#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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ABCD1	215	genome.wustl.edu	37	X	152990941	152990941	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chrX:152990941C>T	ENST00000218104.3	+	1	619	c.220C>T	c.(220-222)Cgg>Tgg	p.R74W	BCAP31_ENST00000441714.1_5'Flank|BCAP31_ENST00000345046.6_5'Flank|ABCD1_ENST00000370129.4_5'Flank|BCAP31_ENST00000458587.2_5'Flank	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	74	Interaction with PEX19.				alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATTCCTGCAGCGGCTCCTGTG	0.741																																																	0													5.0	7.0	6.0					X																	152990941		2037	3980	6017	SO:0001583	missense	215			Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"""ATP binding cassette transporters / subfamily D"""	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.220C>T	X.37:g.152990941C>T	ENSP00000218104:p.Arg74Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6GTZ2	Missense_Mutation	SNP	pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_FA_transporter	p.R74W	ENST00000218104.3	37	c.220	CCDS14728.1	X	.	.	.	.	.	.	.	.	.	.	C	16.16	3.045084	0.55110	.	.	ENSG00000101986	ENST00000218104	D	0.99706	-6.47	5.28	5.28	0.74379	ABC transporter, N-terminal (1);	0.000000	0.64402	D	0.000001	D	0.99619	0.9861	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.97828	1.0261	10	0.87932	D	0	-18.0611	11.8447	0.52376	0.1751:0.8249:0.0:0.0	.	74	P33897	ABCD1_HUMAN	W	74	ENSP00000218104:R74W	ENSP00000218104:R74W	R	+	1	2	ABCD1	152644135	0.880000	0.30214	1.000000	0.80357	0.579000	0.36224	1.594000	0.36697	2.189000	0.69895	0.436000	0.28706	CGG	ABCD1	-	pfam_ABC_Ald_N,tigrfam_FA_transporter		0.741	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD1	HGNC	protein_coding	OTTHUMT00000061041.1	C	NM_000033		152990941	+1	no_errors	ENST00000218104	ensembl	human	known	70_37	missense	SNP	0.849	T
ADCY2	108	genome.wustl.edu	37	5	7396481	7396481	+	Silent	SNP	C	C	T	rs530639895	byFrequency	TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr5:7396481C>T	ENST00000338316.4	+	1	161	c.72C>T	c.(70-72)gaC>gaT	p.D24D		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	24					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GCGGCGGAGACGGGCTGCCGC	0.721													C|||	4	0.000798722	0.0	0.0	5008	,	,		3463	0.004		0.0	False		,,,				2504	0.0																0													17.0	16.0	16.0					5																	7396481		2170	4260	6430	SO:0001819	synonymous_variant	108			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.72C>T	5.37:g.7396481C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.D24	ENST00000338316.4	37	c.72	CCDS3872.2	5																																																																																			ADCY2	-	NULL		0.721	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY2	HGNC	protein_coding	OTTHUMT00000206930.2	C	NM_020546		7396481	+1	no_errors	ENST00000338316	ensembl	human	known	70_37	silent	SNP	0.030	T
AFM	173	genome.wustl.edu	37	4	74354469	74354469	+	Missense_Mutation	SNP	G	G	T	rs149021212		TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr4:74354469G>T	ENST00000226355.3	+	7	929	c.836G>T	c.(835-837)cGt>cTt	p.R279L		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	279	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CAGTGCATCCGTGACACGGTG	0.363																																																	0													139.0	139.0	139.0					4																	74354469		2203	4300	6503	SO:0001583	missense	173			L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.836G>T	4.37:g.74354469G>T	ENSP00000226355:p.Arg279Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin_subgr,prints_Serum_albumin,prints_Alpha-fetoprotein	p.R279L	ENST00000226355.3	37	c.836	CCDS3557.1	4	.	.	.	.	.	.	.	.	.	.	G	11.33	1.606514	0.28623	.	.	ENSG00000079557	ENST00000226355	T	0.73363	-0.74	5.27	-3.65	0.04502	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.769783	0.12691	N	0.447209	T	0.63954	0.2555	L	0.43646	1.37	0.09310	N	1	B	0.25904	0.137	B	0.26094	0.066	T	0.54180	-0.8332	10	0.72032	D	0.01	.	12.024	0.53360	0.5981:0.0:0.4019:0.0	.	279	P43652	AFAM_HUMAN	L	279	ENSP00000226355:R279L	ENSP00000226355:R279L	R	+	2	0	AFM	74573333	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.456000	0.02377	-0.946000	0.03677	0.655000	0.94253	CGT	AFM	-	pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin_subgr		0.363	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFM	HGNC	protein_coding	OTTHUMT00000252275.2	G			74354469	+1	no_errors	ENST00000226355	ensembl	human	known	70_37	missense	SNP	0.000	T
AFMID	125061	genome.wustl.edu	37	17	76203007	76203007	+	Missense_Mutation	SNP	A	A	G	rs575961186		TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr17:76203007A>G	ENST00000327898.5	+	11	925	c.916A>G	c.(916-918)Atc>Gtc	p.I306V	AFMID_ENST00000589664.1_3'UTR|AFMID_ENST00000588800.1_3'UTR|AFMID_ENST00000409257.5_Missense_Mutation_p.I301V|AFMID_ENST00000591952.1_Missense_Mutation_p.N57S					arylformamidase											autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			CTTGAAAACAATCTTCCAGTA	0.483																																																	0													149.0	145.0	146.0					17																	76203007		2203	4300	6503	SO:0001583	missense	125061			BX648442	CCDS32750.2, CCDS45801.1	17q25.3	2005-11-09			ENSG00000183077	ENSG00000183077	3.5.1.9		20910	protein-coding gene	gene with protein product							Standard	NR_027083		Approved	DKFZp686F03259, KF	uc002juz.3	Q63HM1	OTTHUMG00000153957	ENST00000327898.5:c.916A>G	17.37:g.76203007A>G	ENSP00000328938:p.Ile306Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_AB_hydrolase_3	p.I306V	ENST00000327898.5	37	c.916	CCDS45801.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.330|5.330	0.246265|0.246265	0.10130|0.10130	.|.	.|.	ENSG00000183077|ENSG00000183077	ENST00000409257;ENST00000327898|ENST00000392388	.|.	.|.	.|.	4.53|4.53	3.45|3.45	0.39498|0.39498	.|.	0.235852|.	0.42964|.	N|.	0.000627|.	T|T	0.46464|0.46464	0.1394|0.1394	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	B;B|.	0.26483|.	0.093;0.15|.	B;B|.	0.20577|.	0.013;0.03|.	T|T	0.44787|0.44787	-0.9305|-0.9305	9|6	0.41790|0.87932	T|D	0.15|0	-28.5946|-28.5946	7.5376|7.5376	0.27719|0.27719	0.8996:0.0:0.1004:0.0|0.8996:0.0:0.1004:0.0	.|.	301;306|.	Q63HM1;Q63HM1-2|.	AFMID_HUMAN;.|.	V|S	301;306|57	.|.	ENSP00000328938:I306V|ENSP00000387090:N57S	I|N	+|+	1|2	0|0	AFMID|AFMID	73714602|73714602	0.818000|0.818000	0.29161|0.29161	0.794000|0.794000	0.32065|0.32065	0.044000|0.044000	0.14063|0.14063	1.337000|1.337000	0.33862|0.33862	0.765000|0.765000	0.33221|0.33221	0.491000|0.491000	0.48974|0.48974	ATC|AAT	AFMID	-	NULL		0.483	AFMID-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFMID	HGNC	protein_coding	OTTHUMT00000333203.1	A	XM_058889		76203007	+1	no_errors	ENST00000327898	ensembl	human	known	70_37	missense	SNP	0.984	G
AKAP8L	26993	genome.wustl.edu	37	19	15512270	15512270	+	Silent	SNP	G	G	T			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr19:15512270G>T	ENST00000397410.5	-	5	637	c.507C>A	c.(505-507)cgC>cgA	p.R169R	AKAP8L_ENST00000595465.2_Silent_p.R108R|AKAP8L_ENST00000595879.1_5'Flank	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	169						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TGCCACGCATGCGGAACTGGT	0.642																																																	0													54.0	55.0	55.0					19																	15512270		2098	4202	6300	SO:0001819	synonymous_variant	26993			BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"""neighbor of A kinase anchoring protein 95"""	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.507C>A	19.37:g.15512270G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Silent	SNP	pfam_AKAP95	p.R169	ENST00000397410.5	37	c.507	CCDS46005.1	19																																																																																			AKAP8L	-	NULL		0.642	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP8L	HGNC	protein_coding	OTTHUMT00000461301.2	G	NM_014371		15512270	-1	no_errors	ENST00000397410	ensembl	human	known	70_37	silent	SNP	1.000	T
ANKRD20A4	728747	genome.wustl.edu	37	9	69416171	69416171	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr9:69416171A>G	ENST00000357336.3	+	12	1399	c.1118A>G	c.(1117-1119)cAa>cGa	p.Q373R		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	373										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						GAAGAGCAACAAAGGCATGAA	0.328																																																	0													44.0	57.0	53.0					9																	69416171		999	2118	3117	SO:0001583	missense	728747				CCDS43828.1	9q21.11	2013-01-10			ENSG00000172014	ENSG00000172014		"""Ankyrin repeat domain containing"""	31982	protein-coding gene	gene with protein product							Standard	NM_001098805		Approved	OTTHUMG00000066855	uc004afn.3	Q4UJ75	OTTHUMG00000066855	ENST00000357336.3:c.1118A>G	9.37:g.69416171A>G	ENSP00000349891:p.Gln373Arg	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.Q373R	ENST00000357336.3	37	c.1118	CCDS43828.1	9	.	.	.	.	.	.	.	.	.	.	A	3.836	-0.034852	0.07543	.	.	ENSG00000172014	ENST00000357336	T	0.35048	1.33	2.43	-0.752	0.11072	.	.	.	.	.	T	0.20820	0.0501	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20806	-1.0264	9	0.35671	T	0.21	.	2.7907	0.05387	0.4802:0.2628:0.0:0.257	.	373	Q4UJ75	A20A4_HUMAN	R	373	ENSP00000349891:Q373R	ENSP00000349891:Q373R	Q	+	2	0	ANKRD20A4	68705991	0.143000	0.22626	0.000000	0.03702	0.004000	0.04260	1.005000	0.29834	-0.287000	0.09064	0.155000	0.16302	CAA	ANKRD20A4	-	NULL		0.328	ANKRD20A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD20A4	HGNC	protein_coding	OTTHUMT00000143287.3	A	NM_001098805		69416171	+1	no_errors	ENST00000357336	ensembl	human	known	70_37	missense	SNP	0.001	G
ANKRD20A5P	440482	genome.wustl.edu	37	18	14234762	14234762	+	IGR	SNP	T	T	C			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr18:14234762T>C								RNU6-316P (43957 upstream) : RP11-757O6.1 (9861 downstream)																							CATGGAGACTTAAATACAGAT	0.279																																																	0																																										SO:0001628	intergenic_variant	440482																															18.37:g.14234762T>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL		37	NULL		18																																																																																			ANKRD20A5P	-	-	0	0.279					ANKRD20A5P	HGNC			T			14234762	+1	no_errors	ENST00000577614	ensembl	human	known	70_37	rna	SNP	0.039	C
AP3S1	1176	genome.wustl.edu	37	5	115238600	115238600	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr5:115238600G>A	ENST00000316788.7	+	5	921	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	AP3S1_ENST00000505423.1_Intron	NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	122					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transport (GO:0006886)	AP-3 adaptor complex (GO:0030123)|AP-type membrane coat adaptor complex (GO:0030119)|Golgi apparatus (GO:0005794)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		TATTCTTGCAGAAATGGTGAT	0.318																																																	0													77.0	75.0	76.0					5																	115238600		2202	4300	6502	SO:0001583	missense	1176			D63643	CCDS4123.1	5q22	2010-06-29			ENSG00000177879	ENSG00000177879			2013	protein-coding gene	gene with protein product		601507		CLAPS3		8697810, 9118953	Standard	NM_001284		Approved		uc003krl.3	Q92572	OTTHUMG00000128887	ENST00000316788.7:c.364G>A	5.37:g.115238600G>A	ENSP00000325369:p.Glu122Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O00647|O00676|O00721|O00727|Q53XL4|Q6ICQ2	Missense_Mutation	SNP	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu	p.E122K	ENST00000316788.7	37	c.364	CCDS4123.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.536794	0.96460	.	.	ENSG00000177879	ENST00000316788	T	0.61510	0.1	5.94	5.94	0.96194	Longin-like (1);AP complex, mu/sigma subunit (1);	0.050313	0.85682	N	0.000000	D	0.85687	0.5754	H	0.98089	4.145	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.68765	0.96;0.952	D	0.90270	0.4307	10	0.87932	D	0	-10.6849	19.9544	0.97215	0.0:0.0:1.0:0.0	.	122;122	Q92572;F5H459	AP3S1_HUMAN;.	K	122	ENSP00000325369:E122K	ENSP00000325369:E122K	E	+	1	0	AP3S1	115266499	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.775000	0.98995	2.816000	0.96949	0.563000	0.77884	GAA	AP3S1	-	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu		0.318	AP3S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3S1	HGNC	protein_coding	OTTHUMT00000250847.2	G			115238600	+1	no_errors	ENST00000316788	ensembl	human	known	70_37	missense	SNP	1.000	A
ARHGEF12	23365	genome.wustl.edu	37	11	120295078	120295078	+	Silent	SNP	T	T	G			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr11:120295078T>G	ENST00000397843.2	+	7	526	c.360T>G	c.(358-360)acT>acG	p.T120T	ARHGEF12_ENST00000532993.1_Silent_p.T17T|ARHGEF12_ENST00000356641.3_Silent_p.T101T	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	120	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TGAATGGAACTCTGGTGACTC	0.323			T	MLL	AML																																			Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	0													163.0	153.0	156.0					11																	120295078		1855	4101	5956	SO:0001819	synonymous_variant	23365			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.360T>G	11.37:g.120295078T>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O15086|Q6P526	Silent	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.T101	ENST00000397843.2	37	c.303	CCDS41727.1	11																																																																																			ARHGEF12	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.323	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ARHGEF12	HGNC	protein_coding	OTTHUMT00000388052.1	T	NM_015313		120295078	+1	no_errors	ENST00000356641	ensembl	human	known	70_37	silent	SNP	1.000	G
ASL	435	genome.wustl.edu	37	7	65546867	65546867	+	Silent	SNP	C	C	T			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr7:65546867C>T	ENST00000304874.9	+	3	192	c.90C>T	c.(88-90)taC>taT	p.Y30Y	ASL_ENST00000395331.3_Silent_p.Y30Y|ASL_ENST00000395332.3_Silent_p.Y30Y|ASL_ENST00000380839.4_Silent_p.Y30Y	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	30					arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	CCATTGCCTACGACCGGCACC	0.587																																																	0													71.0	57.0	62.0					7																	65546867		2203	4300	6503	SO:0001819	synonymous_variant	435				CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.90C>T	7.37:g.65546867C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	E7EMI0|E9PE48|Q6LDS5|Q96HS2	Silent	SNP	pfam_Lyase1_N,superfamily_L-Aspartase-like,prints_D_crystallin,prints_Fumarate_lyase,tigrfam_Argininosuccinate_lyase	p.Y30	ENST00000304874.9	37	c.90	CCDS5531.1	7																																																																																			ASL	-	pfam_Lyase1_N,superfamily_L-Aspartase-like,tigrfam_Argininosuccinate_lyase		0.587	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASL	HGNC	protein_coding	OTTHUMT00000251695.2	C	NM_000048		65546867	+1	no_errors	ENST00000304874	ensembl	human	known	70_37	silent	SNP	0.782	T
ATP6V0D1	9114	genome.wustl.edu	37	16	67487585	67487585	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr16:67487585C>T	ENST00000290949.3	-	2	314	c.164G>A	c.(163-165)gGt>gAt	p.G55D	ATP6V0D1_ENST00000602876.1_5'UTR|ATP6V0D1_ENST00000540149.1_Missense_Mutation_p.G55D	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	55					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP hydrolysis coupled proton transport (GO:0015991)|brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|cellular protein metabolic process (GO:0044267)|cilium assembly (GO:0042384)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|synaptic vesicle (GO:0008021)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)			large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		CAGGAAGTTACCATAATCAGT	0.557																																																	0													142.0	117.0	126.0					16																	67487585		2198	4300	6498	SO:0001583	missense	9114			X71490	CCDS10838.1	16q22	2010-04-21	2006-01-20	2002-05-10	ENSG00000159720	ENSG00000159720		"""ATPases / V-type"""	13724	protein-coding gene	gene with protein product		607028	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), member D"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 1"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D1"""	ATP6D		8250920	Standard	NM_004691		Approved	ATP6DV, VATX, VPATPD, P39, Vma6	uc002ete.1	P61421	OTTHUMG00000137515	ENST00000290949.3:c.164G>A	16.37:g.67487585C>T	ENSP00000290949:p.Gly55Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	P12953|Q02547	Missense_Mutation	SNP	pfam_ATPase_V0/A0-cplx_csu/dsu,superfamily_ATPase_V0/A0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu	p.G55D	ENST00000290949.3	37	c.164	CCDS10838.1	16	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692992	0.68271	.	.	ENSG00000159720	ENST00000290949;ENST00000540149	T;T	0.35048	1.33;1.33	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.67449	0.2894	M	0.88241	2.94	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.998	T	0.72805	-0.4182	10	0.56958	D	0.05	-24.9685	17.8611	0.88781	0.0:1.0:0.0:0.0	.	55;55	F5GYQ1;P61421	.;VA0D1_HUMAN	D	55	ENSP00000290949:G55D;ENSP00000441282:G55D	ENSP00000290949:G55D	G	-	2	0	ATP6V0D1	66045086	1.000000	0.71417	1.000000	0.80357	0.136000	0.21042	7.666000	0.83877	2.555000	0.86185	0.563000	0.77884	GGT	ATP6V0D1	-	pfam_ATPase_V0/A0-cplx_csu/dsu,superfamily_ATPase_V0/A0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu		0.557	ATP6V0D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0D1	HGNC	protein_coding	OTTHUMT00000268835.1	C	NM_004691		67487585	-1	no_errors	ENST00000290949	ensembl	human	known	70_37	missense	SNP	1.000	T
BICD2	23299	genome.wustl.edu	37	9	95477597	95477597	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr9:95477597G>C	ENST00000375512.3	-	7	2474	c.2407C>G	c.(2407-2409)Cat>Gat	p.H803D	BICD2_ENST00000356884.6_Missense_Mutation_p.H803D	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	803	Interacts with RAB6A. {ECO:0000250}.				cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						GTCTGCTCATGGTCCAGCTCG	0.662																																																	0													35.0	32.0	33.0					9																	95477597		2203	4298	6501	SO:0001583	missense	23299			AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.2407C>G	9.37:g.95477597G>C	ENSP00000364662:p.His803Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	pfam_Bicaudal-D_microtubule-assoc	p.H803D	ENST00000375512.3	37	c.2407	CCDS6700.1	9	.	.	.	.	.	.	.	.	.	.	G	20.2	3.956847	0.73902	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.44881	0.91;0.94	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.44540	0.1298	M	0.65975	2.015	0.80722	D	1	P;P	0.48294	0.908;0.666	B;B	0.41412	0.356;0.194	T	0.41288	-0.9517	10	0.32370	T	0.25	-29.8118	16.9106	0.86139	0.0:0.0:1.0:0.0	.	803;803	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	D	803	ENSP00000349351:H803D;ENSP00000364662:H803D	ENSP00000349351:H803D	H	-	1	0	BICD2	94517418	1.000000	0.71417	0.999000	0.59377	0.933000	0.57130	9.734000	0.98822	2.674000	0.91012	0.655000	0.94253	CAT	BICD2	-	NULL		0.662	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BICD2	HGNC	protein_coding	OTTHUMT00000055508.1	G	NM_015250		95477597	-1	no_errors	ENST00000356884	ensembl	human	known	70_37	missense	SNP	1.000	C
C1QC	714	genome.wustl.edu	37	1	22974214	22974214	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr1:22974214G>A	ENST00000374639.3	+	3	794	c.676G>A	c.(676-678)Gac>Aac	p.D226N	C1QC_ENST00000374637.1_Missense_Mutation_p.D226N|C1QC_ENST00000374640.4_Missense_Mutation_p.D226N	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	226	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGACTACTACGACATGGTGGG	0.632																																					Ovarian(26;671 750 8290 29071 43278)												0													104.0	101.0	102.0					1																	22974214		2203	4300	6503	SO:0001583	missense	714			AK057792	CCDS227.1	1p36.11	2014-09-17	2006-02-09	2006-02-09	ENSG00000159189	ENSG00000159189		"""Complement system"""	1245	protein-coding gene	gene with protein product		120575	"""complement component 1, q subcomponent, gamma polypeptide"""	C1QG		1706597	Standard	NM_001114101		Approved		uc001bga.4	P02747	OTTHUMG00000002891	ENST00000374639.3:c.676G>A	1.37:g.22974214G>A	ENSP00000363770:p.Asp226Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z502|Q96DL2|Q96H05	Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.D226N	ENST00000374639.3	37	c.676	CCDS227.1	1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.363082	0.41902	.	.	ENSG00000159189	ENST00000374640;ENST00000374639;ENST00000374637	T;T;T	0.74842	-0.88;-0.88;-0.88	4.79	4.79	0.61399	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.105855	0.64402	D	0.000004	T	0.52709	0.1751	N	0.02539	-0.55	0.22305	N	0.999213	B	0.09022	0.002	B	0.01281	0.0	T	0.52830	-0.8523	10	0.56958	D	0.05	.	16.3983	0.83631	0.0:0.0:1.0:0.0	.	226	P02747	C1QC_HUMAN	N	226	ENSP00000363771:D226N;ENSP00000363770:D226N;ENSP00000363768:D226N	ENSP00000363768:D226N	D	+	1	0	C1QC	22846801	1.000000	0.71417	0.988000	0.46212	0.296000	0.27459	4.010000	0.57117	2.198000	0.70561	0.561000	0.74099	GAC	C1QC	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q		0.632	C1QC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QC	HGNC	protein_coding	OTTHUMT00000008083.1	G	NM_172369		22974214	+1	no_errors	ENST00000374637	ensembl	human	known	70_37	missense	SNP	0.998	A
CACNA2D3	55799	genome.wustl.edu	37	3	55107570	55107570	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr3:55107570C>T	ENST00000474759.1	+	36	3134	c.3086C>T	c.(3085-3087)cCc>cTc	p.P1029L	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.P935L|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.P1029L|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.P1029L|CACNA2D3_ENST00000478261.1_Intron	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	1029						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	ACCATGGCACCCATTGAAATC	0.507																																																	0													88.0	85.0	86.0					3																	55107570		1992	4175	6167	SO:0001583	missense	55799			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.3086C>T	3.37:g.55107570C>T	ENSP00000419101:p.Pro1029Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.P1029L	ENST00000474759.1	37	c.3086	CCDS54598.1	3	.	.	.	.	.	.	.	.	.	.	C	29.5	5.008609	0.93346	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.62221	0.2410	M	0.70595	2.14	0.80722	D	1	P	0.51791	0.948	P	0.52627	0.704	T	0.65051	-0.6262	10	0.72032	D	0.01	.	18.2592	0.90028	0.0:1.0:0.0:0.0	.	1029	Q8IZS8	CA2D3_HUMAN	L	1029;1029;1029;935;935	ENSP00000389506:P1029L;ENSP00000419101:P1029L;ENSP00000288197:P1029L;ENSP00000417279:P935L	ENSP00000288197:P1029L	P	+	2	0	CACNA2D3	55082610	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.455000	0.80726	2.750000	0.94351	0.637000	0.83480	CCC	CACNA2D3	-	NULL		0.507	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA2D3	HGNC	protein_coding	OTTHUMT00000351402.1	C			55107570	+1	no_errors	ENST00000288197	ensembl	human	known	70_37	missense	SNP	1.000	T
C19orf68	374920	genome.wustl.edu	37	19	48685630	48685631	+	Intron	INS	-	-	A	rs540757523|rs11373236|rs56182393	byFrequency	TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr19:48685630_48685631insA	ENST00000328759.7	+	3	307				CARD8_ENST00000600800.1_5'UTR|ZNF114_ENST00000597695.1_Intron			Q86XI8	CS068_HUMAN	chromosome 19 open reading frame 68						hematopoietic progenitor cell differentiation (GO:0002244)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)											ATTCTTAGTTTAAAAAAAAAAA	0.51													|||unknown(HR)	1843	0.368011	0.2572	0.3386	5008	,	,		14404	0.5169		0.3976	False		,,,				2504	0.3548																0																																										SO:0001627	intron_variant	22900			BC043386	CCDS74411.1	19q13.32	2008-08-06			ENSG00000185453	ENSG00000185453			34495	protein-coding gene	gene with protein product						12477932	Standard	NM_199341		Approved	LOC374920	uc002pic.3	Q86XI8		ENST00000328759.7:c.276-81->A	19.37:g.48685641_48685641dupA		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	INS	-	NULL	ENST00000328759.7	37	NULL		19																																																																																			CARD8	-	-		0.510	C19orf68-001	KNOWN	non_canonical_other|basic|appris_principal	protein_coding	CARD8	HGNC	protein_coding	OTTHUMT00000465598.1	-	XM_001713770		48685631	-1	no_errors	ENST00000600800	ensembl	human	known	70_37	rna	INS	0.001:0.000	A
CEP128	145508	genome.wustl.edu	37	14	81259223	81259223	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr14:81259223C>T	ENST00000555265.1	-	14	1816	c.1441G>A	c.(1441-1443)Gac>Aac	p.D481N	CEP128_ENST00000281129.3_Missense_Mutation_p.D481N			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	481						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						AGTTTCAGGTCTTCCCTCCTC	0.502																																																	0													195.0	174.0	181.0					14																	81259223		2203	4300	6503	SO:0001583	missense	145508			AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.1441G>A	14.37:g.81259223C>T	ENSP00000451162:p.Asp481Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	NULL	p.D481N	ENST00000555265.1	37	c.1441	CCDS32130.1	14	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184414	0.57800	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619	T;T	0.34667	1.35;1.35	5.47	3.6	0.41247	.	0.267699	0.35040	N	0.003499	T	0.23133	0.0559	N	0.22421	0.69	0.80722	D	1	P	0.35272	0.493	B	0.32465	0.146	T	0.02603	-1.1135	10	0.25751	T	0.34	.	12.3911	0.55358	0.1343:0.7368:0.1289:0.0	.	481	Q6ZU80	CE128_HUMAN	N	481	ENSP00000281129:D481N;ENSP00000451162:D481N	ENSP00000281129:D481N	D	-	1	0	CEP128	80328976	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	3.366000	0.52343	0.642000	0.30620	0.650000	0.86243	GAC	CEP128	-	NULL		0.502	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP128	HGNC	protein_coding	OTTHUMT00000413415.1	C	NM_152446		81259223	-1	no_errors	ENST00000281129	ensembl	human	known	70_37	missense	SNP	1.000	T
CHRFAM7A	89832	genome.wustl.edu	37	15	30654961	30654961	+	Silent	SNP	G	G	A	rs201471858	byFrequency	TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr15:30654961G>A	ENST00000299847.2	-	10	1227	c.774C>T	c.(772-774)ccC>ccT	p.P258P	CHRFAM7A_ENST00000401522.3_Silent_p.P167P|CHRFAM7A_ENST00000397827.3_Silent_p.P167P	NM_139320.1	NP_647536.1	Q494W8	CRFM7_HUMAN	CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion	258						integral component of membrane (GO:0016021)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		TGTCCTCCCCGGGCCTCTTCA	0.667																																																	0													3.0	4.0	3.0					15																	30654961		1163	2339	3502	SO:0001819	synonymous_variant	89832			AF029838	CCDS32184.1, CCDS42008.1	15q13.2	2013-04-24	2006-02-01		ENSG00000166664	ENSG00000166664			15781	protein-coding gene	gene with protein product		609756				11829490	Standard	NM_139320		Approved	D-10, CHRNA7-DR1	uc001zdt.1	Q494W8	OTTHUMG00000175645	ENST00000299847.2:c.774C>T	15.37:g.30654961G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8KAB9	Silent	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	p.P258	ENST00000299847.2	37	c.774	CCDS32184.1	15																																																																																			CHRFAM7A	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.667	CHRFAM7A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRFAM7A	HGNC	protein_coding	OTTHUMT00000430700.1	G	NM_148911		30654961	-1	no_errors	ENST00000299847	ensembl	human	known	70_37	silent	SNP	0.202	A
DHRS3	9249	genome.wustl.edu	37	1	12632817	12632817	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr1:12632817G>A	ENST00000376223.2	-	5	1146	c.763C>T	c.(763-765)Cag>Tag	p.Q255*	RNU6ATAC18P_ENST00000408413.1_RNA	NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	255					bone morphogenesis (GO:0060349)|cardiac septum morphogenesis (GO:0060411)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|phototransduction, visible light (GO:0007603)|regulation of ossification (GO:0030278)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|photoreceptor outer segment membrane (GO:0042622)	electron carrier activity (GO:0009055)|NADP-retinol dehydrogenase activity (GO:0052650)|nucleotide binding (GO:0000166)|retinol dehydrogenase activity (GO:0004745)			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	TGGTTGAGCTGCACAGCTTCC	0.572																																																	0													68.0	57.0	61.0					1																	12632817		2203	4300	6503	SO:0001587	stop_gained	9249			AF061741	CCDS146.1	1p36.1	2011-09-20			ENSG00000162496	ENSG00000162496	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	17693	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 1"""	612830				9705317, 12226107, 19027726	Standard	XM_005263533		Approved	retSDR1, Rsdr1, SDR1, RDH17, SDR16C1	uc001auc.3	O75911	OTTHUMG00000001885	ENST00000376223.2:c.763C>T	1.37:g.12632817G>A	ENSP00000365397:p.Gln255*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7F3|Q5VUY3|Q6UY38|Q9BUC8	Nonsense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Polysac_CapD-like,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.Q255*	ENST00000376223.2	37	c.763	CCDS146.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.484878	0.98312	.	.	ENSG00000162496	ENST00000376223	.	.	.	4.74	4.74	0.60224	.	0.114181	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.1364	0.89620	0.0:0.0:1.0:0.0	.	.	.	.	X	255	.	ENSP00000365397:Q255X	Q	-	1	0	DHRS3	12555404	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	5.725000	0.68507	2.356000	0.79943	0.563000	0.77884	CAG	DHRS3	-	NULL		0.572	DHRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRS3	HGNC	protein_coding	OTTHUMT00000005318.1	G	NM_004753		12632817	-1	no_errors	ENST00000376223	ensembl	human	known	70_37	nonsense	SNP	1.000	A
DPPA3P2	400206	genome.wustl.edu	37	14	36840868	36840868	+	RNA	SNP	G	G	A			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr14:36840868G>A	ENST00000557188.1	+	0	499									developmental pluripotency associated 3 pseudogene 2																		CAGCAGGAGAGGAGTAAGAAC	0.483																																																	0																																												400206					14q13.3	2012-07-04			ENSG00000188831	ENSG00000188831			20417	pseudogene	pseudogene							Standard	NG_023379		Approved	STELLAR			OTTHUMG00000170728		14.37:g.36840868G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000557188.1	37	NULL		14																																																																																			DPPA3P2	-	-		0.483	DPPA3P2-002	KNOWN	basic	processed_transcript	DPPA3P2	HGNC	pseudogene	OTTHUMT00000410122.1	G			36840868	+1	no_errors	ENST00000557188	ensembl	human	known	70_37	rna	SNP	0.117	A
DPY19L4	286148	genome.wustl.edu	37	8	95789995	95789995	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr8:95789995C>A	ENST00000414645.2	+	14	1655	c.1556C>A	c.(1555-1557)aCt>aAt	p.T519N		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	519						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					CGATTAAGAACTGTACACCCA	0.333																																																	0													187.0	163.0	171.0					8																	95789995		2203	4300	6503	SO:0001583	missense	286148				CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162			27829	protein-coding gene	gene with protein product		613895					Standard	NM_181787		Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	ENST00000414645.2:c.1556C>A	8.37:g.95789995C>A	ENSP00000389630:p.Thr519Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZW32|Q6ZW42|Q7Z329	Missense_Mutation	SNP	pfam_Dpy-19	p.T519N	ENST00000414645.2	37	c.1556	CCDS34924.1	8	.	.	.	.	.	.	.	.	.	.	C	11.72	1.722233	0.30503	.	.	ENSG00000156162	ENST00000414645	T	0.63913	-0.07	5.35	4.45	0.53987	.	0.238137	0.42548	D	0.000695	T	0.47764	0.1463	N	0.22421	0.69	0.30879	N	0.73166	B	0.33318	0.408	B	0.37144	0.242	T	0.51787	-0.8661	10	0.26408	T	0.33	-14.358	10.565	0.45167	0.0:0.7932:0.1346:0.0721	.	519	Q7Z388	D19L4_HUMAN	N	519	ENSP00000389630:T519N	ENSP00000389630:T519N	T	+	2	0	DPY19L4	95859171	1.000000	0.71417	0.968000	0.41197	0.986000	0.74619	5.475000	0.66787	1.347000	0.45714	0.467000	0.42956	ACT	DPY19L4	-	pfam_Dpy-19		0.333	DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L4	HGNC	protein_coding	OTTHUMT00000379339.1	C	NM_181787		95789995	+1	no_errors	ENST00000414645	ensembl	human	known	70_37	missense	SNP	0.997	A
BCRP7	100133163	genome.wustl.edu	37	22	18844558	18844558	+	3'UTR	SNP	C	C	T	rs200409248		TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr22:18844558C>T	ENST00000412938.1	+	0	2808																											GGACAGCAGACTTTAGGACCC	0.577																																																	0																																										SO:0001624	3_prime_UTR_variant	0																														ENST00000412938.1:c.*2805C>T	22.37:g.18844558C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000412938.1	37	NULL		22																																																																																			AC008103.5	-	-		0.577	AC008132.13-002	KNOWN	basic	processed_transcript	ENSG00000161103	Clone_based_vega_gene	protein_coding	OTTHUMT00000471615.1	C			18844558	+1	no_errors	ENST00000412938	ensembl	human	known	70_37	rna	SNP	0.097	T
RP11-382F24.2	0	genome.wustl.edu	37	X	55307817	55307817	+	RNA	SNP	G	G	A			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chrX:55307817G>A	ENST00000440645.2	+	0	14																											TGGGAAATATGAGTGAGCATG	0.353																																																	0																																												0																															X.37:g.55307817G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000440645.2	37	NULL		X																																																																																			RP11-382F24.2	-	-		0.353	RP11-382F24.2-001	KNOWN	basic	processed_transcript	ENSG00000232765	Clone_based_vega_gene	processed_transcript	OTTHUMT00000056864.2	G			55307817	+1	no_errors	ENST00000440645	ensembl	human	known	70_37	rna	SNP	0.025	A
GAB1	2549	genome.wustl.edu	37	4	144346441	144346441	+	Intron	SNP	G	G	C			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr4:144346441G>C	ENST00000262994.4	+	3	669				GAB1_ENST00000262995.4_Intron|GAB1_ENST00000505913.1_Intron|RP11-58H15.1_ENST00000494591.1_RNA	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1						activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					TATCCTCCAGGAATACTGGCC	0.498																																																	0																																										SO:0001627	intron_variant	0			U43885	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			ENSG00000109458	ENSG00000109458		"""Pleckstrin homology (PH) domain containing"""	4066	protein-coding gene	gene with protein product		604439				8596638	Standard	NM_207123		Approved		uc003ijd.3	Q13480	OTTHUMG00000161432	ENST00000262994.4:c.368-8203G>C	4.37:g.144346441G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K152|Q4W5G2|Q6P1W2	RNA	SNP	-	NULL	ENST00000262994.4	37	NULL	CCDS3759.1	4																																																																																			RP11-58H15.1	-	-		0.498	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000243175	Clone_based_vega_gene	protein_coding	OTTHUMT00000364998.1	G	NM_002039		144346441	+1	no_errors	ENST00000494591	ensembl	human	known	70_37	rna	SNP	1.000	C
EPHA10	284656	genome.wustl.edu	37	1	38227721	38227721	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr1:38227721C>T	ENST00000373048.4	-	3	205	c.206G>A	c.(205-207)cGt>cAt	p.R69H	EPHA10_ENST00000319637.6_Missense_Mutation_p.R69H|EPHA10_ENST00000427468.2_Missense_Mutation_p.R69H	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	69	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCGGATGGGACGGTCGTGTTC	0.622																																																	0													76.0	62.0	67.0					1																	38227721		2203	4300	6503	SO:0001583	missense	284656			AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.206G>A	1.37:g.38227721C>T	ENSP00000362139:p.Arg69His	Somatic		WXS	Illumina HiSeq	Phase_IV	A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	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,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_SAM/pointed,superfamily_Fibronectin_type3,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,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R69H	ENST00000373048.4	37	c.206	CCDS41305.1	1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364422	0.61513	.	.	ENSG00000183317	ENST00000427468;ENST00000373048;ENST00000319637	T;T;T	0.03717	3.83;3.83;3.83	4.47	4.47	0.54385	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.34853	N	0.003624	T	0.08846	0.0219	L	0.31845	0.965	0.80722	D	1	D;D	0.71674	0.998;0.997	P;P	0.62491	0.903;0.686	T	0.07271	-1.0781	10	0.62326	D	0.03	.	12.2331	0.54499	0.0:0.913:0.0:0.087	.	69;69	Q5JZY3;Q5JZY3-2	EPHAA_HUMAN;.	H	69	ENSP00000397746:R69H;ENSP00000362139:R69H;ENSP00000316395:R69H	ENSP00000316395:R69H	R	-	2	0	EPHA10	38000308	0.121000	0.22262	0.999000	0.59377	0.986000	0.74619	0.341000	0.19909	2.448000	0.82819	0.549000	0.68633	CGT	EPHA10	-	pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom,pirsf_Tyr_kinase_ephrin_rcpt		0.622	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	EPHA10	HGNC	protein_coding	OTTHUMT00000012497.2	C	NM_173641		38227721	-1	no_errors	ENST00000427468	ensembl	human	known	70_37	missense	SNP	0.984	T
EPHA7	2045	genome.wustl.edu	37	6	94066638	94066638	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr6:94066638C>A	ENST00000369303.4	-	5	1305	c.1121G>T	c.(1120-1122)tGg>tTg	p.W374L		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	374	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.E375fs*14(2)|p.R371fs(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GCCCTGCTCCCAACTGCACCG	0.488																																																	3	Complex - frameshift(2)|Complex(1)	central_nervous_system(3)											162.0	134.0	143.0					6																	94066638		2203	4300	6503	SO:0001583	missense	2045			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.1121G>T	6.37:g.94066638C>A	ENSP00000358309:p.Trp374Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	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,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.W374L	ENST00000369303.4	37	c.1121	CCDS5031.1	6	.	.	.	.	.	.	.	.	.	.	C	8.360	0.832905	0.16820	.	.	ENSG00000135333	ENST00000369303	T	0.55930	0.49	5.71	5.71	0.89125	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.20901	0.0503	N	0.12569	0.235	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.002	T	0.16571	-1.0398	10	0.11485	T	0.65	.	19.8478	0.96722	0.0:1.0:0.0:0.0	.	374;374;374	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	L	374	ENSP00000358309:W374L	ENSP00000358309:W374L	W	-	2	0	EPHA7	94123359	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.968000	0.70413	2.685000	0.91497	0.650000	0.86243	TGG	EPHA7	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3		0.488	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA7	HGNC	protein_coding	OTTHUMT00000041545.1	C			94066638	-1	no_errors	ENST00000369303	ensembl	human	known	70_37	missense	SNP	1.000	A
ERBB3	2065	genome.wustl.edu	37	12	56482537	56482537	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr12:56482537G>C	ENST00000267101.3	+	9	1434	c.994G>C	c.(994-996)Gag>Cag	p.E332Q	ERBB3_ENST00000415288.2_Missense_Mutation_p.E273Q|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	332					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)	p.E332K(2)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TGCAGCCTGTGAGGGAACAGG	0.522																																																	2	Substitution - Missense(2)	urinary_tract(2)											97.0	96.0	96.0					12																	56482537		2203	4300	6503	SO:0001583	missense	2065			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.994G>C	12.37:g.56482537G>C	ENSP00000267101:p.Glu332Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E332Q	ENST00000267101.3	37	c.994	CCDS31833.1	12	.	.	.	.	.	.	.	.	.	.	G	14.14	2.447583	0.43429	.	.	ENSG00000065361	ENST00000267101;ENST00000415288	D;D	0.84442	-1.85;-1.85	5.52	5.52	0.82312	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.64402	D	0.000005	D	0.90249	0.6951	L	0.50333	1.59	0.80722	D	1	D;B	0.89917	1.0;0.059	D;B	0.77004	0.989;0.053	D	0.88700	0.3215	10	0.40728	T	0.16	.	18.37	0.90403	0.0:0.0:1.0:0.0	.	12;332	O75810;P21860	.;ERBB3_HUMAN	Q	332;273	ENSP00000267101:E332Q;ENSP00000408340:E273Q	ENSP00000267101:E332Q	E	+	1	0	ERBB3	54768804	1.000000	0.71417	1.000000	0.80357	0.220000	0.24768	4.794000	0.62482	2.873000	0.98535	0.563000	0.77884	GAG	ERBB3	-	pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.522	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	HGNC	protein_coding	OTTHUMT00000407619.3	G			56482537	+1	no_errors	ENST00000267101	ensembl	human	known	70_37	missense	SNP	1.000	C
FLRT2	23768	genome.wustl.edu	37	14	86087985	86087985	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr14:86087985G>A	ENST00000330753.4	+	2	894	c.127G>A	c.(127-129)Gac>Aac	p.D43N	FLRT2_ENST00000554746.1_Missense_Mutation_p.D43N	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	43	LRRNT.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.D43N(2)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GTGCCGCTGCGACAGGAACTT	0.522																																																	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)											124.0	116.0	118.0					14																	86087985		2203	4300	6503	SO:0001583	missense	23768			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.127G>A	14.37:g.86087985G>A	ENSP00000332879:p.Asp43Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV84|B7ZLP3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3	p.D43N	ENST00000330753.4	37	c.127	CCDS9877.1	14	.	.	.	.	.	.	.	.	.	.	G	33	5.224776	0.95173	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	D;D	0.96104	-3.91;-3.91	5.73	5.73	0.89815	Leucine-rich repeat-containing N-terminal (2);	0.047964	0.85682	D	0.000000	D	0.90270	0.6957	N	0.17631	0.505	0.80722	D	1	P	0.46457	0.878	B	0.34038	0.174	D	0.90594	0.4539	10	0.42905	T	0.14	-31.8616	19.9036	0.96999	0.0:0.0:1.0:0.0	.	43	O43155	FLRT2_HUMAN	N	43	ENSP00000332879:D43N;ENSP00000451050:D43N	ENSP00000332879:D43N	D	+	1	0	FLRT2	85157738	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	8.061000	0.89467	2.706000	0.92434	0.655000	0.94253	GAC	FLRT2	-	pfam_LRR-contain_N,smart_LRR-contain_N		0.522	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT2	HGNC	protein_coding	OTTHUMT00000413193.1	G			86087985	+1	no_errors	ENST00000330753	ensembl	human	known	70_37	missense	SNP	1.000	A
FOLH1	2346	genome.wustl.edu	37	11	49207317	49207317	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr11:49207317C>T	ENST00000256999.2	-	6	990	c.730G>A	c.(730-732)Gat>Aat	p.D244N	FOLH1_ENST00000533034.1_Missense_Mutation_p.D229N|FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000340334.7_Missense_Mutation_p.D229N|FOLH1_ENST00000356696.3_Missense_Mutation_p.D244N	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	244					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	TTCCAACCATCTGGATAGGAC	0.507																																																	0													50.0	63.0	59.0					11																	49207317		2201	4297	6498	SO:0001583	missense	2346			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.730G>A	11.37:g.49207317C>T	ENSP00000256999:p.Asp244Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom	p.D244N	ENST00000256999.2	37	c.730	CCDS7946.1	11	.	.	.	.	.	.	.	.	.	.	C	6.044	0.376393	0.11466	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000533034;ENST00000389724	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	3.01	1.08	0.20341	Protease-associated domain, PA (1);	0.516425	0.17169	N	0.184366	T	0.22126	0.0533	N	0.16903	0.455	0.42839	D	0.994046	B;B;B;B	0.16166	0.016;0.002;0.016;0.0	B;B;B;B	0.17433	0.017;0.003;0.018;0.002	T	0.05500	-1.0881	10	0.22109	T	0.4	.	6.7483	0.23474	0.0:0.7378:0.0:0.2622	.	229;229;244;244	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	N	244;244;229;229;244	ENSP00000256999:D244N;ENSP00000349129:D244N;ENSP00000344131:D229N;ENSP00000431463:D229N	ENSP00000256999:D244N	D	-	1	0	FOLH1	49163893	0.119000	0.22226	0.997000	0.53966	0.300000	0.27592	-0.298000	0.08265	0.628000	0.30357	-0.498000	0.04607	GAT	FOLH1	-	pfam_Protease-assoc_domain		0.507	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOLH1	HGNC	protein_coding	OTTHUMT00000390896.1	C	NM_004476		49207317	-1	no_errors	ENST00000256999	ensembl	human	known	70_37	missense	SNP	0.995	T
FOLH1B	219595	genome.wustl.edu	37	11	89392796	89392796	+	RNA	SNP	G	G	A			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr11:89392796G>A	ENST00000532352.1	+	0	619							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GTCCTATCCAGACGGTTGGAA	0.507																																																	0																																												219595			AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89392796G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000532352.1	37	NULL		11																																																																																			FOLH1B	-	-		0.507	FOLH1B-004	KNOWN	basic	processed_transcript	FOLH1B	HGNC	pseudogene	OTTHUMT00000395421.1	G	NM_153696		89392796	+1	no_errors	ENST00000525540	ensembl	human	known	70_37	rna	SNP	0.884	A
GPR45	11250	genome.wustl.edu	37	2	105858468	105858468	+	Silent	SNP	C	C	A			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr2:105858468C>A	ENST00000258456.1	+	1	269	c.153C>A	c.(151-153)ggC>ggA	p.G51G		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						GGTTCCTGGGCAACACTGTGG	0.627																																																	0													142.0	125.0	130.0					2																	105858468		2203	4300	6503	SO:0001819	synonymous_variant	11250			AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.153C>A	2.37:g.105858468C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NWS4|Q6NXU6	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.G51	ENST00000258456.1	37	c.153	CCDS2066.1	2																																																																																			GPR45	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.627	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR45	HGNC	protein_coding	OTTHUMT00000253348.1	C	NM_007227		105858468	+1	no_errors	ENST00000258456	ensembl	human	known	70_37	silent	SNP	1.000	A
HDC	3067	genome.wustl.edu	37	15	50535348	50535348	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr15:50535348G>A	ENST00000267845.3	-	11	1636	c.1234C>T	c.(1234-1236)Cgt>Tgt	p.R412C	RN7SL494P_ENST00000461517.2_RNA|HDC_ENST00000543581.1_Missense_Mutation_p.R379C	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		ACCTTTAGACGAAAAACCACC	0.478																																					GBM(95;1627 1936 6910 9570)												0													78.0	75.0	76.0					15																	50535348		2196	4295	6491	SO:0001583	missense	3067				CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.1234C>T	15.37:g.50535348G>A	ENSP00000267845:p.Arg412Cys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Aromatic_deC	p.R412C	ENST00000267845.3	37	c.1234	CCDS10134.1	15	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366737	0.82463	.	.	ENSG00000140287	ENST00000267845;ENST00000543581	T;T	0.46819	0.86;0.86	5.82	5.82	0.92795	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.306737	0.41001	D	0.000965	T	0.71660	0.3366	M	0.84082	2.675	0.80722	D	1	P;D	0.65815	0.895;0.995	P;D	0.63192	0.562;0.912	T	0.74825	-0.3533	10	0.87932	D	0	-11.7372	20.0992	0.97865	0.0:0.0:1.0:0.0	.	379;412	B7ZM01;P19113	.;DCHS_HUMAN	C	412;379	ENSP00000267845:R412C;ENSP00000440252:R379C	ENSP00000267845:R412C	R	-	1	0	HDC	48322640	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.729000	0.62008	2.762000	0.94881	0.467000	0.42956	CGT	HDC	-	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Aromatic_deC		0.478	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDC	HGNC	protein_coding	OTTHUMT00000254540.1	G			50535348	-1	no_errors	ENST00000267845	ensembl	human	known	70_37	missense	SNP	1.000	A
IL1RAPL2	26280	genome.wustl.edu	37	X	104961396	104961396	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chrX:104961396G>T	ENST00000372582.1	+	7	1565	c.809G>T	c.(808-810)gGa>gTa	p.G270V	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.G270V	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	270	Ig-like C2-type 3.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GCATTCTTCGGATTCAGTGGA	0.433																																																	0													161.0	152.0	155.0					X																	104961396		2203	4300	6503	SO:0001583	missense	26280			AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.809G>T	X.37:g.104961396G>T	ENSP00000361663:p.Gly270Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M3U3|Q9NZN0	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_Interleukin-1_rcpt_II	p.G270V	ENST00000372582.1	37	c.809	CCDS14517.1	X	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321137	0.81580	.	.	ENSG00000189108	ENST00000372582;ENST00000344799	T;T	0.03496	3.91;3.91	5.32	5.32	0.75619	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000005	T	0.19485	0.0468	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00314	-1.1824	10	0.56958	D	0.05	.	16.8989	0.86108	0.0:0.0:1.0:0.0	.	270	Q9NP60	IRPL2_HUMAN	V	270	ENSP00000361663:G270V;ENSP00000344976:G270V	ENSP00000344976:G270V	G	+	2	0	IL1RAPL2	104848052	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.367000	0.97148	2.197000	0.70478	0.506000	0.49869	GGA	IL1RAPL2	-	smart_Ig_sub,pfscan_Ig-like		0.433	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RAPL2	HGNC	protein_coding	OTTHUMT00000057785.1	G	NM_017416		104961396	+1	no_errors	ENST00000344799	ensembl	human	known	70_37	missense	SNP	1.000	T
JAKMIP3	282973	genome.wustl.edu	37	10	133950592	133950592	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr10:133950592G>C	ENST00000298622.4	+	6	1324	c.1186G>C	c.(1186-1188)Gaa>Caa	p.E396Q		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	396						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GGATGAGAGAGAAGTCGATTT	0.507																																																	0													90.0	95.0	93.0					10																	133950592		1951	4146	6097	SO:0001583	missense	282973			AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.1186G>C	10.37:g.133950592G>C	ENSP00000298622:p.Glu396Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP	NULL	p.E396Q	ENST00000298622.4	37	c.1186	CCDS44494.1	10	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972400	0.74246	.	.	ENSG00000188385	ENST00000298622	T	0.35048	1.33	4.72	4.72	0.59763	.	0.057434	0.64402	D	0.000002	T	0.60881	0.2303	M	0.73598	2.24	0.58432	D	0.999994	D	0.89917	1.0	D	0.85130	0.997	T	0.61987	-0.6949	10	0.38643	T	0.18	-11.3177	17.6592	0.88187	0.0:0.0:1.0:0.0	.	396	Q5VZ66	JKIP3_HUMAN	Q	396	ENSP00000298622:E396Q	ENSP00000298622:E396Q	E	+	1	0	JAKMIP3	133800582	1.000000	0.71417	0.069000	0.20011	0.687000	0.40016	9.206000	0.95056	2.140000	0.66376	0.586000	0.80456	GAA	JAKMIP3	-	NULL		0.507	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	JAKMIP3	HGNC	protein_coding	OTTHUMT00000051049.3	G	NM_194303		133950592	+1	no_errors	ENST00000298622	ensembl	human	known	70_37	missense	SNP	1.000	C
KATNBL1	79768	genome.wustl.edu	37	15	34438961	34438961	+	Splice_Site	SNP	C	C	A			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr15:34438961C>A	ENST00000256544.3	-	8	931		c.e8+1			NM_024713.2	NP_078989.1	Q9H079	KTBL1_HUMAN	katanin p80 subunit B-like 1							nucleolus (GO:0005730)											GGTATACTCACCCATCATTTA	0.328																																																	0													81.0	82.0	82.0					15																	34438961		2201	4296	6497	SO:0001630	splice_region_variant	79768			AL136908	CCDS10034.1	15q13.2	2012-09-27	2012-09-27	2012-09-27	ENSG00000134152	ENSG00000134152			26199	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 29"""	C15orf29		11230166	Standard	NM_024713		Approved	FLJ22557	uc001zhp.3	Q9H079	OTTHUMG00000129368	ENST00000256544.3:c.788+1G>T	15.37:g.34438961C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8KAF6|Q2TAC0|Q9H670	Splice_Site	SNP	-	e7+1	ENST00000256544.3	37	c.788+1	CCDS10034.1	15	.	.	.	.	.	.	.	.	.	.	C	16.59	3.166897	0.57476	.	.	ENSG00000134152	ENST00000256544	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0124	0.86410	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C15orf29	32226253	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	5.801000	0.69115	2.669000	0.90835	0.411000	0.27672	.	KATNBL1	-	-		0.328	KATNBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KATNBL1	HGNC	protein_coding	OTTHUMT00000251520.1	C	NM_024713	Intron	34438961	-1	no_errors	ENST00000256544	ensembl	human	known	70_37	splice_site	SNP	1.000	A
KCNH5	27133	genome.wustl.edu	37	14	63246573	63246573	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr14:63246573C>T	ENST00000322893.7	-	10	2160	c.1892G>A	c.(1891-1893)cGg>cAg	p.R631Q	KCNH5_ENST00000420622.2_Intron|KCNH5_ENST00000394968.1_Missense_Mutation_p.R573Q	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	631					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CGTCAGTGCCCGGACGTTCGC	0.458																																																	0													113.0	101.0	105.0					14																	63246573		2203	4300	6503	SO:0001583	missense	27133			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1892G>A	14.37:g.63246573C>T	ENSP00000321427:p.Arg631Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JP98	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS	p.R631Q	ENST00000322893.7	37	c.1892	CCDS9756.1	14	.	.	.	.	.	.	.	.	.	.	C	21.4	4.149956	0.78001	.	.	ENSG00000140015	ENST00000322893;ENST00000394968	D;D	0.96992	-4.2;-4.2	5.72	5.72	0.89469	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.98359	0.9455	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.976;0.997	D	0.98974	1.0802	10	0.87932	D	0	.	19.8759	0.96870	0.0:1.0:0.0:0.0	.	573;631	Q8NCM2-3;Q8NCM2	.;KCNH5_HUMAN	Q	631;573	ENSP00000321427:R631Q;ENSP00000378419:R573Q	ENSP00000321427:R631Q	R	-	2	0	KCNH5	62316326	1.000000	0.71417	0.985000	0.45067	0.023000	0.10783	7.814000	0.86154	2.704000	0.92352	0.585000	0.79938	CGG	KCNH5	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,pfscan_cNMP-bd_dom		0.458	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH5	HGNC	protein_coding	OTTHUMT00000411747.1	C	NM_139318		63246573	-1	no_errors	ENST00000322893	ensembl	human	known	70_37	missense	SNP	1.000	T
KCNK5	8645	genome.wustl.edu	37	6	39158873	39158873	+	Silent	SNP	G	G	A	rs144931567		TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr6:39158873G>A	ENST00000359534.3	-	5	1631	c.1293C>T	c.(1291-1293)gaC>gaT	p.D431D		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	431					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.D431D(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						AGGTCTCCTCGTCTGAGAGGC	0.632																																																	1	Substitution - coding silent(1)	large_intestine(1)						G		1,4405	2.1+/-5.4	0,1,2202	56.0	54.0	55.0		1293	-9.9	0.0	6	dbSNP_134	55	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	KCNK5	NM_003740.3		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		431/500	39158873	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	8645			AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.1293C>T	6.37:g.39158873G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAQ6|B5TJL2|Q5VV76	Silent	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK	p.D431	ENST00000359534.3	37	c.1293	CCDS4841.1	6																																																																																			KCNK5	-	NULL		0.632	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK5	HGNC	protein_coding	OTTHUMT00000040449.1	G	NM_003740		39158873	-1	no_errors	ENST00000359534	ensembl	human	known	70_37	silent	SNP	0.044	A
L3MBTL3	84456	genome.wustl.edu	37	6	130392142	130392142	+	Silent	SNP	C	C	A			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr6:130392142C>A	ENST00000529410.1	+	15	1593	c.1114C>A	c.(1114-1116)Cga>Aga	p.R372R	L3MBTL3_ENST00000368139.2_Silent_p.R347R|L3MBTL3_ENST00000533560.1_Silent_p.R347R|L3MBTL3_ENST00000368136.2_Silent_p.R372R|L3MBTL3_ENST00000361794.2_Silent_p.R372R|L3MBTL3_ENST00000526019.1_Silent_p.R347R			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	372					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		ATCGGGCTTTCGAGTTGGTAT	0.438																																																	0													227.0	218.0	221.0					6																	130392142		2203	4300	6503	SO:0001819	synonymous_variant	84456			AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.1114C>A	6.37:g.130392142C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4VXE1|Q5VUM9|Q6P9B5	Silent	SNP	pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.R372	ENST00000529410.1	37	c.1114	CCDS34537.1	6																																																																																			L3MBTL3	-	smart_Mbt,pfscan_Mbt		0.438	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	L3MBTL3	HGNC	protein_coding	OTTHUMT00000042195.2	C	XM_027074		130392142	+1	no_errors	ENST00000361794	ensembl	human	known	70_37	silent	SNP	1.000	A
LAMA5	3911	genome.wustl.edu	37	20	60889699	60889699	+	Missense_Mutation	SNP	G	G	C	rs373711091		TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr20:60889699G>C	ENST00000252999.3	-	61	8345	c.8279C>G	c.(8278-8280)aCt>aGt	p.T2760S		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2760	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CTTGAGGGCAGTGTAGGCAGC	0.642																																																	0													74.0	80.0	78.0					20																	60889699		2201	4300	6501	SO:0001583	missense	3911			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.8279C>G	20.37:g.60889699G>C	ENSP00000252999:p.Thr2760Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.T2760S	ENST00000252999.3	37	c.8279	CCDS33502.1	20	.	.	.	.	.	.	.	.	.	.	g	21.3	4.126875	0.77549	.	.	ENSG00000130702	ENST00000252999	T	0.53857	0.6	3.65	3.65	0.41850	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin II (1);	0.056776	0.64402	U	0.000002	T	0.63129	0.2485	L	0.56124	1.755	0.80722	D	1	P	0.47484	0.896	P	0.57846	0.828	T	0.64740	-0.6336	10	0.44086	T	0.13	.	14.9145	0.70785	0.0:0.0:1.0:0.0	.	2760	O15230	LAMA5_HUMAN	S	2760	ENSP00000252999:T2760S	ENSP00000252999:T2760S	T	-	2	0	LAMA5	60323094	1.000000	0.71417	0.990000	0.47175	0.979000	0.70002	7.362000	0.79507	1.581000	0.49865	0.457000	0.33378	ACT	LAMA5	-	pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.642	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2	G	NM_005560		60889699	-1	no_errors	ENST00000252999	ensembl	human	known	70_37	missense	SNP	1.000	C
LBH	81606	genome.wustl.edu	37	2	30480657	30480657	+	3'UTR	DEL	T	T	-			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr2:30480657delT	ENST00000395323.3	+	0	696				LBH_ENST00000467242.1_3'UTR|LBH_ENST00000404397.1_Intron	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN	limb bud and heart development						multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(172;0.155)					ttttcttgccttttttttttt	0.463																																																	0																																										SO:0001624	3_prime_UTR_variant	81606			AF110224	CCDS33173.1	2p23.1	2012-12-07	2012-12-07		ENSG00000213626	ENSG00000213626			29532	protein-coding gene	gene with protein product		611763	"""limb bud and heart development homolog (mouse)"""			11230166, 11336496	Standard	NM_030915		Approved		uc002rne.2	Q53QV2	OTTHUMG00000152051	ENST00000395323.3:c.*170T>-	2.37:g.30480657delT		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBC2|Q9H0Q1	RNA	DEL	-	NULL	ENST00000395323.3	37	NULL	CCDS33173.1	2																																																																																			LBH	-	-		0.463	LBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LBH	HGNC	protein_coding	OTTHUMT00000325091.1	T	NM_030915		30480657	+1	no_errors	ENST00000467242	ensembl	human	known	70_37	rna	DEL	0.930	-
LRSAM1	90678	genome.wustl.edu	37	9	130257661	130257661	+	Silent	SNP	G	G	T			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr9:130257661G>T	ENST00000323301.4	+	21	2266	c.1662G>T	c.(1660-1662)cgG>cgT	p.R554R	LRSAM1_ENST00000373324.4_Silent_p.R527R|LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000300417.6_Silent_p.R554R|LRSAM1_ENST00000373322.1_Silent_p.R554R	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	554					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						AGTATCAACGGCTTTTGAACC	0.532																																																	0													76.0	72.0	73.0					9																	130257661		2203	4300	6503	SO:0001819	synonymous_variant	90678			AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"""Sterile alpha motif (SAM) domain containing"""	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.1662G>T	9.37:g.130257661G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Silent	SNP	pfam_Leu-rich_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_PTS_PEP_utilis_N,smart_Leu-rich_rpt_typical-subtyp,smart_SAM,pfscan_SAM,pfscan_Znf_RING	p.R554	ENST00000323301.4	37	c.1662	CCDS6873.1	9																																																																																			LRSAM1	-	NULL		0.532	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRSAM1	HGNC	protein_coding	OTTHUMT00000054164.1	G	NM_138361		130257661	+1	no_errors	ENST00000300417	ensembl	human	known	70_37	silent	SNP	0.990	T
LYPLAL1	127018	genome.wustl.edu	37	1	219347236	219347236	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr1:219347236G>A	ENST00000366928.5	+	1	51	c.4G>A	c.(4-6)Gcg>Acg	p.A2T	LYPLAL1_ENST00000366927.3_Missense_Mutation_p.A2T|RP11-135J2.4_ENST00000441331.1_RNA	NM_138794.3	NP_620149	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	2					negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|protein depalmitoylation (GO:0002084)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	lysophospholipase activity (GO:0004622)			large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		ATCAGCGATGGCGGCTGCGTC	0.672																																																	0													45.0	42.0	43.0					1																	219347236		2200	4295	6495	SO:0001583	missense	127018			BC016711	CCDS1522.1, CCDS73032.1	1q41	2008-02-05			ENSG00000143353	ENSG00000143353			20440	protein-coding gene	gene with protein product							Standard	XM_005273046		Approved	Q96AV0	uc001hlq.4	Q5VWZ2	OTTHUMG00000037141	ENST00000366928.5:c.4G>A	1.37:g.219347236G>A	ENSP00000355895:p.Ala2Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K677|Q5VWZ3|Q7Z4A3|Q96AV0	Missense_Mutation	SNP	pfam_PLipase/COase/thioEstase,pfam_Dienelactn_hydro,pfam_Esterase_put	p.A2T	ENST00000366928.5	37	c.4	CCDS1522.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.612468	0.96637	.	.	ENSG00000143353	ENST00000366928;ENST00000366927	T;T	0.24908	1.89;1.83	4.44	3.52	0.40303	.	0.389129	0.24010	N	0.042390	T	0.19725	0.0474	L	0.36672	1.1	0.29074	N	0.883106	P;P	0.41313	0.745;0.629	B;B	0.39904	0.313;0.166	T	0.07597	-1.0764	10	0.51188	T	0.08	.	8.402	0.32592	0.1083:0.0:0.8917:0.0	.	2;2	Q5VWZ2-2;Q5VWZ2	.;LYPL1_HUMAN	T	2	ENSP00000355895:A2T;ENSP00000355894:A2T	ENSP00000355894:A2T	A	+	1	0	LYPLAL1	217413859	0.998000	0.40836	0.970000	0.41538	0.559000	0.35586	2.444000	0.44890	1.238000	0.43771	0.591000	0.81541	GCG	LYPLAL1	-	NULL		0.672	LYPLAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPLAL1	HGNC	protein_coding	OTTHUMT00000090208.1	G	NM_138794		219347236	+1	no_errors	ENST00000366928	ensembl	human	known	70_37	missense	SNP	0.776	A
NARFL	64428	genome.wustl.edu	37	16	789659	789659	+	Missense_Mutation	SNP	T	T	A			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr16:789659T>A	ENST00000251588.2	-	2	162	c.146A>T	c.(145-147)tAc>tTc	p.Y49F	NARFL_ENST00000301694.5_Missense_Mutation_p.Y49F|NARFL_ENST00000568545.1_5'Flank|NARFL_ENST00000540986.1_5'UTR	NM_022493.1	NP_071938.1	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	49					hematopoietic progenitor cell differentiation (GO:0002244)|iron-sulfur cluster assembly (GO:0016226)|oxygen homeostasis (GO:0032364)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				AATTTGGAAGTAGCTCCCGTC	0.542																																																	0													218.0	178.0	191.0					16																	789659		2200	4300	6500	SO:0001583	missense	64428			AY129231	CCDS10425.1	16p13.3	2009-12-17			ENSG00000103245	ENSG00000103245			14179	protein-coding gene	gene with protein product	"""iron-only hydrogenase-like protein 1"""	611118				16956324	Standard	NM_022493		Approved	FLJ21988, PRN, HPRN, IOP1	uc002cjr.3	Q9H6Q4	OTTHUMG00000122093	ENST00000251588.2:c.146A>T	16.37:g.789659T>A	ENSP00000251588:p.Tyr49Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L385|B3KTJ3|Q53GC6|Q96S10|Q9H6J8	Missense_Mutation	SNP	pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like	p.Y49F	ENST00000251588.2	37	c.146	CCDS10425.1	16	.	.	.	.	.	.	.	.	.	.	T	17.27	3.346436	0.61073	.	.	ENSG00000103245	ENST00000251588;ENST00000301694	T;T	0.31247	1.5;1.5	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.48572	0.1507	M	0.70903	2.155	0.80722	D	1	D;D;P	0.59357	0.985;0.985;0.723	P;P;B	0.62813	0.907;0.907;0.274	T	0.43686	-0.9376	10	0.17369	T	0.5	.	13.3953	0.60849	0.0:0.0:0.0:1.0	.	49;49;49	B4DT78;B4DEE7;Q9H6Q4	.;.;NARFL_HUMAN	F	49	ENSP00000251588:Y49F;ENSP00000301694:Y49F	ENSP00000251588:Y49F	Y	-	2	0	NARFL	729660	1.000000	0.71417	0.996000	0.52242	0.144000	0.21451	7.462000	0.80851	1.788000	0.52465	0.477000	0.44152	TAC	NARFL	-	NULL		0.542	NARFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NARFL	HGNC	protein_coding	OTTHUMT00000242855.1	T	NM_022493		789659	-1	no_errors	ENST00000251588	ensembl	human	known	70_37	missense	SNP	1.000	A
NDUFA9	4704	genome.wustl.edu	37	12	4764034	4764034	+	Missense_Mutation	SNP	A	A	C			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr12:4764034A>C	ENST00000266544.5	+	3	284	c.264A>C	c.(262-264)aaA>aaC	p.K88N	RP11-500M8.7_ENST00000536588.1_3'UTR|NDUFA9_ENST00000542369.1_3'UTR	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	88					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|sodium ion transport (GO:0006814)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						GGTGTGATAAATATGACATCA	0.388																																					Colon(75;996 1244 23946 25294 29232)												0													113.0	104.0	107.0					12																	4764034		2203	4300	6503	SO:0001583	missense	4704			AF050641	CCDS8532.1	12p13.3	2011-09-14	2002-08-29		ENSG00000139180	ENSG00000139180		"""Mitochondrial respiratory chain complex / Complex I"", ""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	7693	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 22E, member 1"", ""complex I 39kDa subunit"""	603834	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9 (39kD)"""	NDUFS2L		8486360, 19027726	Standard	NM_005002		Approved	SDR22E1, CI-39k	uc001qnc.3	Q16795		ENST00000266544.5:c.264A>C	12.37:g.4764034A>C	ENSP00000266544:p.Lys88Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14076|Q2NKX0	Missense_Mutation	SNP	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_NmrA	p.K88N	ENST00000266544.5	37	c.264	CCDS8532.1	12	.	.	.	.	.	.	.	.	.	.	A	6.585	0.476208	0.12521	.	.	ENSG00000139180	ENST00000266544;ENST00000535050	D;D	0.93307	-3.2;-1.86	5.59	-11.2	0.00127	NAD(P)-binding domain (1);NmrA-like (1);	0.791526	0.12705	N	0.446056	T	0.81370	0.4808	N	0.19112	0.55	0.51482	D	0.999922	B;B	0.14438	0.01;0.01	B;B	0.23852	0.049;0.049	T	0.57242	-0.7845	10	0.22109	T	0.4	-4.2042	6.9994	0.24801	0.0986:0.1623:0.5003:0.2388	.	88;88	A8K4V2;Q16795	.;NDUA9_HUMAN	N	88;110	ENSP00000266544:K88N;ENSP00000440305:K110N	ENSP00000266544:K88N	K	+	3	2	NDUFA9	4634295	0.001000	0.12720	0.000000	0.03702	0.151000	0.21798	-0.175000	0.09825	-2.769000	0.00366	0.533000	0.62120	AAA	NDUFA9	-	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_NmrA		0.388	NDUFA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFA9	HGNC	protein_coding	OTTHUMT00000398900.2	A	NM_005002		4764034	+1	no_errors	ENST00000266544	ensembl	human	known	70_37	missense	SNP	0.000	C
NLRP3	114548	genome.wustl.edu	37	1	247587315	247587315	+	Silent	SNP	C	C	T	rs147631017		TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr1:247587315C>T	ENST00000336119.3	+	3	1316	c.570C>T	c.(568-570)atC>atT	p.I190I	NLRP3_ENST00000366496.2_Silent_p.I190I|NLRP3_ENST00000391827.2_Silent_p.I190I|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Silent_p.I190I|NLRP3_ENST00000391828.3_Silent_p.I190I|NLRP3_ENST00000366497.2_Silent_p.I190I	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	190					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TTCTGGCCATCGGCAAGACCA	0.572																																																	0								T	,,,,	0,4406		0,0,2203	71.0	61.0	65.0		570,570,570,570,570	-8.5	0.0	1	dbSNP_134	65	3,8597	818.8+/-406.8	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NLRP3	NM_001079821.2,NM_001127461.2,NM_001127462.2,NM_004895.4,NM_183395.2	,,,,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,,,,	190/1037,190/980,190/980,190/1037,190/923	247587315	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	114548			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.570C>T	1.37:g.247587315C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.I190	ENST00000336119.3	37	c.570	CCDS1632.1	1																																																																																			NLRP3	-	NULL		0.572	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP3	HGNC	protein_coding	OTTHUMT00000097740.1	C	NM_004895		247587315	+1	no_errors	ENST00000336119	ensembl	human	known	70_37	silent	SNP	0.002	T
NOD1	10392	genome.wustl.edu	37	7	30468996	30468996	+	Missense_Mutation	SNP	T	T	C			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr7:30468996T>C	ENST00000222823.4	-	13	3308	c.2783A>G	c.(2782-2784)gAg>gGg	p.E928G		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	928					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TTACCAAATCTCTGTTATGCC	0.468																																																	0													299.0	292.0	295.0					7																	30468996		2203	4300	6503	SO:0001583	missense	10392			AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.2783A>G	7.37:g.30468996T>C	ENSP00000222823:p.Glu928Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD	p.E928G	ENST00000222823.4	37	c.2783	CCDS5427.1	7	.	.	.	.	.	.	.	.	.	.	T	12.79	2.042778	0.36085	.	.	ENSG00000106100	ENST00000222823	T	0.54279	0.58	6.17	6.17	0.99709	.	0.095814	0.64402	D	0.000001	T	0.51584	0.1683	M	0.62154	1.92	0.80722	D	1	P	0.49635	0.926	B	0.41571	0.36	T	0.57219	-0.7849	10	0.52906	T	0.07	.	13.214	0.59844	0.0:0.0:0.0:1.0	.	928	Q9Y239	NOD1_HUMAN	G	928	ENSP00000222823:E928G	ENSP00000222823:E928G	E	-	2	0	NOD1	30435521	1.000000	0.71417	0.992000	0.48379	0.005000	0.04900	5.263000	0.65507	2.371000	0.80710	0.533000	0.62120	GAG	NOD1	-	NULL		0.468	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOD1	HGNC	protein_coding	OTTHUMT00000250443.2	T			30468996	-1	no_errors	ENST00000222823	ensembl	human	known	70_37	missense	SNP	0.999	C
NRP1	8829	genome.wustl.edu	37	10	33502528	33502528	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr10:33502528C>G	ENST00000265371.4	-	10	1925	c.1400G>C	c.(1399-1401)aGt>aCt	p.S467T	NRP1_ENST00000374823.5_Missense_Mutation_p.S467T|NRP1_ENST00000374816.3_Missense_Mutation_p.S467T|RP11-342D11.2_ENST00000451530.1_RNA|NRP1_ENST00000374867.2_Missense_Mutation_p.S467T|NRP1_ENST00000374875.1_Missense_Mutation_p.S286T|NRP1_ENST00000432372.2_Missense_Mutation_p.S467T|NRP1_ENST00000395995.1_Missense_Mutation_p.S467T|NRP1_ENST00000374822.4_Missense_Mutation_p.S467T|NRP1_ENST00000374821.5_Missense_Mutation_p.S467T			O14786	NRP1_HUMAN	neuropilin 1	467	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GCCAGAGCGACTGGTTACCAG	0.517																																					Melanoma(104;886 1489 44640 45944 51153)												0													161.0	146.0	151.0					10																	33502528		2203	4300	6503	SO:0001583	missense	8829			AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.1400G>C	10.37:g.33502528C>G	ENSP00000265371:p.Ser467Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	pfam_CUB,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB,smart_CUB,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,pirsf_Neuropilin,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom,prints_MAM_dom	p.S467T	ENST00000265371.4	37	c.1400	CCDS7177.1	10	.	.	.	.	.	.	.	.	.	.	C	31	5.070950	0.93950	.	.	ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000395995;ENST00000374822;ENST00000374821;ENST00000374823;ENST00000374816;ENST00000432372	D;D;D;D;D;D;D;D;D	0.98264	-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83	5.64	5.64	0.86602	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.98074	0.9365	L	0.49513	1.565	0.80722	D	1	P;P;P;P;P;P;P;P;P	0.42757	0.762;0.733;0.736;0.457;0.627;0.789;0.6;0.762;0.597	P;P;P;P;B;P;P;P;B	0.51999	0.65;0.597;0.687;0.543;0.233;0.463;0.597;0.65;0.319	D	0.98934	1.0788	10	0.66056	D	0.02	-23.052	19.7049	0.96069	0.0:1.0:0.0:0.0	.	467;467;467;467;467;467;467;286;467	A8K9V7;E7EX60;Q5T7F0;Q5T7F1;O14786-2;Q68DN3;O14786;Q5JWQ6;E9PEP6	.;.;.;.;.;.;NRP1_HUMAN;.;.	T	467;286;467;467;467;467;467;467;140	ENSP00000265371:S467T;ENSP00000364009:S286T;ENSP00000364001:S467T;ENSP00000379317:S467T;ENSP00000363955:S467T;ENSP00000363954:S467T;ENSP00000363956:S467T;ENSP00000363949:S467T;ENSP00000408911:S140T	ENSP00000265371:S467T	S	-	2	0	NRP1	33542534	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.995000	0.70631	2.655000	0.90218	0.591000	0.81541	AGT	NRP1	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pirsf_Neuropilin,pfscan_Coagulation_fac_5/8-C_type_dom		0.517	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NRP1	HGNC	protein_coding	OTTHUMT00000051203.2	C			33502528	-1	no_errors	ENST00000265371	ensembl	human	known	70_37	missense	SNP	1.000	G
OXSR1	9943	genome.wustl.edu	37	3	38232252	38232252	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr3:38232252C>G	ENST00000446845.1	+	3	586	c.214C>G	c.(214-216)Cat>Gat	p.H72D	OXSR1_ENST00000311806.3_Missense_Mutation_p.H72D					oxidative stress responsive 1											skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TCAATGCCATCATCCTAATAT	0.353																																																	0													112.0	102.0	105.0					3																	38232252		2203	4300	6503	SO:0001583	missense	9943			AB017642	CCDS2675.1	3p22.2	2013-05-17	2013-05-17	2004-11-26	ENSG00000172939	ENSG00000172939			8508	protein-coding gene	gene with protein product		604046	"""oxidative-stress responsive 1"""	OSR1		10083736	Standard	XM_005265638		Approved	KIAA1101	uc003chy.3	O95747	OTTHUMG00000131084	ENST00000446845.1:c.214C>G	3.37:g.38232252C>G	ENSP00000415851:p.His72Asp	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.H72D	ENST00000446845.1	37	c.214		3	.	.	.	.	.	.	.	.	.	.	C	25.5	4.642715	0.87859	.	.	ENSG00000172939	ENST00000446845;ENST00000311806	T;T	0.78481	-1.18;-1.18	5.4	5.4	0.78164	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	D	0.91345	0.7270	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93178	0.6572	10	0.87932	D	0	-13.4868	18.1113	0.89537	0.0:1.0:0.0:0.0	.	72	O95747	OXSR1_HUMAN	D	72	ENSP00000415851:H72D;ENSP00000311713:H72D	ENSP00000311713:H72D	H	+	1	0	OXSR1	38207256	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.215000	0.77966	2.704000	0.92352	0.655000	0.94253	CAT	OXSR1	-	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		0.353	OXSR1-004	NOVEL	basic|exp_conf	protein_coding	OXSR1	HGNC	protein_coding	OTTHUMT00000342708.1	C	NM_005109		38232252	+1	no_errors	ENST00000311806	ensembl	human	known	70_37	missense	SNP	1.000	G
PABPC5	140886	genome.wustl.edu	37	X	90691628	90691628	+	Missense_Mutation	SNP	T	T	C			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chrX:90691628T>C	ENST00000312600.3	+	2	1266	c.1052T>C	c.(1051-1053)tTt>tCt	p.F351S	PABPC5-AS1_ENST00000456187.1_RNA|PABPC5_ENST00000373105.1_Missense_Mutation_p.F187S	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	351	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						TTTTCCTCTTTTGAAGAGGCT	0.532																																																	0													49.0	48.0	49.0					X																	90691628		2203	4300	6503	SO:0001583	missense	140886			AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.1052T>C	X.37:g.90691628T>C	ENSP00000308012:p.Phe351Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234	p.F351S	ENST00000312600.3	37	c.1052	CCDS14460.1	X	.	.	.	.	.	.	.	.	.	.	T	5.264	0.234115	0.09969	.	.	ENSG00000174740	ENST00000373105;ENST00000312600;ENST00000402906	T;T	0.14266	2.52;2.52	4.14	1.71	0.24356	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.115131	0.64402	D	0.000012	T	0.04137	0.0115	N	0.01188	-0.97	0.33063	D	0.534339	B	0.13594	0.008	B	0.14578	0.011	T	0.12451	-1.0547	10	0.62326	D	0.03	.	5.7548	0.18166	0.0:0.3499:0.0:0.6501	.	351	Q96DU9	PABP5_HUMAN	S	187;351;319	ENSP00000362197:F187S;ENSP00000308012:F351S	ENSP00000308012:F351S	F	+	2	0	PABPC5	90578284	1.000000	0.71417	0.982000	0.44146	0.264000	0.26372	5.653000	0.67967	0.243000	0.21327	-0.509000	0.04479	TTT	PABPC5	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234		0.532	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC5	HGNC	protein_coding	OTTHUMT00000057429.1	T	NM_080832		90691628	+1	no_errors	ENST00000312600	ensembl	human	known	70_37	missense	SNP	0.998	C
PAK7	57144	genome.wustl.edu	37	20	9546832	9546832	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr20:9546832G>A	ENST00000378429.3	-	6	1736	c.1190C>T	c.(1189-1191)aCg>aTg	p.T397M	PAK7_ENST00000378423.1_Missense_Mutation_p.T397M|PAK7_ENST00000353224.5_Missense_Mutation_p.T397M	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	397	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.T397K(2)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GTAGGAAGCCGTGGAGATGTA	0.617																																																	2	Substitution - Missense(2)	lung(2)											122.0	115.0	117.0					20																	9546832		2203	4300	6503	SO:0001583	missense	57144			AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1190C>T	20.37:g.9546832G>A	ENSP00000367686:p.Thr397Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom	p.T397M	ENST00000378429.3	37	c.1190	CCDS13107.1	20	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504081	0.85176	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.32988	1.43;1.43;1.43	5.94	5.94	0.96194	.	0.272621	0.42420	D	0.000709	T	0.44414	0.1292	L	0.44542	1.39	0.58432	D	0.999995	D;B	0.76494	0.999;0.297	P;B	0.56088	0.791;0.038	T	0.04400	-1.0954	9	.	.	.	.	20.3593	0.98849	0.0:0.0:1.0:0.0	.	397;397	B0AZM9;Q9P286	.;PAK7_HUMAN	M	397;397;397;345	ENSP00000367686:T397M;ENSP00000322957:T397M;ENSP00000367679:T397M	.	T	-	2	0	PAK7	9494832	0.996000	0.38824	0.958000	0.39756	0.849000	0.48306	2.553000	0.45837	2.807000	0.96579	0.591000	0.81541	ACG	PAK7	-	NULL		0.617	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAK7	HGNC	protein_coding	OTTHUMT00000077962.1	G			9546832	-1	no_errors	ENST00000353224	ensembl	human	known	70_37	missense	SNP	1.000	A
PALM	5064	genome.wustl.edu	37	19	736065	736065	+	Silent	SNP	C	C	T			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr19:736065C>T	ENST00000338448.5	+	7	535	c.489C>T	c.(487-489)ccC>ccT	p.P163P	PALM_ENST00000264560.7_Silent_p.P163P|PALM_ENST00000593172.1_3'UTR	NM_002579.2	NP_002570.2	O75781	PALM_HUMAN	paralemmin	163					cellular component movement (GO:0006928)|cellular response to electrical stimulus (GO:0071257)|cytoskeleton organization (GO:0007010)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of filopodium assembly (GO:0051491)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)|synapse maturation (GO:0060074)	apicolateral plasma membrane (GO:0016327)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasmic membrane-bounded vesicle (GO:0016023)|dendrite membrane (GO:0032590)|dendritic spine membrane (GO:0032591)|filopodium membrane (GO:0031527)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		ACGGCTCCCCCATGATGAAGG	0.677																																																	0													104.0	101.0	102.0					19																	736065		2203	4300	6503	SO:0001819	synonymous_variant	5064			Y16270	CCDS32857.1, CCDS32858.1	19p13.3	2008-07-17				ENSG00000099864			8594	protein-coding gene	gene with protein product		608134				9615234, 9813098	Standard	XM_005259565		Approved	KIAA0270	uc002lpm.1	O75781		ENST00000338448.5:c.489C>T	19.37:g.736065C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O43359|O95673|Q92559|Q9UPJ4|Q9UQS2|Q9UQS3	Silent	SNP	pfam_Paralemmin	p.P163	ENST00000338448.5	37	c.489	CCDS32857.1	19																																																																																			PALM	-	pfam_Paralemmin		0.677	PALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALM	HGNC	protein_coding	OTTHUMT00000457592.1	C	NM_002579		736065	+1	no_errors	ENST00000338448	ensembl	human	known	70_37	silent	SNP	0.852	T
PCDHGB4	8641	genome.wustl.edu	37	5	140769353	140769353	+	Silent	SNP	C	C	T	rs368188508		TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr5:140769353C>T	ENST00000519479.1	+	1	1902	c.1902C>T	c.(1900-1902)gaC>gaT	p.D634D	PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	634	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGACAGGGACGCCGTCCGCC	0.697																																																	0								C	,,,,,,,,,,,	1,4241		0,1,2120	40.0	44.0	43.0		1902,,,,,,,,,,,1902	3.3	0.9	5		43	0,8454		0,0,4227	no	coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous	PCDHGB4,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_003736.2,NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_032098.1	,,,,,,,,,,,	0,1,6347	TT,TC,CC		0.0,0.0236,0.0079	,,,,,,,,,,,	634/924,,,,,,,,,,,634/804	140769353	1,12695	2121	4227	6348	SO:0001819	synonymous_variant	8641			AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1902C>T	5.37:g.140769353C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O15099|Q2M267|Q9UN64	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D634	ENST00000519479.1	37	c.1902	CCDS54928.1	5																																																																																			PCDHGB4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.697	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB4	HGNC	protein_coding	OTTHUMT00000374745.1	C	NM_003736		140769353	+1	no_errors	ENST00000519479	ensembl	human	known	70_37	silent	SNP	0.954	T
PDIA5	10954	genome.wustl.edu	37	3	122869160	122869160	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr3:122869160C>T	ENST00000316218.7	+	14	1317	c.1222C>T	c.(1222-1224)Cgg>Tgg	p.R408W	PDIA5_ENST00000467157.1_3'UTR	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	408	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		GGACAACTTCCGGGAGACCCT	0.602																																																	0													94.0	87.0	89.0					3																	122869160		2203	4300	6503	SO:0001583	missense	10954			AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"""Protein disulfide isomerases"""	24811	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 5"""			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.1222C>T	3.37:g.122869160C>T	ENSP00000323313:p.Arg408Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DN95|Q9BV43	Missense_Mutation	SNP	pfam_Thioredoxin_domain,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,prints_Thioredoxin	p.R408W	ENST00000316218.7	37	c.1222	CCDS3020.1	3	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874570	0.72180	.	.	ENSG00000065485	ENST00000316218	T	0.03468	3.92	4.36	4.36	0.52297	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.11750	0.0286	L	0.55103	1.725	0.58432	D	0.999998	D	0.89917	1.0	D	0.68192	0.956	T	0.00346	-1.1800	10	0.72032	D	0.01	.	9.9405	0.41578	0.2643:0.7357:0.0:0.0	.	408	Q14554	PDIA5_HUMAN	W	408	ENSP00000323313:R408W	ENSP00000323313:R408W	R	+	1	2	PDIA5	124351850	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.695000	0.47043	2.259000	0.74868	0.655000	0.94253	CGG	PDIA5	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold		0.602	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDIA5	HGNC	protein_coding	OTTHUMT00000356192.1	C	NM_006810		122869160	+1	no_errors	ENST00000316218	ensembl	human	known	70_37	missense	SNP	1.000	T
PEX5	5830	genome.wustl.edu	37	12	7360372	7360372	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr12:7360372G>T	ENST00000455147.2	+	12	1664	c.1084G>T	c.(1084-1086)Gtg>Ttg	p.V362L	PEX5_ENST00000266564.3_Missense_Mutation_p.V354L|PEX5_ENST00000412720.2_Missense_Mutation_p.V383L|PEX5_ENST00000420616.2_Missense_Mutation_p.V362L|PEX5_ENST00000434354.2_Missense_Mutation_p.V377L|PEX5_ENST00000266563.5_Missense_Mutation_p.V325L	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	362					cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						TGAGGCAGCTGTGCAGCAGGA	0.547																																																	0													124.0	120.0	122.0					12																	7360372		2203	4300	6503	SO:0001583	missense	5830			U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"""Tetratricopeptide (TTC) repeat domain containing"""	9719	protein-coding gene	gene with protein product		600414	"""peroxisome receptor 1"""	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.1084G>T	12.37:g.7360372G>T	ENSP00000400647:p.Val362Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V377L	ENST00000455147.2	37	c.1129	CCDS44823.1	12	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805775	0.70682	.	.	ENSG00000139197	ENST00000455147;ENST00000266563;ENST00000434354;ENST00000420616;ENST00000412720;ENST00000396637;ENST00000266564	T;T;T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43	4.95	4.95	0.65309	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.119985	0.56097	D	0.000030	T	0.81800	0.4899	L	0.44542	1.39	0.80722	D	1	P;P;B;B;B	0.52842	0.557;0.956;0.375;0.325;0.299	B;P;B;B;B	0.50314	0.124;0.637;0.308;0.205;0.205	D	0.84230	0.0466	10	0.72032	D	0.01	.	18.3744	0.90431	0.0:0.0:1.0:0.0	.	383;377;362;354;325	B4E0T2;B4DZ45;P50542;P50542-3;P50542-2	.;.;PEX5_HUMAN;.;.	L	362;325;377;362;383;332;354	ENSP00000400647:V362L;ENSP00000266563:V325L;ENSP00000407401:V377L;ENSP00000410159:V362L;ENSP00000391601:V383L;ENSP00000379877:V332L;ENSP00000266564:V354L	ENSP00000266563:V325L	V	+	1	0	PEX5	7251639	1.000000	0.71417	0.977000	0.42913	0.996000	0.88848	7.752000	0.85141	2.572000	0.86782	0.491000	0.48974	GTG	PEX5	-	pfscan_TPR-contain_dom		0.547	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX5	HGNC	protein_coding	OTTHUMT00000398611.1	G	NM_000319		7360372	+1	no_errors	ENST00000434354	ensembl	human	known	70_37	missense	SNP	1.000	T
PRKACA	5566	genome.wustl.edu	37	19	14200150	14200150	+	IGR	SNP	C	C	G			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr19:14200150C>G	ENST00000308677.4	-	0	2677				PRKACA_ENST00000350356.3_5'Flank|SAMD1_ENST00000533683.2_Missense_Mutation_p.E221Q|SAMD1_ENST00000541938.1_5'Flank	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha						activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|carbohydrate metabolic process (GO:0005975)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to glucagon stimulus (GO:0071377)|cellular response to glucose stimulus (GO:0071333)|cellular response to parathyroid hormone stimulus (GO:0071374)|cytosolic calcium ion homeostasis (GO:0051480)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|mitotic cell cycle (GO:0000278)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of protein export from nucleus (GO:0046827)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of insulin secretion (GO:0050796)|regulation of osteoblast differentiation (GO:0045667)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein binding (GO:0043393)|regulation of protein processing (GO:0070613)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic transmission (GO:0050804)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|calcium channel complex (GO:0034704)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|protein kinase A regulatory subunit binding (GO:0034237)|protein kinase binding (GO:0019901)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						tcttcttTCTCAAGTACTCGC	0.522																																																	0													51.0	57.0	55.0					19																	14200150		1850	3668	5518	SO:0001628	intergenic_variant	90378				CCDS12304.1, CCDS12305.1	19p13.1	2012-10-02				ENSG00000072062	2.7.11.1		9380	protein-coding gene	gene with protein product		601639				8884279	Standard	NM_002730		Approved	PKACa	uc002myc.3	P17612			19.37:g.14200150C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	Missense_Mutation	SNP	pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.E221Q	ENST00000308677.4	37	c.661	CCDS12304.1	19	.	.	.	.	.	.	.	.	.	.	C	6.440	0.449332	0.12223	.	.	ENSG00000141858	ENST00000533683	T	0.47528	0.84	3.52	2.28	0.28536	.	0.857433	0.09638	N	0.775366	T	0.30916	0.0780	N	0.19112	0.55	0.26447	N	0.975672	B	0.14438	0.01	B	0.11329	0.006	T	0.14420	-1.0473	10	0.32370	T	0.25	-18.0068	7.8791	0.29612	0.0:0.6476:0.3524:0.0	.	221	E9PIW9	.	Q	221	ENSP00000431971:E221Q	ENSP00000431971:E221Q	E	-	1	0	SAMD1	14061150	0.939000	0.31865	1.000000	0.80357	0.019000	0.09904	1.535000	0.36061	1.670000	0.50864	0.462000	0.41574	GAG	SAMD1	-	NULL		0.522	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD1	HGNC	protein_coding	OTTHUMT00000459004.1	C	NM_002730		14200150	-1	no_errors	ENST00000533683	ensembl	human	novel	70_37	missense	SNP	0.999	G
SLC5A2	6524	genome.wustl.edu	37	16	31500316	31500316	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr16:31500316C>T	ENST00000330498.3	+	11	1415	c.1396C>T	c.(1396-1398)Ccc>Tcc	p.P466S	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	466					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	CCTGGCACCGCCCGTGTCCGC	0.662																																																	0													39.0	37.0	38.0					16																	31500316		2197	4299	6496	SO:0001583	missense	6524				CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"""Solute carriers"""	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1396C>T	16.37:g.31500316C>T	ENSP00000327943:p.Pro466Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRD2	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.P466S	ENST00000330498.3	37	c.1396	CCDS10714.1	16	.	.	.	.	.	.	.	.	.	.	C	25.6	4.651353	0.88056	.	.	ENSG00000140675	ENST00000330498	D	0.88741	-2.42	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	D	0.93612	0.7960	M	0.72576	2.205	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93643	0.6966	10	0.54805	T	0.06	.	15.5975	0.76599	0.0:1.0:0.0:0.0	.	466	P31639	SC5A2_HUMAN	S	466	ENSP00000327943:P466S	ENSP00000327943:P466S	P	+	1	0	SLC5A2	31407817	1.000000	0.71417	0.612000	0.29024	0.599000	0.36880	7.570000	0.82390	2.549000	0.85964	0.561000	0.74099	CCC	SLC5A2	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr		0.662	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A2	HGNC	protein_coding	OTTHUMT00000255627.2	C			31500316	+1	no_errors	ENST00000330498	ensembl	human	known	70_37	missense	SNP	0.996	T
SMCHD1	23347	genome.wustl.edu	37	18	2728529	2728529	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr18:2728529C>T	ENST00000320876.6	+	23	3186	c.2848C>T	c.(2848-2850)Cag>Tag	p.Q950*	SMCHD1_ENST00000261598.8_Nonsense_Mutation_p.Q950*|RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000609587.1_3'UTR	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	950					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TTTCCCATTTCAGGTGGAAGT	0.338																																																	0													97.0	92.0	93.0					18																	2728529		1829	4082	5911	SO:0001587	stop_gained	23347			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.2848C>T	18.37:g.2728529C>T	ENSP00000326603:p.Gln950*	Somatic		WXS	Illumina HiSeq	Phase_IV	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Nonsense_Mutation	SNP	pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_ATPase-like_ATP-bd,smart_SMC_hinge	p.Q950*	ENST00000320876.6	37	c.2848	CCDS45822.1	18	.	.	.	.	.	.	.	.	.	.	C	46	12.282903	0.99653	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	.	.	.	5.84	5.84	0.93424	.	0.213668	0.43110	D	0.000616	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-7.0426	20.1535	0.98095	0.0:1.0:0.0:0.0	.	.	.	.	X	950	.	ENSP00000261598:Q950X	Q	+	1	0	SMCHD1	2718529	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.652000	0.67959	2.764000	0.94973	0.650000	0.86243	CAG	SMCHD1	-	NULL		0.338	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCHD1	HGNC	protein_coding	OTTHUMT00000441082.2	C			2728529	+1	no_errors	ENST00000320876	ensembl	human	known	70_37	nonsense	SNP	1.000	T
SPAST	6683	genome.wustl.edu	37	2	32339750	32339750	+	Silent	SNP	T	T	C			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr2:32339750T>C	ENST00000315285.3	+	5	851	c.726T>C	c.(724-726)acT>acC	p.T242T	SPAST_ENST00000345662.1_Silent_p.T210T	NM_014946.3	NP_055761.2			spastin											breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TAACACACACTAGTAATTCAC	0.393																																																	0													77.0	79.0	78.0					2																	32339750		2203	4300	6503	SO:0001819	synonymous_variant	6683			AJ246001	CCDS1778.1, CCDS1779.1	2p24-p21	2014-09-17	2005-03-15	2005-03-17	ENSG00000021574	ENSG00000021574		"""ATPases / AAA-type"""	11233	protein-coding gene	gene with protein product		604277	"""spastic paraplegia 4 (autosomal dominant; spastin)"""	SPG4		10493830, 10610178	Standard	NM_014946		Approved	FSP2, ADPSP, KIAA1083	uc002roc.3	Q9UBP0	OTTHUMG00000128455	ENST00000315285.3:c.726T>C	2.37:g.32339750T>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_ATPase_AAA_core,pfam_MIT,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_MIT,smart_AAA+_ATPase,pirsf_Spastin	p.T242	ENST00000315285.3	37	c.726	CCDS1778.1	2																																																																																			SPAST	-	pirsf_Spastin		0.393	SPAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAST	HGNC	protein_coding	OTTHUMT00000250253.1	T	NM_199436		32339750	+1	no_errors	ENST00000315285	ensembl	human	known	70_37	silent	SNP	0.999	C
SRGAP1	57522	genome.wustl.edu	37	12	64456756	64456756	+	Silent	SNP	G	G	A	rs137909926	byFrequency	TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr12:64456756G>A	ENST00000355086.3	+	7	1385	c.861G>A	c.(859-861)gcG>gcA	p.A287A	SRGAP1_ENST00000357825.3_Silent_p.A287A|SRGAP1_ENST00000543397.1_Silent_p.A247A|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	287	F-BAR domain.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.A287A(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ATCTGTCTGCGGAGTACAACC	0.413													G|||	2	0.000399361	0.0008	0.0	5008	,	,		18262	0.0		0.0	False		,,,				2504	0.001																1	Substitution - coding silent(1)	endometrium(1)						G		2,4404	4.2+/-10.8	0,2,2201	93.0	85.0	88.0		861	-0.6	1.0	12	dbSNP_134	88	0,8600		0,0,4300	no	coding-synonymous	SRGAP1	NM_020762.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		287/1086	64456756	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	57522			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.861G>A	12.37:g.64456756G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H8A3|Q9P2P2	Silent	SNP	pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.A287	ENST00000355086.3	37	c.861	CCDS8967.1	12																																																																																			SRGAP1	-	NULL		0.413	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRGAP1	HGNC	protein_coding	OTTHUMT00000400896.1	G			64456756	+1	no_errors	ENST00000355086	ensembl	human	known	70_37	silent	SNP	1.000	A
SRPX2	27286	genome.wustl.edu	37	X	99920650	99920650	+	Silent	SNP	A	A	G			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chrX:99920650A>G	ENST00000373004.3	+	7	1205	c.777A>G	c.(775-777)gtA>gtG	p.V259V		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	259	HYR. {ECO:0000255|PROSITE- ProRule:PRU00113}.				angiogenesis (GO:0001525)|cell motility (GO:0048870)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of synapse assembly (GO:0051965)|regulation of phosphorylation (GO:0042325)|single organismal cell-cell adhesion (GO:0016337)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|excitatory synapse (GO:0060076)|extracellular space (GO:0005615)|synaptic membrane (GO:0097060)	hepatocyte growth factor binding (GO:0036458)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						TTGTGAAAGTACAAGGTCAGA	0.483																																																	0													125.0	120.0	122.0					X																	99920650		2203	4300	6503	SO:0001819	synonymous_variant	27286			AF393649	CCDS14471.1	Xq21.33-q23	2011-01-25	2011-01-25		ENSG00000102359	ENSG00000102359			30668	protein-coding gene	gene with protein product		300642	"""sushi-repeat-containing protein, X-linked 2"""			9864177	Standard	NM_014467		Approved	SRPUL	uc004egb.3	O60687	OTTHUMG00000022003	ENST00000373004.3:c.777A>G	X.37:g.99920650A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQT3|Q8WW85	Silent	SNP	pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,superfamily_Thioredoxin-like_fold,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP	p.V259	ENST00000373004.3	37	c.777	CCDS14471.1	X																																																																																			SRPX2	-	pfam_Hyalin,pfscan_Hyalin		0.483	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPX2	HGNC	protein_coding	OTTHUMT00000057486.1	A	NM_014467		99920650	+1	no_errors	ENST00000373004	ensembl	human	known	70_37	silent	SNP	0.986	G
SSR4	6748	genome.wustl.edu	37	X	153059924	153059924	+	5'UTR	SNP	G	G	C			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chrX:153059924G>C	ENST00000320857.3	+	0	954				SSR4_ENST00000370085.3_5'Flank|IDH3G_ENST00000217901.5_5'UTR|IDH3G_ENST00000497043.1_5'Flank|IDH3G_ENST00000427365.2_5'Flank|SSR4_ENST00000370087.1_Intron|IDH3G_ENST00000370093.1_5'Flank|IDH3G_ENST00000370092.3_5'UTR|SSR4_ENST00000370086.3_5'Flank	NM_001204526.1	NP_001191455.1	P51571	SSRD_HUMAN	signal sequence receptor, delta						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|Sec61 translocon complex (GO:0005784)				central_nervous_system(1)|endometrium(1)|lung(2)	4	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCTTCCGGCGCCTAGAGCAC	0.706																																																	0																																										SO:0001623	5_prime_UTR_variant	6748			BC032351	CCDS14731.1	Xq28	2011-08-31	2011-08-31		ENSG00000180879	ENSG00000180879			11326	protein-coding gene	gene with protein product	"""translocon-associated protein delta"""	300090				9286695	Standard	NM_001204526		Approved	TRAPD	uc022chw.1	P51571	OTTHUMG00000024212	ENST00000320857.3:c.-131G>C	X.37:g.153059924G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K378|Q53XY1	RNA	SNP	-	NULL	ENST00000320857.3	37	NULL	CCDS14731.1	X																																																																																			SSR4	-	-		0.706	SSR4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SSR4	HGNC	protein_coding	OTTHUMT00000061029.1	G	NM_006280		153059924	+1	no_errors	ENST00000482902	ensembl	human	known	70_37	rna	SNP	0.071	C
TDRD6	221400	genome.wustl.edu	37	6	46656457	46656457	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr6:46656457C>T	ENST00000316081.6	+	1	592	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W	RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.R198W	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	198					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GGGCCTGGCTCGGCGGGTGCC	0.682																																																	0																																										SO:0001583	missense	221400			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.592C>T	6.37:g.46656457C>T	ENSP00000346065:p.Arg198Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.R198W	ENST00000316081.6	37	c.592	CCDS34470.1	6	.	.	.	.	.	.	.	.	.	.	C	12.56	1.975700	0.34848	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.22539	1.95;1.97	5.97	2.11	0.27256	.	0.111735	0.56097	D	0.000037	T	0.27098	0.0664	M	0.72894	2.215	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.70935	0.971;0.936	T	0.13202	-1.0518	10	0.62326	D	0.03	-7.4778	11.7534	0.51862	0.6061:0.2897:0.1041:0.0	.	198;198	F5H5M3;O60522	.;TDRD6_HUMAN	W	198	ENSP00000443299:R198W;ENSP00000346065:R198W	ENSP00000346065:R198W	R	+	1	2	TDRD6	46764416	0.031000	0.19500	0.454000	0.27019	0.386000	0.30323	1.004000	0.29822	0.095000	0.17434	0.655000	0.94253	CGG	TDRD6	-	NULL		0.682	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	HGNC	protein_coding	OTTHUMT00000040800.1	C	XM_166443		46656457	+1	no_errors	ENST00000316081	ensembl	human	known	70_37	missense	SNP	0.040	T
TLK1	9874	genome.wustl.edu	37	2	171906600	171906600	+	Missense_Mutation	SNP	T	T	G			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr2:171906600T>G	ENST00000431350.2	-	9	1221	c.817A>C	c.(817-819)Atg>Ctg	p.M273L	TLK1_ENST00000521943.1_Missense_Mutation_p.M225L|TLK1_ENST00000360843.3_Missense_Mutation_p.M294L|TLK1_ENST00000434911.2_Missense_Mutation_p.M177L|TLK1_ENST00000442919.2_Missense_Mutation_p.M225L			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	273					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TTCTTGCTCATTGATATGCAC	0.313																																																	0													107.0	100.0	103.0					2																	171906600		2200	4299	6499	SO:0001583	missense	9874			AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.817A>C	2.37:g.171906600T>G	ENSP00000411099:p.Met273Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	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.M273L	ENST00000431350.2	37	c.817	CCDS2241.1	2	.	.	.	.	.	.	.	.	.	.	T	17.19	3.327382	0.60743	.	.	ENSG00000198586	ENST00000442919;ENST00000431350;ENST00000360843;ENST00000521943;ENST00000434911	T;T;T;T;T	0.61627	0.13;0.1;0.09;0.13;0.12	6.03	6.03	0.97812	.	0.036475	0.85682	D	0.000000	T	0.72969	0.3527	M	0.62723	1.935	0.80722	D	1	B;B;P	0.48016	0.112;0.094;0.904	B;B;D	0.64410	0.05;0.171;0.925	T	0.71076	-0.4697	10	0.39692	T	0.17	-11.1474	16.5655	0.84588	0.0:0.0:0.0:1.0	.	177;294;273	B4DX87;Q9UKI8-2;Q9UKI8	.;.;TLK1_HUMAN	L	225;273;294;225;177	ENSP00000402165:M225L;ENSP00000411099:M273L;ENSP00000354089:M294L;ENSP00000428113:M225L;ENSP00000409222:M177L	ENSP00000354089:M294L	M	-	1	0	TLK1	171614846	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.302000	0.77476	0.533000	0.62120	ATG	TLK1	-	NULL		0.313	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLK1	HGNC	protein_coding	OTTHUMT00000255314.1	T	NM_012290		171906600	-1	no_errors	ENST00000431350	ensembl	human	known	70_37	missense	SNP	1.000	G
TP53BP1	7158	genome.wustl.edu	37	15	43701248	43701248	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr15:43701248C>T	ENST00000263801.3	-	26	5684	c.5432G>A	c.(5431-5433)cGa>cAa	p.R1811Q	TP53BP1_ENST00000450115.2_Missense_Mutation_p.R1814Q|TP53BP1_ENST00000382044.4_Missense_Mutation_p.R1816Q|TP53BP1_ENST00000382039.3_Missense_Mutation_p.R1766Q	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1811	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)	p.R1811Q(1)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CTTCCGGGTTCGACAATGCTG	0.498								Other conserved DNA damage response genes																																									1	Substitution - Missense(1)	large_intestine(1)											147.0	111.0	123.0					15																	43701248		2201	4298	6499	SO:0001583	missense	7158			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.5432G>A	15.37:g.43701248C>T	ENSP00000263801:p.Arg1811Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.R1816Q	ENST00000263801.3	37	c.5447	CCDS10096.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.633542|5.633542	0.96682|0.96682	.|.	.|.	ENSG00000067369|ENSG00000067369	ENST00000434595|ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	.|D;D;D;D	.|0.91351	.|-2.83;-2.83;-2.83;-2.83	5.35|5.35	5.35|5.35	0.76521|0.76521	.|BRCT (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96259|0.96259	0.8780|0.8780	M|M	0.88450|0.88450	2.955|2.955	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.997;1.0	.|D;D;D	.|0.85130	.|0.994;0.949;0.997	D|D	0.96645|0.96645	0.9477|0.9477	5|10	.|0.87932	.|D	.|0	-6.8155|-6.8155	19.425|19.425	0.94737|0.94737	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1811;1816;1814	.|Q12888;Q12888-2;F8VY86	.|TP53B_HUMAN;.;.	K|Q	136|1811;1816;1766;1814	.|ENSP00000263801:R1811Q;ENSP00000371475:R1816Q;ENSP00000371470:R1766Q;ENSP00000393497:R1814Q	.|ENSP00000263801:R1811Q	E|R	-|-	1|2	0|0	TP53BP1|TP53BP1	41488540|41488540	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.515000|5.515000	0.67049|0.67049	2.664000|2.664000	0.90586|0.90586	0.655000|0.655000	0.94253|0.94253	GAA|CGA	TP53BP1	-	superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom		0.498	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TP53BP1	HGNC	protein_coding	OTTHUMT00000132897.3	C			43701248	-1	no_errors	ENST00000382044	ensembl	human	known	70_37	missense	SNP	1.000	T
TRIOBP	11078	genome.wustl.edu	37	22	38120147	38120147	+	Silent	SNP	A	A	C			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr22:38120147A>C	ENST00000406386.3	+	7	1839	c.1584A>C	c.(1582-1584)acA>acC	p.T528T		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	528					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					ACCCCAGAACATCCTGCGCCC	0.597																																																	0													63.0	104.0	91.0					22																	38120147		1931	4157	6088	SO:0001819	synonymous_variant	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1584A>C	22.37:g.38120147A>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.T528	ENST00000406386.3	37	c.1584	CCDS43015.1	22																																																																																			TRIOBP	-	NULL		0.597	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2	A			38120147	+1	no_errors	ENST00000406386	ensembl	human	known	70_37	silent	SNP	0.062	C
TSPAN7	7102	genome.wustl.edu	37	X	38533571	38533571	+	Splice_Site	SNP	G	G	A	rs111443672		TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chrX:38533571G>A	ENST00000378482.2	+	4	618		c.e4+1		TSPAN7_ENST00000286824.6_Splice_Site|TM4SF2_ENST00000465127.1_Splice_Site|TSPAN7_ENST00000422612.2_Splice_Site|TSPAN7_ENST00000488893.1_Splice_Site|TSPAN7_ENST00000545599.1_Splice_Site	NM_004615.3	NP_004606.2	P41732	TSN7_HUMAN	tetraspanin 7						viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						GCAGCGCAGCGTAAGTTCCAG	0.502																																																	0													91.0	66.0	75.0					X																	38533571		2200	4296	6496	SO:0001630	splice_region_variant	7102			D29808	CCDS14248.1	Xp11.4	2013-02-14	2005-03-21	2005-03-21	ENSG00000156298	ENSG00000156298		"""CD molecules"", ""Tetraspanins"""	11854	protein-coding gene	gene with protein product		300096	"""transmembrane 4 superfamily member 2"", ""mental retardation, X-linked 58"""	MXS1, TM4SF2, MRX58		12070254	Standard	NM_004615		Approved	DXS1692E, TALLA-1, A15, CD231	uc004deg.4	P41732	OTTHUMG00000024090	ENST00000378482.2:c.441+1G>A	X.37:g.38533571G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R5W7|D3DWB1|Q8WVG5|Q9UEY9	Splice_Site	SNP	-	e5+1	ENST00000378482.2	37	c.519+1	CCDS14248.1	X	.	.	.	.	.	.	.	.	.	.	G	24.3	4.513672	0.85389	.	.	ENSG00000250349;ENSG00000156298;ENSG00000156298;ENSG00000156298;ENSG00000156298	ENST00000465127;ENST00000378482;ENST00000422612;ENST00000286824;ENST00000545599	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0087	0.92863	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RP5-972B16.2;TSPAN7	38418515	1.000000	0.71417	0.997000	0.53966	0.908000	0.53690	9.281000	0.95811	2.436000	0.82500	0.600000	0.82982	.	TSPAN7	-	-		0.502	TSPAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN7	HGNC	protein_coding	OTTHUMT00000356412.1	G		Intron	38533571	+1	no_errors	ENST00000422612	ensembl	human	known	70_37	splice_site	SNP	1.000	A
UCN3	114131	genome.wustl.edu	37	10	5415995	5415995	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr10:5415995G>T	ENST00000380433.3	+	2	540	c.312G>T	c.(310-312)agG>agT	p.R104S		NM_053049.2	NP_444277.2	Q969E3	UCN3_HUMAN	urocortin 3	104					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|digestion (GO:0007586)|positive regulation of insulin secretion (GO:0032024)|positive regulation of membrane potential (GO:0045838)|response to corticosterone (GO:0051412)|response to glucose (GO:0009749)|response to immobilization stress (GO:0035902)|response to starvation (GO:0042594)	axon terminus (GO:0043679)|extracellular space (GO:0005615)|varicosity (GO:0043196)				endometrium(1)|large_intestine(1)	2						CACAGCCCAGGGGAAAGCCAC	0.602																																																	0													68.0	67.0	68.0					10																	5415995		2203	4300	6503	SO:0001583	missense	114131			AF361943	CCDS7065.1	10p15.1	2013-02-28	2012-10-17		ENSG00000178473	ENSG00000178473		"""Endogenous ligands"""	17781	protein-coding gene	gene with protein product	"""stresscopin"", ""prepro-urocortin 3"""	605901				11416224	Standard	NM_053049		Approved	UCNIII, SPC	uc001ihx.1	Q969E3	OTTHUMG00000017594	ENST00000380433.3:c.312G>T	10.37:g.5415995G>T	ENSP00000369798:p.Arg104Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q496H2|Q5SR91	Missense_Mutation	SNP	pfam_Urocortin_II/III	p.R104S	ENST00000380433.3	37	c.312	CCDS7065.1	10	.	.	.	.	.	.	.	.	.	.	G	7.953	0.745384	0.15710	.	.	ENSG00000178473	ENST00000380433	T	0.35789	1.29	5.59	-0.597	0.11653	.	0.349623	0.29737	N	0.011324	T	0.24044	0.0582	L	0.38175	1.15	0.09310	N	1	P	0.35077	0.483	B	0.30943	0.122	T	0.15178	-1.0446	10	0.72032	D	0.01	-4.4205	10.4976	0.44788	0.3861:0.0:0.6139:0.0	.	104	Q969E3	UCN3_HUMAN	S	104	ENSP00000369798:R104S	ENSP00000369798:R104S	R	+	3	2	UCN3	5405995	0.284000	0.24287	0.001000	0.08648	0.014000	0.08584	0.574000	0.23714	-0.112000	0.11979	-0.339000	0.08088	AGG	UCN3	-	NULL		0.602	UCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCN3	HGNC	protein_coding	OTTHUMT00000046547.1	G	NM_053049		5415995	+1	no_errors	ENST00000380433	ensembl	human	known	70_37	missense	SNP	0.004	T
USP51	158880	genome.wustl.edu	37	X	55514364	55514364	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chrX:55514364C>G	ENST00000500968.3	-	2	1091	c.1009G>C	c.(1009-1011)Gag>Cag	p.E337Q	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	337					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						TCCTTTGTCTCACAGGTTGAT	0.373																																																	0													100.0	98.0	99.0					X																	55514364		2203	4300	6503	SO:0001583	missense	158880			BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"""Ubiquitin-specific peptidases"""	23086	protein-coding gene	gene with protein product			"""ubiquitin specific protease 51"""			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.1009G>C	X.37:g.55514364C>G	ENSP00000423333:p.Glu337Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IWJ8	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.E337Q	ENST00000500968.3	37	c.1009	CCDS14370.1	X	.	.	.	.	.	.	.	.	.	.	.	13.11	2.139252	0.37728	.	.	ENSG00000247746	ENST00000500968	T	0.11385	2.78	3.19	2.29	0.28610	.	0.309716	0.34700	U	0.003751	T	0.15739	0.0379	L	0.32530	0.975	0.51482	D	0.999928	D	0.69078	0.997	P	0.61201	0.885	T	0.01661	-1.1301	10	0.56958	D	0.05	.	7.379	0.26845	0.0:0.7347:0.2653:0.0	.	337	Q70EK9	UBP51_HUMAN	Q	337	ENSP00000423333:E337Q	ENSP00000423333:E337Q	E	-	1	0	USP51	55531089	1.000000	0.71417	0.992000	0.48379	0.777000	0.43975	3.119000	0.50422	0.709000	0.31976	0.508000	0.49915	GAG	USP51	-	NULL		0.373	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP51	HGNC	protein_coding	OTTHUMT00000056871.2	C	NM_201286		55514364	-1	no_errors	ENST00000500968	ensembl	human	known	70_37	missense	SNP	1.000	G
VAV3	10451	genome.wustl.edu	37	1	108115882	108115882	+	3'UTR	SNP	C	C	G			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr1:108115882C>G	ENST00000370056.4	-	0	2889				VAV3_ENST00000527011.1_3'UTR|VAV3_ENST00000415432.2_3'UTR|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000544443.1_3'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor						angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		AGTTAATTCACGATGCTGTGC	0.418																																																	0													111.0	95.0	100.0					1																	108115882		692	1591	2283	SO:0001624	3_prime_UTR_variant	10451			AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.*71G>C	1.37:g.108115882C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	RNA	SNP	-	NULL	ENST00000370056.4	37	NULL	CCDS785.1	1																																																																																			VAV3	-	-		0.418	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAV3	HGNC	protein_coding	OTTHUMT00000030242.2	C	NM_006113		108115882	-1	no_errors	ENST00000343258	ensembl	human	known	70_37	rna	SNP	0.722	G
VNN3	55350	genome.wustl.edu	37	6	133047960	133047960	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr6:133047960G>A	ENST00000450865.2	-	3	437	c.365C>T	c.(364-366)gCc>gTc	p.A122V	VNN3_ENST00000367927.5_Silent_p.C243C|VNN3_ENST00000417437.2_Intron|VNN3_ENST00000392393.3_3'UTR|VNN3_ENST00000207771.3_Missense_Mutation_p.P243S|VNN3_ENST00000519686.2_3'UTR|VNN3_ENST00000425515.2_3'UTR|VNN3_ENST00000414302.2_3'UTR|VNN3_ENST00000580813.1_5'Flank|VNN3_ENST00000509351.1_Intron|VNN3_ENST00000427187.2_Intron|VNN3_ENST00000275223.3_Intron|VNN3_ENST00000423615.2_Intron			Q9NY84	VNN3_HUMAN	vanin 3	0	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				nitrogen compound metabolic process (GO:0006807)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		GAGAGGAGGGGCAGCGTGTTG	0.507																																																	0													193.0	141.0	159.0					6																	133047960		2203	4300	6503	SO:0001583	missense	55350			AJ238982		6q23.2	2014-04-09	2010-11-15	2010-11-15	ENSG00000093134	ENSG00000093134	3.5.1.92	"""Vanins"""	16431	other	unknown		606592				10501839, 19932582, 19322213	Standard	NR_028290		Approved	HSA238982	uc010kfs.3	Q9NY84	OTTHUMG00000015589	ENST00000450865.2:c.365C>T	6.37:g.133047960G>A	ENSP00000440245:p.Ala122Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B2DFY0|B2DFY1|B2DFY3|B2DFY5|B2DFY6|B2DFY7|B2DFY8|Q3SX90|Q9BQY2	Missense_Mutation	SNP	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase	p.P243S	ENST00000450865.2	37	c.727		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.65|16.65	3.181738|3.181738	0.57800|0.57800	.|.	.|.	ENSG00000093134|ENSG00000093134	ENST00000450865|ENST00000207771	D|D	0.81579|0.88509	-1.51|-2.39	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	.|0.000000	.|0.64402	.|D	.|0.000005	D|D	0.93271|0.93271	0.7856|0.7856	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	D|D	0.93331|0.93331	0.6701|0.6701	6|7	0.45353|0.66056	T|D	0.12|0.02	-12.3545|-12.3545	19.4477|19.4477	0.94854|0.94854	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	V|S	122|243	ENSP00000440245:A122V|ENSP00000440594:P243S	ENSP00000440245:A122V|ENSP00000440594:P243S	A|P	-|-	2|1	0|0	VNN3|VNN3	133089653|133089653	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.854000|0.854000	0.48673|0.48673	4.949000|4.949000	0.63596|0.63596	2.678000|2.678000	0.91216|0.91216	0.543000|0.543000	0.68304|0.68304	GCC|CCC	VNN3	-	superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase		0.507	VNN3-013	NOVEL	NMD_exception|basic|exp_conf	protein_coding	VNN3	HGNC	protein_coding	OTTHUMT00000398418.1	G	NR_028290		133047960	-1	no_errors	ENST00000207771	ensembl	human	known	70_37	missense	SNP	1.000	A
VPS13B	157680	genome.wustl.edu	37	8	100844677	100844677	+	Silent	SNP	T	T	G			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr8:100844677T>G	ENST00000358544.2	+	52	9597	c.9486T>G	c.(9484-9486)ccT>ccG	p.P3162P	VPS13B_ENST00000357162.2_Silent_p.P3137P|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3162					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GCTCCCTTCCTTGCTGGGACT	0.463																																					Colon(161;2205 2542 7338 31318)												0													71.0	47.0	55.0					8																	100844677		2203	4300	6503	SO:0001819	synonymous_variant	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.9486T>G	8.37:g.100844677T>G		Somatic		WXS	Illumina HiSeq	Phase_IV	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	pfam_Autophagy-rel_C	p.P3162	ENST00000358544.2	37	c.9486	CCDS6280.1	8																																																																																			VPS13B	-	NULL		0.463	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	T	NM_184042		100844677	+1	no_errors	ENST00000358544	ensembl	human	known	70_37	silent	SNP	0.998	G
WRAP53	55135	genome.wustl.edu	37	17	7604112	7604112	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr17:7604112T>A	ENST00000316024.5	+	4	3044	c.696T>A	c.(694-696)taT>taA	p.Y232*	WRAP53_ENST00000457584.2_Nonsense_Mutation_p.Y232*|WRAP53_ENST00000396463.2_Nonsense_Mutation_p.Y232*|WRAP53_ENST00000431639.2_Nonsense_Mutation_p.Y232*|WRAP53_ENST00000534050.1_Nonsense_Mutation_p.Y199*			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	232					positive regulation of telomerase activity (GO:0051973)|telomere formation via telomerase (GO:0032203)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						ACTGCTGGTATTCTCTGATGT	0.547																																																	0													231.0	181.0	198.0					17																	7604112		2203	4300	6503	SO:0001587	stop_gained	55135			AK001247, DQ431240	CCDS11119.1	17p13.1	2014-09-17	2009-02-16	2009-02-16	ENSG00000141499	ENSG00000141499		"""WD repeat domain containing"""	25522	protein-coding gene	gene with protein product	"""telomerase cajal body protein 1"", ""WD-encoding RNA antisense to p53"""	612661	"""WD repeat domain 79"""	WDR79		19179534, 19250907, 19571673, 19342896, 20494116, 21441950	Standard	NM_018081		Approved	FLJ10385, TCAB1	uc010vuh.2	Q9BUR4	OTTHUMG00000134323	ENST00000316024.5:c.696T>A	17.37:g.7604112T>A	ENSP00000324203:p.Tyr232*	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPR9|D3DTQ4|Q08ET9|Q9NW09	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Y232*	ENST00000316024.5	37	c.696	CCDS11119.1	17	.	.	.	.	.	.	.	.	.	.	T	46	12.150362	0.99640	.	.	ENSG00000141499	ENST00000431639;ENST00000316024;ENST00000457584;ENST00000396463;ENST00000534050	.	.	.	4.95	3.87	0.44632	.	0.075055	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.9448	5.5902	0.17297	0.0:0.1979:0.0:0.8021	.	.	.	.	X	232;232;232;232;199	.	ENSP00000324203:Y232X	Y	+	3	2	WRAP53	7544837	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	0.404000	0.20999	1.871000	0.54225	0.368000	0.22195	TAT	WRAP53	-	superfamily_WD40_repeat_dom		0.547	WRAP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRAP53	HGNC	protein_coding	OTTHUMT00000259385.2	T	NM_018081		7604112	+1	no_errors	ENST00000316024	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ZMAT1	84460	genome.wustl.edu	37	X	101141647	101141647	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chrX:101141647C>A	ENST00000372782.3	-	6	609	c.562G>T	c.(562-564)Gat>Tat	p.D188Y	ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Missense_Mutation_p.D17Y|ZMAT1_ENST00000540921.1_Missense_Mutation_p.D188Y	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	188						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						CGGAACATATCTAAAGATGTA	0.333																																																	0													134.0	114.0	121.0					X																	101141647		2202	4300	6502	SO:0001583	missense	84460			Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.562G>T	X.37:g.101141647C>A	ENSP00000361868:p.Asp188Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NDS3|Q96JN6	Missense_Mutation	SNP	superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like	p.D188Y	ENST00000372782.3	37	c.562	CCDS35348.1	X	.	.	.	.	.	.	.	.	.	.	C	15.31	2.794221	0.50102	.	.	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.41065	1.98;1.98;1.01	4.94	3.13	0.36017	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.461215	0.18458	N	0.140602	T	0.22003	0.0530	N	0.08118	0	0.28197	N	0.927507	P	0.45634	0.863	B	0.41036	0.346	T	0.05099	-1.0906	10	0.48119	T	0.1	-3.2977	7.3266	0.26560	0.0:0.7285:0.1729:0.0986	.	188	Q5H9K5	ZMAT1_HUMAN	Y	188;188;17	ENSP00000361868:D188Y;ENSP00000437529:D188Y;ENSP00000413044:D17Y	ENSP00000361868:D188Y	D	-	1	0	ZMAT1	101028303	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	3.197000	0.51028	0.573000	0.29400	0.594000	0.82650	GAT	ZMAT1	-	smart_Znf_U1,smart_Znf_C2H2-like		0.333	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMAT1	HGNC	protein_coding	OTTHUMT00000057598.1	C			101141647	-1	no_errors	ENST00000372782	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF419	79744	genome.wustl.edu	37	19	58004475	58004475	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A411-01A-11D-A243-09	TCGA-EA-A411-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4612db5e-d3f3-48a6-9349-f94cbf9b8d3d	13cc40ed-7de6-42ff-885b-bd6965e8d657	g.chr19:58004475G>C	ENST00000221735.7	+	5	736	c.550G>C	c.(550-552)Gag>Cag	p.E184Q	ZNF419_ENST00000426954.2_Missense_Mutation_p.E172Q|ZNF419_ENST00000354197.4_Missense_Mutation_p.E172Q|ZNF419_ENST00000347466.6_Missense_Mutation_p.E152Q|ZNF419_ENST00000415379.2_Missense_Mutation_p.E138Q|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000424930.2_Missense_Mutation_p.E185Q|ZNF419_ENST00000442920.2_Missense_Mutation_p.E171Q			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	184					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		TCACACAGGAGAGAAGTCACA	0.478																																																	0													42.0	44.0	43.0					19																	58004475		2203	4300	6503	SO:0001583	missense	79744			AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"""Zinc fingers, C2H2-type"", ""-"""	20648	protein-coding gene	gene with protein product			"""zinc finger protein 419A"""	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.550G>C	19.37:g.58004475G>C	ENSP00000221735:p.Glu184Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E185Q	ENST00000221735.7	37	c.553	CCDS54326.1	19	.	.	.	.	.	.	.	.	.	.	G	10.09	1.253672	0.22965	.	.	ENSG00000105136	ENST00000284020;ENST00000424930;ENST00000426954;ENST00000354197;ENST00000442920;ENST00000517598;ENST00000347466;ENST00000415379;ENST00000221735;ENST00000521137	T;T;T;T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.09	2.48	2.48	0.30137	.	.	.	.	.	T	0.35799	0.0944	M	0.71206	2.165	0.09310	N	1	P;P;P;P;B;P;P	0.48694	0.475;0.475;0.7;0.475;0.003;0.641;0.914	B;B;B;B;B;B;P	0.55508	0.081;0.118;0.165;0.059;0.002;0.229;0.777	T	0.07888	-1.0749	9	0.66056	D	0.02	.	7.96	0.30066	0.0:0.0:0.7551:0.2448	.	138;138;171;172;185;152;184	E9PFX9;B4DXU7;E9PCP4;E9PET3;E9PED0;Q96HQ0-2;Q96HQ0	.;.;.;.;.;.;ZN419_HUMAN	Q	187;185;172;172;171;185;152;138;184;151	ENSP00000388864:E185Q;ENSP00000390916:E172Q;ENSP00000346136:E172Q;ENSP00000414709:E171Q;ENSP00000299860:E152Q;ENSP00000392129:E138Q;ENSP00000221735:E184Q;ENSP00000429628:E151Q	ENSP00000221735:E184Q	E	+	1	0	ZNF419	62696287	0.000000	0.05858	0.001000	0.08648	0.204000	0.24138	0.441000	0.21611	1.372000	0.46190	0.205000	0.17691	GAG	ZNF419	-	NULL		0.478	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	ZNF419	HGNC	protein_coding	OTTHUMT00000378506.1	G	NM_024691		58004475	+1	no_errors	ENST00000424930	ensembl	human	known	70_37	missense	SNP	0.001	C
