#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_NormalRefReads_WU	i_NormalVAF_WU	i_NormalVarReads_WU	i_ORegAnno_bin	i_RNARefReads_WU	i_RNAVAF_WU	i_RNAVarReads_WU	i_Start_position_hg18	i_TumorRefReads_WU	i_TumorVAF_WU	i_TumorVarReads_WU	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
GSTM3	2947	genome.wustl.edu	37	1	110280813	110280813	+	Splice_Site	SNP	C	C	A			TCGA-AB-2995-03A-01D-0739-09	TCGA-AB-2995-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	10a026ec-f343-4b63-b67e-59938e0cffac	ce73c6c8-40ab-4a3c-acd6-c22444da3567	g.chr1:110280813C>A	ENST00000540225.1	-	6	582	c.272G>T	c.(271-273)tGt>tTt	p.C91F	GSTM3_ENST00000256594.3_Splice_Site_p.C91F|GSTM3_ENST00000488824.1_5'UTR|RP4-735C1.4_ENST00000431955.1_RNA|GSTM3_ENST00000361066.2_Splice_Site_p.C91F			P21266	GSTM3_HUMAN	glutathione S-transferase mu 3 (brain)	91	GST N-terminal.				cellular detoxification of nitrogen compound (GO:0070458)|establishment of blood-nerve barrier (GO:0008065)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|nitrobenzene metabolic process (GO:0018916)|response to estrogen (GO:0043627)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)	p.C91F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1)	9		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)|Vitamin E(DB00163)	AGTCTCACCACCTGTAGGCCA	0.488																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	1											200.0	188.0	192.0					1																	110280813		2203	4300	6503	110082336	SO:0001630	splice_region_variant	0			BC000088	CCDS812.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134202	ENSG00000134202	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4635	protein-coding gene	gene with protein product		138390	"""glutathione S-transferase M3 (brain)"""			2345169	Standard	NM_000849		Approved	GST5	uc001dyo.2	P21266	OTTHUMG00000011640	ENST00000540225.1:c.272-1G>T	1.37:g.110280813C>A		324	0.00	0		16	61.90	26	110082336	917	18.40	207	O60550|Q96HA3	Missense_Mutation	SNP	HMMPfam_GST_N,HMMPfam_GST_C,superfamily_Glutathione S-transferase (GST) C-terminal domain,superfamily_Thioredoxin-like	p.C91F	ENST00000540225.1	37	c.272	CCDS812.1	1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156957	0.78114	.	.	ENSG00000134202	ENST00000540225;ENST00000256594;ENST00000361066	T;T;T	0.03580	3.88;3.88;3.88	5.26	5.26	0.73747	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase, N-terminal (1);Thioredoxin-like fold (1);	0.084939	0.85682	D	0.000000	T	0.13243	0.0321	M	0.76938	2.355	0.80722	D	1	B;D;B	0.63880	0.213;0.993;0.213	B;D;B	0.71870	0.061;0.975;0.061	T	0.00316	-1.1823	10	0.87932	D	0	.	17.7962	0.88572	0.0:1.0:0.0:0.0	.	91;97;91	Q6FGJ9;Q59EJ5;P21266	.;.;GSTM3_HUMAN	F	91	ENSP00000444978:C91F;ENSP00000256594:C91F;ENSP00000354357:C91F	ENSP00000256594:C91F	C	-	2	0	GSTM3	110082336	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.611000	0.61162	2.722000	0.93159	0.563000	0.77884	TGT	-	superfamily_Glutathione S-transferase (GST) C-terminal domain		0.488	GSTM3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTM3	protein_coding	OTTHUMT00000032182.1	C	NM_000849	Missense_Mutation	110082336	-1	no_errors	NM_000849.4	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
DDX41	51428	genome.wustl.edu	37	5	176939370	176939370	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2995-03A-01D-0739-09	TCGA-AB-2995-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	10a026ec-f343-4b63-b67e-59938e0cffac	ce73c6c8-40ab-4a3c-acd6-c22444da3567	g.chr5:176939370C>T	ENST00000507955.1	-	15	2097	c.1574G>A	c.(1573-1575)cGc>cAc	p.R525H	DOK3_ENST00000501403.2_5'Flank|DOK3_ENST00000377112.4_5'Flank|DOK3_ENST00000357198.4_5'Flank|DDX41_ENST00000506965.1_5'Flank|DOK3_ENST00000312943.6_5'Flank	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	525	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R525H(1)				all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GTTTCCCGAGCGCCCGGTGCG	0.612																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	5											92.0	86.0	88.0					5																	176939370		2203	4300	6503	176871976	SO:0001583	missense	0			AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"""DEAD-boxes"""	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.1574G>A	5.37:g.176939370C>T	ENSP00000422753:p.Arg525His	94	0.00	0		77	38.40	48	176871976	222	21.48	61	B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Missense_Mutation	SNP	HMMPfam_Helicase_C,HMMSmart_SM00490,HMMPfam_zf-CCHC,HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.R525H	ENST00000507955.1	37	c.1574	CCDS4427.1	5	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093245	0.76756	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	D;D	0.94758	-3.51;-3.51	5.99	5.99	0.97316	Helicase, C-terminal (3);	0.055164	0.64402	D	0.000001	D	0.98704	0.9565	H	0.98849	4.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99019	1.0817	10	0.87932	D	0	-18.2127	20.4753	0.99175	0.0:1.0:0.0:0.0	.	525	Q9UJV9	DDX41_HUMAN	H	543;525	ENSP00000330349:R543H;ENSP00000422753:R525H	ENSP00000330349:R543H	R	-	2	0	DDX41	176871976	1.000000	0.71417	1.000000	0.80357	0.002000	0.02628	7.727000	0.84838	2.844000	0.97970	0.650000	0.86243	CGC	-	HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.612	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX41	protein_coding	OTTHUMT00000253432.2	C	NM_016222		176871976	-1	no_errors	NM_016222.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
ZNF37A	7587	genome.wustl.edu	37	10	38406446	38406446	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2995-03A-01D-0739-09	TCGA-AB-2995-11A-01D-0739-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	10a026ec-f343-4b63-b67e-59938e0cffac	ce73c6c8-40ab-4a3c-acd6-c22444da3567	g.chr10:38406446A>G	ENST00000361085.5	+	7	712	c.367A>G	c.(367-369)Aat>Gat	p.N123D	ZNF37A_ENST00000351773.3_Missense_Mutation_p.N123D	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	123					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N123D(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						ATATAATAAAAATGGGAACAG	0.328																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	10											72.0	85.0	80.0					10																	38406446		2201	4297	6498	38446452	SO:0001583	missense	0			X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"""Zinc fingers, C2H2-type"", ""-"""	13102	protein-coding gene	gene with protein product			"""zinc finger protein 37a (KOX 21)"""			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.367A>G	10.37:g.38406446A>G	ENSP00000354377:p.Asn123Asp	135	0.00	0		8	50.00	8	38446452	536	22.48	156	B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.N123D	ENST00000361085.5	37	c.367	CCDS31183.1	10	.	.	.	.	.	.	.	.	.	.	A	4.072	0.011124	0.07912	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.07444	3.19;3.19	2.62	1.36	0.22044	.	.	.	.	.	T	0.07188	0.0182	L	0.39147	1.195	0.09310	N	1	P	0.49185	0.92	B	0.41036	0.346	T	0.30208	-0.9986	9	0.59425	D	0.04	.	5.1888	0.15199	0.5167:0.0:0.0:0.4833	.	123	P17032	ZN37A_HUMAN	D	123	ENSP00000329141:N123D;ENSP00000354377:N123D	ENSP00000329141:N123D	N	+	1	0	ZNF37A	38446452	0.071000	0.21146	0.477000	0.27303	0.214000	0.24535	0.366000	0.20365	0.203000	0.20529	0.482000	0.46254	AAT	-	NULL		0.328	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF37A	protein_coding	OTTHUMT00000047624.2	A	NM_003421		38446452	+1	no_errors	NM_001007094.1	genbank	human	validated	54_36p	missense	SNP	0.808	G
KCNH5	27133	genome.wustl.edu	37	14	63447847	63447847	+	Missense_Mutation	SNP	C	C	T	rs200308580		TCGA-AB-2995-03A-01D-0739-09	TCGA-AB-2995-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	10a026ec-f343-4b63-b67e-59938e0cffac	ce73c6c8-40ab-4a3c-acd6-c22444da3567	g.chr14:63447847C>T	ENST00000322893.7	-	6	953	c.685G>A	c.(685-687)Gcc>Acc	p.A229T	KCNH5_ENST00000394964.2_Missense_Mutation_p.A171T|KCNH5_ENST00000394968.1_Missense_Mutation_p.A171T|KCNH5_ENST00000420622.2_Missense_Mutation_p.A229T	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	229					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.A229T(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACCATAATGGCGGTGTAGAAG	0.383													C|||	1	0.000199681	0.0	0.0	5008	,	,		20121	0.001		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	14											76.0	76.0	76.0					14																	63447847		2203	4300	6503	62517600	SO:0001583	missense	0			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.685G>A	14.37:g.63447847C>T	ENSP00000321427:p.Ala229Thr	217	0.00	0		NA	NA	NA	62517600	1499	22.66	443	C9JP98	Missense_Mutation	SNP	HMMPfam_cNMP_binding,HMMSmart_SM00100,HMMSmart_SM00086,HMMPfam_Ion_trans,HMMPfam_PAS,superfamily_cAMP-binding domain-like,superfamily_PYP-like sensor domain (PAS domain),superfamily_Voltage-gated potassium channels	p.A229T	ENST00000322893.7	37	c.685	CCDS9756.1	14	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	33	5.228534	0.95173	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	D;D;D;D	0.97529	-4.42;-4.42;-4.42;-4.42	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.98598	0.9531	M	0.86178	2.8	0.80722	D	1	D;D;D;D	0.89917	0.998;0.999;0.999;1.0	P;D;D;D	0.87578	0.691;0.923;0.923;0.998	D	0.99445	1.0939	10	0.66056	D	0.02	.	19.2302	0.93834	0.0:1.0:0.0:0.0	.	171;171;229;229	Q86XI1;Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;.;KCNH5_HUMAN	T	229;229;171;171	ENSP00000321427:A229T;ENSP00000395439:A229T;ENSP00000378419:A171T;ENSP00000378415:A171T	ENSP00000321427:A229T	A	-	1	0	KCNH5	62517600	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.764000	0.85297	2.547000	0.85894	0.585000	0.79938	GCC	-	superfamily_Voltage-gated potassium channels		0.383	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH5	protein_coding	OTTHUMT00000411747.1	C	NM_139318		62517600	-1	no_errors	NM_139318.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
DNAH9	1770	genome.wustl.edu	37	17	11572785	11572785	+	Silent	SNP	C	C	T			TCGA-AB-2995-03A-01D-0739-09	TCGA-AB-2995-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	10a026ec-f343-4b63-b67e-59938e0cffac	ce73c6c8-40ab-4a3c-acd6-c22444da3567	g.chr17:11572785C>T	ENST00000262442.4	+	17	3095	c.3027C>T	c.(3025-3027)acC>acT	p.T1009T	DNAH9_ENST00000454412.2_Silent_p.T1009T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1009	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.T1009T(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATCAGAGCACCTTCAGCCAGT	0.537																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	17											89.0	83.0	85.0					17																	11572785		2203	4300	6503	11513510	SO:0001819	synonymous_variant	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.3027C>T	17.37:g.11572785C>T		314	0.00	0		NA	NA	NA	11513510	1210	21.10	325	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	HMMSmart_SM00382,HMMPfam_Dynein_heavy,PatternScan_CPSASE_2,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_Spectrin repeat,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.T1009	ENST00000262442.4	37	c.3027	CCDS11160.1	17																																																																																			-	NULL		0.537	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	protein_coding	OTTHUMT00000252756.2	C	NM_001372		11513510	+1	no_errors	NM_001372.3	genbank	human	reviewed	54_36p	silent	SNP	0.907	T
MYLK2	85366	genome.wustl.edu	37	20	30418877	30418877	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2995-03A-01D-0739-09	TCGA-AB-2995-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	10a026ec-f343-4b63-b67e-59938e0cffac	ce73c6c8-40ab-4a3c-acd6-c22444da3567	g.chr20:30418877G>T	ENST00000375994.2	+	9	1630	c.1357G>T	c.(1357-1359)Gtg>Ttg	p.V453L	MYLK2_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Missense_Mutation_p.V453L			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	453	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)	p.V453L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GTCACCTGAGGTGGTGAATTA	0.542																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	20											108.0	98.0	101.0					20																	30418877		2203	4300	6503	29882538	SO:0001583	missense	0			AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"""skeletal muscle myosin light chain kinase"""	606566	"""myosin light chain kinase 2, skeletal muscle"""				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.1357G>T	20.37:g.30418877G>T	ENSP00000365162:p.Val453Leu	226	0.00	0		NA	NA	NA	29882538	511	17.29	107	Q569L1|Q96I84	Missense_Mutation	SNP	HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase	p.V453L	ENST00000375994.2	37	c.1357	CCDS13191.1	20	.	.	.	.	.	.	.	.	.	.	G	23.3	4.399175	0.83120	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.68479	-0.33;-0.33	3.96	3.96	0.45880	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.76414	0.3984	L	0.51422	1.61	0.53005	D	0.999961	D	0.67145	0.996	D	0.70227	0.968	T	0.79685	-0.1700	9	0.87932	D	0	.	15.0963	0.72238	0.0:0.0:1.0:0.0	.	453	Q9H1R3	MYLK2_HUMAN	L	453	ENSP00000365162:V453L;ENSP00000365152:V453L	ENSP00000365152:V453L	V	+	1	0	MYLK2	29882538	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	6.374000	0.73132	2.172000	0.68678	0.561000	0.74099	GTG	-	HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase		0.542	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYLK2	protein_coding	OTTHUMT00000078583.2	G	NM_033118		29882538	+1	no_errors	NM_033118.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
LOC646513	646513	genome.wustl.edu	37	22	30831774	30831774	+	lincRNA	SNP	C	C	T			TCGA-AB-2995-03A-01D-0739-09	TCGA-AB-2995-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	10a026ec-f343-4b63-b67e-59938e0cffac	ce73c6c8-40ab-4a3c-acd6-c22444da3567	g.chr22:30831774C>T	ENST00000607893.1	+	0	244																											tggtgtatctcctgcccctgc	0.627																																						dbGAP											0			22																																								29161774			0																															22.37:g.30831774C>T		545	0.00	0		1	66.67	2	29161774	722	16.99	148		Silent	SNP	NULL	p.L48	ENST00000607893.1	37	c.144		22																																																																																			-	NULL		0.627	RP4-539M6.22-001	KNOWN	basic	lincRNA	LOC646513	lincRNA	OTTHUMT00000472412.1	C			29161774	+1	no_errors	XM_001132717.1	genbank	human	model	54_36p	silent	SNP	0.056	T
