#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
SLC10A3	8273	genome.wustl.edu	37	X	153716218	153716218	+	Silent	SNP	G	G	A			TCGA-X7-A8D9-01A-11D-A423-09	TCGA-X7-A8D9-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	df95be86-21fc-498e-8f92-9c86e62e0604	469e5064-6682-489c-a883-ed643b0d74d9	g.chrX:153716218G>A	ENST00000393587.4	-	3	1325	c.1062C>T	c.(1060-1062)gtC>gtT	p.V354V	SLC10A3_ENST00000393586.1_Silent_p.V409V|SLC10A3_ENST00000263512.4_Silent_p.V354V|UBL4A_ENST00000369660.4_5'Flank|SLC10A3_ENST00000369649.4_Silent_p.V325V|UBL4A_ENST00000369653.4_5'Flank|UBL4A_ENST00000477777.1_5'Flank	NM_001142391.1|NM_001142392.1	NP_001135863.1|NP_001135864.1	P09131	P3_HUMAN	solute carrier family 10, member 3	354			V -> I (in dbSNP:rs35381503).		response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGGGCTTGACGACCTGCAGCA	0.612																																							0											0													47.0	47.0	47.0					X																	153716218		2203	4299	6502	SO:0001819	synonymous_variant	0			X12458	CCDS14755.1, CCDS48195.1	Xq28	2013-07-18	2013-07-18		ENSG00000126903	ENSG00000126903		"""Solute carriers"""	22979	protein-coding gene	gene with protein product		312090				8733135	Standard	NM_019848		Approved	P3, DXS253E	uc004flq.3	P09131	OTTHUMG00000013369	ENST00000393587.4:c.1062C>T	X.37:g.153716218G>A			Q5HY79|Q9BSL2	Silent	SNP	pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt	p.V354	ENST00000393587.4	37	c.1062	CCDS14755.1	X																																																																																			0	pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt		0.612	SLC10A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A3	protein_coding	OTTHUMT00000037235.3	78	111	0	0.00	0	0	G	NM_019848	0	0		153716218	-1	no_errors	ENST00000263512	ensembl	human	known	74_37	silent	38	81	13.64	12.90	6	12	SNP	0.999	A
ALPP	250	genome.wustl.edu	37	2	233244304	233244304	+	Missense_Mutation	SNP	A	A	G			TCGA-X7-A8D9-01A-11D-A423-09	TCGA-X7-A8D9-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	df95be86-21fc-498e-8f92-9c86e62e0604	469e5064-6682-489c-a883-ed643b0d74d9	g.chr2:233244304A>G	ENST00000392027.2	+	4	660	c.391A>G	c.(391-393)Acc>Gcc	p.T131A	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	131					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CAACTTCCAGACCATTGGCTT	0.567																																							0											0													54.0	48.0	50.0					2																	233244304		2203	4296	6499	SO:0001583	missense	0			M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.391A>G	2.37:g.233244304A>G	ENSP00000375881:p.Thr131Ala		P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase	p.T131A	ENST00000392027.2	37	c.391	CCDS2490.1	2	.	.	.	.	.	.	.	.	.	.	.	10.52	1.373276	0.24857	.	.	ENSG00000163283	ENST00000392027	D	0.95447	-3.71	2.31	1.09	0.20402	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.048937	0.85682	D	0.000000	D	0.93569	0.7947	L	0.41027	1.25	0.39728	D	0.97156	P	0.48589	0.912	P	0.53062	0.717	D	0.91005	0.4845	10	0.72032	D	0.01	.	7.0162	0.24889	0.8809:0.0:0.1191:0.0	.	131	P05187	PPB1_HUMAN	A	131	ENSP00000375881:T131A	ENSP00000375881:T131A	T	+	1	0	ALPP	232952548	0.208000	0.23494	0.028000	0.17463	0.162000	0.22319	3.225000	0.51246	0.147000	0.19030	0.248000	0.18094	ACC	0	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase		0.567	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPP	protein_coding	OTTHUMT00000257032.3	47	54	0	0.00	0	0	A	NM_001632	0	0		233244304	1	no_errors	ENST00000392027	ensembl	human	known	74_37	missense	27	47	18.18	20.34	6	12	SNP	0.711	G
LRIG1	26018	genome.wustl.edu	37	3	66428197	66428197	+	IGR	SNP	G	G	C			TCGA-X7-A8D9-01A-11D-A423-09	TCGA-X7-A8D9-10A-01D-A426-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	df95be86-21fc-498e-8f92-9c86e62e0604	469e5064-6682-489c-a883-ed643b0d74d9	g.chr3:66428197G>C	ENST00000273261.3	-	0	5273				LRIG1_ENST00000496559.2_5'Flank|SLC25A26_ENST00000336733.6_Missense_Mutation_p.S176T|SLC25A26_ENST00000354883.6_Missense_Mutation_p.S264T|SLC25A26_ENST00000536651.1_3'UTR|SLC25A26_ENST00000413054.1_3'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1						innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CGAACGCACAGCTTGCTGTTG	0.522																																							0											0													138.0	136.0	137.0					3																	66428197		2203	4300	6503	SO:0001628	intergenic_variant	0			AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727		3.37:g.66428197G>C			Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.S264T	ENST00000273261.3	37	c.791	CCDS33783.1	3	.	.	.	.	.	.	.	.	.	.	G	4.337	0.061903	0.08339	.	.	ENSG00000144741	ENST00000354883;ENST00000336733	T;T	0.78707	-1.2;-1.2	6.07	4.27	0.50696	.	0.656996	0.17095	N	0.187213	T	0.60650	0.2285	L	0.28115	0.83	0.09310	N	1	B	0.12013	0.005	B	0.12837	0.008	T	0.42344	-0.9457	10	0.12430	T	0.62	-22.9376	6.987	0.24733	0.2086:0.1294:0.662:0.0	.	264	F8WAB8	.	T	264;176	ENSP00000346955:S264T;ENSP00000336801:S176T	ENSP00000336801:S176T	S	+	2	0	SLC25A26	66510887	0.777000	0.28628	0.203000	0.23512	0.012000	0.07955	3.873000	0.56093	1.570000	0.49709	0.655000	0.94253	AGC	0	pfam_Mitochondrial_sb/sol_carrier,pfscan_Mitochondrial_sb/sol_carrier		0.522	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A26	protein_coding	OTTHUMT00000351930.1	48	176	0	0.00	0	0	G	NM_015541	0	0		66428197	1	no_errors	ENST00000354883	ensembl	human	known	74_37	missense	47	121	7.84	6.20	4	8	SNP	0.026	C
ZDHHC11	79844	genome.wustl.edu	37	5	825360	825360	+	Silent	SNP	T	T	C	rs201174878		TCGA-X7-A8D9-01A-11D-A423-09	TCGA-X7-A8D9-10A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	df95be86-21fc-498e-8f92-9c86e62e0604	469e5064-6682-489c-a883-ed643b0d74d9	g.chr5:825360T>C	ENST00000283441.8	-	8	1325	c.942A>G	c.(940-942)aaA>aaG	p.K314K	ZDHHC11_ENST00000424784.2_Silent_p.K314K|ZDHHC11_ENST00000503758.2_5'UTR	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	314						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			AGCTCTTGGCTTTGACTCTGG	0.552																																							0											0													168.0	117.0	134.0					5																	825360		2203	4296	6499	SO:0001819	synonymous_variant	0			AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.942A>G	5.37:g.825360T>C			Q6UWR9	Silent	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.K314	ENST00000283441.8	37	c.942	CCDS3857.1	5																																																																																			0	NULL		0.552	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC11	protein_coding	OTTHUMT00000206681.3	52	101	1.89	1.92	1	2	T	NM_024786	rs201174878	T->C		825360	-1	no_errors	ENST00000283441	ensembl	human	known	74_37	silent	31	108	8.82	5.26	3	6	SNP	0.002	C
CYFIP2	26999	genome.wustl.edu	37	5	156712386	156712386	+	Silent	SNP	C	C	A			TCGA-X7-A8D9-01A-11D-A423-09	TCGA-X7-A8D9-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	df95be86-21fc-498e-8f92-9c86e62e0604	469e5064-6682-489c-a883-ed643b0d74d9	g.chr5:156712386C>A	ENST00000521420.1	+	2	106	c.15C>A	c.(13-15)gtC>gtA	p.V5V	CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000522463.1_Silent_p.V5V|CYFIP2_ENST00000541131.1_Silent_p.V5V|CYFIP2_ENST00000377576.3_Silent_p.V5V|CYFIP2_ENST00000347377.6_Silent_p.V5V|CYFIP2_ENST00000318218.6_Silent_p.V5V					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCACGCACGTCACCCTGGAAG	0.547																																							0											0													40.0	46.0	44.0					5																	156712386		2148	4264	6412	SO:0001819	synonymous_variant	0			AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.15C>A	5.37:g.156712386C>A				Silent	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.V5	ENST00000521420.1	37	c.15		5																																																																																			0	pirsf_Cytoplasmic_FMR1-int_sub		0.547	CYFIP2-001	NOVEL	basic	protein_coding	CYFIP2	protein_coding	OTTHUMT00000373710.1	42	124	0	0.00	0	0	C	NM_001037332	0	0		156712386	1	no_errors	ENST00000318218	ensembl	human	known	74_37	silent	15	80	25	18.37	5	18	SNP	1	A
HOXA1	3198	genome.wustl.edu	37	7	27135319	27135319	+	Silent	SNP	G	G	A	rs2074398		TCGA-X7-A8D9-01A-11D-A423-09	TCGA-X7-A8D9-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	df95be86-21fc-498e-8f92-9c86e62e0604	469e5064-6682-489c-a883-ed643b0d74d9	g.chr7:27135319G>A	ENST00000343060.4	-	1	274	c.213C>T	c.(211-213)caC>caT	p.H71H	HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000495032.1_RNA|HOXA1_ENST00000355633.5_Silent_p.H71H|HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000429611.3_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	71	Poly-His.				abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ggtggcgatggtggtggtggt	0.642											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																											0											0													37.0	40.0	39.0					7																	27135319		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"""Homeoboxes / ANTP class : HOXL subclass"""	5099	protein-coding gene	gene with protein product		142955	"""homeo box A1"""	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.213C>T	7.37:g.27135319G>A		792	A4D184|B2R8U7|O43363	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom	p.H71	ENST00000343060.4	37	c.213	CCDS5401.1	7																																																																																			0	NULL		0.642	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	HOXA1	protein_coding	OTTHUMT00000358454.1	57	54	0	1.82	0	1	G		rs2074398	G->A		27135319	-1	no_errors	ENST00000343060	ensembl	human	known	74_37	silent	43	40	12.24	4.76	6	2	SNP	0.999	A
GTF2I	2969	genome.wustl.edu	37	7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A			TCGA-X7-A8D9-01A-11D-A423-09	TCGA-X7-A8D9-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	df95be86-21fc-498e-8f92-9c86e62e0604	469e5064-6682-489c-a883-ed643b0d74d9	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H|GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|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	253	152	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	260	101	16.61	21.09	52	27	SNP	1	A
PI15	51050	genome.wustl.edu	37	8	75737551	75737551	+	Missense_Mutation	SNP	G	G	A	rs529529830		TCGA-X7-A8D9-01A-11D-A423-09	TCGA-X7-A8D9-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	df95be86-21fc-498e-8f92-9c86e62e0604	469e5064-6682-489c-a883-ed643b0d74d9	g.chr8:75737551G>A	ENST00000260113.2	+	2	246	c.67G>A	c.(67-69)Gtc>Atc	p.V23I	RP11-758M4.4_ENST00000518128.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.V23I|RP11-758M4.4_ENST00000523860.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	23						extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			AAGTACCGTCGTCCTACTCAA	0.483																																							0											0													194.0	187.0	189.0					8																	75737551		2203	4300	6503	SO:0001583	missense	0			D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"""protease inhibitor 15"""			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.67G>A	8.37:g.75737551G>A	ENSP00000260113:p.Val23Ile		Q68CY1	Missense_Mutation	SNP	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	p.V23I	ENST00000260113.2	37	c.67	CCDS6218.1	8	.	.	.	.	.	.	.	.	.	.	G	9.169	1.020750	0.19433	.	.	ENSG00000137558	ENST00000260113;ENST00000523773	T;T	0.08458	3.09;3.09	4.77	-1.42	0.08913	.	0.647515	0.15924	N	0.237965	T	0.05502	0.0145	L	0.40543	1.245	0.29548	N	0.851595	P	0.34587	0.458	B	0.22880	0.042	T	0.27971	-1.0058	10	0.28530	T	0.3	.	10.0616	0.42277	0.4226:0.0:0.5774:0.0	.	23	O43692	PI15_HUMAN	I	23	ENSP00000260113:V23I;ENSP00000428567:V23I	ENSP00000260113:V23I	V	+	1	0	PI15	75900106	0.979000	0.34478	0.129000	0.21949	0.931000	0.56810	1.123000	0.31308	-0.403000	0.07622	-1.020000	0.02445	GTC	0	NULL		0.483	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PI15	protein_coding	OTTHUMT00000379115.1	50	143	0	0.00	0	0	G	NM_015886	0	0		75737551	1	no_errors	ENST00000260113	ensembl	human	known	74_37	missense	34	128	10.53	7.25	4	10	SNP	0.907	A
GRIP1	23426	genome.wustl.edu	37	12	66788085	66788085	+	Missense_Mutation	SNP	G	G	A			TCGA-X7-A8D9-01A-11D-A423-09	TCGA-X7-A8D9-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	df95be86-21fc-498e-8f92-9c86e62e0604	469e5064-6682-489c-a883-ed643b0d74d9	g.chr12:66788085G>A	ENST00000398016.3	-	16	1944	c.1876C>T	c.(1876-1878)Cgc>Tgc	p.R626C	GRIP1_ENST00000542021.1_5'Flank|GRIP1_ENST00000359742.4_Missense_Mutation_p.R678C|GRIP1_ENST00000286445.7_Missense_Mutation_p.R678C	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CCCCCGTAGCGTTTAAGCTCC	0.418																																							0											0													85.0	81.0	82.0					12																	66788085		1815	4076	5891	SO:0001583	missense	0			AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.1876C>T	12.37:g.66788085G>A	ENSP00000381098:p.Arg626Cys		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R678C	ENST00000398016.3	37	c.2032	CCDS41807.1	12	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971893	0.74246	.	.	ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215	T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37	4.2	4.2	0.49525	PDZ/DHR/GLGF (3);	0.155706	0.56097	D	0.000027	T	0.71239	0.3316	H	0.95470	3.675	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.72982	0.921;0.969;0.979;0.979	T	0.81767	-0.0782	9	.	.	.	-15.8081	17.8456	0.88729	0.0:0.0:1.0:0.0	.	626;678;626;678	F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2	.;GRIP1_HUMAN;.;.	C	626;678;678;626;570;518	ENSP00000381098:R626C;ENSP00000352780:R678C;ENSP00000286445:R678C;ENSP00000446047:R626C;ENSP00000446024:R570C;ENSP00000446011:R518C	.	R	-	1	0	GRIP1	65074352	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	5.181000	0.65054	2.644000	0.89710	0.655000	0.94253	CGC	0	pfam_PDZ,superfamily_PDZ,pfscan_PDZ		0.418	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIP1	protein_coding	OTTHUMT00000401975.2	59	232	0	0.00	0	0	G		0	0		66788085	-1	no_errors	ENST00000359742	ensembl	human	known	74_37	missense	53	162	18.46	19.80	12	40	SNP	1	A
TMCO3	55002	genome.wustl.edu	37	13	114203809	114203809	+	Missense_Mutation	SNP	A	A	G	rs142845599		TCGA-X7-A8D9-01A-11D-A423-09	TCGA-X7-A8D9-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	df95be86-21fc-498e-8f92-9c86e62e0604	469e5064-6682-489c-a883-ed643b0d74d9	g.chr13:114203809A>G	ENST00000434316.2	+	13	2349	c.1990A>G	c.(1990-1992)Atc>Gtc	p.I664V	TMCO3_ENST00000375391.1_Intron	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	664						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GAGAGCTGCAATCACGAGGTG	0.602																																							0											0								A	VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	112.0	81.0	92.0		1990	2.5	0.0	13	dbSNP_134	92	0,8600		0,0,4300	no	missense	TMCO3	NM_017905.4	29	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	benign	664/678	114203809	1,13005	2203	4300	6503	SO:0001583	missense	0			BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 11"""	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.1990A>G	13.37:g.114203809A>G	ENSP00000389399:p.Ile664Val		Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Missense_Mutation	SNP	pfam_Cation/H_exchanger	p.I664V	ENST00000434316.2	37	c.1990	CCDS9537.1	13	.	.	.	.	.	.	.	.	.	.	A	10.60	1.396183	0.25205	2.27E-4	0.0	ENSG00000150403	ENST00000434316	T	0.30981	1.51	5.02	2.55	0.30701	.	0.174773	0.49916	N	0.000136	T	0.13243	0.0321	N	0.11560	0.145	0.22034	N	0.999404	B	0.02656	0.0	B	0.09377	0.004	T	0.24621	-1.0155	10	0.21014	T	0.42	-12.1893	5.6938	0.17845	0.6995:0.1418:0.1587:0.0	.	664	Q6UWJ1	TMCO3_HUMAN	V	664	ENSP00000389399:I664V	ENSP00000389399:I664V	I	+	1	0	TMCO3	113251810	0.197000	0.23362	0.002000	0.10522	0.096000	0.18686	2.012000	0.40932	0.261000	0.21753	0.378000	0.23410	ATC	0	NULL		0.602	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO3	protein_coding	OTTHUMT00000045931.3	23	40	0	0.00	0	0	A	NM_017905	rs142845599	A->C,G		114203809	1	no_errors	ENST00000434316	ensembl	human	known	74_37	missense	4	24	60	22.58	6	7	SNP	0.044	G
TBL3	10607	genome.wustl.edu	37	16	2025390	2025390	+	Missense_Mutation	SNP	G	G	C			TCGA-X7-A8D9-01A-11D-A423-09	TCGA-X7-A8D9-10A-01D-A426-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	df95be86-21fc-498e-8f92-9c86e62e0604	469e5064-6682-489c-a883-ed643b0d74d9	g.chr16:2025390G>C	ENST00000568546.1	+	9	884	c.756G>C	c.(754-756)caG>caC	p.Q252H		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	252					G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|intracellular signal transduction (GO:0035556)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						CAGTGTCCCAGCTGGGTGTGA	0.632																																					Melanoma(118;616 1651 35077 38081 48633)		0											0													107.0	111.0	109.0					16																	2025390		2198	4300	6498	SO:0001583	missense	0			U02609	CCDS10453.1	16p13.3	2013-01-10			ENSG00000183751	ENSG00000183751		"""WD repeat domain containing"""	11587	protein-coding gene	gene with protein product		605915				8307582	Standard	NM_006453		Approved	SAZD, UTP13	uc002cnu.1	Q12788	OTTHUMG00000128710	ENST00000568546.1:c.756G>C	16.37:g.2025390G>C	ENSP00000454836:p.Gln252His		Q59GD6|Q8IVB7|Q96A78	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp13,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.Q252H	ENST00000568546.1	37	c.756	CCDS10453.1	16	.	.	.	.	.	.	.	.	.	.	G	7.848	0.723304	0.15439	.	.	ENSG00000183751	ENST00000332704	.	.	.	5.14	-4.1	0.03940	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	2.734510	0.01256	N	0.009013	T	0.26919	0.0659	L	0.29908	0.895	0.09310	N	0.999994	P;P	0.36027	0.533;0.533	B;B	0.36885	0.235;0.235	T	0.34601	-0.9822	9	0.52906	T	0.07	-4.3971	6.7682	0.23579	0.3059:0.2979:0.3962:0.0	.	14;252	A0JLS5;Q12788	.;TBL3_HUMAN	H	252	.	ENSP00000331815:Q252H	Q	+	3	2	TBL3	1965391	0.000000	0.05858	0.105000	0.21289	0.297000	0.27493	-0.674000	0.05233	-0.348000	0.08286	0.655000	0.94253	CAG	0	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.632	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBL3	protein_coding	OTTHUMT00000250615.3	54	82	0	1.20	0	1	G	NM_006453	0	0		2025390	1	no_errors	ENST00000568546	ensembl	human	known	74_37	missense	27	72	10	6.49	3	5	SNP	0.042	C
DNM2	1785	genome.wustl.edu	37	19	10886517	10886517	+	Missense_Mutation	SNP	C	C	T			TCGA-X7-A8D9-01A-11D-A423-09	TCGA-X7-A8D9-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	df95be86-21fc-498e-8f92-9c86e62e0604	469e5064-6682-489c-a883-ed643b0d74d9	g.chr19:10886517C>T	ENST00000355667.6	+	4	604	c.524C>T	c.(523-525)aCg>aTg	p.T175M	DNM2_ENST00000408974.4_Missense_Mutation_p.T175M|DNM2_ENST00000585892.1_Missense_Mutation_p.T175M|DNM2_ENST00000359692.6_Missense_Mutation_p.T175M|DNM2_ENST00000389253.4_Missense_Mutation_p.T175M|DNM2_ENST00000591819.1_3'UTR|DNM2_ENST00000314646.5_Missense_Mutation_p.T175M	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	175	Dynamin-type G.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CTGGCTGTCACGCCCGCCAAC	0.607			"""F, N, Splice, Mis, O"""		ETP ALL																																		0		Rec	yes		19	19p13.2	1785	dynamin 2		L	0													80.0	72.0	75.0					19																	10886517		2203	4300	6503	SO:0001583	missense	0				CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.524C>T	19.37:g.10886517C>T	ENSP00000347890:p.Thr175Met		A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF	p.T175M	ENST00000355667.6	37	c.524	CCDS45968.1	19	.	.	.	.	.	.	.	.	.	.	C	21.1	4.098239	0.76870	.	.	ENSG00000079805	ENST00000389252;ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646	D;D;D;D;D	0.95518	-3.73;-3.73;-3.73;-3.73;-3.73	5.38	5.38	0.77491	Dynamin, GTPase domain (2);	0.000000	0.85682	D	0.000000	D	0.97545	0.9196	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;0.999;1.0	D	0.98212	1.0473	10	0.87932	D	0	.	17.9081	0.88926	0.0:1.0:0.0:0.0	.	175;175;175;175	A8K1B6;P50570-2;P50570;E9PEQ4	.;.;DYN2_HUMAN;.	M	164;175;175;175;175;175	ENSP00000386192:T175M;ENSP00000347890:T175M;ENSP00000352721:T175M;ENSP00000373905:T175M;ENSP00000313164:T175M	ENSP00000313164:T175M	T	+	2	0	DNM2	10747517	0.999000	0.42202	0.983000	0.44433	0.382000	0.30200	7.818000	0.86416	2.530000	0.85305	0.561000	0.74099	ACG	0	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase		0.607	DNM2-001	KNOWN	basic|CCDS	protein_coding	DNM2	protein_coding	OTTHUMT00000452592.1	14	105	0	0.00	0	0	C	NM_004945	0	0		10886517	1	no_errors	ENST00000314646	ensembl	human	known	74_37	missense	8	86	27.27	7.53	3	7	SNP	1	T
LOC101926911	101926911	genome.wustl.edu	37	15	91578959	91578960	+	RNA	INS	-	-	A			TCGA-X7-A8D9-01A-11D-A423-09	TCGA-X7-A8D9-10A-01D-A426-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	df95be86-21fc-498e-8f92-9c86e62e0604	469e5064-6682-489c-a883-ed643b0d74d9	g.chr15:91578959_91578960insA	ENST00000557804.1	+	0	1277_1278																											ctcaaaaaaagaaaaaaaaaaG	0.45																																							0											0																																												0																															15.37:g.91578969_91578969dupA				RNA	INS	0	NULL	ENST00000557804.1	37	NULL		15																																																																																			0	0		0.450	AC068831.10-004	KNOWN	basic	antisense	LOC101926911	antisense	OTTHUMT00000418639.1	10	83	0	0.00	0	0	0		0	0		91578960	1	no_errors	ENST00000557804	ensembl	human	known	74_37	rna	4	47	42.86	4.08	3	2	INS	0.168:0.166	A
INTS4L1	285905	genome.wustl.edu	37	7	64649430	64649430	+	RNA	SNP	C	C	T	rs2671984		TCGA-X7-A8D9-01A-11D-A423-09	TCGA-X7-A8D9-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	df95be86-21fc-498e-8f92-9c86e62e0604	469e5064-6682-489c-a883-ed643b0d74d9	g.chr7:64649430C>T	ENST00000587624.1	+	0	1211							Q96LV5	IN4L1_HUMAN	integrator complex subunit 4-like 1																		TTCGCAGCAGCTCCTGCAGCA	0.512																																							0											0																																												0					7q11.21	2013-03-26			ENSG00000164669	ENSG00000164669			21925	other	unknown							Standard	XR_426205		Approved	FLJ25037		Q96LV5	OTTHUMG00000156510		7.37:g.64649430C>T				RNA	SNP	0	NULL	ENST00000587624.1	37	NULL		7																																																																																			0	0		0.512	INTS4L1-002	KNOWN	non_canonical_conserved|basic	processed_transcript	INTS4L1	pseudogene	OTTHUMT00000460821.1	105	7	0	0.00	0	0	C	XR_041315	rs2671984	C->T		64649430	1	no_errors	ENST00000587624	ensembl	human	known	74_37	rna	50	7	8.93	0.00	5	0	SNP	1	T
GOLGA8EP	390535	genome.wustl.edu	37	15	23441742	23441742	+	RNA	SNP	C	C	G			TCGA-X7-A8D9-01A-11D-A423-09	TCGA-X7-A8D9-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	df95be86-21fc-498e-8f92-9c86e62e0604	469e5064-6682-489c-a883-ed643b0d74d9	g.chr15:23441742C>G	ENST00000526079.1	+	0	1452				RN7SL106P_ENST00000488468.2_RNA	NR_027407.1|NR_033350.1				golgin A8 family, member E, pseudogene																		GCTTCGGGAGCAGGAGGAGAG	0.617																																							0											0																																												0					15q11.2	2014-03-21	2012-10-05	2012-10-05	ENSG00000175676	ENSG00000175676			32377	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8E"", ""golgin A8 family, member E"""	GOLGA8E		12477932	Standard	NR_033350		Approved		uc001yvu.3		OTTHUMG00000167132		15.37:g.23441742C>G				RNA	SNP	0	NULL	ENST00000526079.1	37	NULL		15																																																																																			0	0		0.617	GOLGA8EP-002	KNOWN	basic	processed_transcript	GOLGA8EP	pseudogene	OTTHUMT00000393312.1	14	0	0	0.00	0	0	C	NR_033350.1	0	0		23441742	1	no_errors	ENST00000526079	ensembl	human	known	74_37	rna	14	0	26.32	0.00	5	0	SNP	0.998	G
