#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
SMC1A	8243	genome.wustl.edu	37	X	53441941	53441941	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2844-03B-01W-0728-08	TCGA-AB-2844-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4d9be233-933e-4375-a92d-ffa0ad9b08c8	6dd909da-225d-49c4-9dd0-fc061c8302d9	g.chrX:53441941C>T	ENST00000322213.4	-	2	414	c.287G>A	c.(286-288)cGt>cAt	p.R96H	SMC1A_ENST00000375340.6_Missense_Mutation_p.R96H	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	96					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TACAATGACACGGGCAAAGGT	0.597													C|||	1	0.000264901	0.0008	0.0	3775	,	,		14510	0.0		0.0	False		,,,				2504	0.0					dbGAP											0			X											64.0	47.0	53.0					X																	53441941		2203	4300	6503	53458666	SO:0001583	missense	0			S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.287G>A	X.37:g.53441941C>T	ENSP00000323421:p.Arg96His	138	7.24	11		1	98.48	65	53458666	2	80.00	8	O14995|Q16351|Q2M228	Missense_Mutation	SNP	HMMPfam_SMC_N,HMMPfam_SMC_hinge,superfamily_SMC_hinge,superfamily_SSF52540	p.R96H	ENST00000322213.4	37	c.287	CCDS14352.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.06|17.06	3.292700|3.292700	0.59976|0.59976	.|.	.|.	ENSG00000072501|ENSG00000072501	ENST00000322213;ENST00000375340;ENST00000340213|ENST00000428014	T;T|.	0.69175|.	-0.38;-0.38|.	4.79|4.79	4.79|4.79	0.61399|0.61399	RecF/RecN/SMC (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81264|0.81264	0.4786|0.4786	H|H	0.94964|0.94964	3.605|3.605	0.30123|0.30123	N|N	0.805528|0.805528	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	T|T	0.82748|0.82748	-0.0304|-0.0304	10|5	0.87932|.	D|.	0|.	.|.	16.0554|16.0554	0.80798|0.80798	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	96;74;96|.	B7Z709;Q6MZR8;Q14683|.	.;.;SMC1A_HUMAN|.	H|M	96|101	ENSP00000323421:R96H;ENSP00000364489:R96H|.	ENSP00000323421:R96H|.	R|V	-|-	2|1	0|0	SMC1A|SMC1A	53458666|53458666	0.993000|0.993000	0.37304|0.37304	0.988000|0.988000	0.46212|0.46212	0.006000|0.006000	0.05464|0.05464	7.647000|7.647000	0.83462|0.83462	2.126000|2.126000	0.65437|0.65437	0.600000|0.600000	0.82982|0.82982	CGT|GTG	-	HMMPfam_SMC_N,superfamily_SSF52540		0.597	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC1A	protein_coding	OTTHUMT00000056756.2	C	NM_006306		53458666	-1	no_errors	NM_006306.2	genbank	human	reviewed	54_36p	missense	SNP	0.998	T
DACH2	117154	genome.wustl.edu	37	X	85415290	85415290	+	Intron	SNP	G	G	A			TCGA-AB-2844-03B-01W-0728-08	TCGA-AB-2844-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4d9be233-933e-4375-a92d-ffa0ad9b08c8	6dd909da-225d-49c4-9dd0-fc061c8302d9	g.chrX:85415290G>A	ENST00000373125.4	+	1	488				DACH2_ENST00000373131.1_Intron	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2						development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						AGCTCCAGCAGCCTTCTGATC	0.483																																						dbGAP											0			X																																								85301946	SO:0001627	intron_variant	0			AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.488+11178G>A	X.37:g.85415290G>A		30	11.76	4		3	0.00	0	85301946	1	96.77	30	B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	HMMPfam_GTP_EFTU,HMMPfam_GTP_EFTU_D3,HMMPfam_GTP_EFTU_D2,superfamily_Translation proteins,superfamily_EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.A352V	ENST00000373125.4	37	c.1055	CCDS14455.1	X																																																																																			-	NULL		0.483	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LOC100130211	protein_coding	OTTHUMT00000359266.1	G	NM_053281		85301946	-1	pseudogene	XM_001717632.1	genbank	human	model	54_36p	missense	SNP	1.000	A
PRPF3	9129	genome.wustl.edu	37	1	150310718	150310718	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2844-03B-01W-0728-08	TCGA-AB-2844-11B-01W-0729-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4d9be233-933e-4375-a92d-ffa0ad9b08c8	6dd909da-225d-49c4-9dd0-fc061c8302d9	g.chr1:150310718T>C	ENST00000324862.6	+	8	1283	c.1118T>C	c.(1117-1119)aTt>aCt	p.I373T	PRPF3_ENST00000414970.2_Missense_Mutation_p.I324T|PRPF3_ENST00000543398.1_Missense_Mutation_p.I238T|PRPF3_ENST00000467329.1_3'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	373					mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		CTTGCCCTCATTGCTCCTAAG	0.433																																					Ovarian(168;1070 2670 5178 20729)	dbGAP											0			1											119.0	106.0	110.0					1																	150310718		2203	4300	6503	148577342	SO:0001583	missense	0			AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"""retinitis pigmentosa 18 (autosomal dominant)"", ""PRP3 pre-mRNA processing factor 3 homolog (yeast)"", ""PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"""	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.1118T>C	1.37:g.150310718T>C	ENSP00000315379:p.Ile373Thr	470	8.30	43		42	50.59	43	148577342	42	50.00	42	B4DSY9|O43446|Q5VT54	Missense_Mutation	SNP	HMMPfam_PWI,HMMSmart_SM00311,HMMPfam_PRP3,superfamily_PWI domain	p.I373T	ENST00000324862.6	37	c.1118	CCDS951.1	1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.675920	0.88445	.	.	ENSG00000117360	ENST00000324862;ENST00000414970;ENST00000543398	D;D;D	0.85013	-1.93;-1.93;-1.93	5.9	4.71	0.59529	Pre-mRNA-splicing factor 3 (1);	0.093695	0.64402	D	0.000001	D	0.88897	0.6562	M	0.82517	2.595	0.80722	D	1	P;P	0.52316	0.952;0.952	P;P	0.61275	0.886;0.816	D	0.87571	0.2478	10	0.30854	T	0.27	-9.8372	12.8311	0.57746	0.0:0.0:0.136:0.864	.	324;373	E7EVD1;O43395	.;PRPF3_HUMAN	T	373;324;238	ENSP00000315379:I373T;ENSP00000387844:I324T;ENSP00000445421:I238T	ENSP00000315379:I373T	I	+	2	0	PRPF3	148577342	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	5.951000	0.70273	2.266000	0.75297	0.528000	0.53228	ATT	-	HMMPfam_PRP3		0.433	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF3	protein_coding	OTTHUMT00000035836.1	T	NM_004698		148577342	+1	no_errors	NM_004698.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
PSME4	23198	genome.wustl.edu	37	2	54128663	54128663	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2844-03B-01W-0728-08	TCGA-AB-2844-11B-01W-0729-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4d9be233-933e-4375-a92d-ffa0ad9b08c8	6dd909da-225d-49c4-9dd0-fc061c8302d9	g.chr2:54128663C>A	ENST00000404125.1	-	28	3164	c.3109G>T	c.(3109-3111)Ggt>Tgt	p.G1037C	PSME4_ENST00000421748.2_Missense_Mutation_p.G181C	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1037					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AAGCACACACCACTGTGATTT	0.438																																						dbGAP											0			2											126.0	121.0	123.0					2																	54128663		2203	4300	6503	53982167	SO:0001583	missense	0			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.3109G>T	2.37:g.54128663C>A	ENSP00000384211:p.Gly1037Cys	96	8.57	9		19	56.82	25	53982167	34	60.92	53	Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	HMMPfam_HEAT,superfamily_ARM repeat	p.G923C	ENST00000404125.1	37	c.2767	CCDS33197.2	2	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269150	0.80469	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.65732	-0.17;-0.17	5.6	5.6	0.85130	Armadillo-like helical (1);Armadillo-type fold (1);	0.049026	0.85682	D	0.000000	T	0.73745	0.3626	L	0.42245	1.32	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;P	0.69479	0.964;0.924;0.848	T	0.72629	-0.4235	10	0.46703	T	0.11	.	19.6148	0.95629	0.0:1.0:0.0:0.0	.	412;181;1037	Q14997-2;Q14997-3;Q14997	.;.;PSME4_HUMAN	C	181;1037	ENSP00000410830:G181C;ENSP00000384211:G1037C	ENSP00000384211:G1037C	G	-	1	0	PSME4	53982167	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.920000	0.70017	2.634000	0.89283	0.557000	0.71058	GGT	-	superfamily_ARM repeat		0.438	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSME4	protein_coding	OTTHUMT00000324163.1	C	XM_040158		53982167	-1	no_errors	NM_014614.2	genbank	human	validated	54_36p	missense	SNP	1.000	A
SENP7	57337	genome.wustl.edu	37	3	101136588	101136588	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AB-2844-03B-01W-0728-08	TCGA-AB-2844-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4d9be233-933e-4375-a92d-ffa0ad9b08c8	6dd909da-225d-49c4-9dd0-fc061c8302d9	g.chr3:101136588G>A	ENST00000394095.2	-	5	384	c.331C>T	c.(331-333)Cga>Tga	p.R111*	SENP7_ENST00000358203.3_Intron|SENP7_ENST00000394094.2_Nonsense_Mutation_p.R111*|SENP7_ENST00000314261.7_Intron|SENP7_ENST00000394091.1_Intron|SENP7_ENST00000348610.3_Nonsense_Mutation_p.R78*	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	111						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)	p.R111G(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTGAATTTTCGTCCTAAATCC	0.373																																						dbGAP											1	Substitution - Missense(1)	breast(1)	3											147.0	143.0	144.0					3																	101136588		1890	4111	6001	102619278	SO:0001587	stop_gained	0				CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.331C>T	3.37:g.101136588G>A	ENSP00000377655:p.Arg111*	116	6.45	8		8	42.86	6	102619278	54	46.53	47	A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Nonsense_Mutation	SNP	HMMPfam_Peptidase_C48,superfamily_Cysteine proteinases	p.R111*	ENST00000394095.2	37	c.331	CCDS2941.2	3	.	.	.	.	.	.	.	.	.	.	G	33	5.221039	0.95139	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000348610	.	.	.	5.52	5.52	0.82312	.	0.000000	0.52532	D	0.000076	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2237	12.6357	0.56683	0.0:0.0:0.7933:0.2067	.	.	.	.	X	111;111;78	.	ENSP00000342159:R78X	R	-	1	2	SENP7	102619278	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.945000	0.56637	2.754000	0.94517	0.650000	0.86243	CGA	-	NULL		0.373	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP7	protein_coding	OTTHUMT00000313957.2	G	NM_020654		102619278	-1	no_errors	NM_020654.1	genbank	human	validated	54_36p	nonsense	SNP	1.000	A
TRA2B	6434	genome.wustl.edu	37	3	185643365	185643365	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2844-03B-01W-0728-08	TCGA-AB-2844-11B-01W-0729-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4d9be233-933e-4375-a92d-ffa0ad9b08c8	6dd909da-225d-49c4-9dd0-fc061c8302d9	g.chr3:185643365G>C	ENST00000453386.2	-	3	495	c.220C>G	c.(220-222)Cgc>Ggc	p.R74G	TRA2B_ENST00000382191.4_5'UTR|TRA2B_ENST00000471134.1_5'Flank	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	74	Arg/Ser-rich (RS1 domain).				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						GAGCGGGAGCGAGACCGTGAC	0.507																																						dbGAP											0			3											125.0	115.0	118.0					3																	185643365		2203	4300	6503	187126059	SO:0001583	missense	0			AF057159	CCDS33905.1, CCDS58872.1	3q26.2-q27	2014-06-13	2009-02-27	2009-02-27	ENSG00000136527	ENSG00000136527		"""RNA binding motif (RRM) containing"""	10781	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 156"""	602719	"""splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila)"""	SFRS10		9790768	Standard	NM_004593		Approved	Htra2-beta, PPP1R156	uc003fpv.3	P62995	OTTHUMG00000156641	ENST00000453386.2:c.220C>G	3.37:g.185643365G>C	ENSP00000416959:p.Arg74Gly	137	5.48	8		150	45.09	124	187126059	31	53.62	37	B4DVK2|D3DNU3|O15449|Q15815|Q64283	Missense_Mutation	SNP	HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD	p.R74G	ENST00000453386.2	37	c.220	CCDS33905.1	3	.	.	.	.	.	.	.	.	.	.	G	19.16	3.774012	0.69992	.	.	ENSG00000136527	ENST00000453386	T	0.40476	1.03	6.17	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.44244	0.1284	M	0.74881	2.28	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.40905	-0.9538	10	0.14656	T	0.56	-2.5224	16.3222	0.82954	0.0:0.1326:0.8674:0.0	.	74;74	B2RDQ3;P62995	.;TRA2B_HUMAN	G	74	ENSP00000416959:R74G	ENSP00000416959:R74G	R	-	1	0	TRA2B	187126059	1.000000	0.71417	0.988000	0.46212	0.980000	0.70556	9.835000	0.99442	1.585000	0.49928	0.655000	0.94253	CGC	-	NULL		0.507	TRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRA2B	protein_coding	OTTHUMT00000344984.1	G	NM_004593		187126059	-1	no_errors	NM_004593.2	genbank	human	validated	54_36p	missense	SNP	1.000	C
PCDHB18	54660	genome.wustl.edu	37	5	140615740	140615740	+	RNA	SNP	C	C	A			TCGA-AB-2844-03B-01W-0728-08	TCGA-AB-2844-11B-01W-0729-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4d9be233-933e-4375-a92d-ffa0ad9b08c8	6dd909da-225d-49c4-9dd0-fc061c8302d9	g.chr5:140615740C>A	ENST00000526308.1	+	0	1803					NR_001281.1		Q96TA0	PCDBI_HUMAN	protocadherin beta 18 pseudogene						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						ACCACGGCTCCCCGGCGCTGA	0.677																																						dbGAP											0			5																																								140595924			0			AF152528		5q31.3	2014-03-20			ENSG00000146001	ENSG00000146001		"""Cadherins / Protocadherins : Clustered"""	14548	pseudogene	pseudogene						10380929	Standard	NR_001281		Approved	PCDH-psi2	uc003ljc.1	Q96TA0	OTTHUMG00000167484		5.37:g.140615740C>A		51	0.00	0		0	0.00	0	140595924	9	50.00	9	B3KTF8	Silent	SNP	HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin	p.S485	ENST00000526308.1	37	c.1455		5																																																																																			-	HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin		0.677	PCDHB18-002	KNOWN	basic	processed_transcript	PCDHB18	pseudogene	OTTHUMT00000394776.1	C			140595924	+1	no_errors	ENST00000274705	ensembl	human	known	54_36p	silent	SNP	0.981	A
MUC17	140453	genome.wustl.edu	37	7	100691294	100691294	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2844-03B-01W-0728-08	TCGA-AB-2844-11B-01W-0729-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4d9be233-933e-4375-a92d-ffa0ad9b08c8	6dd909da-225d-49c4-9dd0-fc061c8302d9	g.chr7:100691294T>C	ENST00000306151.4	+	4	12497	c.12433T>C	c.(12433-12435)Tct>Cct	p.S4145P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4145	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAATACGGCCTCTCGCTGCAA	0.527																																						dbGAP											0			7											142.0	132.0	135.0					7																	100691294		2203	4300	6503	100478014	SO:0001583	missense	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.12433T>C	7.37:g.100691294T>C	ENSP00000302716:p.Ser4145Pro	184	4.06	8		NA	NA	NA	100478014	11	52.17	12	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	HMMPfam_SEA,HMMSmart_SM00200,PatternScan_EGF_1,superfamily_EGF/Laminin,superfamily_SEA domain	p.S4145P	ENST00000306151.4	37	c.12433	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	T	4.594	0.110396	0.08780	.	.	ENSG00000169876	ENST00000306151	T	0.01918	4.56	3.22	-2.9	0.05648	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.01061	0.0035	N	0.08118	0	0.09310	N	1	B	0.22909	0.077	B	0.14023	0.01	T	0.47586	-0.9106	9	0.33141	T	0.24	.	1.1466	0.01776	0.4474:0.2654:0.1377:0.1495	.	4145	Q685J3	MUC17_HUMAN	P	4145	ENSP00000302716:S4145P	ENSP00000302716:S4145P	S	+	1	0	MUC17	100478014	0.000000	0.05858	0.002000	0.10522	0.012000	0.07955	-3.473000	0.00459	-0.246000	0.09611	-0.940000	0.02684	TCT	-	superfamily_EGF/Laminin		0.527	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	protein_coding	OTTHUMT00000347161.1	T	NM_001040105		100478014	+1	no_errors	NM_001040105.1	genbank	human	provisional	54_36p	missense	SNP	0.000	C
SLC18A1	6570	genome.wustl.edu	37	8	20038468	20038468	+	Missense_Mutation	SNP	C	C	T	rs537191588		TCGA-AB-2844-03B-01W-0728-08	TCGA-AB-2844-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4d9be233-933e-4375-a92d-ffa0ad9b08c8	6dd909da-225d-49c4-9dd0-fc061c8302d9	g.chr8:20038468C>T	ENST00000276373.5	-	2	274	c.8G>A	c.(7-9)cGg>cAg	p.R3Q	SLC18A1_ENST00000440926.1_Missense_Mutation_p.R3Q|SLC18A1_ENST00000437980.1_Missense_Mutation_p.R3Q|SLC18A1_ENST00000519026.1_Missense_Mutation_p.R3Q|SLC18A1_ENST00000381608.4_Missense_Mutation_p.R3Q|SLC18A1_ENST00000265808.7_Missense_Mutation_p.R3Q	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	3					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	CAGAATGGTCCGGAGCATGGT	0.612													C|||	1	0.000199681	0.0008	0.0	5008	,	,		13345	0.0		0.0	False		,,,				2504	0.0					dbGAP											0			8											44.0	37.0	39.0					8																	20038468		2199	4296	6495	20082748	SO:0001583	missense	0				CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"""Solute carriers"""	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.8G>A	8.37:g.20038468C>T	ENSP00000276373:p.Arg3Gln	111	7.38	9		NA	NA	NA	20082748	33	38.89	21	E9PDJ5|Q9BRE4	Missense_Mutation	SNP	HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter	p.R3Q	ENST00000276373.5	37	c.8	CCDS6013.1	8	.	.	.	.	.	.	.	.	.	.	C	10.65	1.411071	0.25465	.	.	ENSG00000036565	ENST00000265808;ENST00000276373;ENST00000440926;ENST00000437980;ENST00000519026;ENST00000381608;ENST00000522513	T;T;T;T;T;T;T	0.04360	3.91;3.91;3.91;3.86;3.91;3.86;3.64	5.71	0.233	0.15386	.	0.766204	0.12179	N	0.492234	T	0.02267	0.0070	N	0.08118	0	0.09310	N	1	B;B;B	0.19073	0.033;0.019;0.019	B;B;B	0.06405	0.002;0.002;0.002	T	0.44667	-0.9313	10	0.38643	T	0.18	-1.2454	3.8693	0.09030	0.0:0.3876:0.1854:0.4271	.	3;3;3	E9PB33;E9PDJ5;P54219	.;.;VMAT1_HUMAN	Q	3	ENSP00000265808:R3Q;ENSP00000276373:R3Q;ENSP00000387549:R3Q;ENSP00000413361:R3Q;ENSP00000429664:R3Q;ENSP00000371021:R3Q;ENSP00000428999:R3Q	ENSP00000265808:R3Q	R	-	2	0	SLC18A1	20082748	0.000000	0.05858	0.586000	0.28679	0.187000	0.23431	-0.339000	0.07832	0.350000	0.24002	0.655000	0.94253	CGG	-	NULL		0.612	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A1	protein_coding	OTTHUMT00000214106.1	C			20082748	-1	no_errors	NM_003053.2	genbank	human	validated	54_36p	missense	SNP	0.065	T
SMC5	23137	genome.wustl.edu	37	9	72920272	72920272	+	Missense_Mutation	SNP	A	A	T			TCGA-AB-2844-03B-01W-0728-08	TCGA-AB-2844-11B-01W-0729-08	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4d9be233-933e-4375-a92d-ffa0ad9b08c8	6dd909da-225d-49c4-9dd0-fc061c8302d9	g.chr9:72920272A>T	ENST00000361138.5	+	11	1632	c.1574A>T	c.(1573-1575)aAa>aTa	p.K525I		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	525	Flexible hinge.				cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						GTTTTCCTCAAAGAGGCAAGT	0.308																																						dbGAP											0			9											73.0	77.0	75.0					9																	72920272		2203	4299	6502	72110092	SO:0001583	missense	0			AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"""Structural maintenance of chromosomes proteins"""	20465	protein-coding gene	gene with protein product		609386	"""SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"""	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.1574A>T	9.37:g.72920272A>T	ENSP00000354957:p.Lys525Ile	108	7.50	9		18	50.00	18	72110092	63	45.69	53	A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Missense_Mutation	SNP	HMMPfam_SMC_N,superfamily_SSF52540	p.K525I	ENST00000361138.5	37	c.1574	CCDS6632.1	9	.	.	.	.	.	.	.	.	.	.	A	13.25	2.182461	0.38511	.	.	ENSG00000198887	ENST00000361138	T	0.19806	2.12	5.46	1.86	0.25419	RecF/RecN/SMC (1);	0.676186	0.15455	N	0.261424	T	0.18467	0.0443	L	0.54323	1.7	0.23459	N	0.997634	B	0.09022	0.002	B	0.12837	0.008	T	0.21381	-1.0247	10	0.48119	T	0.1	-13.7895	5.896	0.18939	0.3632:0.0:0.4789:0.158	.	525	Q8IY18	SMC5_HUMAN	I	525	ENSP00000354957:K525I	ENSP00000354957:K525I	K	+	2	0	SMC5	72110092	0.957000	0.32711	0.999000	0.59377	0.998000	0.95712	0.028000	0.13644	0.068000	0.16574	0.533000	0.62120	AAA	-	HMMPfam_SMC_N,superfamily_SSF52540		0.308	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC5	protein_coding	OTTHUMT00000052603.1	A	NM_015110		72110092	+1	no_errors	NM_015110.3	genbank	human	validated	54_36p	missense	SNP	0.794	T
KCNA1	3736	genome.wustl.edu	37	12	5020811	5020811	+	Silent	SNP	C	C	T	rs371963908		TCGA-AB-2844-03B-01W-0728-08	TCGA-AB-2844-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4d9be233-933e-4375-a92d-ffa0ad9b08c8	6dd909da-225d-49c4-9dd0-fc061c8302d9	g.chr12:5020811C>T	ENST00000382545.3	+	2	1374	c.267C>T	c.(265-267)ttC>ttT	p.F89F	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	89					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)	p.F89F(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	GGCCCAGCTTCGACGCCATCC	0.607																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)	12						C		0,4406		0,0,2203	56.0	59.0	58.0		267	3.4	1.0	12		58	1,8599		0,1,4299	no	coding-synonymous	KCNA1	NM_000217.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		89/496	5020811	1,13005	2203	4300	6503	4891072	SO:0001819	synonymous_variant	0			L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.267C>T	12.37:g.5020811C>T		115	7.94	10		NA	NA	NA	4891072	34	42.37	25	A6NM83|Q3MIQ9	Silent	SNP	HMMSmart_BTB,HMMPfam_K_tetra,HMMPfam_Ion_trans,superfamily_BTB/POZ_fold,superfamily_SSF81324	p.F89	ENST00000382545.3	37	c.267	CCDS8535.1	12																																																																																			-	HMMSmart_BTB,HMMPfam_K_tetra,superfamily_BTB/POZ_fold		0.607	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KCNA1	protein_coding	OTTHUMT00000103343.2	C	NM_000217		4891072	+1	no_errors	NM_000217.2	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
FANCM	57697	genome.wustl.edu	37	14	45633583	45633583	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2844-03B-01W-0728-08	TCGA-AB-2844-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4d9be233-933e-4375-a92d-ffa0ad9b08c8	6dd909da-225d-49c4-9dd0-fc061c8302d9	g.chr14:45633583G>A	ENST00000267430.5	+	10	1688	c.1603G>A	c.(1603-1605)Ggt>Agt	p.G535S	FANCM_ENST00000542564.2_Missense_Mutation_p.G509S|FANCM_ENST00000556036.1_Missense_Mutation_p.G535S	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	535	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GTTTCGTGACGGTGGTTACAA	0.368								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													dbGAP											0			14											115.0	113.0	113.0					14																	45633583		2203	4300	6503	44703333	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.1603G>A	14.37:g.45633583G>A	ENSP00000267430:p.Gly535Ser	122	5.38	7		2	60.00	3	44703333	102	41.71	73	B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	HMMPfam_Helicase_C,HMMSmart_SM00490,HMMPfam_ERCC4,superfamily_RuvA domain 2-like,superfamily_Restriction endonuclease-like,HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.G535S	ENST00000267430.5	37	c.1603	CCDS32070.1	14	.	.	.	.	.	.	.	.	.	.	G	35	5.545866	0.96488	.	.	ENSG00000187790	ENST00000556036;ENST00000267430;ENST00000542564	T;T;T	0.08807	3.05;3.05;3.05	6.04	6.04	0.98038	Helicase, C-terminal (3);	0.093862	0.64402	D	0.000001	T	0.35856	0.0946	M	0.84326	2.69	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.02983	-1.1086	10	0.66056	D	0.02	.	20.2347	0.98355	0.0:0.0:1.0:0.0	.	509;535;535	B2RTQ9;Q8IYD8;Q8IYD8-2	.;FANCM_HUMAN;.	S	535;535;509	ENSP00000450596:G535S;ENSP00000267430:G535S;ENSP00000442493:G509S	ENSP00000267430:G535S	G	+	1	0	FANCM	44703333	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.432000	0.97498	2.881000	0.98747	0.650000	0.86243	GGT	-	HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.368	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCM	protein_coding	OTTHUMT00000410474.1	G	XM_048128		44703333	+1	no_errors	NM_020937.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
IGHV4OR15-8	28317	genome.wustl.edu	37	15	22473177	22473177	+	RNA	SNP	T	T	C			TCGA-AB-2844-03B-01W-0728-08	TCGA-AB-2844-11B-01W-0729-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4d9be233-933e-4375-a92d-ffa0ad9b08c8	6dd909da-225d-49c4-9dd0-fc061c8302d9	g.chr15:22473177T>C	ENST00000557788.2	-	0	93							A6NJ16	IV4F8_HUMAN	immunoglobulin heavy variable 4/OR15-8 (non-functional)							extracellular region (GO:0005576)											TCCGAAGGCTTCACCAGTCCT	0.642																																						dbGAP											0			15																																								19974541			0			Z29598		15q11.2	2012-02-20	2008-09-15		ENSG00000259261	ENSG00000259261		"""Immunoglobulins / IGH orphons"""	5658	other	immunoglobulin gene			"""immunoglobulin heavy variable 4/OR15-8"", ""V-set and immunoglobulin domain containing 6"""	VSIG6		7951227	Standard			Approved	IGHV4/OR15-8, IGHV4OR158		A6NJ16	OTTHUMG00000171934		15.37:g.22473177T>C		37	9.76	4		2	0.00	0	19974541	9	47.06	8		Missense_Mutation	SNP	HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin	p.K39E	ENST00000557788.2	37	c.115		15																																																																																			-	HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin		0.642	IGHV4OR15-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	LOC642131	IG_V_gene	OTTHUMT00000415968.2	T			19974541	-1	no_errors	XM_001716834.1	genbank	human	model	54_36p	missense	SNP	0.784	C
MAU2	23383	genome.wustl.edu	37	19	19465222	19465222	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2844-03B-01W-0728-08	TCGA-AB-2844-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4d9be233-933e-4375-a92d-ffa0ad9b08c8	6dd909da-225d-49c4-9dd0-fc061c8302d9	g.chr19:19465222C>T	ENST00000392313.6	+	17	1786	c.1607C>T	c.(1606-1608)tCg>tTg	p.S536L	MAU2_ENST00000262815.8_Missense_Mutation_p.S536L	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	536					maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						CCGGACATGTCGGTACAGCTG	0.622																																						dbGAP											0			19											123.0	92.0	102.0					19																	19465222		2203	4300	6503	19326222	SO:0001583	missense	0			AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"""sister chromatid cohesion 4"""	614560	"""KIAA0892"", ""MAU2 chromatid cohesion factor homolog (C. elegans)"""	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.1607C>T	19.37:g.19465222C>T	ENSP00000376127:p.Ser536Leu	39	0.00	0		50	47.92	46	19326222	8	33.33	4	Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Missense_Mutation	SNP	HMMPfam_Cohesin_load,HMMSmart_SM00028,superfamily_TPR-like	p.S536L	ENST00000392313.6	37	c.1607	CCDS32969.2	19	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552787	0.65425	.	.	ENSG00000129933	ENST00000392313;ENST00000262815	.	.	.	5.5	4.47	0.54385	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.30947	0.0781	N	0.24115	0.695	0.80722	D	1	B;B;P	0.47677	0.026;0.072;0.899	B;B;B	0.40410	0.008;0.025;0.328	T	0.05386	-1.0888	9	0.11182	T	0.66	.	12.9595	0.58449	0.0:0.9214:0.0:0.0786	.	112;141;536	Q9Y6X3-3;Q9Y6X3-2;Q9Y6X3	.;.;SCC4_HUMAN	L	536	.	ENSP00000262815:S536L	S	+	2	0	MAU2	19326222	1.000000	0.71417	0.887000	0.34795	0.756000	0.42949	7.526000	0.81920	1.345000	0.45676	0.561000	0.74099	TCG	-	HMMPfam_Cohesin_load,superfamily_TPR-like		0.622	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0892	protein_coding	OTTHUMT00000316748.6	C	NM_015329		19326222	+1	no_errors	NM_015329.3	genbank	human	validated	54_36p	missense	SNP	0.992	T
VRK3	51231	genome.wustl.edu	37	19	50498516	50498516	+	Silent	SNP	C	C	T			TCGA-AB-2844-03B-01W-0728-08	TCGA-AB-2844-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4d9be233-933e-4375-a92d-ffa0ad9b08c8	6dd909da-225d-49c4-9dd0-fc061c8302d9	g.chr19:50498516C>T	ENST00000599538.1	-	8	1360	c.696G>A	c.(694-696)aaG>aaA	p.K232K	VRK3_ENST00000443401.2_Intron|VRK3_ENST00000594092.1_Silent_p.K232K|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000601912.1_Silent_p.K182K|VRK3_ENST00000594948.1_Silent_p.K232K|VRK3_ENST00000593919.1_Silent_p.K232K|VRK3_ENST00000601341.1_Silent_p.K182K|VRK3_ENST00000316763.3_Silent_p.K232K|VRK3_ENST00000377011.2_Silent_p.K182K			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	232	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		TCGAGTACAGCTTCTTCCACT	0.552																																					Pancreas(6;90 181 4352 12603 17050 34726 35237 44094)	dbGAP											0			19											116.0	89.0	98.0					19																	50498516		2203	4300	6503	55190328	SO:0001819	synonymous_variant	0			AB031052	CCDS12791.1, CCDS33076.1	19q13.33	2011-01-14			ENSG00000105053	ENSG00000105053			18996	protein-coding gene	gene with protein product							Standard	XM_005258971		Approved		uc002prh.1	Q8IV63		ENST00000599538.1:c.696G>A	19.37:g.50498516C>T		305	3.14	10		30	49.15	29	55190328	36	40.98	25	A6NEG5|A8KA53|Q502Y2|Q9P2V8	Silent	SNP	HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like)	p.K232	ENST00000599538.1	37	c.696	CCDS12791.1	19	.	.	.	.	.	.	.	.	.	.	C	5.368	0.253240	0.10185	.	.	ENSG00000105053	ENST00000424804	.	.	.	5.32	4.29	0.51040	.	.	.	.	.	T	0.39708	0.1088	.	.	.	0.20489	N	0.999891	B	0.25390	0.125	B	0.22753	0.041	T	0.37641	-0.9697	7	0.72032	D	0.01	-36.8858	12.0664	0.53590	0.0:0.9172:0.0:0.0828	.	210	E7EMG6	.	N	210	.	ENSP00000402958:S210N	S	-	2	0	VRK3	55190328	0.907000	0.30839	0.996000	0.52242	0.141000	0.21300	1.501000	0.35693	1.636000	0.50526	-0.136000	0.14681	AGC	-	HMMSmart_SM00220		0.552	VRK3-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	VRK3	protein_coding	OTTHUMT00000464815.1	C	NM_016440		55190328	-1	no_errors	NM_016440.1	genbank	human	reviewed	54_36p	silent	SNP	0.991	T
WT1	7490	genome.wustl.edu	37	11	32417910	32417911	+	Frame_Shift_Ins	INS	-	-	ACCGTACA	rs142937387		TCGA-AB-2844-03B-01W-0728-08	TCGA-AB-2844-11B-01W-0729-08	-	-	-	ACCGTACA	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4d9be233-933e-4375-a92d-ffa0ad9b08c8	6dd909da-225d-49c4-9dd0-fc061c8302d9	g.chr11:32417910_32417911insACCGTACA	ENST00000379079.2	-	7	778_779	c.505_506insTGTACGGT	c.(505-507)tcgfs	p.S169fs	WT1_ENST00000530998.1_Frame_Shift_Ins_p.S152fs|WT1_ENST00000448076.3_Frame_Shift_Ins_p.S381fs|WT1_ENST00000332351.3_Frame_Shift_Ins_p.S381fs	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	313					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(7)|p.A314fs*3(3)|p.A314fs*6(2)|p.A314fs*7(2)|p.S313fs*4(2)|p.S313fs*6(2)|p.S313fs*71(2)|p.V311fs*3(2)|p.R301fs*3(1)|p.T309fs*4(1)|p.A314fs*4(1)|p.S313del(1)|p.A314fs*15(1)|p.S313fs*8(1)|p.S313fs*5(1)|p.L310fs*6(1)|p.R312fs*5(1)|p.?fs(1)|p.S313fs*12(1)|p.L310fs*63(1)|p.P308fs*67(1)|p.A314fs*68(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)			CTCAGATGCCGACCGTACAAGA	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	56	Insertion - Frameshift(37)|Substitution - Nonsense(9)|Complex - frameshift(5)|Deletion - Frameshift(4)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(53)|kidney(3)	11	GRCh37	CM971595	WT1	M	rs142937387																																			32374487	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.498_505dupTGTACGGT	11.37:g.32417911_32417918dupACCGTACA	ENSP00000368370:p.Ser169fs	NA	NA	NA		NA	NA	NA	32374486	NA	NA	NA	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.S381fs	ENST00000379079.2	37	c.1142_1141	CCDS55751.1	11																																																																																			-	HMMPfam_WT1		0.520	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WT1	protein_coding	OTTHUMT00000095434.1	-	NM_000378		32374487	-1	no_errors	NM_024426.3	genbank	human	reviewed	54_36p	frame_shift_ins	INS	0.996:0.996	ACCGTACA
FLT3	2322	genome.wustl.edu	37	13	28608214	28608215	+	Intron	INS	-	-	TTACCAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCT			TCGA-AB-2844-03B-01W-0728-08	TCGA-AB-2844-11B-01W-0729-08	-	-	-	TTACCAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCT	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4d9be233-933e-4375-a92d-ffa0ad9b08c8	6dd909da-225d-49c4-9dd0-fc061c8302d9	g.chr13:28608214_28608215insTTACCAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCT	ENST00000241453.7	-	14	1919				FLT3_ENST00000380982.4_Intron|FLT3_ENST00000537084.1_Intron	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3						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)			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)	ACATTCCATTCTTACCAAACTC	0.376			"""Mis, O"""		"""AML, ALL"""																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	0			13																																								27506215	SO:0001627	intron_variant	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1837+3->AGATAATGAGTACTTCTACGTTGATTTCAGAGAATATGAATATGATCTCAAATGGGAGTTTCCAAGAGAAAATTTAGAGTTTGGTAA	13.37:g.28608214_28608215insTTACCAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCT		NA	NA	NA		NA	NA	NA	27506214	NA	NA	NA	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	INS	-	in_frame_ins	ENST00000241453.7	37		CCDS31953.1	13																																																																																			-	-		0.376	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-			27506215	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	0.779:0.796	TTACCAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCT
