700A>G	8.37:g.87557034A>G	ENSP00000430934:p.Thr234Ala	Somatic	117	0.85	1		42	38.24	26	WXS	Illumina HiSeq	Phase_IV	87626150	66	27.47	25	A8KA47|Q8IYA1	Missense_Mutation	SNP	HMMPfam_C2,HMMSmart_C2,HMMSmart_VWA,superfamily_C2_CaLB,HMMPfam_Copine,superfamily_SSF53300	p.T234A	ENST00000521271.1	37	c.700	CCDS6243.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.562|8.562	0.877901|0.877901	0.17395|0.17395	.|.	.|.	ENSG00000085719|ENSG00000085719	ENST00000198765;ENST00000521271;ENST00000523072|ENST00000517391	T;T;T|.	0.42900|.	1.15;1.15;0.96|.	5.8|5.8	5.8|5.8	0.92144|0.92144	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);|.	0.232564|.	0.43747|.	D|.	0.000535|.	T|.	0.21103|.	0.0508|.	N|N	0.01535|0.01535	-0.81|-0.81	0.41594|0.41594	D|D	0.988817|0.988817	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|.	0.25984|.	-1.0116|.	10|.	0.15952|.	T|.	0.53|.	-15.5799|-15.5799	9.6792|9.6792	0.40059|0.40059	0.7406:0.0:0.0:0.2594|0.7406:0.0:0.0:0.2594	.|.	234|.	O75131|.	CPNE3_HUMAN|.	A|W	234|122	ENSP00000198765:T234A;ENSP00000430934:T234A;ENSP00000427791:T234A|.	ENSP00000198765:T234A|.	T|X	+|+	1|3	0|0	CPNE3|CPNE3	87626150|87626150	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.039000|3.039000	0.49791|0.49791	2.210000|2.210000	0.71456|0.71456	0.528000|0.528000	0.53228|0.53228	ACA|TGA	-	HMMSmart_C2,superfamily_C2_CaLB		0.313	CPNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE3	protein_coding	OTTHUMT00000374994.1	A			87626150	+1	no_errors	NM_003909.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
BRMS1	25855	genome.wustl.edu	37	11	66108791	66108791	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AB-2888-03A-01W-0732-08	TCGA-AB-2888-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	c0c5cc35-b82e-4843-abd2-59739c85097d	22b0fe6d-f07e-4e6c-b9c6-1a8d4c928685	g.chr11:66108791G>A	ENST00000359957.3	-	4	404	c.244C>T	c.(244-246)Cga>Tga	p.R82*	BRMS1_ENST00000425825.2_Nonsense_Mutation_p.R82*|RP11-867G23.12_ENST00000526655.1_RNA	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1	82					apoptotic process (GO:0006915)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of anoikis (GO:2000210)|positive regulation of protein deacetylation (GO:0090312)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)	p.R82*(1)		large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						TGACTCAGTCGTTCCCTGAAC	0.602																																					GBM(7;55 307 2662 20856 28942)	dbGAP											1	Substitution - Nonsense(1)	liver(1)	11											38.0	42.0	41.0					11																	66108791		2200	4295	6495	65865367	SO:0001587	stop_gained	0			AF147350	CCDS8135.1, CCDS44654.1	11q13-q13.2	2008-02-05				ENSG00000174744			17262	protein-coding gene	gene with protein product		606259				10850410	Standard	XM_005273883		Approved	DKFZP564A063	uc001oho.1	Q9HCU9		ENST00000359957.3:c.244C>T	11.37:g.66108791G>A	ENSP00000353042:p.Arg82*	Somatic	54	0.00	0		31	16.22	6	WXS	Illumina HiSeq	Phase_IV	65865367	34	22.73	10	Q6IAI2	Nonsense_Mutation	SNP	HMMPfam_Sds3	p.R82*	ENST00000359957.3	37	c.244	CCDS8135.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.854658|5.854658	0.97030|0.97030	.|.	.|.	ENSG00000174744|ENSG00000174744	ENST00000425825;ENST00000359957;ENST00000530756|ENST00000524699	.|.	.|.	.|.	4.17|4.17	4.17|4.17	0.49024|0.49024	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.63721	.|0.2535	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69895	.|-0.5021	.|3	0.02654|.	T|.	1|.	-18.1714|-18.1714	14.3494|14.3494	0.66691|0.66691	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|M	82|44	.|.	ENSP00000353042:R82X|.	R|T	-|-	1|2	2|0	BRMS1|BRMS1	65865367|65865367	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.704000|2.704000	0.47118|0.47118	2.332000|2.332000	0.79248|0.79248	0.563000|0.563000	0.77884|0.77884	CGA|ACG	-	HMMPfam_Sds3		0.602	BRMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRMS1	protein_coding	OTTHUMT00000392958.2	G	NM_015399		65865367	-1	no_errors	NM_001024957.1	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A
DDX23	9416	genome.wustl.edu	37	12	49239405	49239405	+	Missense_Mutation	SNP	C	C	T	rs139040339		TCGA-AB-2888-03A-01W-0732-08	TCGA-AB-2888-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	c0c5cc35-b82e-4843-abd2-59739c85097d	22b0fe6d-f07e-4e6c-b9c6-1a8d4c928685	g.chr12:49239405C>T	ENST00000308025.3	-	2	240	c.161G>A	c.(160-162)cGa>cAa	p.R54Q	DDX23_ENST00000553182.1_5'UTR	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	54	Arg-rich.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						GCTGCCTCCTCGACGTCTATC	0.498																																						dbGAP											0			12											150.0	143.0	146.0					12																	49239405		2203	4300	6503	47525672	SO:0001583	missense	0			AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"""DEAD-boxes"""	17347	protein-coding gene	gene with protein product		612172	"""PRP28 homolog, yeast"""			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.161G>A	12.37:g.49239405C>T	ENSP00000310723:p.Arg54Gln	Somatic	74	1.32	1		52	40.23	35	WXS	Illumina HiSeq	Phase_IV	47525672	39	29.09	16	B2R600|B4DH15|O43188	Missense_Mutation	SNP	PatternScan_DEAD_ATP_HELICASE,HMMPfam_Helicase_C,HMMSmart_SM00490,HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.R54Q	ENST00000308025.3	37	c.161	CCDS8770.1	12	.	.	.	.	.	.	.	.	.	.	C	19.67	3.871835	0.72180	.	.	ENSG00000174243	ENST00000308025;ENST00000552512;ENST00000551468	T	0.21543	2.0	6.0	6.0	0.97389	.	0.000000	0.64402	D	0.000006	T	0.21590	0.0520	N	0.11756	0.17	0.48632	D	0.999684	P	0.44241	0.829	P	0.49528	0.614	T	0.02705	-1.1121	10	0.28530	T	0.3	0.0223	19.3312	0.94288	0.0:1.0:0.0:0.0	.	54	Q9BUQ8	DDX23_HUMAN	Q	54	ENSP00000310723:R54Q	ENSP00000310723:R54Q	R	-	2	0	DDX23	47525672	0.993000	0.37304	0.957000	0.39632	0.860000	0.49131	4.810000	0.62598	2.868000	0.98415	0.556000	0.70494	CGA	-	NULL		0.498	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX23	protein_coding	OTTHUMT00000408897.2	C	NM_004818		47525672	-1	no_errors	NM_004818.2	genbank	human	reviewed	54_36p	missense	SNP	0.853	T
GPR183	1880	genome.wustl.edu	37	13	99947482	99947482	+	Silent	SNP	A	A	G			TCGA-AB-2888-03A-01W-0732-08	TCGA-AB-2888-11A-01W-0732-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	c0c5cc35-b82e-4843-abd2-59739c85097d	22b0fe6d-f07e-4e6c-b9c6-1a8d4c928685	g.chr13:99947482A>G	ENST00000376414.4	-	2	1001	c.918T>C	c.(916-918)ttT>ttC	p.F306F	UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	306					G-protein coupled receptor signaling pathway (GO:0007186)|humoral immune response (GO:0006959)|immune response (GO:0006955)|mature B cell differentiation involved in immune response (GO:0002313)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|oxysterol binding (GO:0008142)			cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						AGAAGTAGATAAAAGGGTCCA	0.418																																						dbGAP											0			13											103.0	95.0	97.0					13																	99947482		2203	4300	6503	98745483	SO:0001819	synonymous_variant	0			L08177	CCDS9492.1	13q32.3	2012-08-21	2008-07-21	2008-07-21	ENSG00000169508	ENSG00000169508		"""GPCR / Class A : Orphans"""	3128	protein-coding gene	gene with protein product	"""EBV-induced G-protein coupled receptor 2"""	605741	"""Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor)"""	EBI2		8383238	Standard	NM_004951		Approved		uc001vog.3	P32249	OTTHUMG00000017263	ENST00000376414.4:c.918T>C	13.37:g.99947482A>G		Somatic	124	0.79	1		584	47.63	532	WXS	Illumina HiSeq	Phase_IV	98745483	78	29.73	33	B2R8N5|Q53F99|Q5JUH7	Silent	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321	p.F306	ENST00000376414.4	37	c.918	CCDS9492.1	13																																																																																			-	HMMPfam_7tm_1,superfamily_SSF81321		0.418	GPR183-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR183	protein_coding	OTTHUMT00000045582.2	A	NM_004951		98745483	-1	no_errors	NM_004951.4	genbank	human	reviewed	54_36p	silent	SNP	0.972	G
Unknown	0	genome.wustl.edu	37	15	22440508	22440508	+	IGR	SNP	G	G	A	rs551398141	byFrequency	TCGA-AB-2888-03A-01W-0732-08	TCGA-AB-2888-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	c0c5cc35-b82e-4843-abd2-59739c85097d	22b0fe6d-f07e-4e6c-b9c6-1a8d4c928685	g.chr15:22440508G>A								RP11-2F9.4 (4331 upstream) : IGHV1OR15-1 (7873 downstream)																							AGTGGGACTCGTACCACTGTC	0.478													g|||	2	0.000399361	0.0	0.0	5008	,	,		34518	0.0		0.002	False		,,,				2504	0.0					dbGAP											0			15																																								19941872	SO:0001628	intergenic_variant	0																															15.37:g.22440508G>A		Somatic	190	0.00	0		745	0.00	0	WXS	Illumina HiSeq	Phase_IV	19941872	123	25.30	42		Silent	SNP	HMMPfam_Ribosomal_S8e	p.Y113		37	c.339		15																																																																																			-	HMMPfam_Ribosomal_S8e	0	0.478					LOC388076			G			19941872	-1	pseudogene	XM_931016.1	genbank	human	model	54_36p	silent	SNP	1.000	A
KIT	3815	genome.wustl.edu	37	4	55589771	55589772	+	In_Frame_Ins	INS	-	-	CTTCTT			TCGA-AB-2888-03A-01W-0732-08	TCGA-AB-2888-11A-01W-0732-08	-	-	-	CTTCTT	-	-	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	c0c5cc35-b82e-4843-abd2-59739c85097d	22b0fe6d-f07e-4e6c-b9c6-1a8d4c928685	g.chr4:55589771_55589772insCTTCTT	ENST00000288135.5	+	8	1350_1351	c.1253_1254insCTTCTT	c.(1252-1257)tacgac>taCTTCTTcgac	p.418_419YD>YFFD		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	418	Ig-like C2-type 5.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.Y418_D419>G(4)|p.Y418_D419insFF(3)|p.T417_D419>I(2)|p.T417_D419>RG(2)|p.T417_D419>Y(2)|p.T417_R420>R(1)|p.T417_V422>SRIL(1)|p.T417_D419>F(1)|p.T417_D419>G(1)|p.T417_D419>KT(1)|p.Y418_D419insFL(1)|p.T417_D419>L(1)|p.T417_D419>N(1)|p.T417_D419>KS(1)|p.Y418_R420>V(1)|p.T417_D419>RA(1)|p.T417_D419>S(1)|p.T417_D419>V(1)|p.T417_R420>SVIVG(1)|p.Y418_D419del(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATCCTGACTTACGACAGGCTCG	0.475		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													dbGAP	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"""L, M, O, E"""	28	Complex - deletion inframe(22)|Insertion - In frame(4)|Deletion - In frame(1)|Complex - insertion inframe(1)	haematopoietic_and_lymphoid_tissue(28)	4																																								55284529	SO:0001652	inframe_insertion	0	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	Exception_encountered	4.37:g.55589771_55589772insCTTCTT	ENSP00000288135:p.Tyr418_Asp419insPhePhe	Somatic	NA	NA	NA		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	55284528	NA	NA	NA	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	In_Frame_Ins	INS	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,HMMSmart_IGc2,HMMSmart_IG,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.419in_frame_insFF	ENST00000288135.5	37	c.1253_1254	CCDS3496.1	4																																																																																			-	NULL		0.475	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIT	protein_coding	OTTHUMT00000250618.1	-			55284529	+1	no_errors	NM_000222.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	0.002:0.002	CTTCTT
ARHGAP18	93663	genome.wustl.edu	37	6	129950550	129950553	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-AB-2888-03A-01W-0732-08	TCGA-AB-2888-11A-01W-0732-08	TCTT	TCTT	TCTT	-	TCTT	TCTT	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	c0c5cc35-b82e-4843-abd2-59739c85097d	22b0fe6d-f07e-4e6c-b9c6-1a8d4c928685	g.chr6:129950550_129950553delTCTT	ENST00000368149.2	-	5	819_822	c.731_734delAAGA	c.(730-735)aaagagfs	p.KE244fs		NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		CTTGGAGCTCTCTTTCTGATTGAG	0.436																																						dbGAP											0			6																																								129992246	SO:0001589	frameshift_variant	0			AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"""Rho GTPase activating proteins"""	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.731_734delAAGA	6.37:g.129950550_129950553delTCTT	ENSP00000357131:p.Lys244fs	Somatic	NA	NA	NA		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	129992243	NA	NA	NA		Frame_Shift_Del	DEL	HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP	p.K244fs	ENST00000368149.2	37	c.734_731	CCDS34535.1	6																																																																																			-	NULL		0.436	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP18	protein_coding	OTTHUMT00000042185.2	TCTT	NM_033515		129992246	-1	no_errors	NM_033515.2	genbank	human	validated	54_36p	frame_shift_del	DEL	0.979:0.998:1.000:1.000	-
