#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_CAF	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_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_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_ORegAnno_bin	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_normal_ref_reads	i_normal_ref_reads_val	i_normal_vaf	i_normal_vaf_val	i_normal_var_reads	i_normal_var_reads_val	i_reference	i_refseq_mrna_id	i_rsID	i_rsID_ref_var_alleles	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_tumor_ref_reads	i_tumor_ref_reads_val	i_tumor_vaf	i_tumor_vaf_val	i_tumor_var_reads	i_tumor_var_reads_val	i_type	i_ucsc_cons	i_variant
FAM120C	54954	genome.wustl.edu	37	X	54099529	54099529	+	Silent	SNP	A	A	G			TCGA-4V-A9QX-01A-11D-A423-09	TCGA-4V-A9QX-11A-21D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dcf612cc-682c-4531-9ca6-f96daec3f7f9	a6247991-0f9d-43f6-803b-21382a262aac	g.chrX:54099529A>G	ENST00000375180.2	-	16	3284	c.3228T>C	c.(3226-3228)aaT>aaC	p.N1076N	FAM120C_ENST00000328235.4_3'UTR	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	1076							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TCTTCTCCCTATTATTCATAG	0.448																																							0											0													223.0	173.0	190.0					X																	54099529		2203	4300	6503	SO:0001819	synonymous_variant	0			AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.3228T>C	X.37:g.54099529A>G			B2RMT7	Silent	SNP	NULL	p.N1076	ENST00000375180.2	37	c.3228	CCDS14356.1	X																																																																																			0	NULL		0.448	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM120C	protein_coding	OTTHUMT00000056795.2	93	289	0	0.69	0	2	A	NM_017848	0	0		54099529	-1	no_errors	ENST00000375180	ensembl	human	known	74_37	silent	73	281	13.1	7.54	11	23	SNP	0.992	G
SLITRK4	139065	genome.wustl.edu	37	X	142718489	142718489	+	Missense_Mutation	SNP	T	T	C			TCGA-4V-A9QX-01A-11D-A423-09	TCGA-4V-A9QX-11A-21D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dcf612cc-682c-4531-9ca6-f96daec3f7f9	a6247991-0f9d-43f6-803b-21382a262aac	g.chrX:142718489T>C	ENST00000381779.4	-	2	661	c.436A>G	c.(436-438)Att>Gtt	p.I146V	SLITRK4_ENST00000338017.4_Missense_Mutation_p.I146V|SLITRK4_ENST00000356928.1_Missense_Mutation_p.I146V	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	146						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCGTTCAATATACTTGATT	0.378																																							0											0													81.0	82.0	82.0					X																	142718489		2203	4300	6503	SO:0001583	missense	0			BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.436A>G	X.37:g.142718489T>C	ENSP00000371198:p.Ile146Val		Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.I146V	ENST00000381779.4	37	c.436	CCDS14679.1	X	.	.	.	.	.	.	.	.	.	.	T	14.91	2.677580	0.47886	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.62364	0.03;0.03;0.03	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.68787	0.3039	L	0.41492	1.28	0.80722	D	1	D	0.64830	0.994	D	0.64237	0.923	T	0.68416	-0.5414	10	0.40728	T	0.16	-9.957	13.1529	0.59500	0.0:0.0:0.0:1.0	.	146	Q8IW52	SLIK4_HUMAN	V	146	ENSP00000371198:I146V;ENSP00000349400:I146V;ENSP00000336627:I146V	ENSP00000336627:I146V	I	-	1	0	SLITRK4	142546155	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	1.788000	0.52465	0.486000	0.48141	ATT	0	smart_Leu-rich_rpt_typical-subtyp		0.378	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK4	protein_coding	OTTHUMT00000058617.1	77	309	0	0.00	0	0	T	NM_173078	0	0		142718489	-1	no_errors	ENST00000338017	ensembl	human	known	74_37	missense	55	232	11.29	6.83	7	17	SNP	1	C
LINC01128	643837	genome.wustl.edu	37	1	762330	762330	+	RNA	SNP	G	G	T	rs74045217		TCGA-4V-A9QX-01A-11D-A423-09	TCGA-4V-A9QX-11A-21D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dcf612cc-682c-4531-9ca6-f96daec3f7f9	a6247991-0f9d-43f6-803b-21382a262aac	g.chr1:762330G>T	ENST00000445118.2	+	0	0				LINC00115_ENST00000473798.1_lincRNA	NR_047519.1|NR_047520.1|NR_047521.1|NR_047522.1|NR_047523.1|NR_047524.1|NR_047525.1																						CACCGCTAGTGGGAGGCGATT	0.622																																							0											0																																												0																															1.37:g.762330G>T				RNA	SNP	0	NULL	ENST00000445118.2	37	NULL		1																																																																																			0	0		0.622	RP11-206L10.11-001	KNOWN	basic	lincRNA	LINC00115	processed_transcript	OTTHUMT00000007015.2	55	95	0	1.04	0	1	G		rs74045217	G->T		762330	-1	no_errors	ENST00000473798	ensembl	human	known	74_37	rna	56	85	8.2	4.49	5	4	SNP	0.007	T
NFYC	4802	genome.wustl.edu	37	1	41157241	41157241	+	5'Flank	SNP	C	C	A			TCGA-4V-A9QX-01A-11D-A423-09	TCGA-4V-A9QX-11A-21D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dcf612cc-682c-4531-9ca6-f96daec3f7f9	a6247991-0f9d-43f6-803b-21382a262aac	g.chr1:41157241C>A	ENST00000456393.2	+	0	0				NFYC_ENST00000372653.1_5'Flank|RP4-739H11.4_ENST00000606277.1_RNA|NFYC_ENST00000447388.3_5'Flank|NFYC_ENST00000425457.2_5'Flank|NFYC_ENST00000427410.2_5'Flank|NFYC_ENST00000372654.1_5'Flank			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma						cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			TTAAAACTCTCAGATCTCATT	0.627																																							0											0																																										SO:0001631	upstream_gene_variant	0			U78774	CCDS455.1, CCDS44120.1, CCDS44121.1, CCDS44122.1, CCDS44123.1	1p32	2008-11-11			ENSG00000066136	ENSG00000066136			7806	protein-coding gene	gene with protein product		605344				8921405, 9249075	Standard	NM_014223		Approved	CBF-C, NF-YC	uc009vwd.3	Q13952	OTTHUMG00000007729		1.37:g.41157241C>A	Exception_encountered		B4DUS6|B4DW63|D3DPV9|F8VWM3|Q59GY4|Q5T6K8|Q5T6K9|Q5T6L1|Q5TZR6|Q92869|Q9HBX1|Q9NXB5|Q9UM67|Q9UML0|Q9UMT7	RNA	SNP	0	NULL	ENST00000456393.2	37	NULL	CCDS44121.1	1																																																																																			0	0		0.627	NFYC-017	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100130557	protein_coding	OTTHUMT00000386296.1	54	138	1.82	0.00	1	0	C	NM_014223	0	0		41157241	-1	no_errors	ENST00000606277	ensembl	human	known	74_37	rna	46	161	8	6.40	4	11	SNP	0.01	A
ITSN2	50618	genome.wustl.edu	37	2	24469672	24469672	+	Missense_Mutation	SNP	G	G	C			TCGA-4V-A9QX-01A-11D-A423-09	TCGA-4V-A9QX-11A-21D-A426-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dcf612cc-682c-4531-9ca6-f96daec3f7f9	a6247991-0f9d-43f6-803b-21382a262aac	g.chr2:24469672G>C	ENST00000355123.4	-	28	3822	c.3379C>G	c.(3379-3381)Cat>Gat	p.H1127D	ITSN2_ENST00000361999.3_Missense_Mutation_p.H1100D|ITSN2_ENST00000406921.3_Missense_Mutation_p.H1127D	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1127	SH3 5. {ECO:0000255|PROSITE- ProRule:PRU00192}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATACCAGGATGAAAGGCAGGT	0.373																																							0											0													91.0	91.0	91.0					2																	24469672		2203	4300	6503	SO:0001583	missense	0			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.3379C>G	2.37:g.24469672G>C	ENSP00000347244:p.His1127Asp		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox	p.H1127D	ENST00000355123.4	37	c.3379	CCDS1710.2	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.08|10.08	1.251854|1.251854	0.22880|0.22880	.|.	.|.	ENSG00000198399|ENSG00000198399	ENST00000416160|ENST00000361999;ENST00000355123;ENST00000380868;ENST00000406921	T|T;T;T;T	0.15718|0.16597	2.4|2.33;2.33;2.33;2.33	5.59|5.59	5.59|5.59	0.84812|0.84812	.|Src homology-3 domain (2);	.|0.224065	.|0.21837	.|U	.|0.068400	T|T	0.09379|0.09379	0.0231|0.0231	N|N	0.08118|0.08118	0|0	0.37309|0.37309	D|D	0.909061|0.909061	.|B;B;B	.|0.29805	.|0.257;0.157;0.097	.|B;B;B	.|0.29077	.|0.098;0.069;0.031	T|T	0.33675|0.33675	-0.9859|-0.9859	7|10	0.28530|0.13470	T|T	0.3|0.59	.|.	14.7834|14.7834	0.69784|0.69784	0.0:0.0:0.8557:0.1443|0.0:0.0:0.8557:0.1443	.|.	.|1127;1100;1127	.|Q9NZM3-3;Q9NZM3-2;Q9NZM3	.|.;.;ITSN2_HUMAN	L|D	54|1100;1127;1100;1127	ENSP00000389013:F54L|ENSP00000354561:H1100D;ENSP00000347244:H1127D;ENSP00000370250:H1100D;ENSP00000384499:H1127D	ENSP00000389013:F54L|ENSP00000347244:H1127D	F|H	-|-	3|1	2|0	ITSN2|ITSN2	24323176|24323176	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	4.951000|4.951000	0.63610|0.63610	2.809000|2.809000	0.96659|0.96659	0.467000|0.467000	0.42956|0.42956	TTC|CAT	0	superfamily_SH3_domain,pfscan_SH3_domain		0.373	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ITSN2	protein_coding	OTTHUMT00000207620.2	144	389	0	0.00	0	0	G	NM_006277	0	0		24469672	-1	no_errors	ENST00000355123	ensembl	human	known	74_37	missense	122	343	7.58	7.30	10	27	SNP	0.999	C
BIRC6	57448	genome.wustl.edu	37	2	32582265	32582265	+	Silent	SNP	T	T	A			TCGA-4V-A9QX-01A-11D-A423-09	TCGA-4V-A9QX-11A-21D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dcf612cc-682c-4531-9ca6-f96daec3f7f9	a6247991-0f9d-43f6-803b-21382a262aac	g.chr2:32582265T>A	ENST00000421745.2	+	1	170	c.36T>A	c.(34-36)acT>acA	p.T12T		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	12					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CTCCCGGGACTGTCACTGAGC	0.726																																					Pancreas(94;175 1509 16028 18060 45422)		0											0													4.0	5.0	5.0					2																	32582265		1942	4066	6008	SO:0001819	synonymous_variant	0			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.36T>A	2.37:g.32582265T>A			Q9ULD1	Silent	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.T12	ENST00000421745.2	37	c.36	CCDS33175.2	2																																																																																			0	NULL		0.726	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	protein_coding	OTTHUMT00000318769.3	75	67	0	0.00	0	0	T	NM_016252	0	0		32582265	1	no_errors	ENST00000421745	ensembl	human	known	74_37	silent	56	53	8.2	12.90	5	8	SNP	1	A
ZDBF2	57683	genome.wustl.edu	37	2	207171599	207171599	+	Missense_Mutation	SNP	T	T	C			TCGA-4V-A9QX-01A-11D-A423-09	TCGA-4V-A9QX-11A-21D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dcf612cc-682c-4531-9ca6-f96daec3f7f9	a6247991-0f9d-43f6-803b-21382a262aac	g.chr2:207171599T>C	ENST00000374423.3	+	5	2733	c.2347T>C	c.(2347-2349)Tgt>Cgt	p.C783R		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	783							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGATGAGAGCTGTGAGTCAGA	0.408																																							0											0													153.0	154.0	154.0					2																	207171599		1917	4120	6037	SO:0001583	missense	0			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.2347T>C	2.37:g.207171599T>C	ENSP00000363545:p.Cys783Arg		Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	pfam_Znf_DBF,smart_Znf_DBF	p.C783R	ENST00000374423.3	37	c.2347	CCDS46501.1	2	.	.	.	.	.	.	.	.	.	.	T	8.149	0.786901	0.16189	.	.	ENSG00000204186	ENST00000374423	T	0.50001	0.76	4.4	2.02	0.26589	.	0.470202	0.16012	N	0.233779	T	0.31071	0.0785	L	0.34521	1.04	0.09310	N	0.999995	P	0.50617	0.937	B	0.42851	0.4	T	0.09509	-1.0671	10	0.25106	T	0.35	.	3.8496	0.08949	0.1853:0.0994:0.0:0.7153	.	783	Q9HCK1	ZDBF2_HUMAN	R	783	ENSP00000363545:C783R	ENSP00000363545:C783R	C	+	1	0	ZDBF2	206879844	0.522000	0.26266	0.001000	0.08648	0.587000	0.36485	3.093000	0.50217	0.450000	0.26774	-0.376000	0.06991	TGT	0	NULL		0.408	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	protein_coding	OTTHUMT00000336458.1	80	287	0	0.00	0	0	T	NM_020923	0	0		207171599	1	no_errors	ENST00000374423	ensembl	human	known	74_37	missense	72	210	12.2	9.09	10	21	SNP	0.001	C
SPHKAP	80309	genome.wustl.edu	37	2	228883770	228883770	+	Silent	SNP	G	G	A			TCGA-4V-A9QX-01A-11D-A423-09	TCGA-4V-A9QX-11A-21D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dcf612cc-682c-4531-9ca6-f96daec3f7f9	a6247991-0f9d-43f6-803b-21382a262aac	g.chr2:228883770G>A	ENST00000392056.3	-	7	1846	c.1800C>T	c.(1798-1800)ccC>ccT	p.P600P	SPHKAP_ENST00000344657.5_Silent_p.P600P	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	600						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CACAAAGTGGGGGCATGGCTT	0.547																																							0											0													39.0	37.0	38.0					2																	228883770		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1800C>T	2.37:g.228883770G>A			Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	pfam_AKAP_110_C	p.P600	ENST00000392056.3	37	c.1800	CCDS46537.1	2																																																																																			0	NULL		0.547	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	protein_coding	OTTHUMT00000331750.1	47	128	0	0.00	0	0	G	NM_030623	0	0		228883770	-1	no_errors	ENST00000392056	ensembl	human	known	74_37	silent	39	116	11.36	8.66	5	11	SNP	0	A
POM121L2	94026	genome.wustl.edu	37	6	27277316	27277316	+	Silent	SNP	G	G	A			TCGA-4V-A9QX-01A-11D-A423-09	TCGA-4V-A9QX-11A-21D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dcf612cc-682c-4531-9ca6-f96daec3f7f9	a6247991-0f9d-43f6-803b-21382a262aac	g.chr6:27277316G>A	ENST00000444565.1	-	1	2633	c.2634C>T	c.(2632-2634)ggC>ggT	p.G878G	POM121L2_ENST00000377451.2_Silent_p.G814G	NM_033482.3	NP_258443.2	Q96KW2	P12L2_HUMAN	POM121 transmembrane nucleoporin-like 2	878										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	7						CAAACACTGAGCCAAAAGCCC	0.493																																							0											0													39.0	38.0	38.0					6																	27277316		692	1591	2283	SO:0001819	synonymous_variant	0			AL021808	CCDS59497.1	6p21.3	2012-03-13	2012-03-13		ENSG00000158553	ENSG00000158553			13973	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 2 (rat)"", ""POM121 membrane glycoprotein-like 2"""				Standard	NM_033482		Approved	POM121-L	uc011dku.1	Q96KW2	OTTHUMG00000014475	ENST00000444565.1:c.2634C>T	6.37:g.27277316G>A			C9J1I7	Silent	SNP	NULL	p.G878	ENST00000444565.1	37	c.2634	CCDS59497.1	6																																																																																			0	NULL		0.493	POM121L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POM121L2	protein_coding	OTTHUMT00000040143.2	37	256	0	0.00	0	0	G	NM_033482	0	0		27277316	-1	no_errors	ENST00000444565	ensembl	human	known	74_37	silent	44	213	12	8.15	6	19	SNP	0.27	A
OGFRL1	79627	genome.wustl.edu	37	6	72011263	72011263	+	Missense_Mutation	SNP	C	C	A			TCGA-4V-A9QX-01A-11D-A423-09	TCGA-4V-A9QX-11A-21D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dcf612cc-682c-4531-9ca6-f96daec3f7f9	a6247991-0f9d-43f6-803b-21382a262aac	g.chr6:72011263C>A	ENST00000370435.4	+	7	1001	c.867C>A	c.(865-867)gaC>gaA	p.D289E	RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000587397.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000585882.1_RNA|RP11-154D6.1_ENST00000587036.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000450998.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	289						membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						CAATTAGAGACAGAAGAGAAA	0.423																																							0											0													61.0	66.0	64.0					6																	72011263		2203	4300	6503	SO:0001583	missense	0				CCDS34482.1	6q13	2008-02-05			ENSG00000119900	ENSG00000119900			21378	protein-coding gene	gene with protein product							Standard	NM_024576		Approved	dJ331H24.1	uc003pfx.1	Q5TC84	OTTHUMG00000015000	ENST00000370435.4:c.867C>A	6.37:g.72011263C>A	ENSP00000359464:p.Asp289Glu		Q2TAC1|Q8NEQ4|Q9H7B5	Missense_Mutation	SNP	pfam_OGF_rcpt	p.D289E	ENST00000370435.4	37	c.867	CCDS34482.1	6	.	.	.	.	.	.	.	.	.	.	C	13.96	2.393430	0.42410	.	.	ENSG00000119900	ENST00000370435	T	0.47177	0.85	6.04	5.18	0.71444	Opioid growth factor receptor (OGFr) conserved domain (1);	0.158848	0.56097	D	0.000029	T	0.36991	0.0987	L	0.41492	1.28	0.35375	D	0.789369	D	0.53885	0.963	P	0.52309	0.695	T	0.21143	-1.0254	10	0.27785	T	0.31	-35.6143	15.3023	0.73962	0.0:0.9334:0.0:0.0666	.	289	Q5TC84	OGRL1_HUMAN	E	289	ENSP00000359464:D289E	ENSP00000359464:D289E	D	+	3	2	OGFRL1	72067984	1.000000	0.71417	0.999000	0.59377	0.223000	0.24884	2.106000	0.41835	1.576000	0.49790	0.563000	0.77884	GAC	0	pfam_OGF_rcpt		0.423	OGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGFRL1	protein_coding	OTTHUMT00000041153.2	96	228	0	0.00	0	0	C	NM_024576	0	0		72011263	1	no_errors	ENST00000370435	ensembl	human	known	74_37	missense	71	154	8.97	10.98	7	19	SNP	1	A
DNAH11	8701	genome.wustl.edu	37	7	21906096	21906096	+	Silent	SNP	C	C	T			TCGA-4V-A9QX-01A-11D-A423-09	TCGA-4V-A9QX-11A-21D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dcf612cc-682c-4531-9ca6-f96daec3f7f9	a6247991-0f9d-43f6-803b-21382a262aac	g.chr7:21906096C>T	ENST00000409508.3	+	71	11536	c.11505C>T	c.(11503-11505)gcC>gcT	p.A3835A	DNAH11_ENST00000328843.6_Silent_p.A3842A	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3842					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGGCAATTGCCGTCATGGAAG	0.403									Kartagener syndrome																														0											0													117.0	111.0	113.0					7																	21906096		1881	4107	5988	SO:0001819	synonymous_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.11505C>T	7.37:g.21906096C>T			Q9UJ82	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.A3842	ENST00000409508.3	37	c.11526		7																																																																																			0	pfam_Dynein_heavy_dom		0.403	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	protein_coding	OTTHUMT00000326582.6	49	194	0	0.00	0	0	C	NM_003777	0	0		21906096	1	no_errors	ENST00000328843	ensembl	human	known	74_37	silent	53	141	10.17	10.62	6	17	SNP	0	T
GTF2I	2969	genome.wustl.edu	37	7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A			TCGA-4V-A9QX-01A-11D-A423-09	TCGA-4V-A9QX-11A-21D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dcf612cc-682c-4531-9ca6-f96daec3f7f9	a6247991-0f9d-43f6-803b-21382a262aac	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13.0	13.0	13.0					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	330	161	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	323	141	7.45	11.88	26	19	SNP	1	A
ZBTB10	65986	genome.wustl.edu	37	8	81399772	81399772	+	Missense_Mutation	SNP	A	A	T	rs201044760		TCGA-4V-A9QX-01A-11D-A423-09	TCGA-4V-A9QX-11A-21D-A426-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dcf612cc-682c-4531-9ca6-f96daec3f7f9	a6247991-0f9d-43f6-803b-21382a262aac	g.chr8:81399772A>T	ENST00000430430.1	+	2	1506	c.727A>T	c.(727-729)Atg>Ttg	p.M243L	ZBTB10_ENST00000426744.2_Missense_Mutation_p.M243L|ZBTB10_ENST00000379091.4_Intron|Y_RNA_ENST00000605948.1_RNA|ZBTB10_ENST00000455036.3_Missense_Mutation_p.M243L	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	243					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			CAAGTCTCTAATGCAGAAGCT	0.617																																							0											0													31.0	34.0	33.0					8																	81399772		2001	4175	6176	SO:0001583	missense	0			AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	30953	protein-coding gene	gene with protein product						12477932	Standard	NM_001105539		Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.727A>T	8.37:g.81399772A>T	ENSP00000387462:p.Met243Leu		A4FVD0|Q86W96|Q8IXI9|Q96MH9	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.M243L	ENST00000430430.1	37	c.727	CCDS47880.1	8	.	.	.	.	.	.	.	.	.	.	A	1.034	-0.681003	0.03353	.	.	ENSG00000205189	ENST00000430430;ENST00000455036;ENST00000426744;ENST00000519370	T;T;T	0.06768	3.26;3.26;3.27	4.52	-1.28	0.09318	.	0.171155	0.37095	N	0.002246	T	0.01976	0.0062	N	0.01874	-0.695	0.27091	N	0.962855	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.43393	-0.9394	10	0.09843	T	0.71	.	3.8336	0.08885	0.2967:0.5007:0.092:0.1106	.	99;243;243	A8E4L4;Q96DT7;Q96DT7-2	.;ZBT10_HUMAN;.	L	243;243;243;71	ENSP00000387462:M243L;ENSP00000412036:M243L;ENSP00000416134:M243L	ENSP00000416134:M243L	M	+	1	0	ZBTB10	81562327	0.974000	0.33945	0.828000	0.32881	0.180000	0.23129	1.791000	0.38744	-0.059000	0.13154	-0.250000	0.11733	ATG	0	NULL		0.617	ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZBTB10	protein_coding	OTTHUMT00000338055.2	33	178	0	0.00	0	0	A	NM_023929	0	0		81399772	1	no_errors	ENST00000430430	ensembl	human	known	74_37	missense	29	152	17.14	9.47	6	16	SNP	0.988	T
TSTA3	7264	genome.wustl.edu	37	8	144695460	144695460	+	Silent	SNP	A	A	G			TCGA-4V-A9QX-01A-11D-A423-09	TCGA-4V-A9QX-11A-21D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dcf612cc-682c-4531-9ca6-f96daec3f7f9	a6247991-0f9d-43f6-803b-21382a262aac	g.chr8:144695460A>G	ENST00000425753.2	-	10	919	c.816T>C	c.(814-816)gaT>gaC	p.D272D	TSTA3_ENST00000529064.1_Silent_p.D272D	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	272					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|cytolysis (GO:0019835)|GDP-mannose metabolic process (GO:0019673)|leukocyte cell-cell adhesion (GO:0007159)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	coenzyme binding (GO:0050662)|electron carrier activity (GO:0009055)|GDP-4-dehydro-D-rhamnose reductase activity (GO:0042356)|GDP-L-fucose synthase activity (GO:0050577)|isomerase activity (GO:0016853)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			ACTTGGTTGTATCAAACTGGA	0.582																																							0											0													155.0	134.0	141.0					8																	144695460		2203	4300	6503	SO:0001819	synonymous_variant	0			U58766	CCDS6408.1	8q24.3	2012-02-22			ENSG00000104522	ENSG00000104522	1.1.1.271	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	12390	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 4E, member 1"", ""GDP-L-fucose synthase"""	137020				7803801, 1348494, 19027726	Standard	NM_003313		Approved	FX, P35B, SDR4E1	uc003yzb.2	Q13630	OTTHUMG00000165159	ENST00000425753.2:c.816T>C	8.37:g.144695460A>G			B2R8Y7|D3DWK5|Q567Q9|Q9UDG7	Silent	SNP	pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct	p.D272	ENST00000425753.2	37	c.816	CCDS6408.1	8																																																																																			0	NULL		0.582	TSTA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSTA3	protein_coding	OTTHUMT00000382263.1	107	243	0	0.00	0	0	A	NM_003313	0	0		144695460	-1	no_errors	ENST00000425753	ensembl	human	known	74_37	silent	71	191	7.79	9.43	6	20	SNP	0.997	G
OR5R1	219479	genome.wustl.edu	37	11	56184917	56184917	+	Silent	SNP	T	T	C			TCGA-4V-A9QX-01A-11D-A423-09	TCGA-4V-A9QX-11A-21D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dcf612cc-682c-4531-9ca6-f96daec3f7f9	a6247991-0f9d-43f6-803b-21382a262aac	g.chr11:56184917T>C	ENST00000312253.1	-	1	791	c.792A>G	c.(790-792)tcA>tcG	p.S264S		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					AGGAGTGATTTGATTTGGGCT	0.438																																							0											0													169.0	161.0	164.0					11																	56184917		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.792A>G	11.37:g.56184917T>C				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S264	ENST00000312253.1	37	c.792	CCDS31530.1	11																																																																																			0	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.438	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5R1	protein_coding	OTTHUMT00000334444.1	52	245	0	0.00	0	0	T	NM_001004744	0	0		56184917	-1	no_errors	ENST00000312253	ensembl	human	known	74_37	silent	38	171	9.52	9.52	4	18	SNP	0	C
PGM2L1	283209	genome.wustl.edu	37	11	74058312	74058312	+	Nonsense_Mutation	SNP	G	G	A	rs139328516		TCGA-4V-A9QX-01A-11D-A423-09	TCGA-4V-A9QX-11A-21D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dcf612cc-682c-4531-9ca6-f96daec3f7f9	a6247991-0f9d-43f6-803b-21382a262aac	g.chr11:74058312G>A	ENST00000298198.4	-	7	1131	c.820C>T	c.(820-822)Cag>Tag	p.Q274*		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	274					glucose metabolic process (GO:0006006)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	glucose-1,6-bisphosphate synthase activity (GO:0047933)|intramolecular transferase activity, phosphotransferases (GO:0016868)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					AAAGCCAACTGCACATAGTCA	0.393																																							0											0													91.0	85.0	87.0					11																	74058312		2200	4293	6493	SO:0001587	stop_gained	0			AB019210	CCDS8231.1	11q13.3	2008-12-01			ENSG00000165434	ENSG00000165434			20898	protein-coding gene	gene with protein product	"""glucose-1,6-bisphosphate synthase"""	611610				17804405	Standard	NM_173582		Approved	FLJ32029, BM32A	uc001ovb.1	Q6PCE3	OTTHUMG00000168132	ENST00000298198.4:c.820C>T	11.37:g.74058312G>A	ENSP00000298198:p.Gln274*		Q96MQ7|Q9UIK3	Nonsense_Mutation	SNP	pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III	p.Q274*	ENST00000298198.4	37	c.820	CCDS8231.1	11	.	.	.	.	.	.	.	.	.	.	G	39	7.793476	0.98492	.	.	ENSG00000165434	ENST00000298198	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-9.8625	16.7933	0.85595	0.0:0.0:1.0:0.0	.	.	.	.	X	274	.	ENSP00000298198:Q274X	Q	-	1	0	PGM2L1	73735960	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.535000	0.85469	0.563000	0.77884	CAG	0	pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III		0.393	PGM2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGM2L1	protein_coding	OTTHUMT00000398324.1	86	408	0	0.00	0	0	G	NM_173582	0	0		74058312	-1	no_errors	ENST00000298198	ensembl	human	known	74_37	nonsense	68	335	8.11	5.60	6	20	SNP	1	A
PKMYT1	9088	genome.wustl.edu	37	16	3024072	3024072	+	Silent	SNP	C	C	T	rs376585568		TCGA-4V-A9QX-01A-11D-A423-09	TCGA-4V-A9QX-11A-21D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dcf612cc-682c-4531-9ca6-f96daec3f7f9	a6247991-0f9d-43f6-803b-21382a262aac	g.chr16:3024072C>T	ENST00000262300.8	-	7	1747	c.1239G>A	c.(1237-1239)ccG>ccA	p.P413P	PKMYT1_ENST00000431515.2_Silent_p.P413P|PKMYT1_ENST00000574385.1_Silent_p.P404P|PKMYT1_ENST00000574730.1_Silent_p.P344P|PKMYT1_ENST00000440027.2_Silent_p.P413P|PKMYT1_ENST00000573944.1_Silent_p.P404P	NM_001258450.1|NM_004203.4|NM_182687.2	NP_001245379.1|NP_004194.3|NP_872629.1	Q99640	PMYT1_HUMAN	protein kinase, membrane associated tyrosine/threonine 1	413	Interaction with PIN1.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GTGAGCCAGGCGGGGTGGCTG	0.677																																							0											0								C	,	0,4384		0,0,2192	20.0	23.0	22.0		1239,1239	-11.0	0.6	16		22	1,8593		0,1,4296	no	coding-synonymous,coding-synonymous	PKMYT1	NM_004203.4,NM_182687.2	,	0,1,6488	TT,TC,CC		0.0116,0.0,0.0077	,	413/500,413/481	3024072	1,12977	2192	4297	6489	SO:0001819	synonymous_variant	0			AK097642	CCDS10486.1, CCDS45391.1, CCDS58414.1, CCDS58415.1	16p13.3	2014-06-13			ENSG00000127564	ENSG00000127564			29650	protein-coding gene	gene with protein product	"""membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase"", ""protein phosphatase 1, regulatory subunit 126"""	602474				9001210, 12606722	Standard	NM_004203		Approved	MYT1, PPP1R126	uc002csn.3	Q99640	OTTHUMG00000128975	ENST00000262300.8:c.1239G>A	16.37:g.3024072C>T			B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr/Thr_kinase_Cdc2_inhib,pfscan_Prot_kinase_dom	p.P413	ENST00000262300.8	37	c.1239	CCDS10486.1	16																																																																																			0	pirsf_Tyr/Thr_kinase_Cdc2_inhib		0.677	PKMYT1-001	KNOWN	basic|CCDS	protein_coding	PKMYT1	protein_coding	OTTHUMT00000250963.2	56	62	0	0.00	0	0	C	NM_004203	rs376585568	C->T		3024072	-1	no_errors	ENST00000262300	ensembl	human	known	74_37	silent	46	53	13.21	7.02	7	4	SNP	0.148	T
ALDH3A1	218	genome.wustl.edu	37	17	19646716	19646716	+	Missense_Mutation	SNP	T	T	G			TCGA-4V-A9QX-01A-11D-A423-09	TCGA-4V-A9QX-11A-21D-A426-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dcf612cc-682c-4531-9ca6-f96daec3f7f9	a6247991-0f9d-43f6-803b-21382a262aac	g.chr17:19646716T>G	ENST00000457500.2	-	2	552	c.223A>C	c.(223-225)Atc>Ctc	p.I75L	ALDH3A1_ENST00000444455.1_Missense_Mutation_p.I75L|ALDH3A1_ENST00000494157.2_Missense_Mutation_p.I2L|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.I75L|ALDH3A1_ENST00000485231.1_5'UTR|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.I75L	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	75					aging (GO:0007568)|cellular aldehyde metabolic process (GO:0006081)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|alcohol dehydrogenase (NADP+) activity (GO:0008106)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)		AGCTTCTGGATCATGTACTCG	0.607																																							0											0													136.0	124.0	128.0					17																	19646716		2203	4300	6503	SO:0001583	missense	0			M74542	CCDS11212.1	17p11.2	2010-05-07	2010-05-07		ENSG00000108602	ENSG00000108602	1.2.1.5	"""Aldehyde dehydrogenases"""	405	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase, dimeric NADP-preferring"""	100660		ALDH3		7774944, 1737758	Standard	NM_000691		Approved		uc010cqu.3	P30838	OTTHUMG00000059469	ENST00000457500.2:c.223A>C	17.37:g.19646716T>G	ENSP00000411821:p.Ile75Leu		A8K828|Q9BT37	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)	p.I75L	ENST00000457500.2	37	c.223	CCDS11212.1	17	.	.	.	.	.	.	.	.	.	.	T	0.416	-0.910617	0.02434	.	.	ENSG00000108602	ENST00000225740;ENST00000395555;ENST00000379258;ENST00000444455;ENST00000457500;ENST00000457844;ENST00000439102;ENST00000426645	T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97	4.82	0.967	0.19674	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	.	.	.	.	T	0.43590	0.1254	N	0.03304	-0.355	0.09310	N	0.999999	B;B	0.06786	0.001;0.001	B;B	0.17433	0.018;0.018	T	0.38045	-0.9679	9	0.02654	T	1	.	6.797	0.23731	0.0:0.0809:0.255:0.6641	.	75;75	A8K828;P30838	.;AL3A1_HUMAN	L	75;75;133;75;75;2;75;75	ENSP00000225740:I75L;ENSP00000378923:I75L;ENSP00000388469:I75L;ENSP00000411821:I75L;ENSP00000389766:I75L	ENSP00000225740:I75L	I	-	1	0	ALDH3A1	19587308	0.003000	0.15002	0.116000	0.21606	0.425000	0.31504	0.096000	0.15147	0.706000	0.31912	0.533000	0.62120	ATC	0	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)		0.607	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ALDH3A1	protein_coding	OTTHUMT00000132265.4	33	101	0	0.98	0	1	T	NM_000691	0	0		19646716	-1	no_errors	ENST00000225740	ensembl	human	known	74_37	missense	43	102	14	6.36	7	7	SNP	0.006	G
LGALS3BP	3959	genome.wustl.edu	37	17	76969227	76969227	+	Missense_Mutation	SNP	C	C	T			TCGA-4V-A9QX-01A-11D-A423-09	TCGA-4V-A9QX-11A-21D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dcf612cc-682c-4531-9ca6-f96daec3f7f9	a6247991-0f9d-43f6-803b-21382a262aac	g.chr17:76969227C>T	ENST00000262776.3	-	5	762	c.454G>A	c.(454-456)Ggc>Agc	p.G152S	LGALS3BP_ENST00000591778.1_Intron|LGALS3BP_ENST00000585407.1_Missense_Mutation_p.G152S	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	152					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			AGGTCGCAGCCCCGCTGGCTG	0.647																																					GBM(89;1105 1755 18102 21513)		0											0													26.0	23.0	24.0					17																	76969227		2203	4299	6502	SO:0001583	missense	0			L13210	CCDS11759.1	17q25	2014-07-09				ENSG00000108679		"""BTB/POZ domain containing"", ""Endogenous ligands"""	6564	protein-coding gene	gene with protein product	"""L3 antigen"", ""Mac-2-binding protein"", ""serum protein 90K"", ""transport and golgi organization 10 homolog B (Drosophila)"""	600626				7698018, 8034587, 8390986	Standard	NM_005567		Approved	MAC-2-BP, 90K, BTBD17B, TANGO10B, M2BP, gp90, CyCAP	uc002jwh.3	Q08380		ENST00000262776.3:c.454G>A	17.37:g.76969227C>T	ENSP00000262776:p.Gly152Ser		Q7M4S0|Q9UCH8|Q9UCH9|Q9UCI0	Missense_Mutation	SNP	pfam_SRCR,pfam_BACK,superfamily_Srcr_rcpt-rel,superfamily_BTB/POZ_fold,smart_Srcr_rcpt-rel,smart_BACK,pfscan_BTB/POZ-like,pfscan_SRCR,prints_SRCR	p.G152S	ENST00000262776.3	37	c.454	CCDS11759.1	17	.	.	.	.	.	.	.	.	.	.	C	13.92	2.380093	0.42207	.	.	ENSG00000108679	ENST00000262776;ENST00000536190	T	0.22134	1.97	3.04	3.04	0.35103	BTB/POZ fold (2);	0.445392	0.16774	N	0.200089	T	0.17619	0.0423	L	0.54323	1.7	0.09310	N	0.999996	P	0.43750	0.816	B	0.35859	0.212	T	0.14364	-1.0475	10	0.45353	T	0.12	.	9.8161	0.40853	0.0:1.0:0.0:0.0	.	152	Q08380	LG3BP_HUMAN	S	152;140	ENSP00000262776:G152S	ENSP00000262776:G152S	G	-	1	0	LGALS3BP	74480822	0.001000	0.12720	0.781000	0.31783	0.035000	0.12851	0.666000	0.25097	2.042000	0.60477	0.561000	0.74099	GGC	0	superfamily_BTB/POZ_fold		0.647	LGALS3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGALS3BP	protein_coding	OTTHUMT00000437785.3	22	99	0	0.00	0	0	C	NM_005567	0	0		76969227	-1	no_errors	ENST00000262776	ensembl	human	known	74_37	missense	17	82	10.53	11.70	2	11	SNP	0.154	T
AAR2	25980	genome.wustl.edu	37	20	34832739	34832739	+	Missense_Mutation	SNP	C	C	G			TCGA-4V-A9QX-01A-11D-A423-09	TCGA-4V-A9QX-11A-21D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dcf612cc-682c-4531-9ca6-f96daec3f7f9	a6247991-0f9d-43f6-803b-21382a262aac	g.chr20:34832739C>G	ENST00000373932.3	+	3	1224	c.878C>G	c.(877-879)aCc>aGc	p.T293S	AAR2_ENST00000320849.4_Missense_Mutation_p.T293S|AAR2_ENST00000397286.3_Missense_Mutation_p.T293S	NM_015511.3	NP_056326.2	Q9Y312	AAR2_HUMAN	AAR2 splicing factor homolog (S. cerevisiae)	293																	AAGCACCACACCCTCTACATC	0.542																																							0											0													233.0	186.0	202.0					20																	34832739		2203	4300	6503	SO:0001583	missense	0				CCDS13273.1	20q11.23	2012-07-20	2012-07-20	2012-07-20	ENSG00000131043	ENSG00000131043			15886	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 4"""	C20orf4			Standard	NM_015511		Approved	bA234K24.2	uc002xfc.3	Q9Y312	OTTHUMG00000032380	ENST00000373932.3:c.878C>G	20.37:g.34832739C>G	ENSP00000363043:p.Thr293Ser		E1P5S7|Q9H4F9|Q9P1P3|Q9UFK9	Missense_Mutation	SNP	pfam_AAR2	p.T293S	ENST00000373932.3	37	c.878	CCDS13273.1	20	.	.	.	.	.	.	.	.	.	.	C	3.132	-0.178216	0.06380	.	.	ENSG00000131043	ENST00000397286;ENST00000320849;ENST00000373932	T;T;T	0.40476	1.03;1.03;1.03	6.03	-5.17	0.02849	.	0.672835	0.16378	N	0.217010	T	0.11067	0.0270	N	0.00926	-1.1	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.0	T	0.41556	-0.9502	10	0.09084	T	0.74	.	11.1889	0.48673	0.3699:0.2195:0.4106:0.0	.	293;293	A2A2Q9;Q9Y312	.;CT004_HUMAN	S	293	ENSP00000380455:T293S;ENSP00000313674:T293S;ENSP00000363043:T293S	ENSP00000313674:T293S	T	+	2	0	C20orf4	34296153	0.017000	0.18338	0.016000	0.15963	0.263000	0.26337	-0.077000	0.11394	-0.372000	0.07992	0.655000	0.94253	ACC	0	pfam_AAR2		0.542	AAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AAR2	protein_coding	OTTHUMT00000079001.2	39	226	0	0.00	0	0	C	NM_015511	0	0		34832739	1	no_errors	ENST00000320849	ensembl	human	known	74_37	missense	59	174	10.61	11.68	7	23	SNP	0.165	G
PLCL1	5334	genome.wustl.edu	37	2	198948983	198948983	+	Frame_Shift_Del	DEL	T	T	-			TCGA-4V-A9QX-01A-11D-A423-09	TCGA-4V-A9QX-11A-21D-A426-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	dcf612cc-682c-4531-9ca6-f96daec3f7f9	a6247991-0f9d-43f6-803b-21382a262aac	g.chr2:198948983delT	ENST00000428675.1	+	2	1140	c.742delT	c.(742-744)tttfs	p.F248fs	PLCL1_ENST00000437704.2_Frame_Shift_Del_p.F150fs	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	248					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GAAAACAGTGTTTGAAGCAGC	0.453																																							0											0													141.0	142.0	141.0					2																	198948983		2203	4300	6503	SO:0001589	frameshift_variant	0			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.742delT	2.37:g.198948983delT	ENSP00000402861:p.Phe248fs		Q3MJ90|Q53SD3|Q7Z3S3	Frame_Shift_Del	DEL	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.F248fs	ENST00000428675.1	37	c.742	CCDS2326.2	2																																																																																			0	NULL		0.453	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL1	protein_coding	OTTHUMT00000340210.1	32	304	0	0.00	0	0	T	NM_006226	0	0		198948983	1	no_errors	ENST00000428675	ensembl	human	known	74_37	frame_shift_del	33	225	8.33	7.79	3	19	DEL	1	0
MT-CO1	4512	genome.wustl.edu	37	M	5910	5910	+	Missense_Mutation	SNP	G	G	C			TCGA-4V-A9QX-01A-11D-A423-09	TCGA-4V-A9QX-11A-21D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dcf612cc-682c-4531-9ca6-f96daec3f7f9	a6247991-0f9d-43f6-803b-21382a262aac	g.chrM:5910G>C	ENST00000361624.2	+	1	7	c.7G>C	c.(7-9)Gcc>Ccc	p.A3P	MT-TC_ENST00000387405.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-CO2_ENST00000361739.1_5'Flank|MT-ATP8_ENST00000361851.1_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TA_ENST00000387392.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	3					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						CACTGATGTTCGCCGACCGTT	0.478																																							0											0																																										SO:0001583	missense	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.7G>C	M.37:g.5910G>C	ENSP00000354499:p.Ala3Pro		Q34770	Missense_Mutation	SNP	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1	p.A3P	ENST00000361624.2	37	c.7		MT																																																																																			0	superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom		0.478	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MT-CO1	protein_coding		196	2	0	0.00	0	0	G	YP_003024028	0	0		5910	1	no_errors	ENST00000361624	ensembl	human	known	74_37	missense	33	1	64.89	0.00	61	0	SNP	NULL	C
KRTAP5-1	387264	genome.wustl.edu	37	11	1606282	1606282	+	Silent	SNP	T	T	C			TCGA-4V-A9QX-01A-11D-A423-09	TCGA-4V-A9QX-11A-21D-A426-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dcf612cc-682c-4531-9ca6-f96daec3f7f9	a6247991-0f9d-43f6-803b-21382a262aac	g.chr11:1606282T>C	ENST00000382171.2	-	1	231	c.198A>G	c.(196-198)aaA>aaG	p.K66K	KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	66	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CACAGCCCCCTTTGCCACAGC	0.662																																							0											0													81.0	97.0	92.0					11																	1606282		2200	4299	6499	SO:0001819	synonymous_variant	0			AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"""Keratin associated proteins"""	23596	protein-coding gene	gene with protein product		148022	"""keratin, cuticle, ultrahigh sulphur 1-like"""	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.198A>G	11.37:g.1606282T>C				Silent	SNP	NULL	p.K66	ENST00000382171.2	37	c.198	CCDS31330.1	11																																																																																			0	NULL		0.662	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-1	protein_coding	OTTHUMT00000127922.1	43	6	0	0.00	0	0	T	NM_001005922	0	0		1606282	-1	no_errors	ENST00000382171	ensembl	human	known	74_37	silent	70	7	7.89	0.00	6	0	SNP	0.7	C
FAM122B	159090	genome.wustl.edu	37	X	133930367	133930368	+	5'UTR	INS	-	-	G			TCGA-4V-A9QX-01A-11D-A423-09	TCGA-4V-A9QX-11A-21D-A426-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dcf612cc-682c-4531-9ca6-f96daec3f7f9	a6247991-0f9d-43f6-803b-21382a262aac	g.chrX:133930367_133930368insG	ENST00000370790.1	-	0	796_797				FAM122B_ENST00000343004.5_5'UTR|FAM122B_ENST00000298090.6_5'UTR|FAM122B_ENST00000493333.1_5'UTR|FAM122B_ENST00000486347.1_5'Flank|FAM122C_ENST00000414371.2_5'Flank	NM_001166599.2|NM_145284.5	NP_001160071.1|NP_660327.2	Q7Z309	F122B_HUMAN	family with sequence similarity 122B											breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|skin(1)	6	Acute lymphoblastic leukemia(192;0.000127)					gggcggaggcttggggacgggg	0.644																																							0											0																																										SO:0001623	5_prime_UTR_variant	0			BX538218	CCDS14643.1, CCDS55497.1, CCDS55498.1	Xq26.3	2008-02-05			ENSG00000156504	ENSG00000156504			30490	protein-coding gene	gene with protein product						12477932	Standard	NM_145284		Approved	DKFZp686L20116, RP11-308B5.5	uc004exq.3	Q7Z309	OTTHUMG00000022461	ENST00000370790.1:c.-133->C	X.37:g.133930367_133930368insG			A8K902|Q6PIM2|Q6ZU47|Q6ZV64|Q6ZVE4|Q8TB75	RNA	INS	0	NULL	ENST00000370790.1	37	NULL	CCDS55497.1	X																																																																																			0	0		0.644	FAM122B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM122B	protein_coding	OTTHUMT00000058382.1	16	0	0	0.00	0	0	0	NM_145284	0	0		133930368	-1	no_errors	ENST00000467413	ensembl	human	known	74_37	rna	9	1	18.18	0.00	2	0	INS	0.998:0.987	G
ADAMTS2	9509	genome.wustl.edu	37	5	178772260	178772262	+	In_Frame_Del	DEL	GCA	GCA	-	rs565885690|rs372468383	byFrequency	TCGA-4V-A9QX-01A-11D-A423-09	TCGA-4V-A9QX-11A-21D-A426-09	GCA	GCA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dcf612cc-682c-4531-9ca6-f96daec3f7f9	a6247991-0f9d-43f6-803b-21382a262aac	g.chr5:178772260_178772262delGCA	ENST00000251582.7	-	1	169_171	c.68_70delTGC	c.(67-72)ctgccg>ccg	p.L23del	ADAMTS2_ENST00000274609.5_In_Frame_Del_p.L23del	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	23					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		agcggcggcggcagcagcagcag	0.813																																							0											0									,	2,20,42		1,0,0,10,0,21					,	0.6	0.7			1	8,21,129		4,0,0,10,1,64	no	codingComplex,codingComplex	ADAMTS2	NM_021599.2,NM_014244.4	,	5,0,0,20,1,85	A1A1,A1A2,A1R,A2A2,A2R,RR		18.3544,34.375,22.973	,	,		10,41,171				SO:0001651	inframe_deletion	0			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.68_70delTGC	5.37:g.178772269_178772271delGCA	ENSP00000251582:p.Leu23del			In_Frame_Del	DEL	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS	p.L23in_frame_del	ENST00000251582.7	37	c.70_68	CCDS4444.1	5																																																																																			0	NULL		0.813	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS2	protein_coding	OTTHUMT00000253507.1	8	5	0	0.00	0	0	GCA	NM_014244	0	0		178772262	-1	no_errors	ENST00000251582	ensembl	human	known	74_37	in_frame_del	7	5	22.22	0.00	2	0	DEL	0.960:0.965:0.963	0
CAPNS1	826	genome.wustl.edu	37	19	36632025	36632027	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-4V-A9QX-01A-11D-A423-09	TCGA-4V-A9QX-11A-21D-A426-09	GGC	GGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dcf612cc-682c-4531-9ca6-f96daec3f7f9	a6247991-0f9d-43f6-803b-21382a262aac	g.chr19:36632025_36632027delGGC	ENST00000246533.3	+	2	710_712	c.112_114delGGC	c.(112-114)ggcdel	p.G56del	CAPNS1_ENST00000590874.1_In_Frame_Del_p.G56del|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000587718.1_In_Frame_Del_p.G56del|CAPNS1_ENST00000588780.1_In_Frame_Del_p.G56del|CAPNS1_ENST00000588815.1_In_Frame_Del_p.G56del|CAPNS1_ENST00000589146.1_Intron	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	56	Gly-rich (hydrophobic).|Poly-Gly.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CGGGGCcgggggcggcggcggcg	0.754																																					Esophageal Squamous(129;1541 1691 5780 18353 34150)		0											0									,	2,68		1,0,34					,	-10.1	0.0			1	22,420		9,4,208	no	coding,coding	CAPNS1	NM_001749.2,NM_001003962.1	,	10,4,242	A1A1,A1R,RR		4.9774,2.8571,4.6875	,	,		24,488				SO:0001651	inframe_deletion	0			X04106	CCDS12489.1	19q13.1	2013-01-10		2001-08-10	ENSG00000126247	ENSG00000126247	3.4.22.52	"""EF-hand domain containing"""	1481	protein-coding gene	gene with protein product		114170		CAPN4		3024120, 3016651	Standard	NM_001003962		Approved	CANP, CANPS, 30K, CDPS	uc002odj.3	P04632		ENST00000246533.3:c.112_114delGGC	19.37:g.36632034_36632036delGGC	ENSP00000246533:p.Gly56del		A8K0P1|Q8WTX3|Q96EW0	In_Frame_Del	DEL	pfscan_EF_hand_dom	p.G41in_frame_del	ENST00000246533.3	37	c.112_114	CCDS12489.1	19																																																																																			0	NULL		0.754	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPNS1	protein_coding	OTTHUMT00000457411.2	48	3	0	0.00	0	0	GGC		0	0		36632027	1	no_errors	ENST00000588780	ensembl	human	known	74_37	in_frame_del	30	4	9.09	0.00	3	0	DEL	0.907:0.986:0.987	0
