#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_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ENSG_ID	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_Ens_Gene	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GMAF	i_HGNC	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_Normal_Alt_Count	i_Normal_Ref_Count	i_Normal_VAF	i_ORegAnno_bin	i_PurityEst	i_RNA_Tum_Ref_count	i_RNA_Tum_VAF	i_RNA_Tum_Var_count	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Tier	i_Tumor_Alt_Count	i_Tumor_Ref_Count	i_Tumor_VAF	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_WGS_Norm_Ref_count	i_WGS_Norm_VAF	i_WGS_Norm_Var_count	i_WGS_Tum_Ref_count	i_WGS_Tum_VAF	i_WGS_Tum_Var_count	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_rs_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
CCDC28A	25901	genome.wustl.edu	37	6	139101104	139101104	+	Missense_Mutation	SNP	G	G	A			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr6:139101104G>A	ENST00000332797.6	+	3	729	c.574G>A	c.(574-576)Gga>Aga	p.G192R		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	192										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		TTTCCACTCTGGAAAACTTCA	0.403																																																	0								ENSG00000024862						90.0	88.0	89.0					6																	139101104		2203	4300	6503	CCDC28A	SO:0001583	missense	0			-	HGNC	AY167571	CCDS5192.1	6q23.1-q24.1	2008-02-05	2005-09-12	2005-09-12	ENSG00000024862	ENSG00000024862			21098	protein-coding gene	gene with protein product		615353	"""chromosome 6 open reading frame 80"""	C6orf80			Standard	NM_015439		Approved	CCRL1AP, DKFZp586D0623	uc003qie.3	Q8IWP9	OTTHUMG00000015683	ENST00000332797.6:c.574G>A	6.37:g.139101104G>A	ENSP00000332716:p.Gly192Arg	Somatic	0	80	0.00		0.5543400997359852	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	46	60	43.40	E1P591|Q32NC7|Q66K67|Q96E23|Q9Y430	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.G192R	ENST00000332797.6	37	c.574	CCDS5192.1	6	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865730	0.91511	.	.	ENSG00000024862	ENST00000332797;ENST00000026464	T	0.76578	-1.03	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.87869	0.6286	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87830	0.2644	10	0.87932	D	0	-24.0377	20.4116	0.99017	0.0:0.0:1.0:0.0	.	192	Q8IWP9	CC28A_HUMAN	R	192;79	ENSP00000332716:G192R	ENSP00000026464:G79R	G	+	1	0	CCDC28A	139142797	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.415000	0.97375	2.827000	0.97445	0.655000	0.94253	GGA	-	NULL		0.403	CCDC28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC28A	protein_coding	OTTHUMT00000042444.1	G	NM_015439	-		139101104	+1	no_errors	ENST00000332797	ensembl	human	known	74_37	missense	SNP	1.000	A
AC006988.1	0	genome.wustl.edu	37	7	88269891	88269892	+	RNA	DEL	TT	TT	-	rs200675201		TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	TT	TT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr7:88269891_88269892delTT	ENST00000390184.1	+	0	57_58																											GAAGGAGCACTTTTTTTTTTTT	0.317																																																	0								ENSG00000211518																																			AC006988.1			0				Clone_based_ensembl_gene																													7.37:g.88269901_88269902delTT		Somatic	0	27	0.00		0.5543400997359852	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	17	10.53		RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000390184.1	37	NULL		7																																																																																			-	-		0.317	AC006988.1-201	NOVEL	basic	miRNA	ENSG00000211518	miRNA		TT				88269892	+1	no_errors	ENST00000390184	ensembl	human	novel	74_37	rna	DEL	0.475:0.436	-
RNF212	285498	genome.wustl.edu	37	4	1087327	1087328	+	Intron	INS	-	-	CTGCCCAGGCTGGAGCCAGCC	rs376912904|rs386670461|rs142232513|rs539986150|rs138488801	byFrequency	TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr4:1087327_1087328insCTGCCCAGGCTGGAGCCAGCC	ENST00000433731.2	-	4	308				RNF212_ENST00000333673.5_In_Frame_Ins_p.241_241S>WLAPAWAA|RNF212_ENST00000382968.5_Intron			Q495C1	RN212_HUMAN	ring finger protein 212						chiasma assembly (GO:0051026)|meiotic gene conversion (GO:0006311)|protein sumoylation (GO:0016925)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		CAGAGCCTGTGACCTCCACGGC	0.619																																																	0								ENSG00000178222																																			RNF212	SO:0001627	intron_variant	0				HGNC	AK096160	CCDS3345.1, CCDS46996.1, CCDS54704.1	4p16.3	2013-02-27	2007-01-19	2007-01-19	ENSG00000178222	ENSG00000178222		"""RING-type (C3HC4) zinc fingers"""	27729	protein-coding gene	gene with protein product		612041	"""hypothetical protein LOC285498"""	LOC285498		23396135	Standard	NM_001131034		Approved	FLJ38841	uc003gcj.3	Q495C1	OTTHUMG00000118997	ENST00000433731.2:c.247-2701->GGCTGGCTCCAGCCTGGGCAG	4.37:g.1087327_1087328insCTGCCCAGGCTGGAGCCAGCC		Somatic	NA	NA	NA		0.5543400997359852	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	C9J8N0|Q495C0|Q86W82|Q8IY99|Q8N8U7	In_Frame_Ins	INS	NA	NA	NA	NA	NA	NA	pfscan_Znf_RING	p.S241in_frame_insWLAPAWAA	ENST00000433731.2	37	c.722_721	CCDS46996.1	4																																																																																			-	NULL		0.619	RNF212-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RNF212	protein_coding	OTTHUMT00000359124.2	-	NM_194439			1087328	-1	no_errors	ENST00000333673	ensembl	human	known	74_37	in_frame_ins	INS	0.085:0.000	CTGCCCAGGCTGGAGCCAGCC
SMTN	6525	genome.wustl.edu	37	22	31500342	31500344	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	ATG	ATG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr22:31500342_31500344delATG	ENST00000347557.2	+	20	2862_2864	c.2644_2646delATG	c.(2644-2646)atgdel	p.M883del	SMTN_ENST00000333137.7_3'UTR|SMTN_ENST00000404574.1_3'UTR|SMTN_ENST00000358743.1_In_Frame_Del_p.M906del|SELM_ENST00000465536.1_5'Flank	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	883	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GGTGGACGACATGATGATCATGG	0.635																																																	0								ENSG00000183963																																			SMTN	SO:0001651	inframe_deletion	0				HGNC	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.2644_2646delATG	22.37:g.31500345_31500347delATG	ENSP00000328635:p.Met883del	Somatic	0	79	0.00		0.5543400997359852	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	51	39.29	O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.M883in_frame_del	ENST00000347557.2	37	c.2644_2646	CCDS13886.1	22																																																																																			-	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.635	SMTN-001	KNOWN	basic|CCDS	protein_coding	SMTN	protein_coding	OTTHUMT00000321766.1	ATG	NM_134270			31500344	+1	no_errors	ENST00000347557	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-
MYO9A	4649	genome.wustl.edu	37	15	72141307	72141307	+	Missense_Mutation	SNP	C	C	T			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr15:72141307C>T	ENST00000356056.5	-	39	7188	c.6716G>A	c.(6715-6717)tGt>tAt	p.C2239Y	MYO9A_ENST00000444904.1_Missense_Mutation_p.C2220Y|MYO9A_ENST00000424560.1_Missense_Mutation_p.C2310Y|MYO9A_ENST00000564571.1_Missense_Mutation_p.C2239Y	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2239	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.|Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CAGTTCCACACAACTGAAACA	0.368																																																	0								ENSG00000066933						71.0	64.0	66.0					15																	72141307		2199	4297	6496	MYO9A	SO:0001583	missense	0			-	HGNC	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.6716G>A	15.37:g.72141307C>T	ENSP00000348349:p.Cys2239Tyr	Somatic	0	84	0.00		0.5543400997359852	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	88	9.28	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.C2310Y	ENST00000356056.5	37	c.6929	CCDS10239.1	15	.	.	.	.	.	.	.	.	.	.	C	12.12	1.844004	0.32606	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	T;T;T	0.41758	0.99;0.99;0.99	5.66	5.66	0.87406	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	.	.	.	.	T	0.71668	0.3367	M	0.86343	2.81	0.80722	D	1	B;D	0.89917	0.007;1.0	B;D	0.87578	0.008;0.998	T	0.75536	-0.3283	9	0.87932	D	0	.	20.1124	0.97915	0.0:1.0:0.0:0.0	.	2239;2003	B2RTY4;B2RTY4-5	MYO9A_HUMAN;.	Y	2239;2310;2220	ENSP00000348349:C2239Y;ENSP00000399162:C2310Y;ENSP00000398250:C2220Y	ENSP00000348349:C2239Y	C	-	2	0	MYO9A	69928361	1.000000	0.71417	1.000000	0.80357	0.087000	0.18053	7.461000	0.80834	2.834000	0.97654	0.655000	0.94253	TGT	-	superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.368	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO9A	protein_coding	OTTHUMT00000257308.1	C	NM_006901	-		72141307	-1	no_errors	ENST00000424560	ensembl	human	known	74_37	missense	SNP	1.000	T
VIPR1	7433	genome.wustl.edu	37	3	42573777	42573777	+	Missense_Mutation	SNP	A	A	T			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr3:42573777A>T	ENST00000325123.4	+	10	1075	c.962A>T	c.(961-963)cAg>cTg	p.Q321L	VIPR1-AS1_ENST00000593621.1_RNA|VIPR1-AS1_ENST00000452639.3_RNA|VIPR1_ENST00000433647.1_Missense_Mutation_p.Q280L|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1_ENST00000543411.1_Missense_Mutation_p.Q273L|VIPR1_ENST00000438259.2_Missense_Mutation_p.Q111L|VIPR1-AS1_ENST00000608869.1_RNA|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1-AS1_ENST00000610022.1_RNA|VIPR1-AS1_ENST00000593611.1_RNA	NM_001251885.1|NM_004624.3	NP_001238814.1|NP_004615.2	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	321					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|muscle contraction (GO:0006936)|positive regulation of cell proliferation (GO:0008284)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		ATCCTGCTTCAGAAACTGCGG	0.562																																																	0								ENSG00000114812						152.0	141.0	145.0					3																	42573777		2203	4300	6503	VIPR1	SO:0001583	missense	0			-	HGNC	AH005329	CCDS2698.1, CCDS58827.1, CCDS58828.1, CCDS58829.1	3p22	2012-08-10			ENSG00000114812	ENSG00000114812		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12694	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 1"""	192321				7708752	Standard	NM_004624		Approved	VPAC1, RDC1, HVR1, VPAC1R	uc003clf.2	P32241	OTTHUMG00000131792	ENST00000325123.4:c.962A>T	3.37:g.42573777A>T	ENSP00000327246:p.Gln321Leu	Somatic	0	31	0.00		0.5543400997359852	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	27	37.21	A5JUT9|B3KPV1|B4DEB5|B4DGI4|F5H1F5|G3V0I1|Q15871|Q6P2M6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_VIP_rcpt_1,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt	p.Q321L	ENST00000325123.4	37	c.962	CCDS2698.1	3	.	.	.	.	.	.	.	.	.	.	A	27.9	4.869302	0.91587	.	.	ENSG00000114812	ENST00000433647;ENST00000543411;ENST00000438259;ENST00000325123	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	4.61	4.61	0.57282	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.53738	0.1815	L	0.52573	1.65	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;0.997;1.0	D;D;D;D	0.91635	0.999;0.997;0.993;0.999	T	0.57556	-0.7791	10	0.87932	D	0	.	14.0142	0.64515	1.0:0.0:0.0:0.0	.	294;111;273;321	B4DNY6;B4DEB5;F5H1F5;P32241	.;.;.;VIPR1_HUMAN	L	280;273;111;321	ENSP00000394950:Q280L;ENSP00000445701:Q273L;ENSP00000415371:Q111L;ENSP00000327246:Q321L	ENSP00000327246:Q321L	Q	+	2	0	VIPR1	42548781	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	1.715000	0.51383	0.533000	0.62120	CAG	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.562	VIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIPR1	protein_coding	OTTHUMT00000254728.4	A	NM_004624	-		42573777	+1	no_errors	ENST00000325123	ensembl	human	known	74_37	missense	SNP	1.000	T
RP11-764K9.1	0	genome.wustl.edu	37	9	68400295	68400295	+	lincRNA	SNP	G	G	A			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr9:68400295G>A	ENST00000417843.2	-	0	1524																											AGGTTTCCCTGGTGGACTGCT	0.542																																																	0								ENSG00000225411																																			RP11-764K9.1			0			-	Clone_based_vega_gene																													9.37:g.68400295G>A		Somatic	0	12	0.00		0.5543400997359852	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	5	50.00		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000417843.2	37	NULL		9																																																																																			-	-		0.542	RP11-764K9.1-001	KNOWN	basic	lincRNA	ENSG00000225411	lincRNA	OTTHUMT00000129817.2	G		-		68400295	-1	no_errors	ENST00000417843	ensembl	human	known	74_37	rna	SNP	0.009	A
CENPE	1062	genome.wustl.edu	37	4	104080391	104080391	+	Missense_Mutation	SNP	C	C	G	rs376748245		TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr4:104080391C>G	ENST00000265148.3	-	22	2466	c.2377G>C	c.(2377-2379)Ggt>Cgt	p.G793R	CENPE_ENST00000380026.3_Missense_Mutation_p.G768R	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	793					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCAAGTAAACCTTGAACTCTA	0.318																																																	0								ENSG00000138778						104.0	105.0	105.0					4																	104080391		2202	4297	6499	CENPE	SO:0001583	missense	0			-	HGNC	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.2377G>C	4.37:g.104080391C>G	ENSP00000265148:p.Gly793Arg	Somatic	0	62	0.00		0.5543400997359852	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	44	16.98	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G793R	ENST00000265148.3	37	c.2377	CCDS34042.1	4	.	.	.	.	.	.	.	.	.	.	c	8.524	0.869503	0.17322	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	T;T;T	0.66280	-0.2;-0.19;0.22	4.88	1.26	0.21427	.	.	.	.	.	T	0.44244	0.1284	L	0.34521	1.04	0.09310	N	1	P;P	0.49961	0.703;0.93	B;B	0.42692	0.395;0.216	T	0.24764	-1.0151	9	0.21540	T	0.41	.	2.7542	0.05288	0.1142:0.5038:0.1112:0.2707	.	768;793	Q02224-3;Q02224	.;CENPE_HUMAN	R	793;793;768;793	ENSP00000265148:G793R;ENSP00000369365:G768R;ENSP00000423981:G793R	ENSP00000265148:G793R	G	-	1	0	CENPE	104299840	0.047000	0.20315	0.991000	0.47740	0.558000	0.35554	0.284000	0.18864	-0.012000	0.14223	-0.745000	0.03516	GGT	-	NULL		0.318	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	protein_coding		C		-		104080391	-1	no_errors	ENST00000265148	ensembl	human	known	74_37	missense	SNP	0.181	G
BPIFA2	140683	genome.wustl.edu	37	20	31763325	31763325	+	Missense_Mutation	SNP	G	G	T	rs73904618	byFrequency	TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr20:31763325G>T	ENST00000253362.2	+	5	669	c.523G>T	c.(523-525)Gcc>Tcc	p.A175S	BPIFA2_ENST00000354932.5_Missense_Mutation_p.A175S			Q96DR5	BPIA2_HUMAN	BPI fold containing family A, member 2	175						extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)										GGGAGAATGCGCCAGTGACCC	0.522																																																	0								ENSG00000131050						188.0	164.0	172.0					20																	31763325		2203	4300	6503	BPIFA2	SO:0001583	missense	0			-	HGNC	AF432917	CCDS13214.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131050	ENSG00000131050		"""BPI fold containing"""	16203	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 70"""	C20orf70		11971875	Standard	NM_080574		Approved	bA49G10.1, SPLUNC2, PSP	uc002wyo.1	Q96DR5	OTTHUMG00000032244	ENST00000253362.2:c.523G>T	20.37:g.31763325G>T	ENSP00000253362:p.Ala175Ser	Somatic	0	66	0.00		0.5543400997359852	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	60	17.81	Q9BQQ0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom	p.A175S	ENST00000253362.2	37	c.523	CCDS13214.1	20	.	.	.	.	.	.	.	.	.	.	G	2.857	-0.236974	0.05944	.	.	ENSG00000131050	ENST00000253362;ENST00000354932	T;T	0.04194	3.68;3.68	4.08	-8.16	0.01061	.	3.835250	0.00424	N	0.000070	T	0.01592	0.0051	N	0.04090	-0.28	0.09310	N	1	B	0.18310	0.027	B	0.18561	0.022	T	0.40646	-0.9552	10	0.02654	T	1	-27.2649	1.4427	0.02357	0.1602:0.2108:0.3639:0.2652	.	175	Q96DR5	BPIA2_HUMAN	S	175	ENSP00000253362:A175S;ENSP00000347012:A175S	ENSP00000253362:A175S	A	+	1	0	BPIFA2	31226986	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.084000	0.00612	-2.218000	0.00730	0.555000	0.69702	GCC	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom		0.522	BPIFA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BPIFA2	protein_coding	OTTHUMT00000257117.1	G	NM_080574	-		31763325	+1	no_errors	ENST00000253362	ensembl	human	known	74_37	missense	SNP	0.000	T
MME	4311	genome.wustl.edu	37	3	154859841	154859841	+	Missense_Mutation	SNP	A	A	T			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr3:154859841A>T	ENST00000460393.1	+	11	1139	c.1019A>T	c.(1018-1020)aAt>aTt	p.N340I	MME_ENST00000492661.1_Missense_Mutation_p.N340I|MME_ENST00000493237.1_Missense_Mutation_p.N340I|MME_ENST00000360490.2_Missense_Mutation_p.N340I|MME_ENST00000462745.1_Missense_Mutation_p.N340I	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	340					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	AGTATTACAAATGAGGAAGAT	0.373																																																	0								ENSG00000196549						112.0	116.0	114.0					3																	154859841		2203	4300	6503	MME	SO:0001583	missense	0			-	HGNC		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1019A>T	3.37:g.154859841A>T	ENSP00000418525:p.Asn340Ile	Somatic	0	67	0.00		0.5543400997359852	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	44	45.68	A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.N340I	ENST00000460393.1	37	c.1019	CCDS3172.1	3	.	.	.	.	.	.	.	.	.	.	A	9.407	1.079467	0.20227	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	T;T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78;-0.78	6.02	3.66	0.41972	Peptidase M13 (1);	0.387744	0.32640	N	0.005822	T	0.60805	0.2297	L	0.38175	1.15	0.34143	D	0.666597	B	0.11235	0.004	B	0.14023	0.01	T	0.59653	-0.7414	10	0.38643	T	0.18	-16.9933	6.311	0.21164	0.7308:0.1336:0.1355:0.0	.	340	P08473	NEP_HUMAN	I	340	ENSP00000420389:N340I;ENSP00000418525:N340I;ENSP00000419653:N340I;ENSP00000417079:N340I;ENSP00000353679:N340I	ENSP00000353679:N340I	N	+	2	0	MME	156342535	1.000000	0.71417	0.953000	0.39169	0.986000	0.74619	4.814000	0.62627	0.529000	0.28599	0.482000	0.46254	AAT	-	pfam_Peptidase_M13_N		0.373	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MME	protein_coding	OTTHUMT00000351076.1	A	NM_000902	-		154859841	+1	no_errors	ENST00000360490	ensembl	human	known	74_37	missense	SNP	0.985	T
P2RY2	5029	genome.wustl.edu	37	11	72946213	72946213	+	Missense_Mutation	SNP	G	G	A			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr11:72946213G>A	ENST00000311131.2	+	3	1476	c.1009G>A	c.(1009-1011)Ggc>Agc	p.G337S	P2RY2_ENST00000393597.2_Missense_Mutation_p.G337S|P2RY2_ENST00000393596.2_Missense_Mutation_p.G337S	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	337					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CCGCAGGCTGGGCCTGCGCAG	0.647																																																	0								ENSG00000175591						33.0	37.0	36.0					11																	72946213		2198	4292	6490	P2RY2	SO:0001583	missense	0			-	HGNC	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.1009G>A	11.37:g.72946213G>A	ENSP00000310305:p.Gly337Ser	Somatic	0	45	0.00		0.5543400997359852	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	38	40.91	B2R9W3|Q96EM8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y2_rcpt,prints_GPCR_Rhodpsn,prints_P2Y4_rcpt	p.G337S	ENST00000311131.2	37	c.1009	CCDS8219.1	11	.	.	.	.	.	.	.	.	.	.	G	10.38	1.335256	0.24253	.	.	ENSG00000175591	ENST00000393597;ENST00000311131;ENST00000393596	T;T;T	0.25749	1.78;1.78;1.78	4.44	3.5	0.40072	.	0.912427	0.09133	N	0.844051	T	0.12390	0.0301	N	0.08118	0	0.32133	N	0.586557	B	0.10296	0.003	B	0.11329	0.006	T	0.20174	-1.0283	10	0.14252	T	0.57	.	7.6562	0.28377	0.1152:0.0:0.8848:0.0	.	337	P41231	P2RY2_HUMAN	S	337	ENSP00000377222:G337S;ENSP00000310305:G337S;ENSP00000377221:G337S	ENSP00000310305:G337S	G	+	1	0	P2RY2	72623861	0.000000	0.05858	1.000000	0.80357	0.562000	0.35680	0.308000	0.19314	2.196000	0.70406	0.561000	0.74099	GGC	-	prints_P2Y2_rcpt		0.647	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY2	protein_coding	OTTHUMT00000397336.1	G	NM_176072	-		72946213	+1	no_errors	ENST00000311131	ensembl	human	known	74_37	missense	SNP	0.965	A
CAPZA1	829	genome.wustl.edu	37	1	113202204	113202208	+	Intron	DEL	CTCTC	CTCTC	-	rs3013438|rs199961772|rs201112561|rs200009640|rs201026165|rs199887112	byFrequency	TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	CTCTC	CTCTC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr1:113202204_113202208delCTCTC	ENST00000263168.3	+	7	1178				CAPZA1_ENST00000476936.1_Intron	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN	capping protein (actin filament) muscle Z-line, alpha 1						actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|WASH complex (GO:0071203)	actin binding (GO:0003779)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTTCTCTCTCTCTCTTTTTTTTTT	0.395																																																	0								ENSG00000116489																																			CAPZA1	SO:0001627	intron_variant	0				HGNC	U56637	CCDS30805.1	1p13.2	2014-05-09			ENSG00000116489	ENSG00000116489			1488	protein-coding gene	gene with protein product		601580				7665558, 9119363	Standard	NM_006135		Approved		uc001ecj.1	P52907	OTTHUMG00000011769	ENST00000263168.3:c.507-115CTCTC>-	1.37:g.113202204_113202208delCTCTC		Somatic	NA	NA	NA		0.5543400997359852	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q53FQ6|Q6FHD5	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000263168.3	37	NULL	CCDS30805.1	1																																																																																			-	-		0.395	CAPZA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPZA1	protein_coding	OTTHUMT00000032567.2	CTCTC	NM_006135			113202208	+1	no_errors	ENST00000466066	ensembl	human	known	74_37	rna	DEL	0.000:0.003:0.004:0.010:0.021	-
STT3A	3703	genome.wustl.edu	37	11	125476332	125476332	+	Missense_Mutation	SNP	C	C	T			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr11:125476332C>T	ENST00000529196.1	+	9	958	c.752C>T	c.(751-753)tCt>tTt	p.S251F	STT3A_ENST00000531491.1_Missense_Mutation_p.S159F|STT3A_ENST00000392708.4_Missense_Mutation_p.S251F			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	251					cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		ACTATACTTTCTATGCAGATC	0.473																																																	0								ENSG00000134910						269.0	242.0	251.0					11																	125476332		2201	4299	6500	STT3A	SO:0001583	missense	0			-	HGNC	BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"""dolichyl-diphosphooligosaccharide protein glycotransferase"""	601134	"""integral membrane protein 1"", ""STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)"", ""STT3A, cataylic subunit of the oligosaccharyltransferase complex"""	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.752C>T	11.37:g.125476332C>T	ENSP00000436962:p.Ser251Phe	Somatic	0	144	0.00		0.5543400997359852	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	66	93	41.25	B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Oligo_trans_STT3	p.S251F	ENST00000529196.1	37	c.752	CCDS8458.1	11	.	.	.	.	.	.	.	.	.	.	C	34	5.381158	0.95945	.	.	ENSG00000134910	ENST00000392708;ENST00000529196;ENST00000531491	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.86564	0.5963	M	0.91406	3.205	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.992;0.992	D	0.87524	0.2448	9	0.56958	D	0.05	-19.8209	20.177	0.98182	0.0:1.0:0.0:0.0	.	159;159;251	B4DJ24;E9PNQ1;P46977	.;.;STT3A_HUMAN	F	251;251;159	.	ENSP00000376472:S251F	S	+	2	0	STT3A	124981542	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.854000	0.98071	0.655000	0.94253	TCT	-	pfam_Oligo_trans_STT3		0.473	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	STT3A	protein_coding	OTTHUMT00000386691.1	C	NM_152713	-		125476332	+1	no_errors	ENST00000392708	ensembl	human	known	74_37	missense	SNP	1.000	T
NPIPA8	101059953	genome.wustl.edu	37	16	18438095	18438095	+	5'UTR	DEL	C	C	-			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr16:18438095delC	ENST00000339303.5	-	0	526				RP11-1212A22.1_ENST00000545152.1_RNA			P0DM63	NPIA8_HUMAN	nuclear pore complex interacting protein family, member A8																		TTGCAGGACACACACTCCAAG	0.622																																																	0								ENSG00000205746																																			RP11-1212A22.1	SO:0001623	5_prime_UTR_variant	0				Clone_based_vega_gene		CCDS61865.1	16p12.3	2013-06-11			ENSG00000214940	ENSG00000214940			41983	protein-coding gene	gene with protein product	"""morpheus gene family member 9"""					11586358	Standard	NM_001282511		Approved	LCR16a9		P0DM63	OTTHUMG00000166284	ENST00000339303.5:c.-3533G>-	16.37:g.18438095delC		Somatic	0	10	0.00		0.5543400997359852	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	6	33.33		RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000339303.5	37	NULL		16																																																																																			-	-		0.622	NPIPA8-201	KNOWN	basic|appris_candidate	protein_coding	ENSG00000205746	protein_coding		C				18438095	-1	no_errors	ENST00000535716	ensembl	human	known	74_37	rna	DEL	1.000	-
ROCK2	9475	genome.wustl.edu	37	2	11364484	11364484	+	Missense_Mutation	SNP	T	T	A			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr2:11364484T>A	ENST00000315872.6	-	7	1419	c.971A>T	c.(970-972)cAt>cTt	p.H324L	ROCK2_ENST00000401753.1_Missense_Mutation_p.H81L	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	324	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		ATTCTTTGCATGTTTGGAAAT	0.318																																																	0								ENSG00000134318						128.0	119.0	122.0					2																	11364484		1830	4082	5912	ROCK2	SO:0001583	missense	0			-	HGNC	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.971A>T	2.37:g.11364484T>A	ENSP00000317985:p.His324Leu	Somatic	0	72	0.00		0.5543400997359852	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	78	12.36	Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_dom,pfam_Rho-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.H324L	ENST00000315872.6	37	c.971	CCDS42654.1	2	.	.	.	.	.	.	.	.	.	.	T	16.78	3.218801	0.58560	.	.	ENSG00000134318	ENST00000315872;ENST00000401753;ENST00000431087	T;T;T	0.64260	-0.09;-0.09;-0.09	5.71	4.52	0.55395	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.178204	0.51477	D	0.000091	T	0.38983	0.1061	N	0.02202	-0.64	0.42692	D	0.993588	B	0.27971	0.196	B	0.32533	0.147	T	0.32955	-0.9887	10	0.38643	T	0.18	.	12.8476	0.57839	0.0:0.0:0.1363:0.8637	.	324	O75116	ROCK2_HUMAN	L	324;81;151	ENSP00000317985:H324L;ENSP00000385509:H81L;ENSP00000395957:H151L	ENSP00000261535:H324L	H	-	2	0	ROCK2	11281935	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.271000	0.72569	0.940000	0.37473	0.402000	0.26972	CAT	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Prot_kinase_dom		0.318	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROCK2	protein_coding	OTTHUMT00000313886.3	T		-		11364484	-1	no_errors	ENST00000315872	ensembl	human	known	74_37	missense	SNP	1.000	A
DPEP1	1800	genome.wustl.edu	37	16	89702773	89702773	+	Silent	SNP	G	G	A	rs374005684		TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr16:89702773G>A	ENST00000393092.3	+	4	630	c.339G>A	c.(337-339)ccG>ccA	p.P113P	DPEP1_ENST00000421184.1_Silent_p.P113P|DPEP1_ENST00000261615.4_Silent_p.P113P	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	113					antibiotic metabolic process (GO:0016999)|arachidonic acid metabolic process (GO:0019369)|cellular lactam catabolic process (GO:0072340)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to nitric oxide (GO:0071732)|glutathione metabolic process (GO:0006749)|homocysteine metabolic process (GO:0050667)|leukotriene metabolic process (GO:0006691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dipeptidyl-peptidase activity (GO:0008239)|GPI anchor binding (GO:0034235)|metallodipeptidase activity (GO:0070573)|metalloexopeptidase activity (GO:0008235)|modified amino acid binding (GO:0072341)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	GGATGTACCCGGAGACCTTCC	0.632																																																	0								ENSG00000015413		,	0,4372		0,0,2186	67.0	53.0	58.0		339,339	-10.8	0.0	16		58	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous,coding-synonymous	DPEP1	NM_001128141.1,NM_004413.3	,	0,1,6479	AA,AG,GG		0.0116,0.0,0.0077	,	113/412,113/412	89702773	1,12959	2186	4294	6480	DPEP1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS10982.1	16q24	2011-07-22			ENSG00000015413	ENSG00000015413	3.4.13.19		3002	protein-coding gene	gene with protein product		179780					Standard	NM_004413		Approved		uc002fnr.4	P16444	OTTHUMG00000138052	ENST00000393092.3:c.339G>A	16.37:g.89702773G>A		Somatic	0	67	0.00		0.5543400997359852	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	37	47.14	D3DX80|Q96AK2	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Peptidase_M19	p.P113	ENST00000393092.3	37	c.339	CCDS10982.1	16																																																																																			-	pfam_Peptidase_M19		0.632	DPEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DPEP1	protein_coding	OTTHUMT00000423058.1	G	NM_001128141	-		89702773	+1	no_errors	ENST00000261615	ensembl	human	known	74_37	silent	SNP	0.001	A
PZP	5858	genome.wustl.edu	37	12	9311088	9311088	+	Silent	SNP	C	C	T			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr12:9311088C>T	ENST00000261336.2	-	26	3250	c.3222G>A	c.(3220-3222)acG>acA	p.T1074T	PZP_ENST00000539983.1_5'Flank|PZP_ENST00000381997.2_Silent_p.T860T	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1074					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GGGAGAGCCACGTGAGAGATT	0.488																																					Melanoma(125;1402 1695 4685 34487 38571)												0								ENSG00000126838						190.0	175.0	180.0					12																	9311088		2203	4300	6503	PZP	SO:0001819	synonymous_variant	0			-	HGNC	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.3222G>A	12.37:g.9311088C>T		Somatic	0	97	0.00		0.5543400997359852	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	54	69	43.90	A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.T1074	ENST00000261336.2	37	c.3222	CCDS8600.1	12																																																																																			-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase		0.488	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PZP	protein_coding	OTTHUMT00000337624.1	C	NM_002864	-		9311088	-1	no_errors	ENST00000261336	ensembl	human	known	74_37	silent	SNP	0.026	T
TP53	7157	genome.wustl.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGGCGGCTCATAGGGCACCAC	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	GRCh37	CM015378|CM951227	TP53	M	rs121912666	ENSG00000141510						102.0	94.0	97.0					17																	7578190		2203	4300	6503	TP53	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	-	HGNC	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys	Somatic	0	60	0.00		0.5543400997359852	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	11	65.62	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.Y220C	ENST00000269305.4	37	c.659	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	T	NM_000546	-		7578190	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	0.998	C
VN1R2	317701	genome.wustl.edu	37	19	53762741	53762741	+	Missense_Mutation	SNP	C	C	G			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr19:53762741C>G	ENST00000341702.3	+	1	1197	c.1113C>G	c.(1111-1113)gaC>gaG	p.D371E	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	371					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TGTGCCGTGACCCCAGCAGAT	0.443																																																	0								ENSG00000196131						157.0	149.0	152.0					19																	53762741		2203	4300	6503	VN1R2	SO:0001583	missense	0			-	HGNC	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.1113C>G	19.37:g.53762741C>G	ENSP00000351244:p.Asp371Glu	Somatic	0	77	0.00		0.5543400997359852	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	42	46.15	A1L411|Q8TDU4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Vmron_rcpt_1,pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1	p.D371E	ENST00000341702.3	37	c.1113	CCDS12862.1	19	.	.	.	.	.	.	.	.	.	.	C	13.59	2.282942	0.40394	.	.	ENSG00000196131	ENST00000341702	T	0.37584	1.19	2.94	0.665	0.17896	.	.	.	.	.	T	0.39306	0.1073	L	0.57130	1.785	0.09310	N	1	P	0.39022	0.655	P	0.47786	0.557	T	0.28004	-1.0057	9	0.41790	T	0.15	.	5.0924	0.14715	0.2229:0.5091:0.268:0.0	.	371	Q8NFZ6	VN1R2_HUMAN	E	371	ENSP00000351244:D371E	ENSP00000351244:D371E	D	+	3	2	VN1R2	58454553	0.076000	0.21285	0.004000	0.12327	0.038000	0.13279	0.262000	0.18460	0.275000	0.22094	0.596000	0.82720	GAC	-	prints_Vmron_rcpt_1		0.443	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VN1R2	protein_coding	OTTHUMT00000464285.1	C	NM_173856	-		53762741	+1	no_errors	ENST00000341702	ensembl	human	known	74_37	missense	SNP	0.005	G
ZMYND12	84217	genome.wustl.edu	37	1	42914153	42914153	+	Missense_Mutation	SNP	C	C	A			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr1:42914153C>A	ENST00000372565.3	-	3	678	c.409G>T	c.(409-411)Gcc>Tcc	p.A137S	ZMYND12_ENST00000433602.2_Intron	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	137						intracellular (GO:0005622)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTGGCCTCGGCCAACAGCAGG	0.527																																																	0								ENSG00000066185						62.0	57.0	59.0					1																	42914153		2203	4300	6503	ZMYND12	SO:0001583	missense	0			-	HGNC	AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"""Zinc fingers, MYND-type"""	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.409G>T	1.37:g.42914153C>A	ENSP00000361646:p.Ala137Ser	Somatic	0	45	0.00		0.5543400997359852	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	24	59.32	Q5VUS6|Q8TC87|Q96M51	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_MYND,pfscan_Znf_MYND	p.A137S	ENST00000372565.3	37	c.409	CCDS467.1	1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.352517	0.41700	.	.	ENSG00000066185	ENST00000372565	T	0.71461	-0.57	5.34	-1.03	0.10102	Tetratricopeptide-like helical (1);	0.164898	0.52532	N	0.000065	T	0.56202	0.1969	L	0.39085	1.19	0.50467	D	0.999874	B	0.18461	0.028	B	0.15052	0.012	T	0.49643	-0.8918	10	0.59425	D	0.04	-2.3795	10.6475	0.45628	0.4562:0.4396:0.1041:0.0	.	137	Q9H0C1	ZMY12_HUMAN	S	137	ENSP00000361646:A137S	ENSP00000361646:A137S	A	-	1	0	ZMYND12	42686740	0.998000	0.40836	0.814000	0.32528	0.946000	0.59487	0.980000	0.29513	-0.036000	0.13669	0.561000	0.74099	GCC	-	NULL		0.527	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYND12	protein_coding	OTTHUMT00000019170.1	C	NM_032257	-		42914153	-1	no_errors	ENST00000372565	ensembl	human	known	74_37	missense	SNP	0.338	A
PCNXL3	399909	genome.wustl.edu	37	11	65381016	65381016	+	5'Flank	SNP	A	A	T			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr11:65381016A>T	ENST00000355703.3	+	0	0				MAP3K11_ENST00000309100.3_Missense_Mutation_p.L71Q|MAP3K11_ENST00000530153.1_5'Flank	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)							integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GTCCCGGGACAGCACCTCCAC	0.667																																																	0								ENSG00000173327						57.0	47.0	50.0					11																	65381016		2201	4297	6498	MAP3K11	SO:0001631	upstream_gene_variant	0			-	HGNC	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539		11.37:g.65381016A>T	Exception_encountered	Somatic	0	53	0.00		0.5543400997359852	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	Q6MZN8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom	p.L71Q	ENST00000355703.3	37	c.212	CCDS44650.1	11	.	.	.	.	.	.	.	.	.	.	A	24.3	4.514775	0.85389	.	.	ENSG00000173327	ENST00000309100	T	0.40225	1.04	4.83	4.83	0.62350	Src homology-3 domain (4);Variant SH3 (1);	0.000000	0.56097	D	0.000027	T	0.63212	0.2492	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.67753	-0.5589	10	0.87932	D	0	.	12.3509	0.55146	1.0:0.0:0.0:0.0	.	71	Q16584	M3K11_HUMAN	Q	71	ENSP00000309597:L71Q	ENSP00000309597:L71Q	L	-	2	0	MAP3K11	65137592	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.006000	0.70724	1.813000	0.52934	0.533000	0.62120	CTG	-	pirsf_MAPKKK9/10/11,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,prints_SH3_domain,pfscan_SH3_domain		0.667	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K11	protein_coding	OTTHUMT00000390321.1	A	NM_032223	-		65381016	-1	no_errors	ENST00000309100	ensembl	human	known	74_37	missense	SNP	1.000	T
PRAMEF2	65122	genome.wustl.edu	37	1	12921627	12921627	+	Missense_Mutation	SNP	G	G	A			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr1:12921627G>A	ENST00000240189.2	+	4	1505	c.1418G>A	c.(1417-1419)tGc>tAc	p.C473Y		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	473					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCATCTTTGCTGCTAGGGA	0.517																																																	0								ENSG00000120952						13.0	16.0	15.0					1																	12921627		2008	4108	6116	PRAMEF2	SO:0001583	missense	0			-	HGNC		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.1418G>A	1.37:g.12921627G>A	ENSP00000240189:p.Cys473Tyr	Somatic	0	229	0.00		0.5543400997359852	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	114	14.93		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.C473Y	ENST00000240189.2	37	c.1418	CCDS149.1	1	.	.	.	.	.	.	.	.	.	.	G	8.793	0.930939	0.18131	.	.	ENSG00000120952	ENST00000240189	T	0.03124	4.04	0.558	0.558	0.17266	.	1.432400	0.04998	N	0.468627	T	0.17023	0.0409	M	0.78456	2.415	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.14172	-1.0482	9	0.44086	T	0.13	.	.	.	.	.	473	O60811	PRAM2_HUMAN	Y	473	ENSP00000240189:C473Y	ENSP00000240189:C473Y	C	+	2	0	PRAMEF2	12844214	0.001000	0.12720	0.005000	0.12908	0.036000	0.12997	-0.054000	0.11826	0.552000	0.29026	0.173000	0.16961	TGC	-	NULL		0.517	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF2	protein_coding	OTTHUMT00000005517.1	G	NM_023014	-		12921627	+1	no_errors	ENST00000240189	ensembl	human	known	74_37	missense	SNP	0.005	A
CASP5	838	genome.wustl.edu	37	11	104878041	104878041	+	Frame_Shift_Del	DEL	T	T	-	rs144697764		TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr11:104878041delT	ENST00000260315.3	-	3	201	c.202delA	c.(202-204)acafs	p.T68fs	CASP5_ENST00000526056.1_Frame_Shift_Del_p.T81fs|CASP5_ENST00000444749.2_Frame_Shift_Del_p.T10fs|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000393139.2_Frame_Shift_Del_p.T35fs|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000393141.2_Frame_Shift_Del_p.T81fs			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	68	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)	p.T52fs*26(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		ATCTTAACTGTTTTTTTTTTG	0.358																																																	1	Deletion - Frameshift(1)	ovary(1)						ENSG00000137757		,,,	386,251,42,3585		1,0,1,383,0,0,251,0,41,1455	104.0	101.0	102.0		,,,	-2.3	0.0	11	dbSNP_132	106	651,407,1,7195		0,0,0,651,0,0,407,0,1,3068	no	codingComplex,codingComplex,intron,codingComplex	CASP5	NM_004347.3,NM_001136112.1,NM_001136110.1,NM_001136109.1	,,,	1,0,1,1034,0,0,658,0,42,4523	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		12.8301,15.924,13.884	,,,	,,,	104878041	1037,658,43,10780	2202	4299	6501	CASP5	SO:0001589	frameshift_variant	0				HGNC		CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.202delA	11.37:g.104878041delT	ENSP00000260315:p.Thr68fs	Somatic	0	42	0.00		0.5543400997359852	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	31	16.22	B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.T81fs	ENST00000260315.3	37	c.241	CCDS8328.2	11																																																																																			-	pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pirsf_Caspase_IL-1_beta,pfscan_CARD		0.358	CASP5-001	KNOWN	basic|CCDS	protein_coding	CASP5	protein_coding	OTTHUMT00000109397.2	T	NM_004347			104878041	-1	no_errors	ENST00000393141	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-
ARHGEF25	115557	genome.wustl.edu	37	12	58007532	58007532	+	Missense_Mutation	SNP	C	C	A	rs147980194		TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr12:58007532C>A	ENST00000286494.4	+	5	1001	c.541C>A	c.(541-543)Cag>Aag	p.Q181K	ARHGEF25_ENST00000333972.7_Missense_Mutation_p.Q220K|AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000610219.1_RNA|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	181	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						CGACTTGGGGCAGATTGTGGA	0.567													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19515	0.0		0.0	False		,,,				2504	0.0																0								ENSG00000240771	C	LYS/GLN,LYS/GLN	2,4404	4.2+/-10.8	0,2,2201	135.0	132.0	133.0		658,541	3.8	1.0	12	dbSNP_134	133	0,8600		0,0,4300	no	missense,missense	ARHGEF25	NM_001111270.1,NM_182947.2	53,53	0,2,6501	AA,AC,CC		0.0,0.0454,0.0154	benign,benign	220/620,181/581	58007532	2,13004	2203	4300	6503	ARHGEF25	SO:0001583	missense	0			-	HGNC		CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"""Rho guanine nucleotide exchange factors"""	30275	protein-coding gene	gene with protein product	"""RAC/CDC42 exchange factor"""	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.541C>A	12.37:g.58007532C>A	ENSP00000286494:p.Gln181Lys	Somatic	0	60	0.00		0.5543400997359852	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	49	23.44	A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.Q220K	ENST00000286494.4	37	c.658	CCDS8947.1	12	.	.	.	.	.	.	.	.	.	.	c	14.57	2.575170	0.45902	4.54E-4	0.0	ENSG00000240771	ENST00000333972;ENST00000300189;ENST00000286494	T;T	0.62639	0.01;0.01	4.72	3.81	0.43845	Dbl homology (DH) domain (5);	0.236312	0.22224	N	0.062906	T	0.45975	0.1369	N	0.25245	0.725	0.44395	D	0.997309	B;B;B	0.15141	0.001;0.0;0.012	B;B;B	0.17098	0.004;0.004;0.017	T	0.36915	-0.9728	10	0.28530	T	0.3	.	11.5694	0.50824	0.0:0.91:0.0:0.09	.	220;181;55	F8W7Z4;Q86VW2;Q96M35	.;ARHGP_HUMAN;.	K	220;55;181	ENSP00000335560:Q220K;ENSP00000286494:Q181K	ENSP00000286494:Q181K	Q	+	1	0	ARHGEF25	56293799	0.953000	0.32496	1.000000	0.80357	0.992000	0.81027	1.521000	0.35910	2.338000	0.79540	0.563000	0.77884	CAG	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.567	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	ARHGEF25	protein_coding	OTTHUMT00000326561.1	C	NM_133483	rs147980194		58007532	+1	no_errors	ENST00000333972	ensembl	human	known	74_37	missense	SNP	1.000	A
RIMS2	9699	genome.wustl.edu	37	8	104863873	104863880	+	Intron	DEL	ACACACAC	ACACACAC	-	rs56306101|rs10529078|rs369439768|rs59712615	byFrequency	TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	ACACACAC	ACACACAC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr8:104863873_104863880delACACACAC	ENST00000507740.1	+	1	358				AP001572.1_ENST00000401294.1_RNA|RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000522174.1_Intron|RIMS2_ENST00000406091.3_Intron	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2						calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AATGCTATGTacacacacacacacacac	0.365										HNSCC(12;0.0054)																																							0								ENSG00000216113																																			AP001572.1	SO:0001627	intron_variant	0				Clone_based_ensembl_gene	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000507740.1:c.122+32016ACACACAC>-	8.37:g.104863881_104863888delACACACAC		Somatic	NA	NA	NA		0.5543400997359852	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000507740.1	37	NULL	CCDS43761.1	8																																																																																			-	-		0.365	RIMS2-005	NOVEL	basic|CCDS	protein_coding	ENSG00000216113	protein_coding	OTTHUMT00000367215.1	ACACACAC	NM_001100117			104863880	+1	no_errors	ENST00000401294	ensembl	human	novel	74_37	rna	DEL	0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000	-
RP11-764K9.1	0	genome.wustl.edu	37	9	68400476	68400476	+	lincRNA	SNP	G	G	C			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr9:68400476G>C	ENST00000417843.2	-	0	1343																											AGGCCACAGTGTGGACtgttg	0.483																																																	0								ENSG00000225411																																			RP11-764K9.1			0			-	Clone_based_vega_gene																													9.37:g.68400476G>C		Somatic	0	29	0.00		0.5543400997359852	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	23	11.54		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000417843.2	37	NULL		9																																																																																			-	-		0.483	RP11-764K9.1-001	KNOWN	basic	lincRNA	ENSG00000225411	lincRNA	OTTHUMT00000129817.2	G		-		68400476	-1	no_errors	ENST00000417843	ensembl	human	known	74_37	rna	SNP	0.009	C
HOXA10	3206	genome.wustl.edu	37	7	27208712	27208713	+	IGR	INS	-	-	GT	rs570068402|rs57482287|rs368845025|rs67408369		TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr7:27208712_27208713insGT	ENST00000283921.4	-	0	2541				HOXA10_ENST00000521421.1_5'Flank|HOXA-AS4_ENST00000523790.1_RNA|RP1-170O19.20_ENST00000465941.1_Intron|HOXA9_ENST00000497089.1_Intron|HOXA-AS4_ENST00000519694.1_RNA|MIR196B_ENST00000384852.1_RNA|HOXA-AS4_ENST00000519935.1_RNA|RP1-170O19.20_ENST00000470747.4_Intron	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN	homeobox A10						anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|male gonad development (GO:0008584)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						ACCCGGGACTGgtgtgtgtgtg	0.589																																																	0								ENSG00000253187																																			HOXA-AS4	SO:0001628	intergenic_variant	0				HGNC		CCDS5410.2	7p15.2	2011-06-20	2005-12-22		ENSG00000253293	ENSG00000253293		"""Homeoboxes / ANTP class : HOXL subclass"""	5100	protein-coding gene	gene with protein product		142957	"""homeo box A10"""	HOX1H, HOX1		1973146, 1358459	Standard	NR_037939		Approved		uc011jzm.2	P31260	OTTHUMG00000023436		7.37:g.27208721_27208722dupGT		Somatic	0	11	0.00		0.5543400997359852	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	11	21.43	O43370|O43605|Q15949|Q504T1	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000283921.4	37	NULL	CCDS5410.2	7																																																																																			-	-		0.589	HOXA10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HOXA-AS4	protein_coding	OTTHUMT00000358724.2	-				27208713	+1	no_errors	ENST00000523790	ensembl	human	known	74_37	rna	INS	0.000:0.000	GT
UBE2I	7329	genome.wustl.edu	37	16	1369333	1369348	+	Intron	DEL	GCGGTGTGGGATGGTC	GCGGTGTGGGATGGTC	-	rs577755295|rs148282923|rs28631092|rs576634687|rs375040580	byFrequency	TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	GCGGTGTGGGATGGTC	GCGGTGTGGGATGGTC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr16:1369333_1369348delGCGGTGTGGGATGGTC	ENST00000355803.4	+	5	774				UBE2I_ENST00000403747.2_Intron|UBE2I_ENST00000325437.5_Intron|UBE2I_ENST00000402301.1_Intron|LA16c-358B7.3_ENST00000568106.1_RNA|UBE2I_ENST00000397514.3_Intron|UBE2I_ENST00000406620.1_Intron|UBE2I_ENST00000397515.2_Intron|UBE2I_ENST00000566587.1_Intron|LA16c-358B7.3_ENST00000567829.1_RNA	NM_194260.2	NP_919236.1	P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I						cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intracellular steroid hormone receptor signaling pathway (GO:0033145)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein sumoylation (GO:0016925)|regulation of receptor activity (GO:0010469)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|fibrillar center (GO:0001650)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|synapse (GO:0045202)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RING-like zinc finger domain binding (GO:0071535)|SUMO ligase activity (GO:0019789)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				GTGTGCTCCTGCGGTGTGGGATGGTCGCGGTGTGGG	0.644																																																	0								ENSG00000261505																																			LA16c-358B7.3	SO:0001627	intron_variant	0				Clone_based_vega_gene	D45050	CCDS10433.1	16p13.3	2011-05-19	2011-05-19		ENSG00000103275	ENSG00000103275	6.3.2.19	"""Ubiquitin-conjugating enzymes E2"""	12485	protein-coding gene	gene with protein product		601661	"""ubiquitin-conjugating enzyme E2I (homologous to yeast UBC9)"", ""ubiquitin-conjugating enzyme E2I (UBC9 homolog, yeast)"""			8565643	Standard	NM_003345		Approved	UBC9	uc002cld.2	P63279	OTTHUMG00000047845	ENST00000355803.4:c.224-827GCGGTGTGGGATGGTC>-	16.37:g.1369333_1369348delGCGGTGTGGGATGGTC		Somatic	NA	NA	NA		0.5543400997359852	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	D3DU69|P50550|Q15698|Q59GX1|Q86VB3	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000355803.4	37	NULL	CCDS10433.1	16																																																																																			-	-		0.644	UBE2I-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ENSG00000261505	protein_coding	OTTHUMT00000250317.2	GCGGTGTGGGATGGTC	NM_003345			1369348	-1	no_errors	ENST00000567829	ensembl	human	known	74_37	rna	DEL	0.003:0.002:0.001:0.009:0.008:0.009:0.008:0.009:0.008:0.009:0.010:0.009:0.011:0.011:0.006:0.005	-
ZYG11A	440590	genome.wustl.edu	37	1	53322695	53322695	+	Silent	SNP	C	C	T			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr1:53322695C>T	ENST00000371528.1	+	3	430	c.282C>T	c.(280-282)agC>agT	p.S94S	ZYG11A_ENST00000371532.1_Intron	NM_001004339.2	NP_001004339.2	Q6WRX3	ZY11A_HUMAN	zyg-11 family member A, cell cycle regulator	94										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	10						GAACAGCCAGCATTTTCCGAG	0.408																																																	0								ENSG00000203995						24.0	20.0	21.0					1																	53322695		692	1591	2283	ZYG11A	SO:0001819	synonymous_variant	0			-	HGNC		CCDS44148.1	1p32.3	2013-01-17	2012-12-10		ENSG00000203995	ENSG00000203995		"""ZYG11 cell cycle regulator family"""	32058	protein-coding gene	gene with protein product			"""zyg-11 homolog A (C. elegans)"""				Standard	NM_001004339		Approved	ZYG11	uc001cuk.2	Q6WRX3	OTTHUMG00000008923	ENST00000371528.1:c.282C>T	1.37:g.53322695C>T		Somatic	0	37	0.00		0.5543400997359852	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	36	18.18	A6NCK5	Silent	SNP	NA	NA	NA	NA	NA	NA	superfamily_ARM-type_fold	p.S94	ENST00000371528.1	37	c.282	CCDS44148.1	1																																																																																			-	NULL		0.408	ZYG11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZYG11A	protein_coding	OTTHUMT00000024856.3	C	NM_001004339	-		53322695	+1	no_errors	ENST00000371528	ensembl	human	known	74_37	silent	SNP	1.000	T
CASP8AP2	9994	genome.wustl.edu	37	6	90577712	90577728	+	RNA	DEL	CTTTGCCCAGACATGGA	CTTTGCCCAGACATGGA	-	rs202101805|rs202111256|rs201189413|rs199515704|rs202116886|rs200213073|rs537929246|rs200862023|rs199694900|rs201534830	byFrequency	TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	CTTTGCCCAGACATGGA	CTTTGCCCAGACATGGA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr6:90577712_90577728delCTTTGCCCAGACATGGA	ENST00000551025.1	+	0	6140_6156									caspase 8 associated protein 2									p.S1568fs*1(1)		NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TTATTGACATCTTTGCCCAGACATGGAAAGGAAGCTG	0.378														405	0.0808706	0.0061	0.0908	5008	,	,		25479	0.0437		0.1471	False		,,,				2504	0.1452				Colon(187;1656 2025 17045 31481 39901)												1	Deletion - Frameshift(1)	large_intestine(1)						ENSG00000118412		,,	39,3633		3,33,1800					,,	1.7	0.1			158	479,7383		54,371,3506	no	frameshift,frameshift,frameshift	CASP8AP2	NM_012115.3,NM_001137668.1,NM_001137667.1	,,	57,404,5306	A1A1,A1R,RR		6.0926,1.0621,4.4911	,,	,,		518,11016				CASP8AP2			0				HGNC	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90577712_90577728delCTTTGCCCAGACATGGA		Somatic	NA	NA	NA		0.5543400997359852	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000551025.1	37	NULL		6																																																																																			-	-		0.378	CASP8AP2-202	KNOWN	basic	processed_transcript	CASP8AP2	processed_transcript		CTTTGCCCAGACATGGA	NM_001137667			90577728	+1	no_errors	ENST00000237177	ensembl	human	known	74_37	rna	DEL	0.007:0.006:0.006:0.002:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.002:0.001:0.636	-
PODXL	5420	genome.wustl.edu	37	7	131241030	131241035	+	In_Frame_Del	DEL	GGCGAC	GGCGAC	-	rs11277659|rs547816245|rs532078953	byFrequency	TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	GGCGAC	GGCGAC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr7:131241030_131241035delGGCGAC	ENST00000378555.3	-	1	331_336	c.84_89delGTCGCC	c.(82-90)ccgtcgccc>ccc	p.28_30PSP>P	PODXL_ENST00000322985.9_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000465001.1_Intron|PODXL_ENST00000541194.1_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000537928.1_In_Frame_Del_p.28_30PSP>P			O00592	PODXL_HUMAN	podocalyxin-like	28					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)		p.P30_S31delPS(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ATTCTGGGAGggcgacggcgacggcg	0.748																																																	2	Deletion - In frame(2)	prostate(2)						ENSG00000128567																																			PODXL	SO:0001651	inframe_deletion	0				HGNC		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.84_89delGTCGCC	7.37:g.131241036_131241041delGGCGAC	ENSP00000367817:p.Pro30_Ser31del	Somatic	NA	NA	NA		0.5543400997359852	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A6NHX8|Q52LZ7|Q53ER6	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_CD34/Podocalyxin,pirsf_Podocalyxin-like_p1	p.PS30in_frame_del	ENST00000378555.3	37	c.89_84	CCDS34755.1	7																																																																																			-	pirsf_Podocalyxin-like_p1		0.748	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	PODXL	protein_coding	OTTHUMT00000337627.2	GGCGAC	NM_001018111			131241035	-1	no_errors	ENST00000541194	ensembl	human	known	74_37	in_frame_del	DEL	0.003:0.005:0.005:0.006:0.006:0.006	-
MED14	9282	genome.wustl.edu	37	X	40588606	40588606	+	Intron	DEL	A	A	-	rs200699843|rs369436436		TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chrX:40588606delA	ENST00000324817.1	-	2	334					NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14						androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTCTAAGAAGAAAAAAAAAAA	0.318																																																	0								ENSG00000180182						62.0	57.0	59.0					X																	40588606		2202	4299	6501	MED14	SO:0001627	intron_variant	0				HGNC	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.216-9T>-	X.37:g.40588606delA		Somatic	0	31	0.00		0.5543400997359852	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	Q4KMR7|Q9UNB3	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000324817.1	37	NULL	CCDS14254.1	X																																																																																			-	-		0.318	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MED14	protein_coding	OTTHUMT00000060692.1	A	NM_004229			40588606	-1	no_errors	ENST00000463072	ensembl	human	known	74_37	rna	DEL	0.000	-
RP11-764K9.1	0	genome.wustl.edu	37	9	68400407	68400407	+	lincRNA	SNP	A	A	G	rs199879074		TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr9:68400407A>G	ENST00000417843.2	-	0	1412																											GGCCACTCTCACCCTGCTTAT	0.532																																																	0								ENSG00000225411																																			RP11-764K9.1			0			-	Clone_based_vega_gene																													9.37:g.68400407A>G		Somatic	0	11	0.00		0.5543400997359852	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	11	26.67		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000417843.2	37	NULL		9																																																																																			-	-		0.532	RP11-764K9.1-001	KNOWN	basic	lincRNA	ENSG00000225411	lincRNA	OTTHUMT00000129817.2	A		rs199879074		68400407	-1	no_errors	ENST00000417843	ensembl	human	known	74_37	rna	SNP	0.035	G
RAB8A	4218	genome.wustl.edu	37	19	16244264	16244264	+	3'UTR	DEL	T	T	-			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr19:16244264delT	ENST00000300935.3	+	0	2047				CTD-2231E14.8_ENST00000599676.1_RNA|CTD-2231E14.8_ENST00000597983.1_RNA|HSH2D_ENST00000593154.2_5'Flank|HSH2D_ENST00000253680.6_5'Flank|HSH2D_ENST00000397372.4_5'Flank	NM_005370.4	NP_005361.2	P61006	RAB8A_HUMAN	RAB8A, member RAS oncogene family						axonogenesis (GO:0007409)|cellular response to insulin stimulus (GO:0032869)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi vesicle fusion to target membrane (GO:0048210)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein transport (GO:0051223)|small GTPase mediated signal transduction (GO:0007264)|vesicle docking involved in exocytosis (GO:0006904)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nonmotile primary cilium (GO:0031513)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)|recycling endosome membrane (GO:0055038)|trans-Golgi network transport vesicle (GO:0030140)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	8						tttttctttcttttttttttt	0.453																																																	0								ENSG00000269243																																			CTD-2231E14.8	SO:0001624	3_prime_UTR_variant	0				Clone_based_vega_gene		CCDS12339.1	19p13.2-p13.1	2008-05-14	2004-01-30	2004-01-30		ENSG00000167461		"""RAB, member RAS oncogene"""	7007	protein-coding gene	gene with protein product		165040	"""mel transforming oncogene (derived from cell line NK14)"""	MEL		1886711, 8408203	Standard	NM_005370		Approved	RAB8	uc002ndn.4	P61006		ENST00000300935.3:c.*1150T>-	19.37:g.16244264delT		Somatic	0	24	0.00		0.5543400997359852	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	B4DEK7|P24407|Q6FHV5	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000300935.3	37	NULL	CCDS12339.1	19																																																																																			-	-		0.453	RAB8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000269243	protein_coding	OTTHUMT00000460186.1	T	NM_005370			16244264	-1	no_errors	ENST00000599676	ensembl	human	known	74_37	rna	DEL	0.000	-
RNFT2	84900	genome.wustl.edu	37	12	117290182	117290183	+	3'UTR	INS	-	-	TTCCCC	rs140709252|rs71099009|rs201262887	byFrequency	TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr12:117290182_117290183insTTCCCC	ENST00000392549.2	+	0	1644_1645				RNFT2_ENST00000407967.3_Intron|RNFT2_ENST00000551251.1_3'UTR|RNFT2_ENST00000319176.7_3'UTR	NM_001109903.1	NP_001103373.1	Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2							integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		AAACCAGGACTTTCCCCTTGGC	0.564														2254	0.45008	0.0386	0.7738	5008	,	,		20897	0.4732		0.7296	False		,,,				2504	0.4652																0								ENSG00000135119																																			RNFT2	SO:0001624	3_prime_UTR_variant	0				HGNC	AK027533	CCDS9180.2, CCDS44987.1	12q24.22	2013-01-09	2008-02-26	2008-02-26	ENSG00000135119	ENSG00000135119		"""RING-type (C3HC4) zinc fingers"""	25905	protein-coding gene	gene with protein product			"""transmembrane protein 118"""	TMEM118		12477932	Standard	NM_032814		Approved	FLJ14627	uc009zwn.3	Q96EX2	OTTHUMG00000150882	ENST00000392549.2:c.*77->TTCCCC	12.37:g.117290183_117290188dupTTCCCC		Somatic	NA	NA	NA		0.5543400997359852	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	E9PAM7|Q96SU5	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000392549.2	37	NULL	CCDS44987.1	12																																																																																			-	-		0.564	RNFT2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RNFT2	protein_coding		-	NM_032814			117290183	+1	no_errors	ENST00000551251	ensembl	human	known	74_37	rna	INS	0.014:0.009	TTCCCC
VPS52	6293	genome.wustl.edu	37	6	33219511	33219511	+	Intron	SNP	C	C	T			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr6:33219511C>T	ENST00000445902.2	-	19	2125				VPS52_ENST00000482399.1_Intron|HCG25_ENST00000427196.1_RNA|VPS52_ENST00000478934.1_Intron|HCG25_ENST00000422366.1_RNA|HCG25_ENST00000442228.1_RNA|VPS52_ENST00000436044.2_Intron|HCG25_ENST00000450514.1_RNA	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)						ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						ATCAAACCCTCTTTTCTGGTA	0.443																																																	0								ENSG00000232940																																			HCG25	SO:0001627	intron_variant	0			-	HGNC	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.1907-98G>A	6.37:g.33219511C>T		Somatic	0	41	0.00		0.5543400997359852	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	46	17.86	A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000445902.2	37	NULL	CCDS4770.2	6																																																																																			-	-		0.443	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCG25	protein_coding	OTTHUMT00000076598.2	C	NM_022553	-		33219511	+1	no_errors	ENST00000422366	ensembl	human	known	74_37	rna	SNP	0.000	T
MT-CO1	4512	genome.wustl.edu	37	M	7210	7210	+	Missense_Mutation	SNP	T	T	C			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chrM:7210T>C	ENST00000361624.2	+	1	1307	c.1307T>C	c.(1306-1308)aTg>aCg	p.M436T	MT-CO3_ENST00000362079.2_5'Flank|MT-TM_ENST00000387377.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-TI_ENST00000387365.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-CO2_ENST00000361739.1_5'Flank|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TC_ENST00000387405.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	436					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						CCTATCCGGAATGCCCCGACG	0.428																																																	0								ENSG00000198804																																			MT-CO1	SO:0001583	missense	0			-	HGNC			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.1307T>C	M.37:g.7210T>C	ENSP00000354499:p.Met436Thr	Somatic	0	17	0.00		0.5543400997359852	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	12	29.41	Q34770	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1	p.M436T	ENST00000361624.2	37	c.1307		MT																																																																																			-	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1		0.428	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MT-CO1	protein_coding		T	YP_003024028	-		7210	+1	no_errors	ENST00000361624	ensembl	human	known	74_37	missense	SNP	NULL	C
GOLGA2P7	388152	genome.wustl.edu	37	15	84868712	84868724	+	RNA	DEL	GGGGGGGGGGGGA	GGGGGGGGGGGGA	-	rs372945855|rs111618525|rs200105620		TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	GGGGGGGGGGGGA	GGGGGGGGGGGGA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr15:84868712_84868724delGGGGGGGGGGGGA	ENST00000559668.1	-	0	3591_3603					NR_049748.1																						TGGCTGCGGGGGGGGGGGGGGGAGGGGTGGGAT	0.704																																																	0								ENSG00000225151																																			AC103965.1			0				Clone_based_vega_gene																													15.37:g.84868712_84868724delGGGGGGGGGGGGA		Somatic	NA	NA	NA		0.5543400997359852	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000559668.1	37	NULL		15																																																																																			-	-		0.704	AC103965.1-008	KNOWN	basic	processed_transcript	LOC101929847	pseudogene	OTTHUMT00000418802.1	GGGGGGGGGGGGA				84868724	-1	no_errors	ENST00000316967	ensembl	human	known	74_37	rna	DEL	0.357:0.337:0.362:0.362:0.370:0.357:0.300:0.305:0.291:0.276:0.262:0.247:0.207	-
ANXA6	309	genome.wustl.edu	37	5	150488015	150488015	+	Splice_Site	SNP	C	C	T			TCGA-PC-A5DK-01A-11D-A27P-09	TCGA-PC-A5DK-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3eccd705-c0c1-4563-8e5a-98b027d17255	eb5f3321-1759-43c2-a78c-8f270f392c89	g.chr5:150488015C>T	ENST00000354546.5	-	23	2008		c.e23+1		ANXA6_ENST00000377751.5_Splice_Site|ANXA6_ENST00000523714.1_Splice_Site|ANXA6_ENST00000356496.5_Splice_Site|ANXA6_ENST00000521512.1_Splice_Site	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6						calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGCCAGTTACCAATGGCCAC	0.512																																																	0								ENSG00000197043						179.0	180.0	180.0					5																	150488015		2029	4181	6210	ANXA6	SO:0001630	splice_region_variant	0			-	HGNC	J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"""Annexins"""	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.1780+1G>A	5.37:g.150488015C>T		Somatic	0	49	0.00		0.5543400997359852	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	24	17.24	B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Splice_Site	SNP	NA	NA	NA	NA	NA	NA	-	e22+1	ENST00000354546.5	37	c.1780+1	CCDS47315.1	5	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491102	0.84962	.	.	ENSG00000197043	ENST00000354546;ENST00000523714;ENST00000377751;ENST00000356496;ENST00000521512;ENST00000540153	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3285	0.90261	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANXA6	150468208	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	6.425000	0.73370	2.630000	0.89119	0.655000	0.94253	.	-	-		0.512	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANXA6	protein_coding	OTTHUMT00000377668.2	C	NM_001155	-	Intron	150488015	-1	no_errors	ENST00000354546	ensembl	human	known	74_37	splice_site	SNP	1.000	T
