#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_NormalRefReads_WU	i_NormalVAF_WU	i_NormalVarReads_WU	i_ORegAnno_bin	i_RNARefReads_WU	i_RNAVAF_WU	i_RNAVarReads_WU	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Start_position_hg18	i_TumorRefReads_WU	i_TumorVAF_WU	i_TumorVarReads_WU	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
TCEAL6	158931	genome.wustl.edu	37	X	101396171	101396171	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2899-03A-01W-0733-08	TCGA-AB-2899-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	2c9108eb-c59a-4227-b650-56e61b3aa0ea	a29bd0de-862b-4b95-95a7-93b321a3e6ac	g.chrX:101396171C>T	ENST00000372774.3	-	3	382	c.133G>A	c.(133-135)Gag>Aag	p.E45K	TCEAL6_ENST00000372773.1_Missense_Mutation_p.E45K	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	45	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						cgctttccctcgcattctgtc	0.542																																						dbGAP											0			X											134.0	104.0	114.0					X																	101396171		2203	4300	6503	101282827	SO:0001583	missense	0			BC071675	CCDS43978.1	Xq22.1	2014-03-21			ENSG00000204071	ENSG00000204071			24553	protein-coding gene	gene with protein product						16221301	Standard	NM_001006938		Approved	WEX2	uc004eiq.3	Q6IPX3	OTTHUMG00000022050	ENST00000372774.3:c.133G>A	X.37:g.101396171C>T	ENSP00000361860:p.Glu45Lys	Somatic	67	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	101282827	152	42.64	113	Q5H9J8	Missense_Mutation	SNP	HMMPfam_TFA	p.E45K	ENST00000372774.3	37	c.133	CCDS43978.1	X	.	.	.	.	.	.	.	.	.	.	C	11.76	1.734152	0.30684	.	.	ENSG00000204071	ENST00000372774;ENST00000372773;ENST00000536102	T;T	0.23552	1.9;1.9	2.65	-3.45	0.04781	.	1.247550	0.06211	U	0.685098	T	0.15739	0.0379	L	0.37850	1.14	0.09310	N	1	B	0.27117	0.168	B	0.16722	0.016	T	0.24621	-1.0155	10	0.18710	T	0.47	.	6.0303	0.19677	0.0:0.3373:0.4472:0.2155	.	45	Q6IPX3-2	.	K	45	ENSP00000361860:E45K;ENSP00000361859:E45K	ENSP00000361859:E45K	E	-	1	0	TCEAL6	101282827	0.000000	0.05858	0.000000	0.03702	0.531000	0.34715	-1.275000	0.02817	-1.149000	0.02843	0.468000	0.43344	GAG	-	HMMPfam_TFA		0.542	TCEAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEAL6	protein_coding	OTTHUMT00000057609.1	C	NM_001006938		101282827	-1	no_errors	NM_001006938.2	genbank	human	validated	54_36p	missense	SNP	0.010	T
ALG13	79868	genome.wustl.edu	37	X	111003073	111003073	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2899-03A-01W-0733-08	TCGA-AB-2899-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	2c9108eb-c59a-4227-b650-56e61b3aa0ea	a29bd0de-862b-4b95-95a7-93b321a3e6ac	g.chrX:111003073C>T	ENST00000394780.3	+	27	3272	c.3260C>T	c.(3259-3261)cCg>cTg	p.P1087L	ALG13_ENST00000251943.4_Missense_Mutation_p.P904L|ALG13_ENST00000470971.1_3'UTR	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	1087					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						TCCTGCCTTCCGGTTGTGCCA	0.478																																						dbGAP											0			X											111.0	84.0	92.0					X																	111003073		1568	3582	5150	110889729	SO:0001583	missense	0			AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.3260C>T	X.37:g.111003073C>T	ENSP00000378260:p.Pro1087Leu	Somatic	74	5.13	4		24	0.00	0	WXS	Illumina HiSeq	Phase_IV	110889729	60	40.00	40	B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	HMMPfam_OTU,HMMPfam_Glyco_tran_28_C,superfamily_SSF53756,superfamily_SSF54001,superfamily_SSF63748	p.P1087L	ENST00000394780.3	37	c.3260	CCDS55477.1	X	.	.	.	.	.	.	.	.	.	.	c	12.24	1.878256	0.33162	.	.	ENSG00000101901	ENST00000251943;ENST00000394780;ENST00000436609	T;T	0.59772	1.1;0.24	5.8	4.94	0.65067	.	0.135690	0.50627	D	0.000102	T	0.70518	0.3233	L	0.55481	1.735	0.09310	N	0.999994	D;P;D	0.89917	1.0;0.453;1.0	D;B;D	0.69824	0.947;0.048;0.966	T	0.65203	-0.6225	10	0.87932	D	0	-7.2744	13.8471	0.63474	0.0:0.924:0.0:0.076	.	1009;1087;904	Q9NP73-3;Q9NP73;Q9NP73-4	.;ALG13_HUMAN;.	L	904;1087;641	ENSP00000251943:P904L;ENSP00000378260:P1087L	ENSP00000251943:P904L	P	+	2	0	ALG13	110889729	1.000000	0.71417	0.247000	0.24249	0.016000	0.09150	5.278000	0.65592	1.214000	0.43395	0.597000	0.82753	CCG	-	NULL		0.478	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ALG13	protein_coding	OTTHUMT00000272895.1	C	NM_018466		110889729	+1	no_errors	ENST00000394780	ensembl	human	known	54_36p	missense	SNP	0.057	T
SPEG	10290	genome.wustl.edu	37	2	220344734	220344734	+	Silent	SNP	G	G	C			TCGA-AB-2899-03A-01W-0733-08	TCGA-AB-2899-11A-01W-0732-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	2c9108eb-c59a-4227-b650-56e61b3aa0ea	a29bd0de-862b-4b95-95a7-93b321a3e6ac	g.chr2:220344734G>C	ENST00000312358.7	+	25	5346	c.5214G>C	c.(5212-5214)cgG>cgC	p.R1738R	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1738	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGCAGGTGCGGATCTGTGACT	0.577																																						dbGAP											0			2											72.0	81.0	78.0					2																	220344734		2167	4267	6434	220052978	SO:0001819	synonymous_variant	0			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.5214G>C	2.37:g.220344734G>C		Somatic	134	1.47	2		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	220052978	36	49.30	35	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	HMMSmart_SM00219,HMMSmart_SM00220,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,PatternScan_PROTEIN_KINASE_ST,superfamily_Fibronectin type III,superfamily_Protein kinase-like (PK-like),HMMPfam_I-set,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,superfamily_Immunoglobulin	p.R1738	ENST00000312358.7	37	c.5214	CCDS42824.1	2																																																																																			-	HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase		0.577	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	protein_coding	OTTHUMT00000130252.2	G	NM_005876		220052978	+1	no_errors	NM_005876.4	genbank	human	validated	54_36p	silent	SNP	0.999	C
RPS3AP15	652670	genome.wustl.edu	37	3	75591984	75591984	+	lincRNA	SNP	C	C	T			TCGA-AB-2899-03A-01W-0733-08	TCGA-AB-2899-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	2c9108eb-c59a-4227-b650-56e61b3aa0ea	a29bd0de-862b-4b95-95a7-93b321a3e6ac	g.chr3:75591984C>T	ENST00000608389.1	-	0	22																											GGTGCTTTCACATCATACTGA	0.408																																						dbGAP											0			3																																								75674674			0																															3.37:g.75591984C>T		Somatic	62	3.12	2		0	0.00	0	WXS	Illumina HiSeq	Phase_IV	75674674	27	71.58	68		RNA	SNP	-	NULL	ENST00000608389.1	37	NULL		3																																																																																			-	-		0.408	CTD-2026G6.3-001	KNOWN	basic	lincRNA	LOC652670	lincRNA	OTTHUMT00000471516.1	C			75674674	-1	pseudogene	XR_016285.2	genbank	human	model	54_36p	rna	SNP	1.000	T
SLC2A9	56606	genome.wustl.edu	37	4	9998563	9998563	+	Silent	SNP	G	G	A			TCGA-AB-2899-03A-01W-0733-08	TCGA-AB-2899-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	2c9108eb-c59a-4227-b650-56e61b3aa0ea	a29bd0de-862b-4b95-95a7-93b321a3e6ac	g.chr4:9998563G>A	ENST00000264784.3	-	3	305	c.252C>T	c.(250-252)taC>taT	p.Y84Y	SLC2A9_ENST00000506583.1_Silent_p.Y55Y|SLC2A9_ENST00000309065.3_Silent_p.Y55Y	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	84					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	AGGCCTTGATGTACTGAAAAT	0.423																																						dbGAP											0			4											132.0	124.0	126.0					4																	9998563		2203	4300	6503	9607661	SO:0001819	synonymous_variant	0			AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"""Solute carriers"""	13446	protein-coding gene	gene with protein product	"""urate voltage-driven efflux transporter 1"""	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.252C>T	4.37:g.9998563G>A		Somatic	121	4.69	6		7	30.00	3	WXS	Illumina HiSeq	Phase_IV	9607661	55	37.50	33	Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Silent	SNP	HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_1,PatternScan_SUGAR_TRANSPORT_2,superfamily_MFS general substrate transporter	p.Y84	ENST00000264784.3	37	c.252	CCDS3407.1	4																																																																																			-	HMMPfam_Sugar_tr,superfamily_MFS general substrate transporter		0.423	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC2A9	protein_coding	OTTHUMT00000207055.1	G			9607661	-1	no_errors	NM_020041.1	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
DUSP1	1843	genome.wustl.edu	37	5	172195817	172195817	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2899-03A-01W-0733-08	TCGA-AB-2899-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	2c9108eb-c59a-4227-b650-56e61b3aa0ea	a29bd0de-862b-4b95-95a7-93b321a3e6ac	g.chr5:172195817T>C	ENST00000239223.3	-	4	1294	c.1052A>G	c.(1051-1053)aAc>aGc	p.N351S	RP11-779O18.3_ENST00000523005.1_RNA	NM_004417.3	NP_004408.1	P28562	DUS1_HUMAN	dual specificity phosphatase 1	351	Tyrosine-protein phosphatase.				cellular response to hormone stimulus (GO:0032870)|endoderm formation (GO:0001706)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of meiotic cell cycle (GO:0051447)|peptidyl-threonine dephosphorylation (GO:0035970)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of apoptotic process (GO:0043065)|protein dephosphorylation (GO:0006470)|regulation of apoptotic process (GO:0042981)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to light stimulus (GO:0009416)|response to oxidative stress (GO:0006979)|response to retinoic acid (GO:0032526)|response to testosterone (GO:0033574)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)		CAGCGCACTGTTCGTGGAGTG	0.622																																						dbGAP											0			5											104.0	99.0	100.0					5																	172195817		2203	4300	6503	172128423	SO:0001583	missense	0			X68277	CCDS4380.1	5q35.1	2011-06-09			ENSG00000120129	ENSG00000120129		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3064	protein-coding gene	gene with protein product		600714		PTPN10		1406996, 7806236	Standard	NM_004417		Approved	HVH1, CL100, MKP-1	uc003mbv.2	P28562	OTTHUMG00000130523	ENST00000239223.3:c.1052A>G	5.37:g.172195817T>C	ENSP00000239223:p.Asn351Ser	Somatic	45	2.17	1		434	46.23	374	WXS	Illumina HiSeq	Phase_IV	172128423	46	45.88	39	D3DQL9|Q2V508	Missense_Mutation	SNP	HMMPfam_DSPc,HMMPfam_Rhodanese,HMMSmart_RHOD,superfamily_Rhodanese-like,PatternScan_TYR_PHOSPHATASE_1,HMMSmart_DSPc,superfamily_SSF52799	p.N351S	ENST00000239223.3	37	c.1052	CCDS4380.1	5	.	.	.	.	.	.	.	.	.	.	T	6.682	0.494467	0.12702	.	.	ENSG00000120129	ENST00000239223;ENST00000457103;ENST00000434080	T	0.02015	4.5	5.22	3.97	0.46021	.	0.231431	0.44902	D	0.000408	T	0.00724	0.0024	N	0.00347	-1.61	0.31405	N	0.676235	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.29518	-1.0009	10	0.07030	T	0.85	.	11.7463	0.51821	0.0:0.0:0.2293:0.7706	.	351;308	P28562;B4DNT2	DUS1_HUMAN;.	S	351;324;286	ENSP00000239223:N351S	ENSP00000239223:N351S	N	-	2	0	DUSP1	172128423	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.912000	0.69948	2.087000	0.62958	0.533000	0.62120	AAC	-	NULL		0.622	DUSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP1	protein_coding	OTTHUMT00000252943.3	T	NM_004417		172128423	-1	no_errors	NM_004417.2	genbank	human	reviewed	54_36p	missense	SNP	0.996	C
OPN5	221391	genome.wustl.edu	37	6	47776045	47776045	+	Silent	SNP	C	C	T			TCGA-AB-2899-03A-01W-0733-08	TCGA-AB-2899-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	2c9108eb-c59a-4227-b650-56e61b3aa0ea	a29bd0de-862b-4b95-95a7-93b321a3e6ac	g.chr6:47776045C>T	ENST00000371211.2	+	5	940	c.912C>T	c.(910-912)atC>atT	p.I304I	OPN5_ENST00000393699.2_Silent_p.I304I|OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000489301.2_Silent_p.I304I	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5	304					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						ACAATCCCATCATTTACCAAG	0.443																																					Melanoma(28;740 973 10870 42660 45347)	dbGAP											0			6											191.0	181.0	185.0					6																	47776045		2203	4300	6503	47884004	SO:0001819	synonymous_variant	0			AY288419	CCDS4923.1	6p12.3	2012-08-08	2004-01-23		ENSG00000124818	ENSG00000124818		"""GPCR / Class A : Opsin receptors"""	19992	protein-coding gene	gene with protein product	"""neuropsin"""	609042	"""transmembrane protein 13"""	TMEM13		14623103, 14623098	Standard	NR_033806		Approved	neuropsin, dJ402H5.1	uc003ozc.3	Q6U736	OTTHUMG00000014803	ENST00000371211.2:c.912C>T	6.37:g.47776045C>T		Somatic	86	2.27	2		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	47884004	46	32.35	22	A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Silent	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,PatternScan_OPSIN,superfamily_SSF81321	p.I304	ENST00000371211.2	37	c.912	CCDS4923.1	6																																																																																			-	HMMPfam_7tm_1,PatternScan_OPSIN,superfamily_SSF81321		0.443	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPN5	protein_coding	OTTHUMT00000359451.1	C	NM_181744		47884004	+1	no_errors	NM_181744.1	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
IMMP2L	83943	genome.wustl.edu	37	7	110526705	110526705	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2899-03A-01W-0733-08	TCGA-AB-2899-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	2c9108eb-c59a-4227-b650-56e61b3aa0ea	a29bd0de-862b-4b95-95a7-93b321a3e6ac	g.chr7:110526705T>C	ENST00000405709.2	-	5	794	c.352A>G	c.(352-354)Atc>Gtc	p.I118V	IMMP2L_ENST00000415362.1_Missense_Mutation_p.I118V|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000452895.1_Missense_Mutation_p.I118V|IMMP2L_ENST00000450877.1_Missense_Mutation_p.I100V|IMMP2L_ENST00000331762.3_Missense_Mutation_p.I118V	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	118					ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|protein processing involved in protein targeting to mitochondrion (GO:0006627)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial inner membrane peptidase complex (GO:0042720)	peptidase activity (GO:0008233)|serine-type peptidase activity (GO:0008236)			endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		TCAACCCAGATGTGACCACGG	0.398																																						dbGAP											0			7											142.0	129.0	134.0					7																	110526705		2203	4300	6503	110313941	SO:0001583	missense	0			AF359563	CCDS5753.1	7q31	2014-01-06	2005-08-17		ENSG00000184903	ENSG00000184903			14598	protein-coding gene	gene with protein product		605977	"""IMP2 inner mitochondrial membrane protease-like (S. cerevisiae)"", ""IMMP2L intronic transcript 1 (non-protein coding)"""	IMMP2L-IT1		11254443	Standard	NM_032549		Approved	IMP2	uc010ljr.2	Q96T52	OTTHUMG00000155023	ENST00000405709.2:c.352A>G	7.37:g.110526705T>C	ENSP00000384966:p.Ile118Val	Somatic	59	0.00	0		6	25.00	2	WXS	Illumina HiSeq	Phase_IV	110313941	54	29.87	23	Q75MF1|Q75MN9|Q75MP0|Q75MS5|Q75MS8|Q96HJ2	Missense_Mutation	SNP	superfamily_LexA/Signal peptidase,PatternScan_SPASE_I_3,HMMPfam_Peptidase_S24,PatternScan_ATPASE_ALPHA_BETA	p.I118V	ENST00000405709.2	37	c.352	CCDS5753.1	7	.	.	.	.	.	.	.	.	.	.	T	14.09	2.431162	0.43122	.	.	ENSG00000184903	ENST00000405709;ENST00000331762;ENST00000452895;ENST00000450877;ENST00000415362	.	.	.	5.58	5.58	0.84498	Peptidase S24/S26A/S26B/S26C (1);Peptidase S24/S26A/S26B/S26C, beta-ribbon domain (1);Peptidase S26A, signal peptidase I, conserved site (1);	0.323184	0.37715	N	0.001965	T	0.32704	0.0838	N	0.03999	-0.3	0.80722	D	1	B	0.10296	0.003	B	0.11329	0.006	T	0.31447	-0.9943	9	0.02654	T	1	-28.3975	15.7305	0.77800	0.0:0.0:0.0:1.0	.	118	Q96T52	IMP2L_HUMAN	V	118;118;118;100;118	.	ENSP00000329553:I118V	I	-	1	0	IMMP2L	110313941	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.555000	0.53727	2.121000	0.65114	0.397000	0.26171	ATC	-	superfamily_LexA/Signal peptidase,PatternScan_SPASE_I_3		0.398	IMMP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMMP2L	protein_coding	OTTHUMT00000338109.4	T	NM_032549		110313941	-1	no_errors	NM_032549.2	genbank	human	provisional	54_36p	missense	SNP	1.000	C
UBN2	254048	genome.wustl.edu	37	7	138969157	138969157	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2899-03A-01W-0733-08	TCGA-AB-2899-11A-01W-0732-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	2c9108eb-c59a-4227-b650-56e61b3aa0ea	a29bd0de-862b-4b95-95a7-93b321a3e6ac	g.chr7:138969157A>G	ENST00000473989.3	+	15	3506	c.3506A>G	c.(3505-3507)aAt>aGt	p.N1169S	UBN2_ENST00000288561.8_Missense_Mutation_p.N1086S	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1169	Ser-rich.					extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						ATTGCAATGAATGTACCTGCC	0.488																																						dbGAP											0			7											77.0	78.0	78.0					7																	138969157		1964	4160	6124	138619697	SO:0001583	missense	0			AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.3506A>G	7.37:g.138969157A>G	ENSP00000418648:p.Asn1169Ser	Somatic	80	1.23	1		15	51.61	16	WXS	Illumina HiSeq	Phase_IV	138619697	44	40.54	30	A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	PatternScan_TUBULIN	p.N1086S	ENST00000473989.3	37	c.3257	CCDS43655.2	7	.	.	.	.	.	.	.	.	.	.	A	11.65	1.702055	0.30232	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.31769	1.48;1.51	5.64	5.64	0.86602	.	0.062116	0.64402	D	0.000004	T	0.22166	0.0534	L	0.40543	1.245	0.39613	D	0.969916	P	0.34800	0.469	B	0.29862	0.108	T	0.06338	-1.0832	10	0.02654	T	1	-10.0556	16.1449	0.81559	1.0:0.0:0.0:0.0	.	1169	Q6ZU65	UBN2_HUMAN	S	1169;1086	ENSP00000418648:N1169S;ENSP00000288561:N1086S	ENSP00000288561:N1086S	N	+	2	0	UBN2	138619697	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.474000	0.53129	2.269000	0.75478	0.455000	0.32223	AAT	-	NULL		0.488	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBN2	protein_coding	OTTHUMT00000349272.3	A	NM_173569		138619697	+1	no_errors	NM_173569.2	genbank	human	validated	54_36p	missense	SNP	1.000	G
KCNH2	3757	genome.wustl.edu	37	7	150644006	150644006	+	Missense_Mutation	SNP	C	C	T	rs199473030		TCGA-AB-2899-03A-01W-0733-08	TCGA-AB-2899-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	2c9108eb-c59a-4227-b650-56e61b3aa0ea	a29bd0de-862b-4b95-95a7-93b321a3e6ac	g.chr7:150644006C>T	ENST00000262186.5	-	14	3690	c.3289G>A	c.(3289-3291)Gtc>Atc	p.V1097I	KCNH2_ENST00000330883.4_Missense_Mutation_p.V757I|KCNH2_ENST00000392968.2_Missense_Mutation_p.V1001I	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	1097					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	AGGGGGCTGACGGGCAACAGC	0.657													C|||	1	0.000199681	0.0	0.0014	5008	,	,		14303	0.0		0.0	False		,,,				2504	0.0				GBM(137;110 1844 13671 20123 45161)	dbGAP											0			7											58.0	56.0	56.0					7																	150644006		2203	4300	6503	150274939	SO:0001583	missense	0			U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.3289G>A	7.37:g.150644006C>T	ENSP00000262186:p.Val1097Ile	Somatic	25	0.00	0		0	100.00	2	WXS	Illumina HiSeq	Phase_IV	150274939	23	39.47	15	A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	HMMPfam_cNMP_binding,HMMSmart_SM00100,HMMSmart_SM00086,HMMPfam_Ion_trans,HMMPfam_PAS,superfamily_cAMP-binding domain-like,superfamily_PYP-like sensor domain (PAS domain),superfamily_Voltage-gated potassium channels	p.V1097I	ENST00000262186.5	37	c.3289	CCDS5910.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.16|12.16	1.854270|1.854270	0.32791|0.32791	.|.	.|.	ENSG00000055118|ENSG00000055118	ENST00000350328|ENST00000330883;ENST00000392968;ENST00000262186	.|D;D;D	.|0.98550	.|-4.71;-4.78;-4.99	4.12|4.12	3.24|3.24	0.37175|0.37175	.|.	.|0.918511	.|0.09135	.|N	.|0.843846	D|D	0.94384|0.94384	0.8194|0.8194	L|L	0.29908|0.29908	0.895|0.895	0.47905|0.47905	D|D	0.99954|0.99954	.|B;B;P	.|0.37398	.|0.043;0.0;0.593	.|B;B;B	.|0.25614	.|0.007;0.0;0.062	D|D	0.90380|0.90380	0.4387|0.4387	6|10	0.62326|0.39692	D|T	0.03|0.17	.|.	9.6756|9.6756	0.40039|0.40039	0.0:0.8968:0.0:0.1032|0.0:0.8968:0.0:0.1032	.|.	.|1001;1097;757	.|C4PFH9;Q12809;Q12809-2	.|.;KCNH2_HUMAN;.	H|I	373|757;1001;1097	.|ENSP00000328531:V757I;ENSP00000376695:V1001I;ENSP00000262186:V1097I	ENSP00000309393:R373H|ENSP00000262186:V1097I	R|V	-|-	2|1	0|0	KCNH2|KCNH2	150274939|150274939	0.008000|0.008000	0.16893|0.16893	0.785000|0.785000	0.31869|0.31869	0.695000|0.695000	0.40330|0.40330	0.775000|0.775000	0.26689|0.26689	1.098000|1.098000	0.41479|0.41479	0.484000|0.484000	0.47621|0.47621	CGT|GTC	-	NULL		0.657	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH2	protein_coding	OTTHUMT00000350741.2	C	NM_000238		150274939	-1	no_errors	NM_000238.2	genbank	human	reviewed	54_36p	missense	SNP	0.872	T
OIT3	170392	genome.wustl.edu	37	10	74673224	74673224	+	Missense_Mutation	SNP	G	G	A	rs144779514		TCGA-AB-2899-03A-01W-0733-08	TCGA-AB-2899-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	2c9108eb-c59a-4227-b650-56e61b3aa0ea	a29bd0de-862b-4b95-95a7-93b321a3e6ac	g.chr10:74673224G>A	ENST00000334011.5	+	6	1167	c.949G>A	c.(949-951)Gat>Aat	p.D317N		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	317	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					TACAGTGGTCGATGTAGGTTC	0.547																																					Colon(7;19 345 13446 17537)	dbGAP											0			10						G	ASN/ASP	0,4406		0,0,2203	98.0	80.0	86.0		949	4.1	0.3	10	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	missense	OIT3	NM_152635.1	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	317/546	74673224	1,13005	2203	4300	6503	74343230	SO:0001583	missense	0				CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.949G>A	10.37:g.74673224G>A	ENSP00000333900:p.Asp317Asn	Somatic	106	2.75	3		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	74343230	68	49.25	66	A0AVP3|Q8N1M8	Missense_Mutation	SNP	PatternScan_ASX_HYDROXYL,HMMPfam_Zona_pellucida,HMMSmart_SM00241,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_CA,superfamily_EGF/Laminin	p.D317N	ENST00000334011.5	37	c.949	CCDS7318.1	10	.	.	.	.	.	.	.	.	.	.	G	14.76	2.631867	0.46944	0.0	1.16E-4	ENSG00000138315	ENST00000334011;ENST00000415725	D	0.81821	-1.54	5.95	4.11	0.48088	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.303860	0.26903	N	0.021909	T	0.60702	0.2289	N	0.10874	0.06	0.29226	N	0.873629	B	0.11235	0.004	B	0.10450	0.005	T	0.50030	-0.8875	10	0.17832	T	0.49	-12.9222	8.8359	0.35113	0.2788:0.0:0.7212:0.0	.	317	Q8WWZ8	OIT3_HUMAN	N	317	ENSP00000333900:D317N	ENSP00000333900:D317N	D	+	1	0	OIT3	74343230	0.992000	0.36948	0.349000	0.25694	0.975000	0.68041	2.149000	0.42244	0.863000	0.35553	0.655000	0.94253	GAT	-	HMMPfam_Zona_pellucida,HMMSmart_SM00241		0.547	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OIT3	protein_coding	OTTHUMT00000048596.1	G	NM_152635		74343230	+1	no_errors	NM_152635.1	genbank	human	provisional	54_36p	missense	SNP	0.436	A
IKZF4	64375	genome.wustl.edu	37	12	56420653	56420653	+	Silent	SNP	C	C	T			TCGA-AB-2899-03A-01W-0733-08	TCGA-AB-2899-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	2c9108eb-c59a-4227-b650-56e61b3aa0ea	a29bd0de-862b-4b95-95a7-93b321a3e6ac	g.chr12:56420653C>T	ENST00000262032.5	+	8	742	c.375C>T	c.(373-375)agC>agT	p.S125S	IKZF4_ENST00000547167.1_Silent_p.S125S|IKZF4_ENST00000431367.2_Silent_p.S23S|IKZF4_ENST00000548601.1_3'UTR|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547791.1_Silent_p.S80S			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	125					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			AGGACGACAGCGTGATTGTGG	0.602																																						dbGAP											0			12											51.0	55.0	54.0					12																	56420653		2109	4234	6343	54706920	SO:0001819	synonymous_variant	0			AF230809	CCDS44917.1	12q13	2013-01-08	2006-08-25	2006-08-25		ENSG00000123411		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13179	protein-coding gene	gene with protein product		606239	"""zinc finger protein, subfamily 1A, 4 (Eos)"""	ZNFN1A4		10978333	Standard	NM_022465		Approved	Eos	uc001sjc.1	Q9H2S9		ENST00000262032.5:c.375C>T	12.37:g.56420653C>T		Somatic	85	2.30	2		4	0.00	0	WXS	Illumina HiSeq	Phase_IV	54706920	61	30.68	27	Q96JP3	Silent	SNP	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.S125	ENST00000262032.5	37	c.375	CCDS44917.1	12																																																																																			-	NULL		0.602	IKZF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKZF4	protein_coding	OTTHUMT00000407590.1	C	NM_022465		54706920	+1	no_errors	NM_022465.3	genbank	human	validated	54_36p	silent	SNP	0.437	T
SLC7A7	9056	genome.wustl.edu	37	14	23242838	23242838	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2899-03A-01W-0733-08	TCGA-AB-2899-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	2c9108eb-c59a-4227-b650-56e61b3aa0ea	a29bd0de-862b-4b95-95a7-93b321a3e6ac	g.chr14:23242838C>T	ENST00000397532.3	-	10	2042	c.1517G>A	c.(1516-1518)cGg>cAg	p.R506Q	SLC7A7_ENST00000397529.2_Missense_Mutation_p.R506Q|SLC7A7_ENST00000285850.7_Missense_Mutation_p.R506Q|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000554517.1_Missense_Mutation_p.R240Q|SLC7A7_ENST00000555702.1_Missense_Mutation_p.R506Q|SLC7A7_ENST00000397528.4_Missense_Mutation_p.R506Q			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	506					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		TTTGGGATCCCGTTGCTTGGG	0.478																																						dbGAP											0			14											151.0	125.0	134.0					14																	23242838		2203	4300	6503	22312678	SO:0001583	missense	0			AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"""Solute carriers"""	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.1517G>A	14.37:g.23242838C>T	ENSP00000380666:p.Arg506Gln	Somatic	193	1.52	3		39	48.68	37	WXS	Illumina HiSeq	Phase_IV	22312678	117	45.83	99	B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Missense_Mutation	SNP	PatternScan_AMINO_ACID_PERMEASE_1,HMMPfam_AA_permease	p.R506Q	ENST00000397532.3	37	c.1517	CCDS9574.1	14	.	.	.	.	.	.	.	.	.	.	C	0.338	-0.952371	0.02285	.	.	ENSG00000155465	ENST00000285850;ENST00000555702;ENST00000397532;ENST00000404278;ENST00000397529;ENST00000397528;ENST00000554517	D;D;D;D;D;D	0.90844	-2.64;-2.64;-2.64;-2.64;-2.64;-2.74	5.52	-8.7	0.00851	.	4.168150	0.00424	N	0.000065	T	0.69024	0.3065	N	0.00926	-1.1	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.69910	-0.5017	10	0.06625	T	0.88	.	10.6569	0.45680	0.0:0.5827:0.1265:0.2908	.	506	Q9UM01	YLAT1_HUMAN	Q	506;506;506;479;506;506;240	ENSP00000285850:R506Q;ENSP00000451881:R506Q;ENSP00000380666:R506Q;ENSP00000380663:R506Q;ENSP00000380662:R506Q;ENSP00000452083:R240Q	ENSP00000285850:R506Q	R	-	2	0	SLC7A7	22312678	0.000000	0.05858	0.059000	0.19551	0.294000	0.27393	-1.031000	0.03578	-1.499000	0.01821	-1.008000	0.02478	CGG	-	NULL		0.478	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC7A7	protein_coding	OTTHUMT00000071636.3	C			22312678	-1	no_errors	NM_003982.1	genbank	human	reviewed	54_36p	missense	SNP	0.010	T
QRICH2	84074	genome.wustl.edu	37	17	74274238	74274238	+	Missense_Mutation	SNP	T	T	A			TCGA-AB-2899-03A-01W-0733-08	TCGA-AB-2899-11A-01W-0732-08	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	2c9108eb-c59a-4227-b650-56e61b3aa0ea	a29bd0de-862b-4b95-95a7-93b321a3e6ac	g.chr17:74274238T>A	ENST00000262765.5	-	15	4630	c.4451A>T	c.(4450-4452)gAc>gTc	p.D1484V		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1484										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CTGCGCCAGGTCACCCCGAGG	0.637																																						dbGAP											0			17											60.0	61.0	61.0					17																	74274238		2203	4300	6503	71785833	SO:0001583	missense	0			AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.4451A>T	17.37:g.74274238T>A	ENSP00000262765:p.Asp1484Val	Somatic	127	0.76	1		4	20.00	1	WXS	Illumina HiSeq	Phase_IV	71785833	20	28.57	8	A2RRE1|Q96LM3	Missense_Mutation	SNP	NULL	p.D1484V	ENST00000262765.5	37	c.4451	CCDS32741.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.29|19.29	3.799539|3.799539	0.70567|0.70567	.|.	.|.	ENSG00000129646|ENSG00000129646	ENST00000262765|ENST00000532549	T|.	0.11495|.	2.77|.	5.12|5.12	5.12|5.12	0.69794|0.69794	.|.	.|.	.|.	.|.	.|.	T|T	0.63450|0.63450	0.2512|0.2512	M|M	0.65975|0.65975	2.015|2.015	0.43593|0.43593	D|D	0.995941|0.995941	D|.	0.89917|.	1.0|.	D|.	0.79108|.	0.992|.	T|T	0.63817|0.63817	-0.6551|-0.6551	9|5	0.62326|.	D|.	0.03|.	-17.886|-17.886	8.2756|8.2756	0.31871|0.31871	0.1764:0.0:0.0:0.8236|0.1764:0.0:0.0:0.8236	.|.	1484|.	Q9H0J4|.	QRIC2_HUMAN|.	V|S	1484|132	ENSP00000262765:D1484V|.	ENSP00000262765:D1484V|.	D|T	-|-	2|1	0|0	QRICH2|QRICH2	71785833|71785833	0.775000|0.775000	0.28604|0.28604	0.828000|0.828000	0.32881|0.32881	0.827000|0.827000	0.46813|0.46813	4.470000|4.470000	0.60175|0.60175	2.152000|2.152000	0.67230|0.67230	0.402000|0.402000	0.26972|0.26972	GAC|ACC	-	NULL		0.637	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	QRICH2	protein_coding	OTTHUMT00000395140.1	T	NM_032134		71785833	-1	no_errors	NM_032134.1	genbank	human	provisional	54_36p	missense	SNP	0.303	A
SETBP1	26040	genome.wustl.edu	37	18	42531913	42531913	+	Missense_Mutation	SNP	G	G	A	rs267607040		TCGA-AB-2899-03A-01W-0733-08	TCGA-AB-2899-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	2c9108eb-c59a-4227-b650-56e61b3aa0ea	a29bd0de-862b-4b95-95a7-93b321a3e6ac	g.chr18:42531913G>A	ENST00000282030.5	+	4	2904	c.2608G>A	c.(2608-2610)Ggc>Agc	p.G870S		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	870			G -> D (in SGMFS). {ECO:0000269|PubMed:20436468, ECO:0000269|PubMed:23628959}.|G -> R (in AML). {ECO:0000269|PubMed:23889083}.|G -> S (in SGMFS, ACML, MDS and AML; somatic mutation in ACML and other myeloid malignancies; results in higher protein levels; cells expressing this mutant exhibit higher proliferation rates than those expressing the wild-type protein). {ECO:0000269|PubMed:20436468, ECO:0000269|PubMed:23222956, ECO:0000269|PubMed:23628959, ECO:0000269|PubMed:23648668}.|G -> V (in myeloid malignancies). {ECO:0000269|PubMed:23628959}.			nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CAGCGACAGCGGCATTGGGAC	0.557									Schinzel-Giedion syndrome																													dbGAP											0			18											68.0	44.0	52.0					18																	42531913		2203	4300	6503	40785911	SO:0001583	missense	0	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.2608G>A	18.37:g.42531913G>A	ENSP00000282030:p.Gly870Ser	Somatic	81	5.81	5		15	55.88	19	WXS	Illumina HiSeq	Phase_IV	40785911	60	43.40	46	A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	HMMPfam_AT_hook,HMMSmart_AT_hook	p.G816S	ENST00000282030.5	37	c.2446	CCDS11923.2	18	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186940	0.78789	.	.	ENSG00000152217	ENST00000282030	D	0.90504	-2.68	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.93374	0.7887	L	0.34521	1.04	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.93393	0.6753	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	870	Q9Y6X0	SETBP_HUMAN	S	870	ENSP00000282030:G870S	ENSP00000282030:G870S	G	+	1	0	SETBP1	40785911	1.000000	0.71417	0.987000	0.45799	0.879000	0.50718	9.835000	0.99442	2.941000	0.99782	0.655000	0.94253	GGC	-	NULL		0.557	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETBP1	protein_coding	OTTHUMT00000255854.4	G	NM_001130110		40785911	+1	no_errors	NM_015559.1	genbank	human	validated	54_36p	missense	SNP	1.000	A
RUNX1	861	genome.wustl.edu	37	21	36252878	36252878	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2899-03A-01W-0733-08	TCGA-AB-2899-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	2c9108eb-c59a-4227-b650-56e61b3aa0ea	a29bd0de-862b-4b95-95a7-93b321a3e6ac	g.chr21:36252878T>C	ENST00000344691.4	-	2	1980	c.403A>G	c.(403-405)Agg>Ggg	p.R135G	RUNX1_ENST00000325074.5_Missense_Mutation_p.R150G|RUNX1_ENST00000486278.2_Missense_Mutation_p.R138G|RUNX1_ENST00000399240.1_Missense_Mutation_p.R135G|RUNX1_ENST00000300305.3_Missense_Mutation_p.R162G|RUNX1_ENST00000358356.5_Missense_Mutation_p.R135G|RUNX1_ENST00000437180.1_Missense_Mutation_p.R162G	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	135	Interaction with DNA.|Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.R162G(2)|p.N159fs*49(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						CCGACAAACCTGAGGTCATTA	0.438			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																	dbGAP		Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	3	Substitution - Missense(2)|Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(3)	21											120.0	106.0	111.0					21																	36252878		2203	4300	6503	35174748	SO:0001583	missense	0			X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.403A>G	21.37:g.36252878T>C	ENSP00000340690:p.Arg135Gly	Somatic	42	0.00	0		18	94.78	327	WXS	Illumina HiSeq	Phase_IV	35174748	8	66.67	16	A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Missense_Mutation	SNP	superfamily_p53-like transcription factors,HMMPfam_Runt,HMMPfam_RunxI	p.R162G	ENST00000344691.4	37	c.484	CCDS42922.1	21	.	.	.	.	.	.	.	.	.	.	T	21.0	4.083810	0.76642	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399240;ENST00000399245;ENST00000358356;ENST00000399237;ENST00000486278	D;D;D;D;D;D;D;D	0.99711	-6.49;-6.49;-6.49;-6.49;-6.49;-6.49;-6.49;-6.49	5.31	5.31	0.75309	Acute myeloid leukemia 1 (AML 1)/Runt (2);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99629	0.9864	M	0.83483	2.645	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.983;0.976;0.999;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.997;0.987;0.981;0.998;0.999;0.998	D	0.97837	1.0266	10	0.87932	D	0	-23.5262	11.5758	0.50860	0.0:0.0:0.2747:0.7253	.	162;135;135;138;162;150;135	Q2TAM6;Q01196-5;Q01196-3;C9JK12;Q01196-8;Q01196-10;Q01196	.;.;.;.;.;.;RUNX1_HUMAN	G	135;162;162;150;135;138;135;150;138	ENSP00000340690:R135G;ENSP00000300305:R162G;ENSP00000409227:R162G;ENSP00000319459:R150G;ENSP00000382184:R135G;ENSP00000351123:R135G;ENSP00000382182:R150G;ENSP00000438019:R138G	ENSP00000300305:R162G	R	-	1	2	RUNX1	35174748	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.266000	0.43320	2.143000	0.66587	0.533000	0.62120	AGG	-	superfamily_p53-like transcription factors,HMMPfam_Runt		0.438	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	protein_coding	OTTHUMT00000194230.1	T			35174748	-1	no_errors	NM_001754.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
C7	730	genome.wustl.edu	37	5	40981538	40981540	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-AB-2899-03A-01W-0733-08	TCGA-AB-2899-11A-01W-0732-08	GAA	GAA	GAA	-	GAA	GAA	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	2c9108eb-c59a-4227-b650-56e61b3aa0ea	a29bd0de-862b-4b95-95a7-93b321a3e6ac	g.chr5:40981538_40981540delGAA	ENST00000313164.9	+	18	2754_2756	c.2395_2397delGAA	c.(2395-2397)gaadel	p.E800del		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	800	Factor I module (FIM) 2.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				GGAGTGCGAGGAAGAAGGGTTTA	0.522																																						dbGAP											0			5																																								41017297	SO:0001651	inframe_deletion	0			J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.2395_2397delGAA	5.37:g.40981541_40981543delGAA	ENSP00000322061:p.Glu800del	Somatic	0	6.74	6		0	0.00	0	WXS	Illumina HiSeq	Phase_IV	41017295	0	33.04	38	Q6P3T5|Q92489	In_Frame_Del	DEL	HMMPfam_Sushi,HMMSmart_CCP,HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1,HMMPfam_MACPF,HMMSmart_MACPF,PatternScan_MAC_PERFORIN,HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,HMMSmart_FIMAC,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Complement_control_module,superfamily_SSF57196	p.E800in_frame_del	ENST00000313164.9	37	c.2395_2397	CCDS47201.1	5																																																																																			-	HMMSmart_FIMAC		0.522	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7	protein_coding	OTTHUMT00000317680.1	GAA			41017297	+1	no_errors	NM_000587.2	genbank	human	reviewed	54_36p	in_frame_del	DEL	0.054:0.080:0.095	-
