#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_NormalRefReads_WU	i_NormalVAF_WU	i_NormalVarReads_WU	i_ORegAnno_bin	i_RNARefReads_WU	i_RNAVAF_WU	i_RNAVarReads_WU	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Start_position_hg18	i_TumorRefReads_WU	i_TumorVAF_WU	i_TumorVarReads_WU	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	T	T	C			TCGA-AB-2931-03A-01W-0745-08	TCGA-AB-2931-11A-01W-0745-08	T	T	T	C	T	T	Verified	Invalid:failed_liftOver	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	87ebd9e4-74d3-4314-85ea-86e6feacd628	af114bb0-997c-4288-ad46-547239566692	g.chrUnknown:0T>C								None (None upstream) : None (None downstream)																								0.0																																						dbGAP											0			MT																																								913	SO:0001628	intergenic_variant	0																															Unknown.37:g.0T>C		Somatic	1758	7.66	146		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	913	37	94.47	632		RNA	SNP	-	NULL		37	NULL		MT																																																																																			-	-	0	0					ENSG00000211459			T			913	+1	no_errors	ENST00000389680	ensembl	human	novel	54_36p	rna	SNP	NULL	C
HSPB7	27129	genome.wustl.edu	37	1	16342130	16342130	+	Missense_Mutation	SNP	C	C	T	rs373135452		TCGA-AB-2931-03A-01W-0745-08	TCGA-AB-2931-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	87ebd9e4-74d3-4314-85ea-86e6feacd628	af114bb0-997c-4288-ad46-547239566692	g.chr1:16342130C>T	ENST00000311890.9	-	3	1284	c.458G>A	c.(457-459)cGt>cAt	p.R153H	HSPB7_ENST00000406363.2_Missense_Mutation_p.R157H|HSPB7_ENST00000411503.1_Missense_Mutation_p.R148H|HSPB7_ENST00000375718.4_Missense_Mutation_p.R228H|HSPB7_ENST00000487046.1_Missense_Mutation_p.R158H	NM_014424.4	NP_055239.1	Q9UBY9	HSPB7_HUMAN	heat shock 27kDa protein family, member 7 (cardiovascular)	153					regulation of heart contraction (GO:0008016)|response to unfolded protein (GO:0006986)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		ATGCGGGTGACGCCGTGCCCG	0.652																																						dbGAP											0			1						C	HIS/ARG	0,4406		0,0,2203	109.0	87.0	94.0		458	5.0	0.4	1		94	1,8599	1.2+/-3.3	0,1,4299	no	missense	HSPB7	NM_014424.4	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	153/171	16342130	1,13005	2203	4300	6503	16214717	SO:0001583	missense	0			AF155908	CCDS30611.1	1p36.23-p34.3	2011-09-02	2002-08-29		ENSG00000173641	ENSG00000173641		"""Heat shock proteins / HSPB"""	5249	protein-coding gene	gene with protein product		610692	"""heat shock 27kD protein family, member 7 (cardiovascular)"""			10593960	Standard	NM_014424		Approved	cvHSP	uc001axo.2	Q9UBY9	OTTHUMG00000009531	ENST00000311890.9:c.458G>A	1.37:g.16342130C>T	ENSP00000310111:p.Arg153His	Somatic	124	3.12	4		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	16214717	20	62.96	34	B3KQ37|C9K0Y0|Q9NU17	Missense_Mutation	SNP	HMMPfam_HSP20,superfamily_HSP20-like chaperones	p.R153H	ENST00000311890.9	37	c.458	CCDS30611.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.071476	0.93950	0.0	1.16E-4	ENSG00000173641	ENST00000411503;ENST00000311890;ENST00000375718;ENST00000375714;ENST00000463576;ENST00000487046;ENST00000406363	D;D;D;D;D;D	0.92249	-3.0;-3.0;-3.0;-3.0;-3.0;-3.0	4.97	4.97	0.65823	Heat shock protein Hsp20 (2);HSP20-like chaperone (1);	0.000000	0.64402	D	0.000001	D	0.96685	0.8918	M	0.91038	3.17	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.79108	0.989;0.992;0.988;0.991;0.984	D	0.97527	1.0077	10	0.87932	D	0	-14.849	14.9547	0.71104	0.0:1.0:0.0:0.0	.	228;174;174;241;153	Q8N241;Q7Z3C1;Q5T5Q1;Q5T5Q2;Q9UBY9	.;.;.;.;HSPB7_HUMAN	H	148;153;228;246;107;158;157	ENSP00000391578:R148H;ENSP00000310111:R153H;ENSP00000364870:R228H;ENSP00000417966:R107H;ENSP00000419477:R158H;ENSP00000385472:R157H	ENSP00000310111:R153H	R	-	2	0	HSPB7	16214717	0.997000	0.39634	0.370000	0.25965	0.847000	0.48162	5.640000	0.67875	2.296000	0.77279	0.561000	0.74099	CGT	-	HMMPfam_HSP20,superfamily_HSP20-like chaperones		0.652	HSPB7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HSPB7	protein_coding	OTTHUMT00000026334.2	C	NM_014424		16214717	-1	no_errors	NM_014424.4	genbank	human	validated	54_36p	missense	SNP	0.906	T
DNMT3A	1788	genome.wustl.edu	37	2	25457243	25457243	+	Missense_Mutation	SNP	G	G	A	rs377577594		TCGA-AB-2931-03A-01W-0745-08	TCGA-AB-2931-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	87ebd9e4-74d3-4314-85ea-86e6feacd628	af114bb0-997c-4288-ad46-547239566692	g.chr2:25457243G>A	ENST00000264709.3	-	23	2981	c.2644C>T	c.(2644-2646)Cgc>Tgc	p.R882C	DNMT3A_ENST00000402667.1_Missense_Mutation_p.R659C|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R882C|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R693C|DNMT3A_ENST00000474887.1_5'Flank	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	882	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.		R -> C (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> H (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> P (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.		C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.R882C(93)|p.R882S(8)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCGCCAAGCGGCTCATGTTG	0.597			"""Mis, F, N, S"""		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	101	Substitution - Missense(101)	haematopoietic_and_lymphoid_tissue(101)	2						G	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	55.0	50.0	52.0		2644,2077,2644	5.7	1.0	2		52	4,8596		0,4,4296	no	missense,missense,missense	DNMT3A	NM_022552.3,NM_153759.2,NM_175629.1	180,180,180	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging,probably-damaging,probably-damaging	882/913,693/724,882/913	25457243	4,13002	2203	4300	6503	25310747	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2644C>T	2.37:g.25457243G>A	ENSP00000264709:p.Arg882Cys	Somatic	106	3.64	4		41	54.95	50	WXS	Illumina HiSeq	Phase_IV	25310747	23	46.51	20	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.R882C	ENST00000264709.3	37	c.2644	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224411	0.79576	0.0	4.65E-4	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.98538	0.9512	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.65573	0.936;0.685	D	0.99425	1.0934	10	0.87932	D	0	-8.768	18.4404	0.90665	0.0:0.0:1.0:0.0	.	882;693	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	C	693;882;882;659	ENSP00000370122:R693C;ENSP00000324375:R882C;ENSP00000264709:R882C;ENSP00000384237:R659C	ENSP00000264709:R882C	R	-	1	0	DNMT3A	25310747	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	2.698000	0.92095	0.561000	0.74099	CGC	-	superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.597	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	G	NM_022552		25310747	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
ACTBL2	345651	genome.wustl.edu	37	5	56777739	56777739	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2931-03A-01W-0745-08	TCGA-AB-2931-11A-01W-0745-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	87ebd9e4-74d3-4314-85ea-86e6feacd628	af114bb0-997c-4288-ad46-547239566692	g.chr5:56777739A>G	ENST00000423391.1	-	1	897	c.796T>C	c.(796-798)Tcc>Ccc	p.S266P	CTD-2023N9.1_ENST00000506106.1_RNA|AC025470.1_ENST00000584598.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	266						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		CCCAGAAAGGAAGGCTGGAAA	0.512																																						dbGAP											0			5											91.0	85.0	87.0					5																	56777739		2203	4300	6503	56813496	SO:0001583	missense	0				CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.796T>C	5.37:g.56777739A>G	ENSP00000416706:p.Ser266Pro	Somatic	150	1.96	3		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	56813496	65	49.22	63	B2RPJ1|Q562R2|Q562S9|Q562X8	Missense_Mutation	SNP	HMMPfam_Actin,HMMSmart_SM00268,PatternScan_ACTINS_ACT_LIKE,PatternScan_ACTINS_1,PatternScan_ACTINS_2,superfamily_Actin-like ATPase domain	p.S266P	ENST00000423391.1	37	c.796	CCDS34163.1	5	.	.	.	.	.	.	.	.	.	.	A	11.33	1.605822	0.28623	.	.	ENSG00000169067	ENST00000423391	T	0.10192	2.9	4.91	4.91	0.64330	.	0.000000	0.64402	D	0.000007	T	0.42426	0.1202	H	0.95151	3.63	0.53005	D	0.999965	P	0.39759	0.687	P	0.57371	0.819	T	0.51896	-0.8647	10	0.87932	D	0	.	12.5346	0.56135	1.0:0.0:0.0:0.0	.	266	Q562R1	ACTBL_HUMAN	P	266	ENSP00000416706:S266P	ENSP00000416706:S266P	S	-	1	0	ACTBL2	56813496	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.279000	0.78599	2.057000	0.61298	0.533000	0.62120	TCC	-	HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain		0.512	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTBL2	protein_coding	OTTHUMT00000368579.1	A	NM_001017992		56813496	-1	no_errors	NM_001017992.2	genbank	human	validated	54_36p	missense	SNP	1.000	G
SYNE1	23345	genome.wustl.edu	37	6	152738068	152738068	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2931-03A-01W-0745-08	TCGA-AB-2931-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	87ebd9e4-74d3-4314-85ea-86e6feacd628	af114bb0-997c-4288-ad46-547239566692	g.chr6:152738068C>T	ENST00000367255.5	-	41	6105	c.5504G>A	c.(5503-5505)cGt>cAt	p.R1835H	SYNE1_ENST00000265368.4_Missense_Mutation_p.R1835H|SYNE1_ENST00000423061.1_Missense_Mutation_p.R1842H|SYNE1_ENST00000448038.1_Missense_Mutation_p.R1842H|SYNE1_ENST00000341594.5_Missense_Mutation_p.R1872H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1835					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTCCTCAGCACGGCCCAGAGA	0.587										HNSCC(10;0.0054)																												dbGAP											0			6											104.0	104.0	104.0					6																	152738068		2203	4300	6503	152779761	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.5504G>A	6.37:g.152738068C>T	ENSP00000356224:p.Arg1835His	Somatic	303	2.88	9		1	0.00	0	WXS	Illumina HiSeq	Phase_IV	152779761	119	49.15	115	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_SM00033,HMMPfam_Spectrin,HMMPfam_KASH,superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00150,superfamily_Spectrin repeat	p.R1835H	ENST00000367255.5	37	c.5504	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	11.50	1.658074	0.29425	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36	6.16	3.42	0.39159	.	0.403903	0.21599	N	0.071977	T	0.14960	0.0361	L	0.44542	1.39	0.24767	N	0.992892	B;P;P;P	0.41710	0.004;0.76;0.76;0.715	B;B;B;B	0.38616	0.003;0.124;0.124;0.277	T	0.02668	-1.1126	10	0.49607	T	0.09	.	11.5688	0.50822	0.0:0.8068:0.0:0.1932	.	1818;1835;1835;1842	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	H	1835;1842;1835;1842;1872	ENSP00000356224:R1835H;ENSP00000396024:R1842H;ENSP00000265368:R1835H;ENSP00000390975:R1842H;ENSP00000341887:R1872H	ENSP00000265368:R1835H	R	-	2	0	SYNE1	152779761	0.000000	0.05858	0.030000	0.17652	0.857000	0.48899	0.098000	0.15189	0.469000	0.27268	0.650000	0.86243	CGT	-	superfamily_Spectrin repeat		0.587	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	protein_coding	OTTHUMT00000334755.2	C	NM_182961		152779761	-1	no_errors	NM_182961.2	genbank	human	reviewed	54_36p	missense	SNP	0.024	T
NRCAM	4897	genome.wustl.edu	37	7	107831727	107831727	+	Splice_Site	SNP	G	G	A			TCGA-AB-2931-03A-01W-0745-08	TCGA-AB-2931-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	87ebd9e4-74d3-4314-85ea-86e6feacd628	af114bb0-997c-4288-ad46-547239566692	g.chr7:107831727G>A	ENST00000425651.2	-	16	1903	c.1904C>T	c.(1903-1905)gCt>gTt	p.A635V	NRCAM_ENST00000379028.3_Splice_Site_p.A635V|NRCAM_ENST00000379024.4_Splice_Site_p.A616V|NRCAM_ENST00000379022.4_Splice_Site_p.A635V|NRCAM_ENST00000351718.4_Intron|NRCAM_ENST00000413765.2_Splice_Site_p.A616V	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	635					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TGGAGTAGGAGCTAGAAAGGA	0.323																																						dbGAP											0			7											56.0	58.0	58.0					7																	107831727		1822	4078	5900	107618963	SO:0001630	splice_region_variant	0				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.1904-1C>T	7.37:g.107831727G>A		Somatic	63	3.08	2		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	107618963	53	36.90	31	A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	PatternScan_IG_MHC,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin	p.A635V	ENST00000425651.2	37	c.1904	CCDS47686.1	7	.	.	.	.	.	.	.	.	.	.	G	17.36	3.369031	0.61624	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000379024;ENST00000425651;ENST00000379022	T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05	5.87	5.87	0.94306	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.217705	0.40222	N	0.001156	T	0.69726	0.3143	L	0.28274	0.84	0.44469	D	0.997405	B;B;B;B	0.17038	0.017;0.02;0.003;0.003	B;B;B;B	0.25405	0.06;0.028;0.011;0.007	T	0.65932	-0.6048	10	0.72032	D	0.01	.	15.3178	0.74095	0.0:0.0:0.8602:0.1398	.	635;616;616;635	Q92823-5;Q92823-3;E9PDA4;Q92823	.;.;.;NRCAM_HUMAN	V	635;635;616;635;616;635;635	ENSP00000368314:A635V;ENSP00000407858:A616V;ENSP00000368310:A616V;ENSP00000401244:A635V;ENSP00000368308:A635V	ENSP00000368308:A635V	A	-	2	0	NRCAM	107618963	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.320000	0.43797	2.941000	0.99782	0.655000	0.94253	GCT	-	superfamily_Immunoglobulin		0.323	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NRCAM	protein_coding	OTTHUMT00000337942.2	G	NM_001037132	Missense_Mutation	107618963	-1	no_errors	NM_001037132.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
GSTK1	373156	genome.wustl.edu	37	7	142960620	142960620	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2931-03A-01W-0745-08	TCGA-AB-2931-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	87ebd9e4-74d3-4314-85ea-86e6feacd628	af114bb0-997c-4288-ad46-547239566692	g.chr7:142960620C>T	ENST00000358406.5	+	1	85	c.14C>T	c.(13-15)cCg>cTg	p.P5L	GSTK1_ENST00000494735.1_3'UTR|GSTK1_ENST00000443571.2_Missense_Mutation_p.P5L|GSTK1_ENST00000479303.1_Missense_Mutation_p.P5L|AC073342.12_ENST00000427392.1_RNA|GSTK1_ENST00000409500.3_Missense_Mutation_p.P5L	NM_015917.2	NP_057001.1	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1	5					epithelial cell differentiation (GO:0030855)|glutathione metabolic process (GO:0006749)|oxidation-reduction process (GO:0055114)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|peroxisome (GO:0005777)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|protein disulfide oxidoreductase activity (GO:0015035)|receptor binding (GO:0005102)	p.P5Q(2)		lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	GGGCCCCTGCCGCGCACCGTG	0.677																																						dbGAP											2	Substitution - Missense(2)	lung(2)	7											50.0	54.0	53.0					7																	142960620		2203	4300	6503	142670742	SO:0001583	missense	0				CCDS5877.1, CCDS47730.1, CCDS47731.1, CCDS47732.1	7q34	2012-06-21			ENSG00000197448	ENSG00000197448	2.5.1.18	"""Glutathione S-transferases / Mitochondrial (kappa)"""	16906	protein-coding gene	gene with protein product		602321				12720545, 14742434	Standard	NM_015917		Approved	GST13	uc003wcj.3	Q9Y2Q3	OTTHUMG00000152637	ENST00000358406.5:c.14C>T	7.37:g.142960620C>T	ENSP00000351181:p.Pro5Leu	Somatic	69	0.00	0		115	50.21	117	WXS	Illumina HiSeq	Phase_IV	142670742	30	58.90	43	B4DIH1|B4DSY2|Q6P4H0|Q7Z520|Q9P1S4	Missense_Mutation	SNP	HMMPfam_DSBA,superfamily_Thioredoxin-like	p.P5L	ENST00000358406.5	37	c.14	CCDS5877.1	7	.	.	.	.	.	.	.	.	.	.	C	15.55	2.865764	0.51588	.	.	ENSG00000197448	ENST00000409500;ENST00000443571;ENST00000358406;ENST00000479303	.	.	.	5.49	4.62	0.57501	Thioredoxin-like fold (1);	0.281782	0.36628	N	0.002492	T	0.41119	0.1145	L	0.58669	1.825	0.27073	N	0.963267	B;B;B;B	0.31040	0.218;0.07;0.305;0.001	B;B;B;B	0.21546	0.035;0.016;0.033;0.001	T	0.35525	-0.9785	9	0.40728	T	0.16	-15.7146	11.14	0.48398	0.0:0.9135:0.0:0.0865	.	5;5;5;5	Q9Y2Q3-3;Q9Y2Q3-4;Q9Y2Q3-2;Q9Y2Q3	.;.;.;GSTK1_HUMAN	L	5	.	ENSP00000351181:P5L	P	+	2	0	GSTK1	142670742	0.813000	0.29090	0.341000	0.25589	0.208000	0.24298	1.444000	0.35068	1.302000	0.44855	-0.306000	0.09157	CCG	-	superfamily_Thioredoxin-like		0.677	GSTK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTK1	protein_coding	OTTHUMT00000327091.1	C	NM_015917		142670742	+1	no_errors	NM_015917.1	genbank	human	reviewed	54_36p	missense	SNP	0.419	T
COL22A1	169044	genome.wustl.edu	37	8	139697551	139697551	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2931-03A-01W-0745-08	TCGA-AB-2931-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	87ebd9e4-74d3-4314-85ea-86e6feacd628	af114bb0-997c-4288-ad46-547239566692	g.chr8:139697551G>A	ENST00000303045.6	-	38	3313	c.2867C>T	c.(2866-2868)gCa>gTa	p.A956V	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.A956V	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	956	Collagen-like 8.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTCCCCCGCTGCACCCTGGAA	0.582										HNSCC(7;0.00092)																												dbGAP											0			8											28.0	29.0	29.0					8																	139697551		2203	4300	6503	139766733	SO:0001583	missense	0			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2867C>T	8.37:g.139697551G>A	ENSP00000303153:p.Ala956Val	Somatic	48	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	139766733	29	12.12	4	B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	HMMPfam_VWA,HMMSmart_SM00327,HMMSmart_SM00210,HMMPfam_Collagen,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like	p.A956V	ENST00000303045.6	37	c.2867	CCDS6376.1	8	.	.	.	.	.	.	.	.	.	.	G	5.890	0.348353	0.11126	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.93488	-3.23;-3.23	4.77	3.82	0.43975	.	0.774115	0.10891	U	0.622720	D	0.88731	0.6516	L	0.37697	1.125	0.09310	N	1	B;B	0.23650	0.03;0.089	B;B	0.25614	0.037;0.062	T	0.77768	-0.2464	10	0.29301	T	0.29	.	9.2702	0.37666	0.0:0.0:0.7691:0.2309	.	956;956	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	V	956;956;669	ENSP00000303153:A956V;ENSP00000387655:A956V	ENSP00000303153:A956V	A	-	2	0	COL22A1	139766733	0.001000	0.12720	0.040000	0.18447	0.001000	0.01503	0.838000	0.27572	2.481000	0.83766	0.448000	0.29417	GCA	-	HMMPfam_Collagen		0.582	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	protein_coding	OTTHUMT00000315905.2	G	XM_291257		139766733	-1	no_errors	NM_152888.1	genbank	human	validated	54_36p	missense	SNP	0.108	A
C3	718	genome.wustl.edu	37	19	6707203	6707203	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2931-03A-01W-0745-08	TCGA-AB-2931-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	87ebd9e4-74d3-4314-85ea-86e6feacd628	af114bb0-997c-4288-ad46-547239566692	g.chr19:6707203C>T	ENST00000245907.6	-	17	2221	c.2129G>A	c.(2128-2130)cGg>cAg	p.R710Q		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	710	Anaphylatoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00022}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	GAAACGGGTCCGGCGCTGGCA	0.657																																						dbGAP											0			19											41.0	38.0	39.0					19																	6707203		2201	4295	6496	6658203	SO:0001583	missense	0			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2129G>A	19.37:g.6707203C>T	ENSP00000245907:p.Arg710Gln	Somatic	88	2.22	2		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	6658203	21	47.50	19	A7E236	Missense_Mutation	SNP	HMMPfam_ANATO,HMMSmart_SM00104,PatternScan_ANAPHYLATOXIN_1,HMMPfam_A2M,HMMPfam_A2M_N,superfamily_Terpenoid cyclases/Protein prenyltransferases,superfamily_TIMP-like,HMMPfam_A2M_recep,superfamily_Alpha-macroglobulin receptor domain,HMMPfam_A2M_N_2,HMMPfam_A2M_comp,superfamily_Anaphylotoxins (complement system),HMMPfam_NTR,HMMSmart_SM00643,HMMPfam_Thiol-ester_cl,PatternScan_ALPHA_2_MACROGLOBULIN	p.R710Q	ENST00000245907.6	37	c.2129	CCDS32883.1	19	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864649	0.91511	.	.	ENSG00000125730	ENST00000245907	T	0.39229	1.09	4.85	4.85	0.62838	Complement C3a/C4a/C5a anaphylatoxin (1);Anaphylatoxin (2);Anaphylatoxin/fibulin (4);	0.000000	0.85682	D	0.000000	T	0.73442	0.3587	M	0.94063	3.49	0.39136	D	0.961944	D	0.89917	1.0	D	0.87578	0.998	T	0.82719	-0.0318	10	0.62326	D	0.03	.	16.7222	0.85413	0.0:1.0:0.0:0.0	.	710	P01024	CO3_HUMAN	Q	710	ENSP00000245907:R710Q	ENSP00000245907:R710Q	R	-	2	0	C3	6658203	0.816000	0.29132	0.014000	0.15608	0.020000	0.10135	7.133000	0.77259	2.244000	0.73946	0.591000	0.81541	CGG	-	HMMPfam_ANATO,HMMSmart_SM00104,PatternScan_ANAPHYLATOXIN_1,superfamily_Anaphylotoxins (complement system)		0.657	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	protein_coding	OTTHUMT00000317636.2	C	NM_000064		6658203	-1	no_errors	NM_000064.2	genbank	human	reviewed	54_36p	missense	SNP	0.942	T
NLRP11	204801	genome.wustl.edu	37	19	56321374	56321374	+	Missense_Mutation	SNP	T	T	G	rs368342871		TCGA-AB-2931-03A-01W-0745-08	TCGA-AB-2931-11A-01W-0745-08	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	87ebd9e4-74d3-4314-85ea-86e6feacd628	af114bb0-997c-4288-ad46-547239566692	g.chr19:56321374T>G	ENST00000589093.1	-	3	695	c.602A>C	c.(601-603)gAg>gCg	p.E201A	NLRP11_ENST00000592953.1_Missense_Mutation_p.E102A|NLRP11_ENST00000589824.2_Missense_Mutation_p.E201A|NLRP11_ENST00000360133.3_Missense_Mutation_p.E201A|NLRP11_ENST00000443188.1_Missense_Mutation_p.E201A			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	201	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GGCGATTAGCTCAGCCAAGCT	0.512																																						dbGAP											0			19											104.0	95.0	98.0					19																	56321374		2203	4300	6503	61013186	SO:0001583	missense	0			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.602A>C	19.37:g.56321374T>G	ENSP00000466285:p.Glu201Ala	Somatic	167	7.73	14		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	61013186	74	43.08	56	C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	PatternScan_CU2_MONOOXYGENASE_1,HMMSmart_SM00368,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_DEATH domain,superfamily_RNI-like	p.E201A	ENST00000589093.1	37	c.602	CCDS12935.1	19	.	.	.	.	.	.	.	.	.	.	T	11.46	1.644105	0.29246	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.79554	-1.28;-1.28	2.48	1.3	0.21679	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.81559	0.4848	L	0.55481	1.735	0.09310	N	1	P;P	0.49696	0.927;0.845	P;P	0.54706	0.759;0.646	T	0.69705	-0.5073	9	0.59425	D	0.04	.	7.1777	0.25755	0.0:0.0:0.2863:0.7137	.	201;201	P59045;P59045-2	NAL11_HUMAN;.	A	201	ENSP00000409898:E201A;ENSP00000353251:E201A	ENSP00000353251:E201A	E	-	2	0	NLRP11	61013186	0.021000	0.18746	0.027000	0.17364	0.038000	0.13279	0.764000	0.26532	0.264000	0.21851	0.496000	0.49642	GAG	-	HMMPfam_NACHT		0.512	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP11	protein_coding	OTTHUMT00000453657.1	T	NM_145007		61013186	-1	no_errors	NM_145007.3	genbank	human	validated	54_36p	missense	SNP	0.072	G
KRTAP10-7	386675	genome.wustl.edu	37	21	46020572	46020572	+	Silent	SNP	C	C	T			TCGA-AB-2931-03A-01W-0745-08	TCGA-AB-2931-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	87ebd9e4-74d3-4314-85ea-86e6feacd628	af114bb0-997c-4288-ad46-547239566692	g.chr21:46020572C>T	ENST00000380102.2	+	1	76	c.51C>T	c.(49-51)agC>agT	p.S17S	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	17						keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCTACGGCAGCCGCGTCTGCC	0.637																																						dbGAP											0			21											40.0	51.0	47.0					21																	46020572		2073	4193	6266	44845000	SO:0001819	synonymous_variant	0			AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.51C>T	21.37:g.46020572C>T		Somatic	109	5.17	6		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	44845000	49	41.67	35	Q0VDJ8|Q70LJ2	Silent	SNP	HMMPfam_Keratin_B2	p.S17	ENST00000380102.2	37	c.51		21																																																																																			-	NULL		0.637	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	KRTAP10-7	protein_coding	OTTHUMT00000128038.1	C	NM_198689		44845000	+1	no_errors	NM_198689.2	genbank	human	validated	54_36p	silent	SNP	0.002	T
NPM1	4869	genome.wustl.edu	37	5	170837543	170837544	+	Frame_Shift_Ins	INS	-	-	TCTG	rs17850940		TCGA-AB-2931-03A-01W-0745-08	TCGA-AB-2931-11A-01W-0745-08	-	-	-	TCTG	-	-	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	87ebd9e4-74d3-4314-85ea-86e6feacd628	af114bb0-997c-4288-ad46-547239566692	g.chr5:170837543_170837544insTCTG	ENST00000296930.5	+	11	1160_1161	c.859_860insTCTG	c.(859-861)ctcfs	p.-287fs	NPM1_ENST00000351986.6_Frame_Shift_Ins_p.-258fs|NPM1_ENST00000517671.1_Frame_Shift_Ins_p.-287fs	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)						cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)	p.W288fs*12(7)|p.W288fs*>9(5)|p.L287fs*11(2)|p.L287F(1)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TATTCAAGATCTCTGGCAGTGG	0.317			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""																																	dbGAP		Dom	yes		5	5q35	4869	"""nucleophosmin (nucleolar phosphoprotein B23, numatrin)"""		L	15	Insertion - Frameshift(14)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(15)	5																																								170770149	SO:0001589	frameshift_variant	0			M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"""nucleolar phosphoprotein B23"", ""numatrin"", ""nucleophosmin/nucleoplasmin family, member 1"""	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	ENST00000296930.5:c.860_863dupTCTG	5.37:g.170837544_170837547dupTCTG	ENSP00000296930:p.Leu287fs	Somatic	NA	NA	NA		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	170770148	NA	NA	NA	A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Frame_Shift_Ins	INS	HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain	p.W288fs	ENST00000296930.5	37	c.859_860	CCDS4376.1	5																																																																																			-	NULL		0.317	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	-	NM_002520		170770149	+1	no_errors	NM_002520.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	TCTG
FLT3	2322	genome.wustl.edu	37	13	28608219	28608220	+	Splice_Site	INS	-	-	AAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGCCCTG			TCGA-AB-2931-03A-01W-0745-08	TCGA-AB-2931-11A-01W-0745-08	-	-	-	AAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGCCCTG	-	-	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	87ebd9e4-74d3-4314-85ea-86e6feacd628	af114bb0-997c-4288-ad46-547239566692	g.chr13:28608219_28608220insAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGCCCTG	ENST00000241453.7	-	14	1917_1918	c.1836_1837insCAGGGCTTCTACGTTGATTTCAGAGAATATGAATATGATCTCAAATGGGAGTTTCCAAGAGAAAATTTAGAGTTT	c.(1834-1839)tttggg>tttCAGGGCTTCTACGTTGATTTCAGAGAATATGAATATGATCTCAAATGGGAGTTTCCAAGAGAAAATTTAGAGTTTggg	p.611_612insFQGFYVDFREYEYDLKWEFPRENLE	FLT3_ENST00000380982.4_Splice_Site_p.611_612insFQGFYVDFREYEYDLKWEFPRENLE|FLT3_ENST00000537084.1_Splice_Site_p.611_612insFQGFYVDFREYEYDLKWEFPRENLE	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	611	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.F612_G613ins20(1)|p.612_613>QVTGSSDNEYFYVDFREYEYDLKWEFPRENLEL(1)|p.F612_G613ins16(1)|p.F612_G613ins17(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCATTCTTACCAAACTCTAAAT	0.376			"""Mis, O"""		"""AML, ALL"""																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	4	Insertion - In frame(3)|Complex - insertion inframe(1)	haematopoietic_and_lymphoid_tissue(4)	13																																								27506220	SO:0001630	splice_region_variant	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1837+1->CAGGGCTTCTACGTTGATTTCAGAGAATATGAATATGATCTCAAATGGGAGTTTCCAAGAGAAAATTTAGAGTTT	13.37:g.28608219_28608220insAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGCCCTG		Somatic	NA	NA	NA		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	27506219	NA	NA	NA	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	INS	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.612in_frame_insQGFYVDFREYEYDLKWEFPRENLEF	ENST00000241453.7	37	c.1837_1836	CCDS31953.1	13																																																																																			-	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like		0.376	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-		In_Frame_Ins	27506220	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	1.000:1.000	AAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGCCCTG
