#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
CFLAR	8837	genome.wustl.edu	37	2	201994828	201994828	+	Silent	SNP	G	G	A			TCGA-AB-2812-03B-01W-0728-08	TCGA-AB-2812-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	e899a08c-13e5-4d91-8493-a97be4a59463	88f03d43-a9a5-464e-90d5-59a3033e1e8c	g.chr2:201994828G>A	ENST00000309955.3	+	2	755	c.240G>A	c.(238-240)gaG>gaA	p.E80E	CFLAR_ENST00000457277.1_Silent_p.E80E|CFLAR_ENST00000494258.1_5'Flank|CFLAR_ENST00000355558.4_Silent_p.E80E|CFLAR_ENST00000479953.2_5'Flank|CFLAR_ENST00000340870.5_Silent_p.E80E|CFLAR_ENST00000423241.2_Silent_p.E80E|CFLAR_ENST00000341222.6_Silent_p.E80E|CFLAR_ENST00000443227.1_Intron|CFLAR_ENST00000341582.6_Silent_p.E80E|CFLAR_ENST00000395148.2_Silent_p.E80E|CFLAR_ENST00000440180.1_Silent_p.E80E|CFLAR_ENST00000342795.5_Silent_p.E80E	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	80	Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of myoblast fusion (GO:1901740)|positive regulation of catalytic activity (GO:0043085)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of necroptotic process (GO:0060544)|regulation of satellite cell proliferation (GO:0014842)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|skeletal myofibril assembly (GO:0014866)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|ripoptosome (GO:0097342)	cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|enzyme activator activity (GO:0008047)|protease binding (GO:0002020)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						AAGCTGTGGAGACCCACCTGC	0.517																																					Pancreas(16;548 657 22190 32864 42338)	dbGAP											0			2											94.0	83.0	87.0					2																	201994828		2203	4300	6503	201703073	SO:0001819	synonymous_variant	0			AF005774	CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1	2q33-q34	2014-01-30			ENSG00000003402	ENSG00000003402		"""Endogenous ligands"""	1876	protein-coding gene	gene with protein product		603599		CASP8AP1		9208847, 9217161	Standard	NM_003879		Approved	CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP	uc002uxb.4	O15519	OTTHUMG00000132819	ENST00000309955.3:c.240G>A	2.37:g.201994828G>A		51	5.56	3		62	54.41	74	201703073	98	42.44	73	B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	Silent	SNP	HMMPfam_DED,HMMSmart_SM00031,superfamily_DEATH domain,HMMPfam_Peptidase_C14,HMMSmart_SM00115,superfamily_Caspase-like	p.E80	ENST00000309955.3	37	c.240	CCDS2337.1	2																																																																																			-	NULL		0.517	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CFLAR	protein_coding	OTTHUMT00000256276.3	G	NM_003879		201703073	+1	no_errors	NM_003879.1	genbank	human	validated	54_36p	silent	SNP	0.938	A
PPP1R3A	5506	genome.wustl.edu	37	7	113519787	113519787	+	Missense_Mutation	SNP	G	G	T	rs372819857		TCGA-AB-2812-03B-01W-0728-08	TCGA-AB-2812-11B-01W-0728-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	e899a08c-13e5-4d91-8493-a97be4a59463	88f03d43-a9a5-464e-90d5-59a3033e1e8c	g.chr7:113519787G>T	ENST00000284601.3	-	4	1428	c.1360C>A	c.(1360-1362)Cct>Act	p.P454T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	454					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GAGGGGCAAGGTATTTGCACT	0.393																																						dbGAP											0			7											99.0	90.0	93.0					7																	113519787		2203	4299	6502	113307023	SO:0001583	missense	0			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1360C>A	7.37:g.113519787G>T	ENSP00000284601:p.Pro454Thr	59	6.35	4		NA	NA	NA	113307023	123	51.74	134	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	HMMPfam_CBM_21	p.P454T	ENST00000284601.3	37	c.1360	CCDS5759.1	7	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657382	0.29425	.	.	ENSG00000154415	ENST00000284601;ENST00000449795	T;T	0.30182	2.47;1.54	5.4	-1.53	0.08611	.	0.784816	0.11766	N	0.531586	T	0.15522	0.0374	N	0.22421	0.69	0.09310	N	1	B	0.16802	0.019	B	0.14023	0.01	T	0.22068	-1.0227	10	0.59425	D	0.04	-1.6367	1.1856	0.01854	0.4791:0.1433:0.2396:0.138	.	454	Q16821	PPR3A_HUMAN	T	454;133	ENSP00000284601:P454T;ENSP00000401278:P133T	ENSP00000284601:P454T	P	-	1	0	PPP1R3A	113307023	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	0.058000	0.14301	-0.531000	0.06340	-0.367000	0.07326	CCT	-	NULL		0.393	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3A	protein_coding	OTTHUMT00000346724.1	G	NM_002711		113307023	-1	no_errors	NM_002711.3	genbank	human	reviewed	54_36p	missense	SNP	0.001	T
NHLRC2	374354	genome.wustl.edu	37	10	115664656	115664656	+	Silent	SNP	T	T	C			TCGA-AB-2812-03B-01W-0728-08	TCGA-AB-2812-11B-01W-0728-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	e899a08c-13e5-4d91-8493-a97be4a59463	88f03d43-a9a5-464e-90d5-59a3033e1e8c	g.chr10:115664656T>C	ENST00000369301.3	+	10	1997	c.1785T>C	c.(1783-1785)ccT>ccC	p.P595P		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	595										breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		CCAAACTACCTAAATCTGCTC	0.453																																						dbGAP											0			10											102.0	92.0	96.0					10																	115664656		2203	4300	6503	115654646	SO:0001819	synonymous_variant	0			AK090631	CCDS7585.1	10q26.11	2006-03-31			ENSG00000196865	ENSG00000196865			24731	protein-coding gene	gene with protein product						12477932	Standard	NM_198514		Approved	FLJ25621, FLJ20147, FLJ33312, MGC45492, DKFZp779F115	uc001lax.2	Q8NBF2	OTTHUMG00000019078	ENST00000369301.3:c.1785T>C	10.37:g.115664656T>C		53	8.62	5		15	16.67	3	115654646	136	43.90	108	Q8N1H1|Q8N5A6	Silent	SNP	HMMPfam_NHL,superfamily_Thioredoxin-like,superfamily_NHL repeat	p.P595	ENST00000369301.3	37	c.1785	CCDS7585.1	10																																																																																			-	NULL		0.453	NHLRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHLRC2	protein_coding	OTTHUMT00000050446.1	T	NM_198514		115654646	+1	no_errors	NM_198514.2	genbank	human	provisional	54_36p	silent	SNP	0.999	C
CNTN5	53942	genome.wustl.edu	37	11	100211915	100211915	+	Missense_Mutation	SNP	A	A	C			TCGA-AB-2812-03B-01W-0728-08	TCGA-AB-2812-11B-01W-0728-08	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	e899a08c-13e5-4d91-8493-a97be4a59463	88f03d43-a9a5-464e-90d5-59a3033e1e8c	g.chr11:100211915A>C	ENST00000524871.1	+	23	3298	c.3008A>C	c.(3007-3009)gAa>gCa	p.E1003A	CNTN5_ENST00000279463.3_Missense_Mutation_p.E1003A|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Missense_Mutation_p.E929A|CNTN5_ENST00000528682.1_Missense_Mutation_p.E1003A	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	1003	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TTAGCCAACGAATCTGAAGTT	0.433																																						dbGAP											0			11											138.0	136.0	137.0					11																	100211915		1866	4109	5975	99717125	SO:0001583	missense	0			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.3008A>C	11.37:g.100211915A>C	ENSP00000435637:p.Glu1003Ala	88	5.38	5		NA	NA	NA	99717125	211	41.14	151	A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_V-set,HMMPfam_ig,superfamily_Immunoglobulin	p.E1003A	ENST00000524871.1	37	c.3008	CCDS53696.1	11	.	.	.	.	.	.	.	.	.	.	A	20.3	3.971034	0.74246	.	.	ENSG00000149972	ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	5.46	5.46	0.80206	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74176	0.3682	M	0.83312	2.635	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.85130	0.991;0.997	T	0.77413	-0.2597	9	.	.	.	.	14.7093	0.69215	1.0:0.0:0.0:0.0	.	929;1003	O94779-2;O94779	.;CNTN5_HUMAN	A	1003;1003;929;1003	ENSP00000436185:E1003A;ENSP00000435637:E1003A;ENSP00000393229:E929A;ENSP00000279463:E1003A	.	E	+	2	0	CNTN5	99717125	1.000000	0.71417	0.979000	0.43373	0.878000	0.50629	8.489000	0.90461	2.075000	0.62263	0.533000	0.62120	GAA	-	HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III		0.433	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTN5	protein_coding	OTTHUMT00000395148.2	A	NM_014361		99717125	+1	no_errors	NM_014361.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
GXYLT1	283464	genome.wustl.edu	37	12	42512850	42512850	+	Silent	SNP	T	T	C			TCGA-AB-2812-03B-01W-0728-08	TCGA-AB-2812-11B-01W-0728-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	e899a08c-13e5-4d91-8493-a97be4a59463	88f03d43-a9a5-464e-90d5-59a3033e1e8c	g.chr12:42512850T>C	ENST00000398675.3	-	3	670	c.438A>G	c.(436-438)caA>caG	p.Q146Q	GXYLT1_ENST00000280876.6_Silent_p.Q115Q	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	146					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|O-glycan processing (GO:0016266)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						AAATATGGAATTGAAGAGGTT	0.348																																						dbGAP											0			12											85.0	78.0	80.0					12																	42512850		1896	4113	6009	40799117	SO:0001819	synonymous_variant	0			BC015597	CCDS41771.1, CCDS41772.1	12q12	2013-10-11	2009-11-17	2009-11-17	ENSG00000151233	ENSG00000151233		"""Glycosyltransferase family 8 domain containing"""	27482	protein-coding gene	gene with protein product		613321	"""glycosyltransferase 8 domain containing 3"""	GLT8D3		19940119	Standard	NM_001099650		Approved	FLJ43151	uc001rms.4	Q4G148	OTTHUMG00000169379	ENST00000398675.3:c.438A>G	12.37:g.42512850T>C		68	1.45	1		10	37.50	6	40799117	174	37.32	106	B3KWJ2|Q8IXV1|Q96BH4	Silent	SNP	HMMPfam_Glyco_transf_8,superfamily_Nucleotide-diphospho-sugar transferases	p.Q146	ENST00000398675.3	37	c.438	CCDS41772.1	12																																																																																			-	HMMPfam_Glyco_transf_8,superfamily_Nucleotide-diphospho-sugar transferases		0.348	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLT8D3	protein_coding	OTTHUMT00000403778.1	T	XM_290597		40799117	-1	no_errors	NM_173601.1	genbank	human	validated	54_36p	silent	SNP	0.647	C
FKBP11	51303	genome.wustl.edu	37	12	49315953	49315953	+	Silent	SNP	C	C	A			TCGA-AB-2812-03B-01W-0728-08	TCGA-AB-2812-11B-01W-0728-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	e899a08c-13e5-4d91-8493-a97be4a59463	88f03d43-a9a5-464e-90d5-59a3033e1e8c	g.chr12:49315953C>A	ENST00000550765.1	-	6	818	c.420G>T	c.(418-420)ctG>ctT	p.L140L	AC073610.5_ENST00000537495.1_3'UTR|RP11-302B13.5_ENST00000398092.4_Intron|CCDC65_ENST00000266984.5_Intron|FKBP11_ENST00000444214.2_Silent_p.L38L	NM_016594.2	NP_057678.1	Q9NYL4	FKB11_HUMAN	FK506 binding protein 11, 19 kDa	140	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			kidney(1)|large_intestine(3)|lung(1)	5						TTAGTGCAATCAGCTCCACGT	0.547																																						dbGAP											0			12											94.0	88.0	90.0					12																	49315953		2203	4300	6503	47602220	SO:0001819	synonymous_variant	0			AF238079	CCDS8773.1, CCDS44870.1, CCDS44871.1	12q13.12	2008-08-04	2002-08-29			ENSG00000134285			18624	protein-coding gene	gene with protein product		610571	"""FK506 binding protein 11 (19 kDa)"""			12036304, 16596453	Standard	NM_016594		Approved	FKBP19	uc001rsp.3	Q9NYL4		ENST00000550765.1:c.420G>T	12.37:g.49315953C>A		79	1.23	1		22	31.25	10	47602220	166	45.45	140	B4DWB7	Silent	SNP	HMMPfam_FKBP_C,superfamily_SSF54534	p.L140	ENST00000550765.1	37	c.420	CCDS8773.1	12																																																																																			-	HMMPfam_FKBP_C,superfamily_SSF54534		0.547	FKBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP11	protein_coding	OTTHUMT00000408927.1	C	NM_016594		47602220	-1	no_errors	NM_016594.1	genbank	human	validated	54_36p	silent	SNP	0.997	A
PARP4	143	genome.wustl.edu	37	13	25058867	25058867	+	Missense_Mutation	SNP	C	C	T	rs143070451	byFrequency	TCGA-AB-2812-03B-01W-0728-08	TCGA-AB-2812-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	e899a08c-13e5-4d91-8493-a97be4a59463	88f03d43-a9a5-464e-90d5-59a3033e1e8c	g.chr13:25058867C>T	ENST00000381989.3	-	12	1477	c.1372G>A	c.(1372-1374)Gta>Ata	p.V458I		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	458	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TCTTCCACTACTTTGGGTAAA	0.453																																						dbGAP											0			13											136.0	138.0	137.0					13																	25058867		2203	4297	6500	23956867	SO:0001583	missense	0			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.1372G>A	13.37:g.25058867C>T	ENSP00000371419:p.Val458Ile	52	0.00	0		103	0.00	0	23956867	159	15.62	30	O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	HMMPfam_BRCT,HMMSmart_BRCT,superfamily_BRCT,HMMPfam_VWA,HMMSmart_VWA,superfamily_PARP_reg,HMMSmart_VIT,HMMPfam_PARP,HMMPfam_VIT,superfamily_SSF53300,superfamily_SSF56399	p.V458I	ENST00000381989.3	37	c.1372	CCDS9307.1	13	47	0.02152014652014652	23	0.046747967479674794	2	0.0055248618784530384	7	0.012237762237762238	15	0.01978891820580475	C	16.65	3.183039	0.57800	.	.	ENSG00000102699	ENST00000381989	T	0.13901	2.55	4.35	3.4	0.38934	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.162995	0.39985	N	0.001218	T	0.01523	0.0049	L	0.41906	1.305	0.26728	N	0.970657	P	0.37708	0.606	B	0.39904	0.313	T	0.12528	-1.0544	10	0.42905	T	0.14	-16.8693	5.0719	0.14611	0.0:0.7642:0.0:0.2358	.	458	Q9UKK3	PARP4_HUMAN	I	458	ENSP00000371419:V458I	ENSP00000371419:V458I	V	-	1	0	PARP4	23956867	0.210000	0.23517	0.999000	0.59377	0.973000	0.67179	0.932000	0.28884	2.229000	0.72834	0.650000	0.86243	GTA	-	HMMPfam_PARP,superfamily_SSF56399		0.453	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP4	protein_coding	OTTHUMT00000044189.1	C	NM_006437		23956867	-1	no_errors	NM_006437.3	genbank	human	reviewed	54_36p	missense	SNP	0.975	T
SLC12A3	6559	genome.wustl.edu	37	16	56926951	56926951	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2812-03B-01W-0728-08	TCGA-AB-2812-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	e899a08c-13e5-4d91-8493-a97be4a59463	88f03d43-a9a5-464e-90d5-59a3033e1e8c	g.chr16:56926951C>T	ENST00000563236.1	+	21	2531	c.2506C>T	c.(2506-2508)Ctc>Ttc	p.L836F	SLC12A3_ENST00000566786.1_Missense_Mutation_p.L844F|SLC12A3_ENST00000438926.2_Missense_Mutation_p.L845F|SLC12A3_ENST00000262502.5_Missense_Mutation_p.L835F			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	836					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CATCTACTGGCTCTTTGACGA	0.632																																						dbGAP											0			16											113.0	79.0	91.0					16																	56926951		2198	4300	6498	55484452	SO:0001583	missense	0				CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.2506C>T	16.37:g.56926951C>T	ENSP00000456149:p.Leu836Phe	30	0.00	0		NA	NA	NA	55484452	112	47.47	103	A8MSJ2|C9JNN9	Missense_Mutation	SNP	HMMPfam_AA_permease,HMMPfam_AA_permease_N	p.L845F	ENST00000563236.1	37	c.2533	CCDS58464.1	16	.	.	.	.	.	.	.	.	.	.	C	14.09	2.433007	0.43224	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.23	4.27	0.50696	.	0.062091	0.64402	D	0.000003	T	0.79233	0.4411	M	0.92507	3.315	0.58432	D	0.999998	P;B;B	0.39782	0.688;0.224;0.332	P;B;B	0.46389	0.515;0.179;0.333	T	0.83324	-0.0016	9	0.87932	D	0	.	13.011	0.58731	0.0:0.9217:0.0:0.0783	.	844;836;845	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	F	844;845	.	ENSP00000262502:L845F	L	+	1	0	SLC12A3	55484452	1.000000	0.71417	0.982000	0.44146	0.066000	0.16364	3.876000	0.56115	1.201000	0.43203	0.655000	0.94253	CTC	-	NULL		0.632	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC12A3	protein_coding	OTTHUMT00000432337.1	C			55484452	+1	no_errors	NM_000339.2	genbank	human	reviewed	54_36p	missense	SNP	0.999	T
TNNC2	7125	genome.wustl.edu	37	20	44453167	44453167	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2812-03B-01W-0728-08	TCGA-AB-2812-11B-01W-0728-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	e899a08c-13e5-4d91-8493-a97be4a59463	88f03d43-a9a5-464e-90d5-59a3033e1e8c	g.chr20:44453167G>T	ENST00000372555.3	-	3	258	c.166C>A	c.(166-168)Ctg>Atg	p.L56M	TNNC2_ENST00000372557.1_Missense_Mutation_p.L41M	NM_003279.2	NP_003270.1	P02585	TNNC2_HUMAN	troponin C type 2 (fast)	56	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				muscle filament sliding (GO:0030049)|regulation of muscle contraction (GO:0006937)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.0122)			Felodipine(DB01023)	ATGGCGTCCAGCTCCTCCTTG	0.632																																						dbGAP											0			20											135.0	106.0	116.0					20																	44453167		2203	4300	6503	43886574	SO:0001583	missense	0				CCDS13375.1	20q12-q13.11	2013-01-10	2005-09-12		ENSG00000101470	ENSG00000101470		"""EF-hand domain containing"""	11944	protein-coding gene	gene with protein product		191039	"""troponin C2, fast"""			2373703	Standard	NM_003279		Approved		uc002xpr.3	P02585	OTTHUMG00000032623	ENST00000372555.3:c.166C>A	20.37:g.44453167G>T	ENSP00000361636:p.Leu56Met	50	10.71	6		1	0.00	0	43886574	120	46.93	107	Q6FH92	Missense_Mutation	SNP	HMMSmart_SM00054,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_EF-hand	p.L56M	ENST00000372555.3	37	c.166	CCDS13375.1	20	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337750	0.60963	.	.	ENSG00000101470	ENST00000372557;ENST00000372555	T;T	0.80304	-1.36;-1.36	4.49	-1.24	0.09435	EF-hand-like domain (1);	0.077015	0.53938	D	0.000059	D	0.87006	0.6070	M	0.80422	2.495	0.58432	D	0.999993	D	0.89917	1.0	D	0.91635	0.999	D	0.85350	0.1101	10	0.87932	D	0	-13.8369	9.5698	0.39420	0.5792:0.0:0.4208:0.0	.	56	P02585	TNNC2_HUMAN	M	41;56	ENSP00000361638:L41M;ENSP00000361636:L56M	ENSP00000361636:L56M	L	-	1	2	TNNC2	43886574	0.971000	0.33674	0.997000	0.53966	0.997000	0.91878	0.071000	0.14594	-0.088000	0.12506	0.557000	0.71058	CTG	-	HMMSmart_SM00054,HMMPfam_efhand,superfamily_EF-hand		0.632	TNNC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TNNC2	protein_coding	OTTHUMT00000079524.3	G	NM_003279		43886574	-1	no_errors	NM_003279.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
NPM1	4869	genome.wustl.edu	37	5	170837545	170837546	+	Frame_Shift_Ins	INS	-	-	TGCA			TCGA-AB-2812-03B-01W-0728-08	TCGA-AB-2812-11B-01W-0728-08	-	-	-	TGCA	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	e899a08c-13e5-4d91-8493-a97be4a59463	88f03d43-a9a5-464e-90d5-59a3033e1e8c	g.chr5:170837545_170837546insTGCA	ENST00000296930.5	+	11	1162_1163	c.861_862insTGCA	c.(862-864)tggfs	p.W288fs	NPM1_ENST00000517671.1_Frame_Shift_Ins_p.W288fs|NPM1_ENST00000351986.6_Frame_Shift_Ins_p.W259fs	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	288	Required for nucleolar localization.			WQWRKSL -> CLAVEEVSLRK (in Ref. 6; AAW67752/AAW67755). {ECO:0000305}.|WQWRKSL -> CMAVEEVSLRK (in Ref. 6; AAW67753 and 7; ABC40399). {ECO:0000305}.|WQWRKSL -> CVAVEEVSLRK (in Ref. 6; AAW67754). {ECO:0000305}.	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(12)|p.W288fs*>9(2)|p.W288fs*10(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)			TTCAAGATCTCTGGCAGTGGAG	0.312			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""																																	dbGAP		Dom	yes		5	5q35	4869	"""nucleophosmin (nucleolar phosphoprotein B23, numatrin)"""		L	17	Insertion - Frameshift(14)|Complex - frameshift(2)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(17)	5																																								170770151	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	Exception_encountered	5.37:g.170837545_170837546insTGCA	ENSP00000296930:p.Trp288fs	NA	NA	NA		NA	NA	NA	170770150	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.W287fs	ENST00000296930.5	37	c.861_862	CCDS4376.1	5																																																																																			-	NULL		0.312	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	-	NM_002520		170770151	+1	no_errors	NM_002520.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	TGCA
FLT3	2322	genome.wustl.edu	37	13	28608256	28608257	+	In_Frame_Ins	INS	-	-	TCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAG			TCGA-AB-2812-03B-01W-0728-08	TCGA-AB-2812-11B-01W-0728-08	-	-	-	TCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	e899a08c-13e5-4d91-8493-a97be4a59463	88f03d43-a9a5-464e-90d5-59a3033e1e8c	g.chr13:28608256_28608257insTCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAG	ENST00000241453.7	-	14	1880_1881	c.1799_1800insCTCCTCAGATAATGAGTACTTCTACGTTGATTTCAGAGAATATGAATATGA	c.(1798-1800)gat>gaCTCCTCAGATAATGAGTACTTCTACGTTGATTTCAGAGAATATGAATATGAt	p.600_600D>DSSDNEYFYVDFREYEYD	FLT3_ENST00000537084.1_In_Frame_Ins_p.600_600D>DSSDNEYFYVDFREYEYD|FLT3_ENST00000380982.4_In_Frame_Ins_p.600_600D>DSSDNEYFYVDFREYEYD	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	600					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.D600_L601insFREYEYD(4)|p.D600_L601ins17(2)|p.Y599_D600insEYEYEYEY(2)|p.Y599_D600ins15(2)|p.Y599_D600ins12(1)|p.D600>EPAPQINSTGSSDNEYFYVDFREYEYDLT(1)|p.D600_L601insVDFREYEY(1)|p.D600_L601ins28(1)|p.D600_L601ins20(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)	CCCATTTGAGATCATATTCATA	0.366			"""Mis, O"""		"""AML, ALL"""																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	15	Insertion - In frame(14)|Complex - insertion inframe(1)	haematopoietic_and_lymphoid_tissue(15)	13																																								27506257	SO:0001652	inframe_insertion	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.1749_1799dupCTCCTCAGATAATGAGTACTTCTACGTTGATTTCAGAGAATATGAATATGA	13.37:g.28608256_28608257insTCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAG	ENSP00000241453:p.SerSerAspAsnGluTyrPheTyrValAspPheArgGluTyrGluTyrAsp600dup	NA	NA	NA		NA	NA	NA	27506256	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.601in_frame_insSSDNEYFYVDFREYEYD	ENST00000241453.7	37	c.1800_1799	CCDS31953.1	13																																																																																			-	superfamily_Kinase_like		0.366	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-			27506257	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	0.998:1.000	TCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAG
