#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_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_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ACLY	47	genome.wustl.edu	37	17	40030163	40030163	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0SV-01A-11D-A099-09	TCGA-A2-A0SV-10A-01W-A097-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d3206c6-0ca8-4b2b-a160-b1719217f9c7	db8da47e-0daa-4ebc-81fa-756dacf71ca7	g.chr17:40030163C>T	ENST00000352035.2	-	23	2673	c.2543G>A	c.(2542-2544)cGa>cAa	p.R848Q	ACLY_ENST00000537919.1_Missense_Mutation_p.R577Q|ACLY_ENST00000353196.1_Missense_Mutation_p.R838Q|ACLY_ENST00000393896.2_Missense_Mutation_p.R838Q|ACLY_ENST00000590151.1_Missense_Mutation_p.R848Q	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	848					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CTCCTGTCCTCGCTCATCGCA	0.597																																					Colon(64;807 1396 15971 30971)	dbGAP											0													58.0	54.0	55.0					17																	40030163		2203	4300	6503	-	-	-	SO:0001583	missense	0			X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.2543G>A	17.37:g.40030163C>T	ENSP00000253792:p.Arg848Gln		B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase	p.R848Q	ENST00000352035.2	37	c.2543	CCDS11412.1	17	.	.	.	.	.	.	.	.	.	.	C	33	5.272111	0.95429	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	5.93	5.93	0.95920	Citrate synthase-like, core (1);	0.000000	0.85682	D	0.000000	T	0.67599	0.2910	H	0.96365	3.81	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	0.978;0.994;0.994;1.0;0.978	T	0.77536	-0.2551	10	0.87932	D	0	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	577;892;902;838;848	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	Q	848;902;838;577;838	ENSP00000253792:R848Q;ENSP00000345398:R838Q;ENSP00000445349:R577Q;ENSP00000377474:R838Q	ENSP00000253792:R848Q	R	-	2	0	ACLY	37283689	1.000000	0.71417	0.865000	0.33974	0.453000	0.32348	7.704000	0.84595	2.814000	0.96858	0.655000	0.94253	CGA	ACLY	-	superfamily_Citrate_synthase-like_core,pirsf_ATP-citrate_synthase	ENSG00000131473		0.597	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACLY	HGNC	protein_coding	OTTHUMT00000257465.1	29	0.00	0	C	NM_001096		40030163	40030163	-1	no_errors	ENST00000352035	ensembl	human	known	69_37n	missense	45	36.62	26	SNP	1.000	T
AOC3	8639	genome.wustl.edu	37	17	41008381	41008381	+	Silent	SNP	C	C	T			TCGA-A2-A0SV-01A-11D-A099-09	TCGA-A2-A0SV-10A-01W-A097-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d3206c6-0ca8-4b2b-a160-b1719217f9c7	db8da47e-0daa-4ebc-81fa-756dacf71ca7	g.chr17:41008381C>T	ENST00000308423.2	+	4	2266	c.2106C>T	c.(2104-2106)ggC>ggT	p.G702G	AOC3_ENST00000591562.1_Silent_p.G159G	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	702					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	ACGGCGTGGGCTTCTTCCTCC	0.567																																					NSCLC(3;192 220 10664 11501 16477)	dbGAP											0													98.0	98.0	98.0					17																	41008381		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"""vascular adhesion protein 1"""	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.2106C>T	17.37:g.41008381C>T			B2RCI5|K7ESB3|L0L8N9|Q45F94	Silent	SNP	pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.G702	ENST00000308423.2	37	c.2106	CCDS11444.1	17																																																																																			AOC3	-	pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C	ENSG00000131471		0.567	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOC3	HGNC	protein_coding	OTTHUMT00000452444.1	88	0.00	0	C	NM_003734		41008381	41008381	+1	no_errors	ENST00000308423	ensembl	human	known	69_37n	silent	45	39.19	29	SNP	1.000	T
ATP9A	10079	genome.wustl.edu	37	20	50235558	50235558	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0SV-01A-11D-A099-09	TCGA-A2-A0SV-10A-01W-A097-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d3206c6-0ca8-4b2b-a160-b1719217f9c7	db8da47e-0daa-4ebc-81fa-756dacf71ca7	g.chr20:50235558G>A	ENST00000338821.5	-	20	2404	c.2140C>T	c.(2140-2142)Ctc>Ttc	p.L714F	ATP9A_ENST00000311637.5_Missense_Mutation_p.L578F|ATP9A_ENST00000402822.1_Missense_Mutation_p.L593F	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	714					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTCAGCTCGAGGTGAGCCTCC	0.597																																						dbGAP											0													62.0	58.0	59.0					20																	50235558		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.2140C>T	20.37:g.50235558G>A	ENSP00000342481:p.Leu714Phe		E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.L714F	ENST00000338821.5	37	c.2140	CCDS33489.1	20	.	.	.	.	.	.	.	.	.	.	G	18.12	3.552093	0.65311	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	T;T;T	0.75154	-0.91;-0.91;-0.91	5.07	4.02	0.46733	HAD-like domain (1);	0.000000	0.85682	D	0.000000	D	0.82852	0.5127	M	0.76002	2.32	0.54753	D	0.999983	D;D	0.59357	0.983;0.985	P;D	0.67103	0.644;0.949	D	0.83545	0.0098	10	0.56958	D	0.05	-24.2578	10.0061	0.41957	0.1786:0.0:0.8214:0.0	.	593;714	O75110-2;O75110	.;ATP9A_HUMAN	F	578;714;593	ENSP00000309086:L578F;ENSP00000342481:L714F;ENSP00000385875:L593F	ENSP00000309086:L578F	L	-	1	0	ATP9A	49668965	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	4.488000	0.60300	2.342000	0.79632	0.462000	0.41574	CTC	ATP9A	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transl	ENSG00000054793		0.597	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP9A	HGNC	protein_coding	OTTHUMT00000106494.1	31	0.00	0	G	NM_006045		50235558	50235558	-1	no_errors	ENST00000338821	ensembl	human	known	69_37n	missense	17	69.64	39	SNP	1.000	A
BRDT	676	genome.wustl.edu	37	1	92445220	92445220	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0SV-01A-11D-A099-09	TCGA-A2-A0SV-10A-01W-A097-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d3206c6-0ca8-4b2b-a160-b1719217f9c7	db8da47e-0daa-4ebc-81fa-756dacf71ca7	g.chr1:92445220G>A	ENST00000362005.3	+	9	1611	c.1193G>A	c.(1192-1194)gGt>gAt	p.G398D	BRDT_ENST00000402388.1_Missense_Mutation_p.G398D|BRDT_ENST00000370389.2_Missense_Mutation_p.G325D|BRDT_ENST00000394530.3_Missense_Mutation_p.G352D|BRDT_ENST00000399546.2_Missense_Mutation_p.G398D	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	398					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GAAACCACTGGTAGAGAGAAC	0.413																																						dbGAP											0													108.0	107.0	107.0					1																	92445220		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.1193G>A	1.37:g.92445220G>A	ENSP00000354568:p.Gly398Asp		A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.G398D	ENST00000362005.3	37	c.1193	CCDS735.1	1	.	.	.	.	.	.	.	.	.	.	G	7.205	0.594301	0.13875	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000539070;ENST00000394530;ENST00000426141;ENST00000402388	T;T;T;T;T;T	0.09817	3.25;3.24;3.25;3.28;2.94;3.25	5.12	0.0888	0.14456	.	1.324040	0.04718	N	0.418766	T	0.02571	0.0078	L	0.29908	0.895	0.19775	N	0.999953	B;B;B;B	0.17268	0.003;0.003;0.021;0.003	B;B;B;B	0.12156	0.002;0.002;0.007;0.002	T	0.45498	-0.9257	10	0.44086	T	0.13	-1.2618	6.3358	0.21294	0.3135:0.38:0.3065:0.0	.	352;352;402;398	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	D	398;325;398;398;352;398;398	ENSP00000354568:G398D;ENSP00000359416:G325D;ENSP00000387822:G398D;ENSP00000378038:G352D;ENSP00000404969:G398D;ENSP00000384051:G398D	ENSP00000354568:G398D	G	+	2	0	BRDT	92217808	0.015000	0.18098	0.010000	0.14722	0.016000	0.09150	0.017000	0.13399	-0.127000	0.11661	-0.165000	0.13383	GGT	BRDT	-	NULL	ENSG00000137948		0.413	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRDT	HGNC	protein_coding	OTTHUMT00000027980.2	99	0.00	0	G	NM_207189		92445220	92445220	+1	no_errors	ENST00000362005	ensembl	human	known	69_37n	missense	85	20.56	22	SNP	0.126	A
BTN2A1	11120	genome.wustl.edu	37	6	26459794	26459795	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A2-A0SV-01A-11D-A099-09	TCGA-A2-A0SV-10A-01W-A097-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d3206c6-0ca8-4b2b-a160-b1719217f9c7	db8da47e-0daa-4ebc-81fa-756dacf71ca7	g.chr6:26459794_26459795insA	ENST00000312541.5	+	3	416_417	c.168_169insA	c.(169-171)aaafs	p.K57fs	BTN2A1_ENST00000541522.1_5'UTR|BTN2A1_ENST00000429381.1_Frame_Shift_Ins_p.K57fs|BTN2A1_ENST00000469185.1_Frame_Shift_Ins_p.K57fs	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	57	Ig-like V-type.				lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						TGTCACCCGAGAAAAATGCTGA	0.535																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U90543	CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1	6p22.1	2014-01-14			ENSG00000112763	ENSG00000112763		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1136	protein-coding gene	gene with protein product		613590				9382921, 9149941	Standard	NM_007049		Approved	BT2.1, BTF1, BTN2.1	uc003nib.2	Q7KYR7	OTTHUMG00000014457	ENST00000312541.5:c.173dupA	6.37:g.26459799_26459799dupA	ENSP00000312158:p.Lys57fs		B4DLP9|E9PGR4|O00475|P78408|Q59EN4|Q7KYQ7|Q7Z386|Q96AV7|Q9NU62	Frame_Shift_Ins	INS	pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like	p.N57fs	ENST00000312541.5	37	c.168_169	CCDS4613.1	6																																																																																			BTN2A1	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000112763		0.535	BTN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN2A1	HGNC	protein_coding	OTTHUMT00000040122.2	272	0.00	0	-	NM_007049		26459794	26459795	+1	no_errors	ENST00000312541	ensembl	human	known	69_37n	frame_shift_ins	197	32.07	93	INS	0.877:0.868	A
C19orf44	84167	genome.wustl.edu	37	19	16611796	16611796	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0SV-01A-11D-A099-09	TCGA-A2-A0SV-10A-01W-A097-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d3206c6-0ca8-4b2b-a160-b1719217f9c7	db8da47e-0daa-4ebc-81fa-756dacf71ca7	g.chr19:16611796A>C	ENST00000221671.3	+	2	349	c.193A>C	c.(193-195)Aaa>Caa	p.K65Q	C19orf44_ENST00000594035.1_Missense_Mutation_p.K65Q|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	65										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						CTTACTCCTGAAAGAGAACCC	0.493																																						dbGAP											0													110.0	123.0	119.0					19																	16611796		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.193A>C	19.37:g.16611796A>C	ENSP00000221671:p.Lys65Gln		Q8N6Y7	Missense_Mutation	SNP	NULL	p.K65Q	ENST00000221671.3	37	c.193	CCDS12345.1	19	.	.	.	.	.	.	.	.	.	.	A	14.57	2.575119	0.45902	.	.	ENSG00000105072	ENST00000221671	.	.	.	5.05	1.54	0.23209	.	0.147980	0.42053	D	0.000775	T	0.44307	0.1287	M	0.69823	2.125	0.09310	N	1	P;P	0.52061	0.95;0.875	P;P	0.50352	0.625;0.638	T	0.28299	-1.0048	9	0.35671	T	0.21	-7.8737	5.03	0.14404	0.5372:0.3654:0.0974:0.0	.	65;65	Q9H6X5;Q9H6X5-2	CS044_HUMAN;.	Q	65	.	ENSP00000221671:K65Q	K	+	1	0	C19orf44	16472796	0.002000	0.14202	0.002000	0.10522	0.002000	0.02628	0.655000	0.24933	0.251000	0.21505	0.533000	0.62120	AAA	C19orf44	-	NULL	ENSG00000105072		0.493	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C19orf44	HGNC	protein_coding	OTTHUMT00000461218.1	51	0.00	0	A	NM_032207		16611796	16611796	+1	no_errors	ENST00000221671	ensembl	human	known	69_37n	missense	49	25.76	17	SNP	0.000	C
CEP76	79959	genome.wustl.edu	37	18	12697393	12697393	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A0SV-01A-11D-A099-09	TCGA-A2-A0SV-10A-01W-A097-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d3206c6-0ca8-4b2b-a160-b1719217f9c7	db8da47e-0daa-4ebc-81fa-756dacf71ca7	g.chr18:12697393T>C	ENST00000262127.2	-	5	760	c.535A>G	c.(535-537)Atg>Gtg	p.M179V	CEP76_ENST00000586887.1_5'Flank|PSMG2_ENST00000585331.2_Intron|CEP76_ENST00000423709.2_Missense_Mutation_p.M104V	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	179					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GAATCAGCCATTCTAGTTCCA	0.308																																						dbGAP											0													118.0	100.0	106.0					18																	12697393		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC026307	CCDS11861.1, CCDS62390.1	18p11.21	2014-02-20	2005-12-01	2005-12-01	ENSG00000101624	ENSG00000101624			25727	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 9"""	C18orf9		14654843	Standard	NM_024899		Approved	HsT1705, FLJ12542	uc002kri.4	Q8TAP6	OTTHUMG00000131701	ENST00000262127.2:c.535A>G	18.37:g.12697393T>C	ENSP00000262127:p.Met179Val		B0YJB2|B4DXG5|B4DZW1|Q658N5|Q9H9U7	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.M179V	ENST00000262127.2	37	c.535	CCDS11861.1	18	.	.	.	.	.	.	.	.	.	.	T	10.37	1.332496	0.24167	.	.	ENSG00000101624	ENST00000262127;ENST00000423709	T;T	0.79554	-1.28;-1.26	5.52	5.52	0.82312	.	0.034580	0.85682	D	0.000000	D	0.84683	0.5526	L	0.48642	1.525	0.58432	D	0.999996	B;B;P	0.52577	0.007;0.42;0.954	B;B;D	0.66351	0.003;0.099;0.943	T	0.80665	-0.1281	10	0.14656	T	0.56	-0.9267	15.935	0.79694	0.0:0.0:0.0:1.0	.	104;179;1	Q8TAP6-2;Q8TAP6;Q8TAP6-3	.;CEP76_HUMAN;.	V	179;104	ENSP00000262127:M179V;ENSP00000403074:M104V	ENSP00000262127:M179V	M	-	1	0	CEP76	12687393	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	6.212000	0.72188	2.229000	0.72834	0.383000	0.25322	ATG	CEP76	-	superfamily_C2_Ca/lipid-bd_dom_CaLB	ENSG00000101624		0.308	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP76	HGNC	protein_coding	OTTHUMT00000254611.1	129	0.00	0	T	NM_024899		12697393	12697393	-1	no_errors	ENST00000262127	ensembl	human	known	69_37n	missense	91	29.46	38	SNP	1.000	C
CFTR	1080	genome.wustl.edu	37	7	117305522	117305530	+	In_Frame_Del	DEL	AATAATTAG	AATAATTAG	-			TCGA-A2-A0SV-01A-11D-A099-09	TCGA-A2-A0SV-10A-01W-A097-09	AATAATTAG	AATAATTAG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d3206c6-0ca8-4b2b-a160-b1719217f9c7	db8da47e-0daa-4ebc-81fa-756dacf71ca7	g.chr7:117305522_117305530delAATAATTAG	ENST00000003084.6	+	26	4278_4286	c.4146_4154delAATAATTAG	c.(4144-4155)caaataattaga>caa	p.IIR1383del	CFTR_ENST00000454343.1_In_Frame_Del_p.IIR1322del	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1383	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	GAACATACCAAATAATTAGAAGAACTCTA	0.316									Cystic Fibrosis																													dbGAP											0			GRCh37	CI972573	CFTR	I																																				-	-	-	SO:0001651	inframe_deletion	0	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.4146_4154delAATAATTAG	7.37:g.117305522_117305530delAATAATTAG	ENSP00000003084:p.Ile1383_Arg1385del		Q20BG8|Q20BH2|Q2I0A1|Q2I102	In_Frame_Del	DEL	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel	p.IIR1383in_frame_del	ENST00000003084.6	37	c.4146_4154	CCDS5773.1	7																																																																																			CFTR	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_cAMP_cl_channel	ENSG00000001626		0.316	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFTR	HGNC	protein_coding	OTTHUMT00000059397.3	143	0.00	0	AATAATTAG	NM_000492		117305522	117305530	+1	no_errors	ENST00000003084	ensembl	human	known	69_37n	in_frame_del	63	17.11	13	DEL	0.997:1.000:1.000:0.998:1.000:1.000:1.000:1.000:1.000	-
CIT	11113	genome.wustl.edu	37	12	120146063	120146063	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0SV-01A-11D-A099-09	TCGA-A2-A0SV-10A-01W-A097-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d3206c6-0ca8-4b2b-a160-b1719217f9c7	db8da47e-0daa-4ebc-81fa-756dacf71ca7	g.chr12:120146063G>A	ENST00000261833.7	-	39	5058	c.5006C>T	c.(5005-5007)tCc>tTc	p.S1669F	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.S1711F	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1669	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		AGGCAGGTGGGACTGGGCCAG	0.557																																						dbGAP											0													107.0	93.0	98.0					12																	120146063		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.5006C>T	12.37:g.120146063G>A	ENSP00000261833:p.Ser1669Phe		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.S1669F	ENST00000261833.7	37	c.5006	CCDS9192.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.84|17.84	3.488165|3.488165	0.64074|0.64074	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392520|ENST00000392521;ENST00000261833	.|T;T	.|0.05139	.|3.49;3.49	5.21|5.21	5.21|5.21	0.72293|0.72293	.|Citron-like (3);	.|0.261860	.|0.39083	.|N	.|0.001474	T|T	0.24044|0.24044	0.0582|0.0582	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.71674	.|0.998;0.998;0.98	.|D;D;P	.|0.71184	.|0.972;0.959;0.731	T|T	0.00230|0.00230	-1.1897|-1.1897	5|10	.|0.87932	.|D	.|0	.|.	19.1229|19.1229	0.93371|0.93371	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1711;1669;1187	.|Q2M5E1;O14578;O14578-3	.|.;CTRO_HUMAN;.	S|F	1282|1711;1669	.|ENSP00000376306:S1711F;ENSP00000261833:S1669F	.|ENSP00000261833:S1669F	P|S	-|-	1|2	0|0	CIT|CIT	118630446|118630446	1.000000|1.000000	0.71417|0.71417	0.819000|0.819000	0.32651|0.32651	0.067000|0.067000	0.16453|0.16453	9.777000|9.777000	0.99008|0.99008	2.599000|2.599000	0.87857|0.87857	0.561000|0.561000	0.74099|0.74099	CCC|TCC	CIT	-	pfam_Citron,smart_Citron,pirsf_Citron_Rho-interacting_kinase	ENSG00000122966		0.557	CIT-001	KNOWN	basic|CCDS	protein_coding	CIT	HGNC	protein_coding	OTTHUMT00000259410.4	112	0.00	0	G	NM_007174		120146063	120146063	-1	no_errors	ENST00000261833	ensembl	human	known	69_37n	missense	64	46.22	55	SNP	1.000	A
CSMD1	64478	genome.wustl.edu	37	8	3216673	3216673	+	Splice_Site	SNP	C	C	T			TCGA-A2-A0SV-01A-11D-A099-09	TCGA-A2-A0SV-10A-01W-A097-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d3206c6-0ca8-4b2b-a160-b1719217f9c7	db8da47e-0daa-4ebc-81fa-756dacf71ca7	g.chr8:3216673C>T	ENST00000520002.1	-	22	3863		c.e22+1		CSMD1_ENST00000602557.1_Splice_Site|CSMD1_ENST00000539096.1_Splice_Site|CSMD1_ENST00000537824.1_Splice_Site|CSMD1_ENST00000602723.1_Splice_Site|CSMD1_ENST00000400186.3_Splice_Site|CSMD1_ENST00000542608.1_Splice_Site			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1							integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGACCACCTACCCACACACCT	0.582																																						dbGAP											0													65.0	67.0	67.0					8																	3216673		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3307+1G>A	8.37:g.3216673C>T			Q0H0J5|Q96QU9|Q96RM4	Splice_Site	SNP	-	e22+1	ENST00000520002.1	37	c.3307+1		8	.	.	.	.	.	.	.	.	.	.	c	28.0	4.885697	0.91814	.	.	ENSG00000183117	ENST00000335551;ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9218	0.92528	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSMD1	3204080	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.612000	0.82975	2.454000	0.82982	0.550000	0.68814	.	CSMD1	-	-	ENSG00000183117		0.582	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	55	0.00	0	C	NM_033225	Intron	3216673	3216673	-1	no_errors	ENST00000520002	ensembl	human	known	69_37n	splice_site	24	29.41	10	SNP	1.000	T
DMRTA1	63951	genome.wustl.edu	37	9	22451646	22451646	+	Silent	SNP	T	T	A			TCGA-A2-A0SV-01A-11D-A099-09	TCGA-A2-A0SV-10A-01W-A097-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d3206c6-0ca8-4b2b-a160-b1719217f9c7	db8da47e-0daa-4ebc-81fa-756dacf71ca7	g.chr9:22451646T>A	ENST00000325870.2	+	2	1476	c.1251T>A	c.(1249-1251)gcT>gcA	p.A417A		NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1	417					male mating behavior (GO:0060179)|ovarian follicle development (GO:0001541)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		CTACTTCTGCTTCTTATGGAG	0.418																																						dbGAP											0													121.0	125.0	124.0					9																	22451646		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ290954	CCDS6514.1	9p21.3	2008-05-15			ENSG00000176399	ENSG00000176399			13826	protein-coding gene	gene with protein product		614803					Standard	NM_022160		Approved		uc003zpp.1	Q5VZB9	OTTHUMG00000019693	ENST00000325870.2:c.1251T>A	9.37:g.22451646T>A			A1L481|Q8N8Y9|Q9H4B9	Silent	SNP	pfam_DM_DNA-bd,pfam_DMA,superfamily_DM_DNA-bd,superfamily_UBA-like,smart_DM_DNA-bd,pfscan_DM_DNA-bd	p.A417	ENST00000325870.2	37	c.1251	CCDS6514.1	9																																																																																			DMRTA1	-	NULL	ENSG00000176399		0.418	DMRTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRTA1	HGNC	protein_coding	OTTHUMT00000051935.2	39	0.00	0	T			22451646	22451646	+1	no_errors	ENST00000325870	ensembl	human	known	69_37n	silent	61	41.51	44	SNP	0.683	A
DYNC2H1	79659	genome.wustl.edu	37	11	103055626	103055626	+	Splice_Site	SNP	A	A	G			TCGA-A2-A0SV-01A-11D-A099-09	TCGA-A2-A0SV-10A-01W-A097-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d3206c6-0ca8-4b2b-a160-b1719217f9c7	db8da47e-0daa-4ebc-81fa-756dacf71ca7	g.chr11:103055626A>G	ENST00000375735.2	+	41	6623	c.6479A>G	c.(6478-6480)aAt>aGt	p.N2160S	DYNC2H1_ENST00000398093.3_Splice_Site_p.N2160S|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2160	AAA 2. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AATCAACAGAATGACTATGTG	0.358																																						dbGAP											0													173.0	163.0	166.0					11																	103055626		1877	4102	5979	-	-	-	SO:0001630	splice_region_variant	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.6478-1A>G	11.37:g.103055626A>G			O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.N2160S	ENST00000375735.2	37	c.6479	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	A	7.620	0.676532	0.14841	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.24723	1.84;1.84	5.24	5.24	0.73138	.	.	.	.	.	T	0.24392	0.0591	L	0.46885	1.475	0.46654	D	0.999148	B;B	0.14438	0.006;0.01	B;B	0.11329	0.002;0.006	T	0.04242	-1.0966	9	0.20519	T	0.43	.	15.4459	0.75228	1.0:0.0:0.0:0.0	.	2160;2160	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	S	2160	ENSP00000364887:N2160S;ENSP00000381167:N2160S	ENSP00000364887:N2160S	N	+	2	0	DYNC2H1	102560836	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	5.988000	0.70579	2.116000	0.64780	0.377000	0.23210	AAT	DYNC2H1	-	NULL	ENSG00000187240		0.358	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	247	0.00	0	A	XM_370652	Missense_Mutation	103055626	103055626	+1	no_errors	ENST00000398093	ensembl	human	known	69_37n	missense	169	33.20	84	SNP	1.000	G
DYRK2	8445	genome.wustl.edu	37	12	68051820	68051820	+	Missense_Mutation	SNP	G	G	T	rs543503984		TCGA-A2-A0SV-01A-11D-A099-09	TCGA-A2-A0SV-10A-01W-A097-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d3206c6-0ca8-4b2b-a160-b1719217f9c7	db8da47e-0daa-4ebc-81fa-756dacf71ca7	g.chr12:68051820G>T	ENST00000344096.3	+	3	1546	c.1133G>T	c.(1132-1134)cGt>cTt	p.R378L	DYRK2_ENST00000393555.3_Missense_Mutation_p.R305L|RP11-335O4.3_ENST00000425371.2_RNA	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	378	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of NFAT protein import into nucleus (GO:0051534)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein phosphorylation (GO:0006468)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		GAGCATCAGCGTGTCTACACG	0.483																																						dbGAP											0													111.0	105.0	107.0					12																	68051820		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y09216	CCDS8978.1, CCDS8979.1	12q15	2008-07-03				ENSG00000127334			3093	protein-coding gene	gene with protein product		603496				9748265	Standard	NM_003583		Approved		uc001str.4	Q92630		ENST00000344096.3:c.1133G>T	12.37:g.68051820G>T	ENSP00000342105:p.Arg378Leu		B2R9V9|Q9BRB5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R378L	ENST00000344096.3	37	c.1133	CCDS8978.1	12	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110986	0.77210	.	.	ENSG00000127334	ENST00000344096;ENST00000393555	T;T	0.19806	2.12;2.12	5.45	5.45	0.79879	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.33673	0.0871	L	0.37507	1.11	0.80722	D	1	D	0.59357	0.985	P	0.58077	0.832	T	0.00657	-1.1623	9	.	.	.	.	19.6624	0.95878	0.0:0.0:1.0:0.0	.	378	Q92630	DYRK2_HUMAN	L	378;305	ENSP00000342105:R378L;ENSP00000377186:R305L	.	R	+	2	0	DYRK2	66338087	1.000000	0.71417	0.990000	0.47175	0.907000	0.53573	8.011000	0.88624	2.736000	0.93811	0.305000	0.20034	CGT	DYRK2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000127334		0.483	DYRK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DYRK2	HGNC	protein_coding	OTTHUMT00000402218.1	197	0.00	0	G			68051820	68051820	+1	no_errors	ENST00000344096	ensembl	human	known	69_37n	missense	93	29.01	38	SNP	1.000	T
EFNB1	1947	genome.wustl.edu	37	X	68060260	68060260	+	Silent	SNP	G	G	A			TCGA-A2-A0SV-01A-11D-A099-09	TCGA-A2-A0SV-10A-01W-A097-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d3206c6-0ca8-4b2b-a160-b1719217f9c7	db8da47e-0daa-4ebc-81fa-756dacf71ca7	g.chrX:68060260G>A	ENST00000204961.4	+	5	1584	c.804G>A	c.(802-804)cgG>cgA	p.R268R		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	268					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|embryonic pattern specification (GO:0009880)|ephrin receptor signaling pathway (GO:0048013)|neural crest cell migration (GO:0001755)|positive regulation of T cell proliferation (GO:0042102)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ephrin receptor binding (GO:0046875)			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						TACGCAAGCGGCACCGCAAGC	0.637																																						dbGAP											0													41.0	36.0	38.0					X																	68060260		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U09303	CCDS14391.1	Xq12	2011-03-09			ENSG00000090776	ENSG00000090776		"""Ephrins"""	3226	protein-coding gene	gene with protein product		300035	"""craniofrontonasal syndrome (craniofrontonasal dysplasia)"""	EPLG2, CFNS		7774950, 16526919	Standard	NM_004429		Approved	LERK2, Elk-L	uc004dxd.4	P98172	OTTHUMG00000021751	ENST00000204961.4:c.804G>A	X.37:g.68060260G>A			D3DVU0	Silent	SNP	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin	p.R268	ENST00000204961.4	37	c.804	CCDS14391.1	X																																																																																			EFNB1	-	NULL	ENSG00000090776		0.637	EFNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFNB1	HGNC	protein_coding	OTTHUMT00000057029.1	45	0.00	0	G	NM_004429		68060260	68060260	+1	no_errors	ENST00000204961	ensembl	human	known	69_37n	silent	60	25.00	20	SNP	0.982	A
EPHB3	2049	genome.wustl.edu	37	3	184299398	184299398	+	Silent	SNP	T	T	C			TCGA-A2-A0SV-01A-11D-A099-09	TCGA-A2-A0SV-10A-01W-A097-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d3206c6-0ca8-4b2b-a160-b1719217f9c7	db8da47e-0daa-4ebc-81fa-756dacf71ca7	g.chr3:184299398T>C	ENST00000330394.2	+	16	3437	c.2985T>C	c.(2983-2985)ccT>ccC	p.P995P	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	995					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			AGACGCTGCCTGTGCAGGTCT	0.622																																						dbGAP											0													36.0	35.0	35.0					3																	184299398		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.2985T>C	3.37:g.184299398T>C			Q7Z740	Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.P995	ENST00000330394.2	37	c.2985	CCDS3268.1	3																																																																																			EPHB3	-	pirsf_Tyr_kinase_ephrin_rcpt,superfamily_SAM/pointed	ENSG00000182580		0.622	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB3	HGNC	protein_coding	OTTHUMT00000345413.1	8	0.00	0	T	NM_004443		184299398	184299398	+1	no_errors	ENST00000330394	ensembl	human	known	69_37n	silent	38	22.45	11	SNP	0.091	C
FAT2	2196	genome.wustl.edu	37	5	150925419	150925419	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A0SV-01A-11D-A099-09	TCGA-A2-A0SV-10A-01W-A097-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d3206c6-0ca8-4b2b-a160-b1719217f9c7	db8da47e-0daa-4ebc-81fa-756dacf71ca7	g.chr5:150925419T>C	ENST00000261800.5	-	9	5281	c.5269A>G	c.(5269-5271)Atg>Gtg	p.M1757V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1757	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTAAGAACATAGGAGCATTG	0.418																																						dbGAP											0													158.0	162.0	160.0					5																	150925419		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.5269A>G	5.37:g.150925419T>C	ENSP00000261800:p.Met1757Val		O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.M1757V	ENST00000261800.5	37	c.5269	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.357968	0.00214	.	.	ENSG00000086570	ENST00000261800	T	0.58940	0.3	5.25	-3.6	0.04570	Cadherin (2);Cadherin-like (1);	1.140920	0.06401	N	0.718773	T	0.18509	0.0444	N	0.00140	-2.01	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45249	-0.9274	10	0.02654	T	1	.	16.4391	0.83894	0.0:0.6804:0.0:0.3196	.	1757	Q9NYQ8	FAT2_HUMAN	V	1757	ENSP00000261800:M1757V	ENSP00000261800:M1757V	M	-	1	0	FAT2	150905612	0.000000	0.05858	0.001000	0.08648	0.651000	0.38670	-0.258000	0.08733	-0.598000	0.05806	0.383000	0.25322	ATG	FAT2	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000086570		0.418	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	162	0.00	0	T	NM_001447		150925419	150925419	-1	no_errors	ENST00000261800	ensembl	human	known	69_37n	missense	43	71.71	109	SNP	0.000	C
FAT3	120114	genome.wustl.edu	37	11	92543074	92543074	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0SV-01A-11D-A099-09	TCGA-A2-A0SV-10A-01W-A097-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d3206c6-0ca8-4b2b-a160-b1719217f9c7	db8da47e-0daa-4ebc-81fa-756dacf71ca7	g.chr11:92543074G>A	ENST00000298047.6	+	12	9330	c.9313G>A	c.(9313-9315)Gcc>Acc	p.A3105T	FAT3_ENST00000409404.2_Missense_Mutation_p.A3105T|FAT3_ENST00000525166.1_Missense_Mutation_p.A2955T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3105	Cadherin 28. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GATGGCCAAGGCCACTGACGG	0.522										TCGA Ovarian(4;0.039)																												dbGAP											0													77.0	78.0	78.0					11																	92543074		1887	4111	5998	-	-	-	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.9313G>A	11.37:g.92543074G>A	ENSP00000298047:p.Ala3105Thr		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.A3105T	ENST00000298047.6	37	c.9313		11	.	.	.	.	.	.	.	.	.	.	G	20.6	4.009895	0.75046	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.71461	-0.57;-0.57;-0.57	5.16	5.16	0.70880	.	.	.	.	.	D	0.91334	0.7267	H	0.99130	4.44	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.95031	0.8169	9	0.72032	D	0.01	.	18.6484	0.91419	0.0:0.0:1.0:0.0	.	3105	Q8TDW7-3	.	T	3105;3105;2955	ENSP00000298047:A3105T;ENSP00000387040:A3105T;ENSP00000432586:A2955T	ENSP00000298047:A3105T	A	+	1	0	FAT3	92182722	1.000000	0.71417	1.000000	0.80357	0.066000	0.16364	9.787000	0.99055	2.417000	0.82017	0.563000	0.77884	GCC	FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165323		0.522	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		75	0.00	0	G	NM_001008781		92543074	92543074	+1	no_errors	ENST00000298047	ensembl	human	known	69_37n	missense	55	30.38	24	SNP	1.000	A
FBN2	2201	genome.wustl.edu	37	5	127855061	127855061	+	Splice_Site	SNP	G	G	T			TCGA-A2-A0SV-01A-11D-A099-09	TCGA-A2-A0SV-10A-01W-A097-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d3206c6-0ca8-4b2b-a160-b1719217f9c7	db8da47e-0daa-4ebc-81fa-756dacf71ca7	g.chr5:127855061G>T	ENST00000508053.1	-	11	1507	c.533C>A	c.(532-534)cCt>cAt	p.P178H	FBN2_ENST00000262464.4_Splice_Site_p.P178H|FBN2_ENST00000508989.1_Splice_Site_p.P145H			P35556	FBN2_HUMAN	fibrillin 2	178	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTCACAGACAGCTGCATACAA	0.423																																						dbGAP											0													67.0	61.0	63.0					5																	127855061		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.533-1C>A	5.37:g.127855061G>T			B4DU01|Q59ES6	Missense_Mutation	SNP	pirsf_Fibrillin,pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.P178H	ENST00000508053.1	37	c.533	CCDS34222.1	5	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601912	0.87055	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989;ENST00000502468	D;D;D;T	0.87412	-2.17;-2.17;-2.25;0.13	5.17	5.17	0.71159	Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	D	0.95837	0.8645	H	0.96048	3.76	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.999;0.971;0.997;0.996	D	0.96199	0.9144	10	0.54805	T	0.06	.	18.8636	0.92282	0.0:0.0:1.0:0.0	.	145;178;145;178	P35556-2;E9PHW4;D6RJI3;P35556	.;.;.;FBN2_HUMAN	H	178;178;145;178	ENSP00000262464:P178H;ENSP00000424571:P178H;ENSP00000425596:P145H;ENSP00000424753:P178H	ENSP00000262464:P178H	P	-	2	0	FBN2	127882960	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	9.529000	0.98049	2.861000	0.98227	0.655000	0.94253	CCT	FBN2	-	pirsf_Fibrillin,pfscan_EG-like_dom	ENSG00000138829		0.423	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	76	0.00	0	G	NM_001999	Missense_Mutation	127855061	127855061	-1	no_errors	ENST00000262464	ensembl	human	known	69_37n	missense	53	18.46	12	SNP	1.000	T
HDAC9	9734	genome.wustl.edu	37	7	18801793	18801793	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A0SV-01A-11D-A099-09	TCGA-A2-A0SV-10A-01W-A097-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d3206c6-0ca8-4b2b-a160-b1719217f9c7	db8da47e-0daa-4ebc-81fa-756dacf71ca7	g.chr7:18801793G>T	ENST00000432645.2	+	14	2048	c.2048G>T	c.(2047-2049)cGa>cTa	p.R683L	HDAC9_ENST00000441542.2_Missense_Mutation_p.R686L|HDAC9_ENST00000401921.1_Missense_Mutation_p.R642L|HDAC9_ENST00000406451.4_Missense_Mutation_p.R683L	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	683	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ATTCAAGGTCGAAAAGCCAGC	0.448																																						dbGAP											0													71.0	69.0	70.0					7																	18801793		1910	4124	6034	-	-	-	SO:0001583	missense	0			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.2048G>T	7.37:g.18801793G>T	ENSP00000410337:p.Arg683Leu		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.R686L	ENST00000432645.2	37	c.2057	CCDS47555.1	7	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731790	0.89390	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	5.42	5.42	0.78866	Histone deacetylase domain (2);	0.000000	0.50627	D	0.000116	D	0.87928	0.6301	M	0.92026	3.265	0.80722	D	1	P;D;D;D;D;D	0.89917	0.457;1.0;1.0;1.0;1.0;1.0	B;D;D;D;D;D	0.79784	0.257;0.988;0.988;0.993;0.988;0.993	D	0.89420	0.3709	10	0.56958	D	0.05	-14.2841	19.5924	0.95520	0.0:0.0:1.0:0.0	.	683;642;686;683;683;661	Q9UKV0-4;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5;Q8N879	.;.;.;HDAC9_HUMAN;.;.	L	683;642;683;686;595	ENSP00000384657:R683L;ENSP00000383912:R642L;ENSP00000410337:R683L;ENSP00000408617:R686L	ENSP00000339165:R595L	R	+	2	0	HDAC9	18768318	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.365000	0.90108	2.689000	0.91719	0.655000	0.94253	CGA	HDAC9	-	pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk	ENSG00000048052		0.448	HDAC9-023	KNOWN	basic|CCDS	protein_coding	HDAC9	HGNC	protein_coding	OTTHUMT00000376176.1	87	0.00	0	G			18801793	18801793	+1	no_errors	ENST00000441542	ensembl	human	known	69_37n	missense	39	64.41	76	SNP	1.000	T
ITGA2B	3674	genome.wustl.edu	37	17	42454377	42454377	+	Splice_Site	SNP	C	C	T			TCGA-A2-A0SV-01A-11D-A099-09	TCGA-A2-A0SV-10A-01W-A097-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d3206c6-0ca8-4b2b-a160-b1719217f9c7	db8da47e-0daa-4ebc-81fa-756dacf71ca7	g.chr17:42454377C>T	ENST00000262407.5	-	22	2298	c.2267G>A	c.(2266-2268)aGc>aAc	p.S756N	ITGA2B_ENST00000353281.4_Splice_Site_p.S756N	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	756					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	AGGTCAGTACCTCCGTATCTG	0.612																																						dbGAP											0													74.0	57.0	62.0					17																	42454377		2202	4298	6500	-	-	-	SO:0001630	splice_region_variant	0				CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.2267+1G>A	17.37:g.42454377C>T			B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.S756N	ENST00000262407.5	37	c.2267	CCDS32665.1	17	.	.	.	.	.	.	.	.	.	.	C	24.6	4.547300	0.86022	.	.	ENSG00000005961	ENST00000262407;ENST00000353281	T;T	0.61859	0.07;0.07	4.9	4.9	0.64082	Integrin alpha-2 (1);	0.000000	0.41605	U	0.000849	T	0.80706	0.4674	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	D	0.84880	0.0830	9	.	.	.	.	15.6087	0.76696	0.0:1.0:0.0:0.0	.	354;756	Q59FA8;P08514	.;ITA2B_HUMAN	N	756	ENSP00000262407:S756N;ENSP00000340536:S756N	.	S	-	2	0	ITGA2B	39809903	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	4.806000	0.62569	2.545000	0.85829	0.561000	0.74099	AGC	ITGA2B	-	pfam_Integrin_alpha-2	ENSG00000005961		0.612	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA2B	HGNC	protein_coding	OTTHUMT00000439823.1	26	0.00	0	C		Missense_Mutation	42454377	42454377	-1	no_errors	ENST00000262407	ensembl	human	known	69_37n	missense	48	31.43	22	SNP	1.000	T
ITGA8	8516	genome.wustl.edu	37	10	15628600	15628600	+	Silent	SNP	C	C	T	rs145199076		TCGA-A2-A0SV-01A-11D-A099-09	TCGA-A2-A0SV-10A-01W-A097-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d3206c6-0ca8-4b2b-a160-b1719217f9c7	db8da47e-0daa-4ebc-81fa-756dacf71ca7	g.chr10:15628600C>T	ENST00000378076.3	-	23	2708	c.2355G>A	c.(2353-2355)gcG>gcA	p.A785A		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	785					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)	p.A785A(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TTTCCACCTGCGCTACAGCAG	0.363													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19480	0.0		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											144.0	126.0	132.0					10																	15628600		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2355G>A	10.37:g.15628600C>T			B0YJ31|Q5VX94	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.A785	ENST00000378076.3	37	c.2355	CCDS31155.1	10																																																																																			ITGA8	-	pfam_Integrin_alpha-2	ENSG00000077943		0.363	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA8	HGNC	protein_coding	OTTHUMT00000046987.1	194	0.00	0	C	NM_003638		15628600	15628600	-1	no_errors	ENST00000378076	ensembl	human	known	69_37n	silent	143	29.56	60	SNP	0.924	T
KMT2C	58508	genome.wustl.edu	37	7	151896496	151896496	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A0SV-01A-11D-A099-09	TCGA-A2-A0SV-10A-01W-A097-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d3206c6-0ca8-4b2b-a160-b1719217f9c7	db8da47e-0daa-4ebc-81fa-756dacf71ca7	g.chr7:151896496T>C	ENST00000262189.6	-	27	4359	c.4141A>G	c.(4141-4143)Ata>Gta	p.I1381V	KMT2C_ENST00000355193.2_Missense_Mutation_p.I1381V	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1381					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TCTAAACTTATCTTGCTTTGT	0.328																																						dbGAP											0													78.0	77.0	78.0					7																	151896496		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.4141A>G	7.37:g.151896496T>C	ENSP00000262189:p.Ile1381Val		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.I1381V	ENST00000262189.6	37	c.4141	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	T	9.845	1.191986	0.21954	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.82255	-1.59;-1.59	5.45	2.48	0.30137	.	0.480216	0.15426	N	0.262954	T	0.57902	0.2085	N	0.03608	-0.345	0.80722	D	1	B;B	0.11235	0.0;0.004	B;B	0.11329	0.0;0.006	T	0.44205	-0.9343	10	0.25106	T	0.35	.	2.4403	0.04492	0.1556:0.1139:0.4659:0.2647	.	1381;442	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	V	1381	ENSP00000262189:I1381V;ENSP00000347325:I1381V	ENSP00000262189:I1381V	I	-	1	0	MLL3	151527429	0.978000	0.34361	0.751000	0.31187	0.960000	0.62799	0.609000	0.24238	0.611000	0.30052	-0.173000	0.13275	ATA	MLL3	-	NULL	ENSG00000055609		0.328	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	130	0.00	0	T			151896496	151896496	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	missense	33	70.00	77	SNP	0.927	C
MORN5	254956	genome.wustl.edu	37	9	124936830	124936830	+	Silent	SNP	C	C	T			TCGA-A2-A0SV-01A-11D-A099-09	TCGA-A2-A0SV-10A-01W-A097-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d3206c6-0ca8-4b2b-a160-b1719217f9c7	db8da47e-0daa-4ebc-81fa-756dacf71ca7	g.chr9:124936830C>T	ENST00000373764.3	+	4	425	c.363C>T	c.(361-363)taC>taT	p.Y121Y	MORN5_ENST00000536616.1_Silent_p.Y121Y|MORN5_ENST00000486801.1_3'UTR	NM_198469.2	NP_940871.2	Q5VZ52	MORN5_HUMAN	MORN repeat containing 5	121								p.Y121Y(2)		endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						AGGGCTATTACGATTGTGGAG	0.463																																						dbGAP											2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)											103.0	100.0	101.0					9																	124936830		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK128877	CCDS6836.1, CCDS75894.1	9q34.11	2008-06-23	2008-06-23	2008-06-23	ENSG00000185681	ENSG00000185681			17841	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 113"", ""chromosome 9 open reading frame 18"""	C9orf113, C9orf18			Standard	XM_005251878		Approved	FLJ46909	uc004blw.2	Q5VZ52	OTTHUMG00000020599	ENST00000373764.3:c.363C>T	9.37:g.124936830C>T			B7Z7I5|Q6ZQN1	Silent	SNP	pfam_MORN,smart_MORN	p.Y121	ENST00000373764.3	37	c.363	CCDS6836.1	9																																																																																			MORN5	-	NULL	ENSG00000185681		0.463	MORN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MORN5	HGNC	protein_coding	OTTHUMT00000053910.2	137	0.00	0	C	NM_198469		124936830	124936830	+1	no_errors	ENST00000536616	ensembl	human	known	69_37n	silent	107	33.95	55	SNP	0.977	T
MOV10L1	54456	genome.wustl.edu	37	22	50553671	50553671	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0SV-01A-11D-A099-09	TCGA-A2-A0SV-10A-01W-A097-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d3206c6-0ca8-4b2b-a160-b1719217f9c7	db8da47e-0daa-4ebc-81fa-756dacf71ca7	g.chr22:50553671G>A	ENST00000262794.5	+	8	1338	c.1255G>A	c.(1255-1257)Gga>Aga	p.G419R	MOV10L1_ENST00000395858.3_Missense_Mutation_p.G419R|MOV10L1_ENST00000540615.1_Missense_Mutation_p.G399R|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.G419R	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	419					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)	p.G419*(1)|p.G399*(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CATCTGTGACGGAAAGTAAGG	0.498																																						dbGAP											2	Substitution - Nonsense(2)	lung(2)											93.0	104.0	100.0					22																	50553671		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.1255G>A	22.37:g.50553671G>A	ENSP00000262794:p.Gly419Arg		A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	superfamily_NA-bd_OB-fold-like	p.G419R	ENST00000262794.5	37	c.1255	CCDS14084.1	22	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190257	0.38707	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;T;D	0.85484	-1.8;-1.8;-1.38;-1.99	5.53	5.53	0.82687	.	0.145242	0.64402	D	0.000009	T	0.72309	0.3444	N	0.14661	0.345	0.80722	D	1	P;P;P;P	0.49358	0.923;0.727;0.607;0.607	B;B;B;B	0.35550	0.205;0.156;0.075;0.075	T	0.76822	-0.2817	10	0.44086	T	0.13	-20.1123	16.7549	0.85497	0.0:0.0:1.0:0.0	.	180;399;419;419	B7Z893;F5H403;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	R	419;419;419;399	ENSP00000438978:G419R;ENSP00000262794:G419R;ENSP00000379199:G419R;ENSP00000438542:G399R	ENSP00000262794:G419R	G	+	1	0	MOV10L1	48895798	0.993000	0.37304	0.807000	0.32361	0.005000	0.04900	5.285000	0.65633	2.763000	0.94921	0.563000	0.77884	GGA	MOV10L1	-	NULL	ENSG00000073146		0.498	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MOV10L1	HGNC	protein_coding	OTTHUMT00000075009.2	44	0.00	0	G	NM_018995		50553671	50553671	+1	no_errors	ENST00000262794	ensembl	human	known	69_37n	missense	33	28.26	13	SNP	0.948	A
MYL1	4632	genome.wustl.edu	37	2	211179766	211179766	+	Start_Codon_Del	DEL	T	T	-			TCGA-A2-A0SV-01A-11D-A099-09	TCGA-A2-A0SV-10A-01W-A097-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d3206c6-0ca8-4b2b-a160-b1719217f9c7	db8da47e-0daa-4ebc-81fa-756dacf71ca7	g.chr2:211179766delT	ENST00000352451.3	-	0	148					NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast						cardiac muscle contraction (GO:0060048)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|sarcomere (GO:0030017)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		TTTGGTGCCATTTTTTTTTTT	0.527																																						dbGAP											0										406,181,73,3588		24,5,3,350,0,0,176,1,68,1497	86.0	117.0	107.0			5.4	1.0	2	dbSNP_130	111	68,327,4,7851		0,1,0,67,0,0,326,0,4,3727	no	codingComplex	MYL1	NM_079420.2		24,6,3,417,0,0,502,1,72,5224	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		4.8364,15.5367,8.4734			211179766	474,508,77,11439	2199	4299	6498	-	-	-	SO:0001582	initiator_codon_variant	0				CCDS2390.1, CCDS2391.1	2q33-q34	2013-01-10	2006-09-29		ENSG00000168530	ENSG00000168530		"""Myosins / Light chain"", ""EF-hand domain containing"""	7582	protein-coding gene	gene with protein product		160780	"""myosin, light polypeptide 1, alkali; skeletal, fast"""			2304459, 3422212	Standard	NM_079422		Approved		uc002vec.3	P05976	OTTHUMG00000132992		2.37:g.211179766delT			B2R4N6|B2R4T6|P06741|Q6IBD5	Frame_Shift_Del	DEL	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.M1fs	ENST00000352451.3	37	c.1	CCDS2390.1	2																																																																																			MYL1	-	NULL	ENSG00000168530		0.527	MYL1-001	KNOWN	basic|CCDS	protein_coding	MYL1	HGNC	protein_coding	OTTHUMT00000256566.2	41	0.00	0	T	NM_079420		211179766	211179766	-1	no_errors	ENST00000352451	ensembl	human	known	69_37n	frame_shift_del	49	28.38	21	DEL	1.000	-
OGDHL	55753	genome.wustl.edu	37	10	50966465	50966465	+	Silent	SNP	G	G	A			TCGA-A2-A0SV-01A-11D-A099-09	TCGA-A2-A0SV-10A-01W-A097-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d3206c6-0ca8-4b2b-a160-b1719217f9c7	db8da47e-0daa-4ebc-81fa-756dacf71ca7	g.chr10:50966465G>A	ENST00000374103.4	-	2	259	c.174C>T	c.(172-174)gcC>gcT	p.A58A	OGDHL_ENST00000432695.1_Intron|OGDHL_ENST00000419399.1_Silent_p.A58A	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	58					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TTTCCAACCAGGCGAAGTACA	0.662																																						dbGAP											0													67.0	70.0	69.0					10																	50966465		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.174C>T	10.37:g.50966465G>A			A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Silent	SNP	pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.A58	ENST00000374103.4	37	c.174	CCDS7234.1	10																																																																																			OGDHL	-	pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	ENSG00000197444		0.662	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGDHL	HGNC	protein_coding	OTTHUMT00000048007.1	8	0.00	0	G	NM_018245		50966465	50966465	-1	no_errors	ENST00000374103	ensembl	human	known	69_37n	silent	9	30.77	4	SNP	0.996	A
OR51A2	401667	genome.wustl.edu	37	11	4976683	4976683	+	Silent	SNP	G	G	A			TCGA-A2-A0SV-01A-11D-A099-09	TCGA-A2-A0SV-10A-01W-A097-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d3206c6-0ca8-4b2b-a160-b1719217f9c7	db8da47e-0daa-4ebc-81fa-756dacf71ca7	g.chr11:4976683G>A	ENST00000380371.1	-	1	260	c.261C>T	c.(259-261)ttC>ttT	p.F87F	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATTGAACAGGAAGATGCTTA	0.463																																						dbGAP											0													113.0	82.0	93.0					11																	4976683		1979	3671	5650	-	-	-	SO:0001819	synonymous_variant	0			AB065797	CCDS31368.1	11p15.4	2012-08-09			ENSG00000205496	ENSG00000205496		"""GPCR / Class A : Olfactory receptors"""	14764	protein-coding gene	gene with protein product							Standard	NM_001004748		Approved		uc010qyt.2	Q8NGJ7	OTTHUMG00000066602	ENST00000380371.1:c.261C>T	11.37:g.4976683G>A				Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.F87	ENST00000380371.1	37	c.261	CCDS31368.1	11																																																																																			OR51A2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000205496		0.463	OR51A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51A2	HGNC	protein_coding	OTTHUMT00000142809.1	110	0.00	0	G	NM_001004748		4976683	4976683	-1	no_errors	ENST00000380371	ensembl	human	known	69_37n	silent	34	59.52	50	SNP	0.001	A
OR52E4	390081	genome.wustl.edu	37	11	5905807	5905807	+	Silent	SNP	C	C	T			TCGA-A2-A0SV-01A-11D-A099-09	TCGA-A2-A0SV-10A-01W-A097-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d3206c6-0ca8-4b2b-a160-b1719217f9c7	db8da47e-0daa-4ebc-81fa-756dacf71ca7	g.chr11:5905807C>T	ENST00000316987.2	+	1	307	c.285C>T	c.(283-285)agC>agT	p.S95S		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGAGATCAGCTTTGGGGGAT	0.458																																						dbGAP											0													110.0	98.0	102.0					11																	5905807		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"""GPCR / Class A : Olfactory receptors"""	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.285C>T	11.37:g.5905807C>T			Q6IFG0	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.S95	ENST00000316987.2	37	c.285	CCDS31401.1	11																																																																																			OR52E4	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000180974		0.458	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52E4	HGNC	protein_coding	OTTHUMT00000401146.1	91	0.00	0	C	NM_001005165		5905807	5905807	+1	no_errors	ENST00000316987	ensembl	human	known	69_37n	silent	82	25.89	29	SNP	0.006	T
PCDHGB2	56103	genome.wustl.edu	37	5	140740551	140740551	+	Silent	SNP	T	T	C			TCGA-A2-A0SV-01A-11D-A099-09	TCGA-A2-A0SV-10A-01W-A097-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d3206c6-0ca8-4b2b-a160-b1719217f9c7	db8da47e-0daa-4ebc-81fa-756dacf71ca7	g.chr5:140740551T>C	ENST00000522605.1	+	1	849	c.849T>C	c.(847-849)aaT>aaC	p.N283N	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	283	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTTCATAATGTGGACGAAC	0.453																																						dbGAP											0													42.0	42.0	42.0					5																	140740551		1956	4145	6101	-	-	-	SO:0001819	synonymous_variant	0			AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.849T>C	5.37:g.140740551T>C			Q3MIJ3|Q9UN65	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N283	ENST00000522605.1	37	c.849	CCDS54924.1	5																																																																																			PCDHGB2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253910		0.453	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB2	HGNC	protein_coding	OTTHUMT00000374741.1	30	0.00	0	T	NM_018923		140740551	140740551	+1	no_errors	ENST00000522605	ensembl	human	known	69_37n	silent	38	36.67	22	SNP	0.001	C
PHACTR1	221692	genome.wustl.edu	37	6	13230284	13230286	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-A2-A0SV-01A-11D-A099-09	TCGA-A2-A0SV-10A-01W-A097-09	AGG	AGG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d3206c6-0ca8-4b2b-a160-b1719217f9c7	db8da47e-0daa-4ebc-81fa-756dacf71ca7	g.chr6:13230284_13230286delAGG	ENST00000379350.1	+	9	1379_1381	c.1250_1252delAGG	c.(1249-1254)aaggtc>atc	p.417_418KV>I	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_In_Frame_Del_p.417_418KV>I|PHACTR1_ENST00000457702.2_In_Frame_Del_p.272_273KV>I			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	417					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CTGGCCATGAAGGTCTGCAGGAA	0.537																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.1250_1252delAGG	6.37:g.13230284_13230286delAGG	ENSP00000368655:p.Lys417_Val418delinsIle		A8K1V2|Q3MJ93|Q5JSJ2	In_Frame_Del	DEL	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.KV486in_frame_delI	ENST00000379350.1	37	c.1457_1459		6																																																																																			PHACTR1	-	NULL	ENSG00000112137		0.537	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	PHACTR1	HGNC	protein_coding	OTTHUMT00000039876.1	45	0.00	0	AGG	XM_166420		13230284	13230286	+1	no_errors	ENST00000432934	ensembl	human	known	69_37n	in_frame_del	49	28.57	20	DEL	1.000:1.000:1.000	-
PPM1H	57460	genome.wustl.edu	37	12	63042385	63042385	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0SV-01A-11D-A099-09	TCGA-A2-A0SV-10A-01W-A097-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d3206c6-0ca8-4b2b-a160-b1719217f9c7	db8da47e-0daa-4ebc-81fa-756dacf71ca7	g.chr12:63042385G>A	ENST00000228705.6	-	10	1729	c.1429C>T	c.(1429-1431)Cgt>Tgt	p.R477C	PPM1H_ENST00000551214.1_5'UTR|snoU13_ENST00000459527.1_RNA	NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	477	PP2C-like.						phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		CCCCGGGCACGCATCACCAGG	0.527																																						dbGAP											0													56.0	59.0	58.0					12																	63042385		2098	4243	6341	-	-	-	SO:0001583	missense	0			AB032983	CCDS44934.1	12q14.1	2012-04-17	2010-03-05	2004-03-26	ENSG00000111110	ENSG00000111110	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	18583	protein-coding gene	gene with protein product	"""neurite extension-related protein phosphatase related to PP2C"""		"""ras homolog gene family, member C like 1"", ""protein phosphatase 1H (PP2C domain containing)"""	ARHCL1			Standard	NM_020700		Approved	KIAA1157, FLJ13253, NERPP-2C	uc001srk.3	Q9ULR3	OTTHUMG00000169990	ENST00000228705.6:c.1429C>T	12.37:g.63042385G>A	ENSP00000228705:p.Arg477Cys		B1Q2A9|B2RXG4|Q6PI86	Missense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.R477C	ENST00000228705.6	37	c.1429	CCDS44934.1	12	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861688	0.91433	.	.	ENSG00000111110	ENST00000228705	T	0.10005	2.92	5.93	5.93	0.95920	Protein phosphatase 2C-like (4);	0.122569	0.56097	D	0.000035	T	0.25082	0.0609	L	0.38531	1.155	0.80722	D	1	D	0.76494	0.999	D	0.67725	0.953	T	0.00180	-1.1948	9	.	.	.	3.064	20.3507	0.98813	0.0:0.0:1.0:0.0	.	477	Q9ULR3	PPM1H_HUMAN	C	477	ENSP00000228705:R477C	.	R	-	1	0	PPM1H	61328652	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.447000	0.66606	2.808000	0.96608	0.655000	0.94253	CGT	PPM1H	-	superfamily_PP2C-like,smart_PP2C-like	ENSG00000111110		0.527	PPM1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1H	HGNC	protein_coding	OTTHUMT00000406760.2	105	0.00	0	G	NM_020700		63042385	63042385	-1	no_errors	ENST00000228705	ensembl	human	known	69_37n	missense	81	34.92	44	SNP	1.000	A
PTEN	5728	genome.wustl.edu	37	10	89685293	89685298	+	In_Frame_Del	DEL	ACCATT	ACCATT	-	rs587781535|rs587780005		TCGA-A2-A0SV-01A-11D-A099-09	TCGA-A2-A0SV-10A-01W-A097-09	ACCATT	ACCATT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d3206c6-0ca8-4b2b-a160-b1719217f9c7	db8da47e-0daa-4ebc-81fa-756dacf71ca7	g.chr10:89685293_89685298delACCATT	ENST00000371953.3	+	3	1545_1550	c.188_193delACCATT	c.(187-195)aaccattac>aac	p.HY64del		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	64	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(6)|p.R55fs*1(5)|p.N63fs*10(3)|p.N63fs*36(3)|p.Y27fs*1(2)|p.N63fs*11(1)|p.Y65N(1)|p.V54fs*29(1)|p.Y65D(1)|p.H64fs*9(1)|p.R55_L70>S(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAGCATAAAAACCATTACAAGATATA	0.272		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												dbGAP	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	63	Whole gene deletion(37)|Deletion - Frameshift(16)|Unknown(6)|Substitution - Missense(2)|Insertion - Frameshift(1)|Complex - deletion inframe(1)	prostate(16)|central_nervous_system(13)|endometrium(10)|skin(7)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(3)|urinary_tract(2)|breast(2)|soft_tissue(1)																																								-	-	-	SO:0001651	inframe_deletion	0	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.188_193delACCATT	10.37:g.89685293_89685298delACCATT	ENSP00000361021:p.His64_Tyr65del		B2R904|F2YHV0|O00633|O02679|Q6ICT7	In_Frame_Del	DEL	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.HY64in_frame_del	ENST00000371953.3	37	c.188_193	CCDS31238.1	10																																																																																			PTEN	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ	ENSG00000171862		0.272	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	104	0.00	0	ACCATT	NM_000314		89685293	89685298	+1	no_errors	ENST00000371953	ensembl	human	known	69_37n	in_frame_del	41	33.87	21	DEL	1.000:1.000:1.000:1.000:1.000:1.000	-
SLC6A4	6532	genome.wustl.edu	37	17	28545941	28545941	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0SV-01A-11D-A099-09	TCGA-A2-A0SV-10A-01W-A097-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d3206c6-0ca8-4b2b-a160-b1719217f9c7	db8da47e-0daa-4ebc-81fa-756dacf71ca7	g.chr17:28545941G>A	ENST00000401766.2	-	3	864	c.352C>T	c.(352-354)Ctc>Ttc	p.L118F	SLC6A4_ENST00000261707.3_Missense_Mutation_p.L118F			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	118					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	TAGGGGAGGAGGAATGCCCCT	0.522																																						dbGAP											0													111.0	103.0	106.0					17																	28545941		2203	4300	6503	-	-	-	SO:0001583	missense	0			L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"""Solute carriers"""	11050	protein-coding gene	gene with protein product	"""serotonin transporter 1"""	182138	"""solute carrier family 6 (neurotransmitter transporter, serotonin), member 4"", ""5-hydroxytryptamine (serotonin) transporter"", ""obsessive-compulsive disorder 1"""	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.352C>T	17.37:g.28545941G>A	ENSP00000385822:p.Leu118Phe		Q5EE02	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfam_Na/ntran_symport_serotonin_N,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_serotonin_N	p.L118F	ENST00000401766.2	37	c.352	CCDS11256.1	17	.	.	.	.	.	.	.	.	.	.	G	27.0	4.794996	0.90453	.	.	ENSG00000108576	ENST00000394821;ENST00000401766;ENST00000261707	T;T	0.81415	-1.49;-1.49	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.90147	0.6921	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90394	0.4397	10	0.62326	D	0.03	.	18.8371	0.92167	0.0:0.0:1.0:0.0	.	118	P31645	SC6A4_HUMAN	F	160;118;118	ENSP00000385822:L118F;ENSP00000261707:L118F	ENSP00000261707:L118F	L	-	1	0	SLC6A4	25570067	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.630000	0.67805	2.689000	0.91719	0.655000	0.94253	CTC	SLC6A4	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	ENSG00000108576		0.522	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A4	HGNC	protein_coding	OTTHUMT00000256115.3	69	0.00	0	G	NM_001045		28545941	28545941	-1	no_errors	ENST00000261707	ensembl	human	known	69_37n	missense	71	33.02	35	SNP	1.000	A
SORBS2	8470	genome.wustl.edu	37	4	186544158	186544158	+	Missense_Mutation	SNP	A	A	T			TCGA-A2-A0SV-01A-11D-A099-09	TCGA-A2-A0SV-10A-01W-A097-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d3206c6-0ca8-4b2b-a160-b1719217f9c7	db8da47e-0daa-4ebc-81fa-756dacf71ca7	g.chr4:186544158A>T	ENST00000284776.7	-	13	2922	c.2413T>A	c.(2413-2415)Tgc>Agc	p.C805S	SORBS2_ENST00000431808.1_Missense_Mutation_p.C805S|SORBS2_ENST00000418609.1_Missense_Mutation_p.C709S|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.C905S|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000448662.2_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	805					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ATTCTCCCGCAGTCATTCTGG	0.612																																					Esophageal Squamous(153;41 2433 9491 36028)	dbGAP											0													71.0	78.0	76.0					4																	186544158		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.2413T>A	4.37:g.186544158A>T	ENSP00000284776:p.Cys805Ser		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.C805S	ENST00000284776.7	37	c.2413	CCDS3845.1	4	.	.	.	.	.	.	.	.	.	.	A	0.019	-1.453022	0.01080	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	T;T;T;T	0.33865	1.5;1.5;1.39;1.48	5.92	0.479	0.16796	.	0.340957	0.35291	N	0.003320	T	0.20659	0.0497	L	0.28274	0.84	0.35982	D	0.836106	B;B;B	0.19706	0.038;0.03;0.017	B;B;B	0.16722	0.016;0.011;0.016	T	0.19386	-1.0307	10	0.16896	T	0.51	-7.1948	9.1526	0.36973	0.5876:0.3511:0.0613:0.0	.	709;905;805	B7Z3X6;B3KPQ7;O94875	.;.;SRBS2_HUMAN	S	805;805;709;905	ENSP00000284776:C805S;ENSP00000411764:C805S;ENSP00000397482:C709S;ENSP00000347852:C905S	ENSP00000284776:C805S	C	-	1	0	SORBS2	186781152	1.000000	0.71417	0.022000	0.16811	0.000000	0.00434	5.112000	0.64634	-0.104000	0.12154	-1.593000	0.00842	TGC	SORBS2	-	NULL	ENSG00000154556		0.612	SORBS2-001	KNOWN	basic|CCDS	protein_coding	SORBS2	HGNC	protein_coding	OTTHUMT00000347944.3	35	0.00	0	A	NM_003603		186544158	186544158	-1	no_errors	ENST00000284776	ensembl	human	known	69_37n	missense	32	42.86	24	SNP	0.444	T
TP53	7157	genome.wustl.edu	37	17	7579343	7579351	+	In_Frame_Del	DEL	TGCAAGAAG	TGCAAGAAG	-	rs587781642		TCGA-A2-A0SV-01A-11D-A099-09	TCGA-A2-A0SV-10A-01W-A097-09	TGCAAGAAG	TGCAAGAAG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d3206c6-0ca8-4b2b-a160-b1719217f9c7	db8da47e-0daa-4ebc-81fa-756dacf71ca7	g.chr17:7579343_7579351delTGCAAGAAG	ENST00000269305.4	-	4	525_533	c.336_344delCTTCTTGCA	c.(334-345)ggcttcttgcat>ggt	p.FLH113del	TP53_ENST00000413465.2_In_Frame_Del_p.FLH113del|TP53_ENST00000455263.2_In_Frame_Del_p.FLH113del|TP53_ENST00000445888.2_In_Frame_Del_p.FLH113del|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_In_Frame_Del_p.FLH113del|TP53_ENST00000420246.2_In_Frame_Del_p.FLH113del	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	113	Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		F -> C (in sporadic cancers; somatic mutation).|F -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|F -> I (in a sporadic cancer; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.		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.F113C(11)|p.0?(8)|p.F113V(7)|p.L114*(4)|p.F113S(4)|p.F113L(3)|p.G59fs*23(3)|p.F113del(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.G112fs*9(1)|p.H115fs*27(1)|p.Y107fs*44(1)|p.H115fs*8(1)|p.G112G(1)|p.G112_S116delGFLHS(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.L114fs*30(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)	TGTCCCAGAATGCAAGAAGCCCAGACGGA	0.593		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)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	54	Substitution - Missense(25)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Substitution - Nonsense(4)|Substitution - coding silent(1)	breast(9)|upper_aerodigestive_tract(8)|lung(7)|urinary_tract(6)|large_intestine(4)|central_nervous_system(4)|bone(4)|oesophagus(3)|ovary(3)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|biliary_tract(1)|liver(1)|autonomic_ganglia(1)	GRCh37	CD084237	TP53	D																																				-	-	-	SO:0001651	inframe_deletion	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;	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.336_344delCTTCTTGCA	17.37:g.7579343_7579351delTGCAAGAAG	ENSP00000269305:p.Phe113_His115del		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	In_Frame_Del	DEL	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.FLH113in_frame_del	ENST00000269305.4	37	c.344_336	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.593	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	99	0.00	0	TGCAAGAAG	NM_000546		7579343	7579351	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	in_frame_del	7	46.15	6	DEL	0.930:0.938:0.948:0.998:1.000:1.000:1.000:0.999:0.805	-
VKORC1	79001	genome.wustl.edu	37	16	31104727	31104727	+	Silent	SNP	G	G	A			TCGA-A2-A0SV-01A-11D-A099-09	TCGA-A2-A0SV-10A-01W-A097-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d3206c6-0ca8-4b2b-a160-b1719217f9c7	db8da47e-0daa-4ebc-81fa-756dacf71ca7	g.chr16:31104727G>A	ENST00000394975.2	-	2	416	c.189C>T	c.(187-189)ttC>ttT	p.F63F	VKORC1_ENST00000498155.1_Missense_Mutation_p.R96W|VKORC1_ENST00000354895.4_Intron|VKORC1_ENST00000300851.6_Missense_Mutation_p.R84W|VKORC1_ENST00000319788.7_Silent_p.F63F|VKORC1_ENST00000394971.3_Missense_Mutation_p.R95W|RP11-196G11.1_ENST00000529564.1_Silent_p.F63F	NM_024006.4	NP_076869.1	Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	63					blood coagulation (GO:0007596)|bone development (GO:0060348)|cellular protein metabolic process (GO:0044267)|drug metabolic process (GO:0017144)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|vitamin K metabolic process (GO:0042373)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	quinone binding (GO:0048038)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicoumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	CCACCAGCCCGAAACCCCTGC	0.552																																						dbGAP											0													103.0	77.0	86.0					16																	31104727		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0				CCDS10703.1, CCDS10704.1	16p11.2	2008-02-05	2004-07-23		ENSG00000167397	ENSG00000167397			23663	protein-coding gene	gene with protein product		608547	"""vitamin K dependent clotting factors deficiency 2"""	VKCFD2			Standard	NM_024006		Approved		uc002eas.3	Q9BQB6	OTTHUMG00000047408	ENST00000394975.2:c.189C>T	16.37:g.31104727G>A			A6NIQ6|B2R4Z6|Q6UX90|Q7Z2R4	Missense_Mutation	SNP	NULL	p.R96W	ENST00000394975.2	37	c.286	CCDS10703.1	16	.	.	.	.	.	.	.	.	.	.	G	13.29	2.192536	0.38707	.	.	ENSG00000167397	ENST00000300851;ENST00000394971;ENST00000498155	D	0.97041	-4.22	6.17	-4.17	0.03857	.	.	.	.	.	D	0.95784	0.8628	.	.	.	0.24042	N	0.996078	.	.	.	.	.	.	D	0.90461	0.4446	6	0.40728	T	0.16	-42.7049	14.849	0.70281	0.7349:0.0:0.2651:0.0	.	.	.	.	W	84;95;96	ENSP00000300851:R84W	ENSP00000300851:R84W	R	-	1	2	VKORC1	31012228	0.577000	0.26708	0.924000	0.36721	0.784000	0.44337	-0.286000	0.08399	-0.570000	0.06022	-0.150000	0.13652	CGG	VKORC1	-	NULL	ENSG00000167397		0.552	VKORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VKORC1	HGNC	protein_coding	OTTHUMT00000108582.1	66	0.00	0	G	NM_024006		31104727	31104727	-1	no_errors	ENST00000498155	ensembl	human	putative	69_37n	missense	32	39.62	21	SNP	0.840	A
