#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
MED14	9282	genome.wustl.edu	37	X	40531148	40531148	+	Missense_Mutation	SNP	T	T	C	rs372684601		TCGA-AB-2976-03A-01D-0739-09	TCGA-AB-2976-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5bd15984-630f-46a9-a99e-0c24b26f2ed7	fc79912e-0c78-44d9-9951-4b2dfcd349c9	g.chrX:40531148T>C	ENST00000324817.1	-	23	3216	c.3098A>G	c.(3097-3099)aAt>aGt	p.N1033S		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	1033	Pro-rich.				androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.N1033S(3)		NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGGAGACTGATTGACTGTGCT	0.398																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	X						T	SER/ASN	0,3835		0,0,1632,571	231.0	197.0	208.0		3098	4.3	0.9	X		208	1,6727		0,1,2427,1872	no	missense	MED14	NM_004229.3	46	0,1,4059,2443	CC,CT,TT,T		0.0149,0.0,0.0095	benign	1033/1455	40531148	1,10562	2203	4300	6503	40416092	SO:0001583	missense	0			AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.3098A>G	X.37:g.40531148T>C	ENSP00000323720:p.Asn1033Ser	885	12.03	121		1	98.31	58	40416092	86	93.52	1241	Q4KMR7|Q9UNB3	Missense_Mutation	SNP	HMMPfam_MED14	p.N1033S	ENST00000324817.1	37	c.3098	CCDS14254.1	X	.	.	.	.	.	.	.	.	.	.	T	6.723	0.502159	0.12822	0.0	1.49E-4	ENSG00000180182	ENST00000324817	.	.	.	5.52	4.31	0.51392	.	0.200179	0.49916	N	0.000133	T	0.23289	0.0563	L	0.29908	0.895	0.26271	N	0.978423	B	0.02656	0.0	B	0.04013	0.001	T	0.33574	-0.9863	9	0.02654	T	1	.	6.1894	0.20516	0.0:0.1018:0.3194:0.5789	.	1033	O60244	MED14_HUMAN	S	1033	.	ENSP00000323720:N1033S	N	-	2	0	MED14	40416092	1.000000	0.71417	0.943000	0.38184	0.992000	0.81027	3.648000	0.54410	0.683000	0.31428	0.486000	0.48141	AAT	-	NULL		0.398	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MED14	protein_coding	OTTHUMT00000060692.1	T	NM_004229		40416092	-1	no_errors	NM_004229.3	genbank	human	reviewed	54_36p	missense	SNP	0.797	C
PHF6	84295	genome.wustl.edu	37	X	133547992	133547992	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2976-03A-01D-0739-09	TCGA-AB-2976-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5bd15984-630f-46a9-a99e-0c24b26f2ed7	fc79912e-0c78-44d9-9951-4b2dfcd349c9	g.chrX:133547992G>A	ENST00000332070.3	+	7	927	c.725G>A	c.(724-726)tGc>tAc	p.C242Y	PHF6_ENST00000370803.3_Missense_Mutation_p.C242Y|PHF6_ENST00000370799.1_Missense_Mutation_p.C243Y|PHF6_ENST00000394292.1_Missense_Mutation_p.C243Y|PHF6_ENST00000370800.4_Missense_Mutation_p.C243Y|PHF6_ENST00000416404.2_Missense_Mutation_p.C208Y	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	242	Extended PHD2 domain (ePHD2).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|scaffold protein binding (GO:0097110)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.C242Y(3)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					CATTATAAGTGCATGGTAAGC	0.363			"""F, N, Splice, Mis"""		ETP ALL																																Colon(100;666 1493 6344 21231 35807)	dbGAP		Rec	yes		X	Xq26.3	84295	PHD finger protein 6		L	3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	X											124.0	116.0	119.0					X																	133547992		2203	4300	6503	133375658	SO:0001583	missense	0			AB058726	CCDS14639.1, CCDS14640.1	Xq26	2014-09-17			ENSG00000156531	ENSG00000156531		"""Zinc fingers, PHD-type"""	18145	protein-coding gene	gene with protein product	"""centromere protein 31"""	300414	"""Borjeson-Forssman-Lehmann syndrome"""	BFLS, BORJ		12415272, 15466013	Standard	NM_032335		Approved	KIAA1823, MGC14797, CENP-31	uc004exk.3	Q8IWS0	OTTHUMG00000022453	ENST00000332070.3:c.725G>A	X.37:g.133547992G>A	ENSP00000329097:p.Cys242Tyr	334	11.64	44		1	96.15	25	133375658	48	92.25	571	A8K230|B4E0G4|D3DTG3|E9PC97|Q5JRC7|Q5JRC8|Q96JK3|Q9BRU0	Missense_Mutation	SNP	HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger	p.C242Y	ENST00000332070.3	37	c.725	CCDS14639.1	X	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019686	0.75275	.	.	ENSG00000156531	ENST00000370803;ENST00000332070;ENST00000394292;ENST00000370799;ENST00000416404;ENST00000370800	D;D;D;D;D;D	0.91407	-2.02;-2.02;-2.02;-2.02;-2.02;-2.84	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.96500	0.8858	M	0.92738	3.34	0.80722	D	1	D;D;D;D;D	0.76494	0.997;0.999;0.997;0.997;0.997	D;D;D;D;D	0.83275	0.995;0.996;0.996;0.996;0.991	D	0.97439	1.0020	10	0.87932	D	0	-7.8224	17.3046	0.87191	0.0:0.0:1.0:0.0	.	208;242;242;243;243	B4E0G4;A8K230;Q8IWS0;E9PC97;Q8IWS0-2	.;.;PHF6_HUMAN;.;.	Y	242;242;243;243;208;243	ENSP00000359839:C242Y;ENSP00000329097:C242Y;ENSP00000377831:C243Y;ENSP00000359835:C243Y;ENSP00000394480:C208Y;ENSP00000359836:C243Y	ENSP00000329097:C242Y	C	+	2	0	PHF6	133375658	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.399000	0.97285	2.386000	0.81285	0.594000	0.82650	TGC	-	NULL		0.363	PHF6-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHF6	protein_coding	OTTHUMT00000058367.1	G	NM_032458		133375658	+1	no_errors	NM_001015877.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
TTC39A	22996	genome.wustl.edu	37	1	51775086	51775086	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2976-03A-01D-0739-09	TCGA-AB-2976-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5bd15984-630f-46a9-a99e-0c24b26f2ed7	fc79912e-0c78-44d9-9951-4b2dfcd349c9	g.chr1:51775086C>A	ENST00000447632.2	-	6	491	c.443G>T	c.(442-444)gGg>gTg	p.G148V	TTC39A_ENST00000371747.3_Missense_Mutation_p.G147V|TTC39A_ENST00000451380.1_Intron|TTC39A_ENST00000262675.7_Intron|TTC39A_ENST00000413473.2_Intron|TTC39A_ENST00000371750.5_Intron|TTC39A_ENST00000262676.5_Missense_Mutation_p.G144V			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	148								p.G148V(3)|p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						CCTGACTGCCCCTCCGTGTGA	0.612																																						dbGAP											5	Substitution - Missense(3)|Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(3)|thyroid(1)|central_nervous_system(1)	1																																								51547674	SO:0001583	missense	0			AB007921	CCDS44143.1, CCDS44144.1, CCDS72789.1, CCDS72790.1	1p32.3	2013-01-11	2008-06-23	2008-06-23	ENSG00000085831	ENSG00000085831		"""Tetratricopeptide (TTC) repeat domain containing"""	18657	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 34"""	C1orf34		9455484, 9461476	Standard	XM_005270643		Approved	KIAA0452, DEME-6	uc010onf.2	Q5SRH9	OTTHUMG00000008193	ENST00000447632.2:c.443G>T	1.37:g.51775086C>A	ENSP00000393952:p.Gly148Val	1137	4.53	54		NA	NA	NA	51547674	415	48.06	385	B7Z782|E7EQY9|G3XAF8|O43417|O75040|Q5SRH5|Q5SRH6|Q5SRH7|Q5SRH8|Q5SRI0|Q5SRI1|Q5SRI2|Q5T7S1|Q6PIU8|Q9BT24	Missense_Mutation	SNP	HMMPfam_Deme6,HMMSmart_SM00028,superfamily_TPR-like	p.G148V	ENST00000447632.2	37	c.443		1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.889683	0.33348	.	.	ENSG00000085831	ENST00000447632;ENST00000371747;ENST00000262676;ENST00000380849;ENST00000401051;ENST00000532836	T;T	0.50813	0.75;0.73	4.26	1.03	0.20045	.	449.257000	0.00980	U	0.003368	T	0.37785	0.1016	.	.	.	0.09310	N	1	P;B	0.35982	0.531;0.077	B;B	0.35470	0.203;0.097	T	0.33904	-0.9850	9	0.66056	D	0.02	.	3.947	0.09352	0.0:0.5756:0.1989:0.2255	.	144;148	Q5SRH9-3;Q5SRH9	.;TT39A_HUMAN	V	148;147;144;120;151;120	ENSP00000393952:G148V;ENSP00000360812:G147V	ENSP00000262676:G144V	G	-	2	0	TTC39A	51547674	0.000000	0.05858	0.016000	0.15963	0.502000	0.33828	0.242000	0.18087	0.517000	0.28361	0.436000	0.28706	GGG	-	HMMPfam_Deme6		0.612	TTC39A-004	KNOWN	basic	protein_coding	TTC39A	protein_coding	OTTHUMT00000022434.2	C			51547674	-1	no_errors	ENST00000371750	ensembl	human	known	54_36p	missense	SNP	0.000	A
GATAD2B	57459	genome.wustl.edu	37	1	153791329	153791329	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AB-2976-03A-01D-0739-09	TCGA-AB-2976-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5bd15984-630f-46a9-a99e-0c24b26f2ed7	fc79912e-0c78-44d9-9951-4b2dfcd349c9	g.chr1:153791329G>A	ENST00000368655.4	-	4	778	c.535C>T	c.(535-537)Cga>Tga	p.R179*		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	179	CR1; MBD2- and MBD3-binding.				ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R179*(3)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGGACCAGTCGGGCTTCTTCC	0.478																																						dbGAP											3	Substitution - Nonsense(3)	haematopoietic_and_lymphoid_tissue(3)	1											134.0	132.0	132.0					1																	153791329		2203	4300	6503	152057953	SO:0001587	stop_gained	0			AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"""GATA zinc finger domain containing"""	30778	protein-coding gene	gene with protein product	"""transcription repressor p66 beta component of the MeCP1 complex"""	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.535C>T	1.37:g.153791329G>A	ENSP00000357644:p.Arg179*	1286	5.02	68		41	32.79	20	152057953	651	45.89	552	D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Nonsense_Mutation	SNP	HMMPfam_GATA,PatternScan_GATA_ZN_FINGER_1,superfamily_SSF57716	p.R179*	ENST00000368655.4	37	c.535	CCDS1054.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.195892	0.97367	.	.	ENSG00000143614	ENST00000368655	.	.	.	5.83	2.54	0.30619	.	0.061993	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-6.9346	15.4773	0.75493	0.0:0.0:0.6333:0.3667	.	.	.	.	X	179	.	ENSP00000357644:R179X	R	-	1	2	GATAD2B	152057953	0.964000	0.33143	1.000000	0.80357	0.998000	0.95712	0.818000	0.27295	0.770000	0.33336	0.561000	0.74099	CGA	-	NULL		0.478	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATAD2B	protein_coding	OTTHUMT00000090305.1	G	NM_020699		152057953	-1	no_errors	NM_020699.2	genbank	human	validated	54_36p	nonsense	SNP	1.000	A
MYOC	4653	genome.wustl.edu	37	1	171621554	171621554	+	Silent	SNP	C	C	T			TCGA-AB-2976-03A-01D-0739-09	TCGA-AB-2976-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5bd15984-630f-46a9-a99e-0c24b26f2ed7	fc79912e-0c78-44d9-9951-4b2dfcd349c9	g.chr1:171621554C>T	ENST00000037502.6	-	1	269	c.198G>A	c.(196-198)caG>caA	p.Q66Q		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	66					bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)	p.Q66Q(3)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CTGACATGGCCTGGCTCTGCT	0.577																																						dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	1											126.0	97.0	107.0					1																	171621554		2203	4300	6503	169888177	SO:0001819	synonymous_variant	0			BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.198G>A	1.37:g.171621554C>T		1293	5.13	70		NA	NA	NA	169888177	603	46.54	525	B2RD84|O00620|Q7Z6Q9	Silent	SNP	HMMPfam_OLF,HMMSmart_SM00284	p.Q66	ENST00000037502.6	37	c.198	CCDS1297.1	1																																																																																			-	NULL		0.577	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOC	protein_coding	OTTHUMT00000084178.2	C	NM_000261		169888177	-1	no_errors	NM_000261.1	genbank	human	reviewed	54_36p	silent	SNP	0.450	T
TNR	7143	genome.wustl.edu	37	1	175348815	175348815	+	Silent	SNP	G	G	A	rs139768853	byFrequency	TCGA-AB-2976-03A-01D-0739-09	TCGA-AB-2976-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5bd15984-630f-46a9-a99e-0c24b26f2ed7	fc79912e-0c78-44d9-9951-4b2dfcd349c9	g.chr1:175348815G>A	ENST00000367674.2	-	9	2544	c.1836C>T	c.(1834-1836)ctC>ctT	p.L612L	TNR_ENST00000263525.2_Silent_p.L612L			Q92752	TENR_HUMAN	tenascin R	612	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.L612L(3)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TATCCCACTCGAGGTCAAGGC	0.507													G|||	8	0.00159744	0.0008	0.0086	5008	,	,		22443	0.0		0.001	False		,,,				2504	0.0					dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	1						G		12,4394	20.2+/-43.8	1,10,2192	106.0	80.0	89.0		1836	-10.9	0.1	1	dbSNP_134	89	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	TNR	NM_003285.2		1,14,6488	AA,AG,GG		0.0465,0.2724,0.123		612/1359	175348815	16,12990	2203	4300	6503	173615438	SO:0001819	synonymous_variant	0			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1836C>T	1.37:g.175348815G>A		1564	5.78	96		NA	NA	NA	173615438	913	46.42	791	C9J563|Q15568|Q5R3G0	Silent	SNP	HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like,HMMPfam_fn3,HMMSmart_SM00060,HMMSmart_SM00181,superfamily_Fibronectin type III,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_EGF/Laminin	p.L612	ENST00000367674.2	37	c.1836	CCDS1318.1	1																																																																																			-	HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III		0.507	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	protein_coding	OTTHUMT00000084414.4	G	NM_003285		173615438	-1	no_errors	NM_003285.2	genbank	human	validated	54_36p	silent	SNP	0.635	A
BRINP3	339479	genome.wustl.edu	37	1	190250762	190250762	+	Missense_Mutation	SNP	T	T	A			TCGA-AB-2976-03A-01D-0739-09	TCGA-AB-2976-11A-01D-0739-09	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5bd15984-630f-46a9-a99e-0c24b26f2ed7	fc79912e-0c78-44d9-9951-4b2dfcd349c9	g.chr1:190250762T>A	ENST00000367462.3	-	3	586	c.355A>T	c.(355-357)Acc>Tcc	p.T119S	BRINP3_ENST00000534846.1_Intron|RP11-547I7.1_ENST00000452178.1_RNA	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	119	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.T119S(3)									TGCTGAAGGGTAGGTCGACGT	0.443																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	1											94.0	90.0	92.0					1																	190250762		2203	4300	6503	188517385	SO:0001583	missense	0			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.355A>T	1.37:g.190250762T>A	ENSP00000356432:p.Thr119Ser	772	5.95	49		NA	NA	NA	188517385	616	44.62	498	B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	HMMPfam_MACPF,HMMSmart_SM00457	p.T119S	ENST00000367462.3	37	c.355	CCDS1373.1	1	.	.	.	.	.	.	.	.	.	.	T	16.48	3.135622	0.56828	.	.	ENSG00000162670	ENST00000367462	D	0.83755	-1.76	5.67	5.67	0.87782	Membrane attack complex component/perforin (MACPF) domain (2);	0.000000	0.85682	D	0.000000	T	0.60457	0.2270	N	0.04297	-0.235	0.80722	D	1	B	0.09022	0.002	B	0.12837	0.008	T	0.58211	-0.7676	10	0.05959	T	0.93	.	9.1999	0.37251	0.1618:0.0:0.0:0.8382	.	119	Q76B58	FAM5C_HUMAN	S	119	ENSP00000356432:T119S	ENSP00000356432:T119S	T	-	1	0	FAM5C	188517385	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.126000	0.71635	2.162000	0.67917	0.477000	0.44152	ACC	-	HMMPfam_MACPF,HMMSmart_SM00457		0.443	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM5C	protein_coding	OTTHUMT00000086278.1	T	NM_199051		188517385	-1	no_errors	NM_199051.1	genbank	human	provisional	54_36p	missense	SNP	1.000	A
KLHL29	114818	genome.wustl.edu	37	2	23926116	23926116	+	Silent	SNP	T	T	G			TCGA-AB-2976-03A-01D-0739-09	TCGA-AB-2976-11A-01D-0739-09	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5bd15984-630f-46a9-a99e-0c24b26f2ed7	fc79912e-0c78-44d9-9951-4b2dfcd349c9	g.chr2:23926116T>G	ENST00000486442.1	+	12	2883	c.2166T>G	c.(2164-2166)tcT>tcG	p.S722S		NM_052920.1	NP_443152.1	Q96CT2	KLH29_HUMAN	kelch-like family member 29	722								p.S501S(3)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|lung(1)|ovary(3)	10						CAGTACACTCTGCTGCAGCCA	0.602																																						dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	2											43.0	47.0	46.0					2																	23926116		692	1591	2283	23779620	SO:0001819	synonymous_variant	0				CCDS54335.1	2p23.3	2013-09-27	2013-02-22	2007-01-09	ENSG00000119771	ENSG00000119771		"""Kelch-like"", ""BTB/POZ domain containing"""	29404	protein-coding gene	gene with protein product			"""kelch repeat and BTB (POZ) domain containing 9"", ""kelch-like 29 (Drosophila)"""	KBTBD9		11572484	Standard	NM_052920		Approved	KIAA1921	uc010ykg.2	Q96CT2	OTTHUMG00000151899	ENST00000486442.1:c.2166T>G	2.37:g.23926116T>G		316	3.06748466257669	10		0	0.00	0	23779620	204	47.4226804123711	184	Q8N388|Q96BF0|Q96PW7	Missense_Mutation	SNP	HMMSmart_SM00225,HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain,superfamily_POZ domain,HMMPfam_Kelch_2,HMMPfam_BACK,HMMPfam_BTB	p.L992R	ENST00000486442.1	37	c.2975	CCDS54335.1	2																																																																																			-	HMMSmart_SM00612		0.602	KLHL29-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	KLHL29	protein_coding	OTTHUMT00000324315.3	T	NM_052920		23779620	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	XM_001717454.1	genbank	human	model	54_36p	missense	SNP	0.898	G
BOC	91653	genome.wustl.edu	37	3	112999443	112999443	+	Silent	SNP	C	C	T			TCGA-AB-2976-03A-01D-0739-09	TCGA-AB-2976-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5bd15984-630f-46a9-a99e-0c24b26f2ed7	fc79912e-0c78-44d9-9951-4b2dfcd349c9	g.chr3:112999443C>T	ENST00000495514.1	+	14	2945	c.2241C>T	c.(2239-2241)ggC>ggT	p.G747G	BOC_ENST00000355385.3_Silent_p.G747G|BOC_ENST00000273395.4_Silent_p.G748G			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	747	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.G747G(3)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CAATCCATGGCTTTTATATCT	0.413																																						dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	3											168.0	160.0	163.0					3																	112999443		2203	4300	6503	114482133	SO:0001819	synonymous_variant	0			AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.2241C>T	3.37:g.112999443C>T		683	9.40	71		0	100.00	3	114482133	546	39.33	354	A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Silent	SNP	PatternScan_N6_MTASE,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_V-set,HMMPfam_ig,PatternScan_CYTOCHROME_P450,superfamily_Immunoglobulin	p.G747	ENST00000495514.1	37	c.2241	CCDS2971.1	3																																																																																			-	HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III		0.413	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BOC	protein_coding	OTTHUMT00000354485.3	C	NM_033254		114482133	+1	no_errors	NM_033254.2	genbank	human	validated	54_36p	silent	SNP	0.996	T
DAGLB	221955	genome.wustl.edu	37	7	6461400	6461400	+	Silent	SNP	C	C	T			TCGA-AB-2976-03A-01D-0739-09	TCGA-AB-2976-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5bd15984-630f-46a9-a99e-0c24b26f2ed7	fc79912e-0c78-44d9-9951-4b2dfcd349c9	g.chr7:6461400C>T	ENST00000297056.6	-	9	1345	c.1176G>A	c.(1174-1176)gtG>gtA	p.V392V	DAGLB_ENST00000425398.2_Silent_p.V263V|DAGLB_ENST00000436575.1_Silent_p.V351V|DAGLB_ENST00000421761.2_Silent_p.V136V|DAGLB_ENST00000428902.2_Silent_p.V265V	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	392					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.V392V(3)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CCACGTCCAGCACCTCACTCT	0.587																																						dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	7											237.0	142.0	174.0					7																	6461400		2203	4300	6503	6427925	SO:0001819	synonymous_variant	0			AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.1176G>A	7.37:g.6461400C>T		519	3.71057513914657	20		19	42.42	14	6427925	312	45.9272097053726	265	A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Silent	SNP	HMMPfam_Lipase_3,superfamily_alpha/beta-Hydrolases	p.V392	ENST00000297056.6	37	c.1176	CCDS5350.1	7																																																																																			-	HMMPfam_Lipase_3,superfamily_alpha/beta-Hydrolases		0.587	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAGLB	protein_coding	OTTHUMT00000246840.2	C	NM_139179		6427925	-1	no_errors	NM_139179.1	genbank	human	validated	54_36p	silent	SNP	0.092	T
SSC4D	136853	genome.wustl.edu	37	7	76022791	76022791	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2976-03A-01D-0739-09	TCGA-AB-2976-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5bd15984-630f-46a9-a99e-0c24b26f2ed7	fc79912e-0c78-44d9-9951-4b2dfcd349c9	g.chr7:76022791C>T	ENST00000275560.3	-	9	1611	c.1264G>A	c.(1264-1266)Gac>Aac	p.D422N	SRCRB4D_ENST00000492979.2_5'UTR	NM_080744.1	NP_542782.1												p.D422N(3)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						TGGAAGCAGTCGCTCAGGCGA	0.721																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	7											7.0	7.0	7.0					7																	76022791		2140	4212	6352	75860727	SO:0001583	missense	0																														ENST00000275560.3:c.1264G>A	7.37:g.76022791C>T	ENSP00000275560:p.Asp422Asn	326	5.78	20		NA	NA	NA	75860727	132	50.37	135		Missense_Mutation	SNP	HMMPfam_SRCR,PatternScan_SRCR_1,HMMSmart_SM00202,superfamily_SRCR-like	p.D422N	ENST00000275560.3	37	c.1264	CCDS5585.1	7	.	.	.	.	.	.	.	.	.	.	C	9.765	1.171166	0.21621	.	.	ENSG00000146700	ENST00000275560	T	0.46063	0.88	5.18	4.31	0.51392	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.268520	0.34986	N	0.003531	T	0.34221	0.0890	L	0.47078	1.49	0.41063	D	0.985398	P	0.36282	0.546	B	0.31245	0.126	T	0.16158	-1.0412	10	0.41790	T	0.15	.	12.7602	0.57359	0.0:0.9203:0.0:0.0797	.	422	Q8WTU2	SRB4D_HUMAN	N	422	ENSP00000275560:D422N	ENSP00000275560:D422N	D	-	1	0	SRCRB4D	75860727	0.031000	0.19500	1.000000	0.80357	0.004000	0.04260	1.960000	0.40422	1.202000	0.43218	-0.136000	0.14681	GAC	-	HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like		0.721	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCRB4D	protein_coding	OTTHUMT00000253001.3	C			75860727	-1	no_errors	NM_080744.1	genbank	human	provisional	54_36p	missense	SNP	1.000	T
KCNQ3	3786	genome.wustl.edu	37	8	133182665	133182665	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2976-03A-01D-0739-09	TCGA-AB-2976-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5bd15984-630f-46a9-a99e-0c24b26f2ed7	fc79912e-0c78-44d9-9951-4b2dfcd349c9	g.chr8:133182665C>T	ENST00000388996.4	-	8	1571	c.1151G>A	c.(1150-1152)aGg>aAg	p.R384K	KCNQ3_ENST00000521134.1_Missense_Mutation_p.R264K|KCNQ3_ENST00000519445.1_Missense_Mutation_p.R384K	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	384					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.R384K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	AGCATAATACCTCCAGGCAGC	0.502																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	8											72.0	70.0	70.0					8																	133182665		2203	4300	6503	133251847	SO:0001583	missense	0			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1151G>A	8.37:g.133182665C>T	ENSP00000373648:p.Arg384Lys	634	5.23	35		NA	NA	NA	133251847	435	48.70	413	A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	HMMPfam_Ion_trans,HMMPfam_KCNQ_channel,superfamily_SSF81324	p.R384K	ENST00000388996.4	37	c.1151	CCDS34943.1	8	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529362	0.85706	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99113	-5.44;-5.37;-5.43	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.99221	0.9729	M	0.73598	2.24	0.58432	D	0.999998	D;D	0.64830	0.994;0.994	D;D	0.70716	0.97;0.97	D	0.99837	1.1058	10	0.72032	D	0.01	-27.1266	19.3475	0.94370	0.0:1.0:0.0:0.0	.	384;384	E7ET42;O43525	.;KCNQ3_HUMAN	K	384;264;384;373;263	ENSP00000373648:R384K;ENSP00000429799:R264K;ENSP00000428790:R384K	ENSP00000373648:R384K	R	-	2	0	KCNQ3	133251847	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.412000	0.80091	2.816000	0.96949	0.563000	0.77884	AGG	-	NULL		0.502	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ3	protein_coding	OTTHUMT00000268621.2	C	NM_004519		133251847	-1	no_errors	NM_004519.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
Unknown	0	genome.wustl.edu	37	9	23959362	23959362	+	IGR	SNP	G	G	A			TCGA-AB-2976-03A-01D-0739-09	TCGA-AB-2976-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5bd15984-630f-46a9-a99e-0c24b26f2ed7	fc79912e-0c78-44d9-9951-4b2dfcd349c9	g.chr9:23959362G>A								RP11-321L2.2 (61310 upstream) : IZUMO3 (583587 downstream)																							caactgataggctttggttgt	0.388																																						dbGAP											0			9																																								23949362	SO:0001628	intergenic_variant	0																															9.37:g.23959362G>A		371	3.63636363636364	14		0	0.00	0	23949362	189	48.780487804878	180		Missense_Mutation	SNP	NULL	p.A558T		37	c.1672		9																																																																																			-	NULL	0	0.388					LOC100133655			G			23949362	+1	no_start_codon:pseudogene	XM_001716507.1	genbank	human	model	54_36p	missense	SNP	0.000	A
TEK	7010	genome.wustl.edu	37	9	27213572	27213572	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2976-03A-01D-0739-09	TCGA-AB-2976-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5bd15984-630f-46a9-a99e-0c24b26f2ed7	fc79912e-0c78-44d9-9951-4b2dfcd349c9	g.chr9:27213572G>A	ENST00000380036.4	+	18	3410	c.2968G>A	c.(2968-2970)Gag>Aag	p.E990K	TEK_ENST00000406359.4_Missense_Mutation_p.E947K|TEK_ENST00000519097.1_Missense_Mutation_p.E842K	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	990	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E990K(3)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	CCGAGGTCAAGAGGTGTATGT	0.438																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	9											126.0	123.0	124.0					9																	27213572		2203	4300	6503	27203572	SO:0001583	missense	0			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.2968G>A	9.37:g.27213572G>A	ENSP00000369375:p.Glu990Lys	1650	6.20	109		NA	NA	NA	27203572	910	48.99	877	A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,HMMPfam_fn3,HMMSmart_FN3,HMMSmart_EGF,PatternScan_PROTEIN_KINASE_TYR,superfamily_FN_III-like,superfamily_Kinase_like,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Ig_Tie2_1,superfamily_SSF48726	p.E990K	ENST00000380036.4	37	c.2968	CCDS6519.1	9	.	.	.	.	.	.	.	.	.	.	G	35	5.585539	0.96578	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359	D;D;D	0.83163	-1.69;-1.69;-1.69	5.65	5.65	0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.52532	D	0.000067	D	0.88804	0.6536	L	0.45352	1.415	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.80764	0.994;0.993;0.994	D	0.89322	0.3641	10	0.87932	D	0	.	19.7221	0.96147	0.0:0.0:1.0:0.0	.	842;1023;990	E7EWI2;Q59HG2;Q02763	.;.;TIE2_HUMAN	K	842;990;947	ENSP00000430686:E842K;ENSP00000369375:E990K;ENSP00000383977:E947K	ENSP00000369375:E990K	E	+	1	0	TEK	27203572	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.679000	0.91253	0.655000	0.94253	GAG	-	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like		0.438	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEK	protein_coding	OTTHUMT00000051965.3	G			27203572	+1	no_errors	NM_000459.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
OR4C15	81309	genome.wustl.edu	37	11	55322668	55322668	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2976-03A-01D-0739-09	TCGA-AB-2976-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5bd15984-630f-46a9-a99e-0c24b26f2ed7	fc79912e-0c78-44d9-9951-4b2dfcd349c9	g.chr11:55322668C>T	ENST00000314644.2	+	1	886	c.886C>T	c.(886-888)Cac>Tac	p.H296Y		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H296Y(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CTGTGGATCTCACATTGCTGT	0.428										HNSCC(20;0.049)																												dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	11											236.0	225.0	229.0					11																	55322668		2201	4296	6497	55079244	SO:0001583	missense	0			BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.886C>T	11.37:g.55322668C>T	ENSP00000324958:p.His296Tyr	1914	5.34	108		NA	NA	NA	55079244	1564	47.25	1401	Q6IFE2	Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,PatternScan_LECTIN_LEGUME_ALPHA,superfamily_Family A G protein-coupled receptor-like	p.H296Y	ENST00000314644.2	37	c.886	CCDS31501.1	11	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797462	0.70567	.	.	ENSG00000181939	ENST00000314644	T	0.00314	8.14	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01092	0.0036	H	0.94582	3.555	0.39619	D	0.969992	D	0.89917	1.0	D	0.97110	1.0	T	0.52275	-0.8597	9	0.87932	D	0	.	15.8636	0.79043	0.0:1.0:0.0:0.0	.	242	Q8NGM1	OR4CF_HUMAN	Y	296	ENSP00000324958:H296Y	ENSP00000324958:H296Y	H	+	1	0	OR4C15	55079244	1.000000	0.71417	0.897000	0.35233	0.633000	0.38033	4.983000	0.63832	2.608000	0.88229	0.385000	0.25706	CAC	-	HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like		0.428	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C15	protein_coding	OTTHUMT00000391164.1	C	NM_001001920		55079244	+1	no_errors	NM_001001920.1	genbank	human	provisional	54_36p	missense	SNP	0.975	T
PRR13	54458	genome.wustl.edu	37	12	53839828	53839828	+	Silent	SNP	C	C	T			TCGA-AB-2976-03A-01D-0739-09	TCGA-AB-2976-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5bd15984-630f-46a9-a99e-0c24b26f2ed7	fc79912e-0c78-44d9-9951-4b2dfcd349c9	g.chr12:53839828C>T	ENST00000429243.2	+	4	640	c.432C>T	c.(430-432)agC>agT	p.S144S	PRR13_ENST00000551003.1_Silent_p.S112S|PRR13_ENST00000549135.1_Silent_p.S144S|PRR13_ENST00000549068.1_3'UTR|RP11-793H13.8_ENST00000547717.1_RNA|PRR13_ENST00000546581.1_Silent_p.S48S|PRR13_ENST00000547368.1_Silent_p.S158S|PRR13_ENST00000379786.4_Silent_p.S94S|PCBP2_ENST00000541275.1_Intron|PRR13_ENST00000549924.1_Silent_p.S144S|PRR13_ENST00000549581.1_Silent_p.S94S	NM_001005354.2|NM_018457.3	NP_001005354.1|NP_060927.1	Q9NZ81	PRR13_HUMAN	proline rich 13	144	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.S94S(3)		haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(1)|urinary_tract(1)	6						CCTCTTCCAGCAGTGATTCTG	0.517																																						dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	12											294.0	279.0	284.0					12																	53839828		2203	4300	6503	52126095	SO:0001819	synonymous_variant	0			AF217517	CCDS31811.1, CCDS44899.1	12q13.13	2014-05-28			ENSG00000205352	ENSG00000205352			24528	protein-coding gene	gene with protein product		610459				11230166	Standard	NM_018457		Approved	FLJ23818, DKFZP564J157	uc001scz.4	Q9NZ81	OTTHUMG00000170049	ENST00000429243.2:c.432C>T	12.37:g.53839828C>T		422	8.06	37		86	49.41	84	52126095	163	53.14	186	Q0V8U0|Q6FIG7|Q6MZP8|Q6NXQ6|Q6PKF9	Silent	SNP	NULL	p.S144	ENST00000429243.2	37	c.432	CCDS44899.1	12																																																																																			-	NULL		0.517	PRR13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRR13	protein_coding	OTTHUMT00000407055.1	C	NM_018457		52126095	+1	no_errors	NM_018457.2	genbank	human	validated	54_36p	silent	SNP	1.000	T
ANKRD13A	88455	genome.wustl.edu	37	12	110471685	110471685	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2976-03A-01D-0739-09	TCGA-AB-2976-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5bd15984-630f-46a9-a99e-0c24b26f2ed7	fc79912e-0c78-44d9-9951-4b2dfcd349c9	g.chr12:110471685G>A	ENST00000261739.4	+	13	1598	c.1432G>A	c.(1432-1434)Gtg>Atg	p.V478M	C12orf76_ENST00000546651.2_Intron	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	478						endosome (GO:0005768)|plasma membrane (GO:0005886)		p.V478M(3)		endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						TGGCAGAAATGTGCATTTGCA	0.413																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	12											165.0	148.0	154.0					12																	110471685		2203	4300	6503	108956068	SO:0001583	missense	0			AF064604	CCDS9140.1	12q24.12	2013-01-10	2006-06-30	2006-06-30		ENSG00000076513		"""Ankyrin repeat domain containing"""	21268	protein-coding gene	gene with protein product		615123	"""ankyrin repeat domain 13"""	ANKRD13		10508479	Standard	NM_033121		Approved	NY-REN-25	uc001tpx.3	Q8IZ07	OTTHUMG00000169314	ENST00000261739.4:c.1432G>A	12.37:g.110471685G>A	ENSP00000261739:p.Val478Met	1762	6.33	119		39	49.35	38	108956068	724	45.03	594	O60736	Missense_Mutation	SNP	HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMPfam_UIM,HMMSmart_SM00726	p.V478M	ENST00000261739.4	37	c.1432	CCDS9140.1	12	.	.	.	.	.	.	.	.	.	.	G	12.02	1.812762	0.32053	.	.	ENSG00000076513	ENST00000261738;ENST00000261739;ENST00000547419;ENST00000553251;ENST00000549826	T	0.55760	0.5	5.63	-0.93	0.10441	.	1.086640	0.06775	N	0.784265	T	0.25494	0.0620	N	0.02315	-0.6	0.22896	N	0.998595	B;B;B	0.09022	0.001;0.002;0.002	B;B;B	0.09377	0.002;0.004;0.002	T	0.18745	-1.0327	10	0.44086	T	0.13	-12.0225	6.7219	0.23334	0.5569:0.1304:0.3127:0.0	.	477;224;478	B4DYP5;E9PGV0;Q8IZ07	.;.;AN13A_HUMAN	M	224;478;116;116;116	ENSP00000261739:V478M	ENSP00000261738:V224M	V	+	1	0	ANKRD13A	108956068	0.000000	0.05858	0.505000	0.27651	0.986000	0.74619	-0.426000	0.07008	-0.007000	0.14345	0.655000	0.94253	GTG	-	NULL		0.413	ANKRD13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD13A	protein_coding	OTTHUMT00000403430.1	G	NM_033121		108956068	+1	no_errors	NM_033121.1	genbank	human	validated	54_36p	missense	SNP	0.364	A
DDHD1	80821	genome.wustl.edu	37	14	53529750	53529750	+	Silent	SNP	C	C	T			TCGA-AB-2976-03A-01D-0739-09	TCGA-AB-2976-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5bd15984-630f-46a9-a99e-0c24b26f2ed7	fc79912e-0c78-44d9-9951-4b2dfcd349c9	g.chr14:53529750C>T	ENST00000323669.5	-	7	1676	c.1677G>A	c.(1675-1677)ttG>ttA	p.L559L	DDHD1_ENST00000395606.1_Silent_p.L566L|DDHD1_ENST00000357758.3_Silent_p.L559L	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	559					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.L559L(3)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					CCTTTTGCAGCAACTGTTCAT	0.393																																						dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	14											158.0	147.0	151.0					14																	53529750		2203	4300	6503	52599500	SO:0001819	synonymous_variant	0			AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.1677G>A	14.37:g.53529750C>T		1050	6.91	78		25	30.56	11	52599500	924	46.96	818	G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Silent	SNP	HMMPfam_DDHD	p.L559	ENST00000323669.5	37	c.1677	CCDS53895.1	14																																																																																			-	NULL		0.393	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	DDHD1	protein_coding	OTTHUMT00000276901.1	C			52599500	-1	no_errors	NM_030637.1	genbank	human	provisional	54_36p	silent	SNP	1.000	T
SKOR1	390598	genome.wustl.edu	37	15	68118536	68118536	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2976-03A-01D-0739-09	TCGA-AB-2976-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5bd15984-630f-46a9-a99e-0c24b26f2ed7	fc79912e-0c78-44d9-9951-4b2dfcd349c9	g.chr15:68118536G>T	ENST00000380035.2	+	2	428	c.370G>T	c.(370-372)Ggc>Tgc	p.G124C	SKOR1_ENST00000341418.5_Missense_Mutation_p.G310C|SKOR1_ENST00000554240.1_Missense_Mutation_p.G85C|SKOR1_ENST00000389002.1_Missense_Mutation_p.G115C|SKOR1_ENST00000554054.1_Missense_Mutation_p.G96C			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	124					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)	p.G115C(3)		endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						CGTGGCCCTGGGCATCACGTG	0.637																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	15											77.0	75.0	76.0					15																	68118536		2200	4298	6498	65905590	SO:0001583	missense	0				CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"""SKI transcriptional corepressors"""	21326	protein-coding gene	gene with protein product	"""transcriptional corepressor CORL1"", ""functional smad suppressing element 15"", ""corepressor for LBX1"""	611273	"""Lbxcor1 homolog (mouse)"""	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.370G>T	15.37:g.68118536G>T	ENSP00000369374:p.Gly124Cys	392	4.85436893203883	20		NA	NA	NA	65905590	269	43.1289640591966	204	A6NIP4|A6NJY0|Q2VWA5	Missense_Mutation	SNP	HMMPfam_Ski_Sno,superfamily_Putativ_DNA_bind,superfamily_SAND_like,HMMPfam_c-SKI_SMAD_bind	p.G115C	ENST00000380035.2	37	c.343		15	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446174	0.84101	.	.	ENSG00000188779	ENST00000341418;ENST00000554240;ENST00000554054;ENST00000380035;ENST00000389002	D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68	4.83	4.83	0.62350	.	0.055041	0.64402	D	0.000001	D	0.90625	0.7060	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91745	0.5407	10	0.66056	D	0.02	-20.4951	16.5018	0.84259	0.0:0.0:1.0:0.0	.	115	P84550-3	.	C	310;85;96;124;115	ENSP00000343200:G310C;ENSP00000451193:G85C;ENSP00000452361:G96C;ENSP00000369374:G124C;ENSP00000373654:G115C	ENSP00000343200:G310C	G	+	1	0	SKOR1	65905590	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.713000	0.98740	2.220000	0.72140	0.561000	0.74099	GGC	-	HMMPfam_Ski_Sno,superfamily_Putativ_DNA_bind		0.637	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	LBXCOR1	protein_coding	OTTHUMT00000410832.1	G	NM_001031807		65905590	+1	no_errors	NM_001031807.1	genbank	human	provisional	54_36p	missense	SNP	1.000	T
SEMA7A	8482	genome.wustl.edu	37	15	74706985	74706985	+	Silent	SNP	C	C	T	rs149328667	byFrequency	TCGA-AB-2976-03A-01D-0739-09	TCGA-AB-2976-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5bd15984-630f-46a9-a99e-0c24b26f2ed7	fc79912e-0c78-44d9-9951-4b2dfcd349c9	g.chr15:74706985C>T	ENST00000261918.4	-	10	1745	c.1197G>A	c.(1195-1197)acG>acA	p.T399T	SEMA7A_ENST00000542748.1_Silent_p.T234T|SEMA7A_ENST00000543145.2_Silent_p.T385T	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	399	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.T399T(3)		breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						GGAACAATGGCGTCTTCAGAG	0.592													C|||	4	0.000798722	0.003	0.0	5008	,	,		18141	0.0		0.0	False		,,,				2504	0.0					dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	15						C	,,	16,4378	23.3+/-48.9	0,16,2181	89.0	96.0	94.0		1155,702,1197	-10.4	0.1	15	dbSNP_134	94	2,8590	2.2+/-6.3	0,2,4294	no	coding-synonymous,coding-synonymous,coding-synonymous	SEMA7A	NM_001146029.1,NM_001146030.1,NM_003612.3	,,	0,18,6475	TT,TC,CC		0.0233,0.3641,0.1386	,,	385/653,234/502,399/667	74706985	18,12968	2197	4296	6493	72494038	SO:0001819	synonymous_variant	0			AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"""Semaphorins"", ""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10741	protein-coding gene	gene with protein product	"""John Milton Hagen blood group"", ""H-Sema K1"""	607961	"""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A"", ""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"""	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.1197G>A	15.37:g.74706985C>T		649	8.71	62		10	44.44	8	72494038	196	44.19	156	B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Silent	SNP	HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema,HMMPfam_PSI,HMMSmart_IG,HMMSmart_PSI,superfamily_Plexin-like_fold,superfamily_SSF48726	p.T399	ENST00000261918.4	37	c.1197	CCDS10262.1	15																																																																																			-	HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema		0.592	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA7A	protein_coding	OTTHUMT00000272904.3	C	NM_003612		72494038	-1	no_errors	NM_003612.1	genbank	human	reviewed	54_36p	silent	SNP	0.001	T
SDK2	54549	genome.wustl.edu	37	17	71397162	71397162	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2976-03A-01D-0739-09	TCGA-AB-2976-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5bd15984-630f-46a9-a99e-0c24b26f2ed7	fc79912e-0c78-44d9-9951-4b2dfcd349c9	g.chr17:71397162G>T	ENST00000392650.3	-	21	2968	c.2968C>A	c.(2968-2970)Cca>Aca	p.P990T	SDK2_ENST00000388726.3_Missense_Mutation_p.P990T	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	990	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.P990T(3)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CACTTACCTGGGGGCACCCCA	0.642																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	17											33.0	30.0	31.0					17																	71397162		2199	4281	6480	68908757	SO:0001583	missense	0			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.2968C>A	17.37:g.71397162G>T	ENSP00000376421:p.Pro990Thr	778	7.27	61		0	100.00	1	68908757	258	50.38	263	A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	HMMSmart_IGc2,HMMSmart_IG,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,HMMPfam_I-set,HMMPfam_ig,superfamily_SSF48726	p.P669T	ENST00000392650.3	37	c.2005	CCDS45769.1	17	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641812	0.67244	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.63096	-0.02;0.0;1.35	4.68	4.68	0.58851	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.78792	0.4339	M	0.75777	2.31	0.80722	D	1	D;D;D	0.71674	0.992;0.997;0.998	D;D;D	0.79108	0.986;0.981;0.992	T	0.80037	-0.1550	10	0.45353	T	0.12	.	17.6095	0.88048	0.0:0.0:1.0:0.0	.	990;990;990	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	T	614;990;990;166;990	ENSP00000376421:P990T;ENSP00000373378:P990T;ENSP00000407098:P166T	ENSP00000324967:P990T	P	-	1	0	SDK2	68908757	1.000000	0.71417	1.000000	0.80357	0.392000	0.30506	9.710000	0.98732	2.156000	0.67533	0.561000	0.74099	CCA	-	superfamily_FN_III-like		0.642	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	protein_coding	OTTHUMT00000327598.2	G	NM_019064		68908757	-1	no_errors	ENST00000334543	ensembl	human	known	54_36p	missense	SNP	1.000	T
NPM1	4869	genome.wustl.edu	37	5	170837547	170837548	+	Frame_Shift_Ins	INS	-	-	CATG			TCGA-AB-2976-03A-01D-0739-09	TCGA-AB-2976-11A-01D-0739-09	-	-	-	CATG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5bd15984-630f-46a9-a99e-0c24b26f2ed7	fc79912e-0c78-44d9-9951-4b2dfcd349c9	g.chr5:170837547_170837548insCATG	ENST00000296930.5	+	11	1164_1165	c.863_864insCATG	c.(862-867)tggcagfs	p.WQ288fs	NPM1_ENST00000351986.6_Frame_Shift_Ins_p.WQ259fs|NPM1_ENST00000517671.1_Frame_Shift_Ins_p.WQ288fs	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(2114)|p.W288fs*10(9)|p.Q289fs*11(3)|p.W288*(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)			CAAGATCTCTGGCAGTGGAGGA	0.312			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""																																	dbGAP		Dom	yes		5	5q35	4869	"""nucleophosmin (nucleolar phosphoprotein B23, numatrin)"""		L	2127	Insertion - Frameshift(2118)|Complex - frameshift(8)|Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(2127)	5																																								170770153	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.170837547_170837548insCATG	ENSP00000296930:p.Trp288fs	NA	NA	NA		NA	NA	NA	170770152	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.863_864	CCDS4376.1	5																																																																																			-	NULL		0.312	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	-	NM_002520		170770153	+1	no_errors	NM_002520.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	CATG
WT1	7490	genome.wustl.edu	37	11	32417909	32417910	+	Frame_Shift_Ins	INS	-	-	GACCG	rs377446096|rs142937387		TCGA-AB-2976-03A-01D-0739-09	TCGA-AB-2976-11A-01D-0739-09	-	-	-	GACCG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5bd15984-630f-46a9-a99e-0c24b26f2ed7	fc79912e-0c78-44d9-9951-4b2dfcd349c9	g.chr11:32417909_32417910insGACCG	ENST00000379079.2	-	7	779_780	c.506_507insCGGTC	c.(505-507)tcgfs	p.-169fs	WT1_ENST00000448076.3_Frame_Shift_Ins_p.-381fs|WT1_ENST00000332351.3_Frame_Shift_Ins_p.-381fs|WT1_ENST00000530998.1_Frame_Shift_Ins_p.-152fs	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1						adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.A314fs*69(11)|p.S313*(9)|p.S313fs*70(5)|p.A314fs*3(3)|p.A314fs*7(2)|p.V311fs*3(2)|p.A314fs*6(2)|p.S313fs*71(2)|p.L310fs*63(1)|p.P308fs*67(1)|p.S313del(1)|p.A314fs*68(1)|p.S313fs*4(1)|p.T309fs*4(1)|p.S313fs*6(1)|p.?fs(1)|p.A314fs*4(1)|p.A314fs*15(1)|p.S313fs*12(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			TCTCAGATGCCGACCGTACAAG	0.52			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													dbGAP	yes	Rec	yes	"""Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"""	11	11p13	7490	Wilms tumour 1 gene		O	47	Insertion - Frameshift(31)|Substitution - Nonsense(9)|Deletion - Frameshift(3)|Complex - frameshift(3)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(44)|kidney(3)	11	GRCh37	CM971595	WT1	M	rs142937387																																			32374486	SO:0001589	frameshift_variant	0	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"""Zinc fingers, C2H2-type"""	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.502_506dupCGGTC	11.37:g.32417910_32417914dupGACCG	ENSP00000368370:p.Ser169fs	430	2.27272727272727	10		NA	NA	NA	32374485	267	40	178	A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Frame_Shift_Ins	INS	HMMPfam_WT1,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.A382fs	ENST00000379079.2	37	c.1143_1142	CCDS55751.1	11																																																																																			-	HMMPfam_WT1		0.520	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WT1	protein_coding	OTTHUMT00000095434.1	-	NM_000378		32374486	-1	no_errors	NM_024426.3	genbank	human	reviewed	54_36p	frame_shift_ins	INS	0.771:0.996	GACCG
FLT3	2322	genome.wustl.edu	37	13	28608256	28608257	+	In_Frame_Ins	INS	-	-	TCATATTCATATTCATATTCATAT			TCGA-AB-2976-03A-01D-0739-09	TCGA-AB-2976-11A-01D-0739-09	-	-	-	TCATATTCATATTCATATTCATAT	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5bd15984-630f-46a9-a99e-0c24b26f2ed7	fc79912e-0c78-44d9-9951-4b2dfcd349c9	g.chr13:28608256_28608257insTCATATTCATATTCATATTCATAT	ENST00000241453.7	-	14	1880_1881	c.1799_1800insATATGAATATGAATATGAATATGA	c.(1798-1800)gat>gaATATGAATATGAATATGAATATGAt	p.599_600insEYEYEYEY	FLT3_ENST00000380982.4_In_Frame_Ins_p.599_600insEYEYEYEY|FLT3_ENST00000537084.1_In_Frame_Ins_p.599_600insEYEYEYEY	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	599					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.1799_1800insATATGAATATGAATATGAATATGA	13.37:g.28608256_28608257insTCATATTCATATTCATATTCATAT	ENSP00000241453:p.Tyr599_Asp600insGluTyrGluTyrGluTyrGluTyr	449	0.883002207505519	4		NA	NA	NA	27506256	288	26.9035532994924	106	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.600in_frame_insEYEYEYEY	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	TCATATTCATATTCATATTCATAT
LRRC37B	114659	genome.wustl.edu	37	17	30377109	30377110	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AB-2976-03A-01D-0739-09	TCGA-AB-2976-11A-01D-0739-09	-	-	-	T	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5bd15984-630f-46a9-a99e-0c24b26f2ed7	fc79912e-0c78-44d9-9951-4b2dfcd349c9	g.chr17:30377109_30377110insT	ENST00000341671.7	+	11	2769_2770	c.2764_2765insT	c.(2764-2766)attfs	p.I922fs	LRRC37B_ENST00000327564.7_Frame_Shift_Ins_p.I949fs|LRRC37B_ENST00000584368.1_Frame_Shift_Ins_p.I883fs|LRRC37B_ENST00000394713.3_Frame_Shift_Ins_p.I871fs|LRRC37B_ENST00000543378.2_Frame_Shift_Ins_p.I840fs	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	922						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.C924fs*9(3)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TTTGATTATAATTTTTTGTCTT	0.312																																						dbGAP											3	Insertion - Frameshift(3)	haematopoietic_and_lymphoid_tissue(3)	17																																								27401223	SO:0001589	frameshift_variant	0			AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.2770dupT	17.37:g.30377115_30377115dupT	ENSP00000340519:p.Ile922fs	988	5.36	56		9	50.00	9	27401222	560	0.18	1	Q17RC9|Q5YKG6	Frame_Shift_Ins	INS	HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like	p.C924fs	ENST00000341671.7	37	c.2764_2765	CCDS32609.1	17																																																																																			-	NULL		0.312	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37B	protein_coding	OTTHUMT00000446508.1	-	NM_052888		27401223	+1	no_errors	NM_052888.2	genbank	human	validated	54_36p	frame_shift_ins	INS	0.201:0.224	T
