#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_ORegAnno_bin	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
ABCB4	5244	genome.wustl.edu	37	7	87083892	87083892	+	Silent	SNP	C	C	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr7:87083892C>T	ENST00000265723.4	-	5	414	c.303G>A	c.(301-303)tcG>tcA	p.S101S	ABCB4_ENST00000545634.1_Silent_p.S101S|ABCB4_ENST00000453593.1_Silent_p.S101S|ABCB4_ENST00000358400.3_Silent_p.S101S|ABCB4_ENST00000359206.3_Silent_p.S101S	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	101	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.S101S(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	GATTTAGCAGCGACAAGGAAA	0.264																																																	1	Substitution - coding silent(1)	large_intestine(1)											40.0	44.0	42.0					7																	87083892		2202	4294	6496	SO:0001819	synonymous_variant	5244			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.303G>A	7.37:g.87083892C>T			A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.S101	ENST00000265723.4	37	c.303	CCDS5606.1	7																																																																																			ABCB4	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.264	ABCB4-002	KNOWN	basic|CCDS	protein_coding	ABCB4	HGNC	protein_coding	OTTHUMT00000336083.1	C	NM_000443		87083892	-1	no_errors	ENST00000265723	ensembl	human	known	70_37	silent	SNP	0.980	T
ABCD3	5825	genome.wustl.edu	37	1	94983783	94983783	+	3'UTR	SNP	C	C	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr1:94983783C>T	ENST00000370214.4	+	0	3102				ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000394233.2_3'UTR	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3						ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|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)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		ATCAAATCATCATTAATGACT	0.323																																																	0																																										SO:0001624	3_prime_UTR_variant	5825			M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.*1098C>T	1.37:g.94983783C>T			D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	RNA	SNP	-	NULL	ENST00000370214.4	37	NULL	CCDS749.1	1																																																																																			ABCD3	-	-		0.323	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD3	HGNC	protein_coding	OTTHUMT00000029597.1	C	NM_002858		94983783	+1	no_errors	ENST00000464165	ensembl	human	known	70_37	rna	SNP	0.143	T
ACSM5	54988	genome.wustl.edu	37	16	20441034	20441034	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr16:20441034G>A	ENST00000331849.4	+	8	1183	c.1036G>A	c.(1036-1038)Gga>Aga	p.G346R		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	346					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CTGTCTGACCGGAGGAGAGGC	0.562																																																	0													95.0	96.0	95.0					16																	20441034		2203	4300	6503	SO:0001583	missense	54988				CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1036G>A	16.37:g.20441034G>A	ENSP00000327916:p.Gly346Arg		Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.G346R	ENST00000331849.4	37	c.1036	CCDS10585.1	16	.	.	.	.	.	.	.	.	.	.	G	13.33	2.204787	0.38905	.	.	ENSG00000183549	ENST00000331849	T	0.58652	0.32	4.4	4.4	0.53042	AMP-dependent synthetase/ligase (1);	0.000000	0.53938	D	0.000046	T	0.80215	0.4582	H	0.94462	3.54	0.54753	D	0.999987	D	0.60160	0.987	P	0.59643	0.861	D	0.87017	0.2126	10	0.87932	D	0	-12.6387	16.1862	0.81955	0.0:0.0:1.0:0.0	.	346	Q6NUN0	ACSM5_HUMAN	R	346	ENSP00000327916:G346R	ENSP00000327916:G346R	G	+	1	0	ACSM5	20348535	1.000000	0.71417	0.901000	0.35422	0.506000	0.33950	5.907000	0.69908	2.145000	0.66743	0.551000	0.68910	GGA	ACSM5	-	pfam_AMP-dep_Synth/Lig		0.562	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM5	HGNC	protein_coding	OTTHUMT00000254413.1	G	NM_017888		20441034	+1	no_errors	ENST00000331849	ensembl	human	known	70_37	missense	SNP	0.996	A
ADAMDEC1	27299	genome.wustl.edu	37	8	24256534	24256534	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr8:24256534G>A	ENST00000256412.4	+	9	1130	c.910G>A	c.(910-912)Gac>Aac	p.D304N	ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.D225N|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000538205.1_Missense_Mutation_p.D225N|RP11-624C23.1_ENST00000519689.1_RNA	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	304	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		AAAGATCCACGACCATGCTCA	0.517																																					Ovarian(147;687 1849 3699 25981 31337)												0													86.0	76.0	80.0					8																	24256534		2203	4300	6503	SO:0001583	missense	27299			Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.910G>A	8.37:g.24256534G>A	ENSP00000256412:p.Asp304Asn		B7ZAK5	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.D304N	ENST00000256412.4	37	c.910	CCDS6044.1	8	.	.	.	.	.	.	.	.	.	.	G	14.81	2.645313	0.47258	.	.	ENSG00000134028	ENST00000256412;ENST00000538205;ENST00000522298	T;T;T	0.72615	-0.67;-0.67;-0.67	5.88	4.79	0.61399	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.083053	0.51477	N	0.000082	T	0.81889	0.4918	M	0.83603	2.65	0.27050	N	0.963817	D	0.71674	0.998	D	0.66084	0.941	T	0.75314	-0.3361	10	0.54805	T	0.06	-36.6159	8.5633	0.33525	0.138:0.0:0.862:0.0	.	304	O15204	ADEC1_HUMAN	N	304;225;225	ENSP00000256412:D304N;ENSP00000442592:D225N;ENSP00000428993:D225N	ENSP00000256412:D304N	D	+	1	0	ADAMDEC1	24312479	1.000000	0.71417	0.765000	0.31456	0.857000	0.48899	3.149000	0.50655	1.141000	0.42275	0.655000	0.94253	GAC	ADAMDEC1	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.517	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMDEC1	HGNC	protein_coding	OTTHUMT00000215149.2	G	NM_014479		24256534	+1	no_errors	ENST00000256412	ensembl	human	known	70_37	missense	SNP	0.964	A
AIF1	199	genome.wustl.edu	37	6	31584177	31584177	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr6:31584177G>C	ENST00000376059.3	+	5	399	c.253G>C	c.(253-255)Gag>Cag	p.E85Q	AIF1_ENST00000376049.4_Missense_Mutation_p.E31Q	NM_001623.3	NP_001614.3	P55008	AIF1_HUMAN	allograft inflammatory factor 1	85	EF-hand 2; degenerate. {ECO:0000255|PROSITE-ProRule:PRU00448}.				actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cellular response to interferon-gamma (GO:0071346)|inflammatory response (GO:0006954)|microglial cell activation (GO:0001774)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell proliferation (GO:0048662)|phagocytosis, engulfment (GO:0006911)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell migration (GO:2000406)|positive regulation of T cell proliferation (GO:0042102)|Rac protein signal transduction (GO:0016601)|ruffle assembly (GO:0097178)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|phagocytic cup (GO:0001891)|ruffle membrane (GO:0032587)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			lung(2)|ovary(1)	3						GACTCACCTAGAGCTAAAGAA	0.537																																					Ovarian(23;358 734 36938 38933 52312)												0													74.0	75.0	74.0					6																	31584177		1511	2709	4220	SO:0001583	missense	199			U19713	CCDS4706.1, CCDS34398.1	6p21.3	2013-01-10			ENSG00000204472	ENSG00000204472		"""EF-hand domain containing"""	352	protein-coding gene	gene with protein product	"""interferon gamma responsive transcript"", ""ionized calcium-binding adapter molecule 1"""	601833				8912632	Standard	NM_032955		Approved	IRT-1, AIF-1, Em:AF129756.17, IBA1	uc003nuy.3	P55008	OTTHUMG00000031246	ENST00000376059.3:c.253G>C	6.37:g.31584177G>C	ENSP00000365227:p.Glu85Gln		A8K406|O43904|Q9UIV4|Q9UKS9	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.E85Q	ENST00000376059.3	37	c.253	CCDS4706.1	6	.	.	.	.	.	.	.	.	.	.	G	20.9	4.062294	0.76187	.	.	ENSG00000204472	ENST00000376059;ENST00000337917;ENST00000376049	T;T;T	0.52295	0.67;0.67;0.67	4.38	4.38	0.52667	EF-hand-like domain (1);	0.000000	0.64402	D	0.000007	T	0.65698	0.2716	M	0.85373	2.75	0.54753	D	0.999986	D;D	0.89917	0.995;1.0	D;D	0.85130	0.909;0.997	T	0.70447	-0.4869	10	0.56958	D	0.05	-22.7691	14.8218	0.70080	0.0:0.0:1.0:0.0	.	97;85	O43904;P55008	.;AIF1_HUMAN	Q	85;99;31	ENSP00000365227:E85Q;ENSP00000338776:E99Q;ENSP00000365217:E31Q	ENSP00000338776:E99Q	E	+	1	0	AIF1	31692156	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.214000	0.77958	2.441000	0.82636	0.591000	0.81541	GAG	AIF1	-	NULL		0.537	AIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIF1	HGNC	protein_coding	OTTHUMT00000076512.3	G			31584177	+1	no_errors	ENST00000376059	ensembl	human	known	70_37	missense	SNP	1.000	C
ALOX12B	242	genome.wustl.edu	37	17	7982836	7982836	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr17:7982836C>T	ENST00000319144.4	-	8	1209	c.949G>A	c.(949-951)Gac>Aac	p.D317N	AC129492.6_ENST00000399413.3_5'UTR|ALOX12B_ENST00000577351.1_5'Flank	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	317	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						ATGCGGTAGTCGGCCAGGTAA	0.682										Multiple Myeloma(8;0.094)																																							0													18.0	15.0	16.0					17																	7982836		2120	4131	6251	SO:0001583	missense	242			AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.949G>A	17.37:g.7982836C>T	ENSP00000315167:p.Asp317Asn			Missense_Mutation	SNP	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_C,prints_LipOase_mml	p.D317N	ENST00000319144.4	37	c.949	CCDS11129.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.527662	0.96446	.	.	ENSG00000179477	ENST00000319144	D	0.95518	-3.73	4.45	4.45	0.53987	Lipoxygenase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.97766	0.9267	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98753	1.0721	10	0.87932	D	0	-31.9348	16.2694	0.82607	0.0:1.0:0.0:0.0	.	317	O75342	LX12B_HUMAN	N	317	ENSP00000315167:D317N	ENSP00000315167:D317N	D	-	1	0	ALOX12B	7923561	1.000000	0.71417	0.956000	0.39512	0.927000	0.56198	5.532000	0.67154	2.227000	0.72691	0.289000	0.19496	GAC	ALOX12B	-	pfam_LipOase_C,superfamily_LipOase_C		0.682	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX12B	HGNC	protein_coding	OTTHUMT00000226984.3	C			7982836	-1	no_errors	ENST00000319144	ensembl	human	known	70_37	missense	SNP	1.000	T
ALS2CR11	151254	genome.wustl.edu	37	2	202352336	202352336	+	Silent	SNP	C	C	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr2:202352336C>T	ENST00000286195.3	-	15	1915	c.1871G>A	c.(1870-1872)tGa>tAa	p.*624*	ALS2CR11_ENST00000439140.1_Silent_p.*1821*|ALS2CR11_ENST00000482942.1_5'Flank|ALS2CR11_ENST00000439802.1_3'UTR	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	0										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						GAACATTTTTCAATATCCTCT	0.313																																																	0													76.0	76.0	76.0					2																	202352336		2203	4300	6503	SO:0001819	synonymous_variant	151254			AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.1871G>A	2.37:g.202352336C>T			C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Silent	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.*624	ENST00000286195.3	37	c.1871	CCDS2349.1	2																																																																																			ALS2CR11	-	NULL		0.313	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALS2CR11	HGNC	protein_coding	OTTHUMT00000256296.2	C	NM_152525		202352336	-1	no_errors	ENST00000286195	ensembl	human	known	70_37	silent	SNP	0.945	T
AMZ2P1	201283	genome.wustl.edu	37	17	62969586	62969586	+	RNA	SNP	G	G	C			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr17:62969586G>C	ENST00000430983.1	-	0	1063					NR_026903.1				archaelysin family metallopeptidase 2 pseudogene 1																		TGGATTCTTTGAGATGACAGC	0.383																																																	0																																												201283			AK056627		17q24.1	2012-10-16	2010-04-08		ENSG00000214174	ENSG00000214174			26491	pseudogene	pseudogene							Standard	NR_026903		Approved	FLJ32065	uc002jfb.3		OTTHUMG00000132075		17.37:g.62969586G>C				RNA	SNP	-	NULL	ENST00000430983.1	37	NULL		17																																																																																			AMZ2P1	-	-		0.383	AMZ2P1-002	KNOWN	basic	processed_transcript	AMZ2P1	HGNC	pseudogene	OTTHUMT00000255102.1	G	NM_153032		62969586	-1	no_errors	ENST00000397713	ensembl	human	known	70_37	rna	SNP	1.000	C
ANK2	287	genome.wustl.edu	37	4	114279594	114279594	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr4:114279594C>A	ENST00000357077.4	+	38	9873	c.9820C>A	c.(9820-9822)Ccc>Acc	p.P3274T	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.P3241T|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3274					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGATGATTCTCCCGATTCTTC	0.443																																																	0													102.0	99.0	100.0					4																	114279594		2203	4300	6503	SO:0001583	missense	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.9820C>A	4.37:g.114279594C>A	ENSP00000349588:p.Pro3274Thr		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.P3274T	ENST00000357077.4	37	c.9820	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	C	12.63	1.995829	0.35226	.	.	ENSG00000145362	ENST00000357077;ENST00000264366;ENST00000505342	T;T;D	0.96300	-0.37;-0.38;-3.97	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000018	D	0.97707	0.9248	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.91635	0.814;0.999	D	0.96272	0.9199	10	0.22706	T	0.39	.	20.0826	0.97783	0.0:1.0:0.0:0.0	.	3241;3274	Q01484;Q01484-4	ANK2_HUMAN;.	T	3274;3241;284	ENSP00000349588:P3274T;ENSP00000264366:P3241T;ENSP00000422498:P284T	ENSP00000264366:P3241T	P	+	1	0	ANK2	114499043	1.000000	0.71417	0.994000	0.49952	0.136000	0.21042	4.333000	0.59285	2.746000	0.94184	0.655000	0.94253	CCC	ANK2	-	NULL		0.443	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	C	NM_001148		114279594	+1	no_errors	ENST00000357077	ensembl	human	known	70_37	missense	SNP	1.000	A
AP3B2	8120	genome.wustl.edu	37	15	83349469	83349469	+	Silent	SNP	G	G	A			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr15:83349469G>A	ENST00000261722.3	-	8	1017	c.810C>T	c.(808-810)taC>taT	p.Y270Y	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Silent_p.Y238Y|AP3B2_ENST00000535359.1_Silent_p.Y270Y	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	270					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CCTCTGAGCCGTAGAAGGCTT	0.692																																																	0													20.0	22.0	21.0					15																	83349469		1877	4084	5961	SO:0001819	synonymous_variant	8120			U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.810C>T	15.37:g.83349469G>A			A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Silent	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta	p.Y270	ENST00000261722.3	37	c.810	CCDS45331.1	15																																																																																			AP3B2	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta		0.692	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B2	HGNC	protein_coding	OTTHUMT00000397463.1	G			83349469	-1	no_errors	ENST00000261722	ensembl	human	known	70_37	silent	SNP	0.891	A
APOBEC3G	60489	genome.wustl.edu	37	22	39482545	39482545	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr22:39482545G>T	ENST00000407997.3	+	6	1354	c.997G>T	c.(997-999)Gcc>Tcc	p.A333S	APOBEC3G_ENST00000452957.2_Missense_Mutation_p.A333S	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	333	Necessary for homooligomerization.				base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)|viral process (GO:0016032)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					CGAGGCTGGGGCCAAAATTTC	0.532																																																	0													91.0	102.0	98.0					22																	39482545		2203	4300	6503	SO:0001583	missense	60489			AF182420	CCDS13984.1	22q13.1-q13.2	2008-05-15			ENSG00000239713	ENSG00000239713		"""Apolipoprotein B mRNA editing enzymes"""	17357	protein-coding gene	gene with protein product		607113				11863358	Standard	NM_021822		Approved	CEM15, MDS019, dJ494G10.1, FLJ12740, bK150C2.7		Q9HC16	OTTHUMG00000151081	ENST00000407997.3:c.997G>T	22.37:g.39482545G>T	ENSP00000385057:p.Ala333Ser		B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8	Missense_Mutation	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.A333S	ENST00000407997.3	37	c.997	CCDS13984.1	22	.	.	.	.	.	.	.	.	.	.	.	13.47	2.247591	0.39697	.	.	ENSG00000239713	ENST00000452957;ENST00000407997	T;T	0.64991	-0.13;-0.13	1.51	1.51	0.23008	APOBEC-like, C-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.79269	0.4417	M	0.88512	2.96	0.09310	N	1	P	0.42010	0.768	P	0.62435	0.902	T	0.66496	-0.5909	9	0.72032	D	0.01	.	8.982	0.35970	0.0:0.0:1.0:0.0	.	333	Q9HC16	ABC3G_HUMAN	S	333	ENSP00000413376:A333S;ENSP00000385057:A333S	ENSP00000385057:A333S	A	+	1	0	APOBEC3G	37812491	0.914000	0.31030	0.009000	0.14445	0.005000	0.04900	3.133000	0.50531	1.145000	0.42336	0.454000	0.30748	GCC	APOBEC3G	-	pfam_APOBEC_C,superfamily_Cytidine_deaminase-like		0.532	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3G	HGNC	protein_coding	OTTHUMT00000321219.1	G	NM_021822		39482545	+1	no_errors	ENST00000407997	ensembl	human	known	70_37	missense	SNP	0.049	T
ATP8B5P	158381	genome.wustl.edu	37	9	35450348	35450348	+	RNA	SNP	G	G	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr9:35450348G>T	ENST00000430846.1	+	0	3198									ATPase, class I, type 8B, member 5, pseudogene																		AGATCCAAAAGATTTGAACTC	0.363																																																	0																																												158381					9p13.3	2010-09-22			ENSG00000179766	ENSG00000179766		"""ATPases / P-type"""	27245	pseudogene	pseudogene	"""flippase expressed in testis splicing form A pseudogene"""					20210903, 19657017	Standard	NR_003582		Approved	FetA	uc010mkn.2		OTTHUMG00000019862		9.37:g.35450348G>T				RNA	SNP	-	NULL	ENST00000430846.1	37	NULL		9																																																																																			ATP8B5P	-	-		0.363	ATP8B5P-002	KNOWN	basic	processed_transcript	ATP8B5P	HGNC	pseudogene	OTTHUMT00000052312.1	G	NR_003581.1		35450348	+1	no_errors	ENST00000430846	ensembl	human	known	70_37	rna	SNP	1.000	T
BAIAP2L1	55971	genome.wustl.edu	37	7	97937178	97937178	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr7:97937178G>A	ENST00000005260.8	-	10	1201	c.986C>T	c.(985-987)tCa>tTa	p.S329L	RP4-607J23.2_ENST00000608882.1_RNA|BAIAP2L1_ENST00000462558.1_5'Flank|RP4-607J23.2_ENST00000609873.1_RNA	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	329					filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			AACCGAAACTGATCGCTGTAA	0.473																																																	0													174.0	147.0	156.0					7																	97937178		2203	4300	6503	SO:0001583	missense	55971			AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.986C>T	7.37:g.97937178G>A	ENSP00000005260:p.Ser329Leu		A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Missense_Mutation	SNP	pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.S329L	ENST00000005260.8	37	c.986	CCDS34687.1	7	.	.	.	.	.	.	.	.	.	.	G	34	5.323904	0.95708	.	.	ENSG00000006453	ENST00000005260	T	0.29655	1.56	5.02	5.02	0.67125	.	0.056911	0.64402	D	0.000001	T	0.56863	0.2014	M	0.76328	2.33	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.58674	-0.7595	10	0.51188	T	0.08	-18.5485	17.702	0.88298	0.0:0.0:1.0:0.0	.	329	Q9UHR4	BI2L1_HUMAN	L	329	ENSP00000005260:S329L	ENSP00000005260:S329L	S	-	2	0	AC093799.1	97775114	1.000000	0.71417	0.871000	0.34182	0.959000	0.62525	9.131000	0.94446	2.503000	0.84419	0.557000	0.71058	TCA	BAIAP2L1	-	NULL		0.473	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAIAP2L1	HGNC	protein_coding	OTTHUMT00000334681.1	G	NM_018842		97937178	-1	no_errors	ENST00000005260	ensembl	human	known	70_37	missense	SNP	0.999	A
BDP1	55814	genome.wustl.edu	37	5	70806373	70806373	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr5:70806373G>A	ENST00000358731.4	+	17	3717	c.3454G>A	c.(3454-3456)Gaa>Aaa	p.E1152K	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1152	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TGGAAGAAGAGAAATATCCCC	0.473																																																	0													82.0	83.0	83.0					5																	70806373		1845	4081	5926	SO:0001583	missense	55814			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.3454G>A	5.37:g.70806373G>A	ENSP00000351575:p.Glu1152Lys		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.E1152K	ENST00000358731.4	37	c.3454	CCDS43328.1	5	.	.	.	.	.	.	.	.	.	.	G	13.00	2.106545	0.37145	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.05319	3.46	3.29	3.29	0.37713	.	0.770342	0.10595	U	0.656357	T	0.13970	0.0338	M	0.61703	1.905	0.50467	D	0.999871	D;D;D	0.54207	0.965;0.965;0.965	P;P;P	0.52793	0.709;0.709;0.709	T	0.08764	-1.0706	10	0.27785	T	0.31	.	10.3362	0.43852	0.0:0.0:1.0:0.0	.	1152;1152;1152	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	K	1152;732	ENSP00000351575:E1152K	ENSP00000351575:E1152K	E	+	1	0	BDP1	70842129	0.000000	0.05858	0.274000	0.24659	0.057000	0.15508	-0.018000	0.12568	2.140000	0.66376	0.205000	0.17691	GAA	BDP1	-	NULL		0.473	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	HGNC	protein_coding	OTTHUMT00000374681.2	G	NM_018429		70806373	+1	no_errors	ENST00000358731	ensembl	human	known	70_37	missense	SNP	0.368	A
CACNA2D4	93589	genome.wustl.edu	37	12	1992068	1992068	+	Missense_Mutation	SNP	C	C	T	rs376591807		TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr12:1992068C>T	ENST00000382722.5	-	13	1812	c.1450G>A	c.(1450-1452)Gac>Aac	p.D484N	CACNA2D4_ENST00000588077.1_Missense_Mutation_p.D420N|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.D484N|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.D484N|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.D369N|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.D420N	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	484					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CAGATGATGTCGTGGTCGTGG	0.592																																					Colon(2;101 179 21030 23310 28141)												0								C	ASN/ASP	0,4300		0,0,2150	81.0	87.0	85.0		1450	5.3	1.0	12		85	3,8509		0,3,4253	no	missense	CACNA2D4	NM_172364.4	23	0,3,6403	TT,TC,CC		0.0352,0.0,0.0234	probably-damaging	484/1138	1992068	3,12809	2150	4256	6406	SO:0001583	missense	93589			AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.1450G>A	12.37:g.1992068C>T	ENSP00000372169:p.Asp484Asn		Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.D484N	ENST00000382722.5	37	c.1450	CCDS44785.1	12	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691200	0.88735	0.0	3.52E-4	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.06687	3.27	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.15696	0.0378	N	0.12182	0.205	0.58432	D	0.999999	D;D	0.89917	0.986;1.0	P;D	0.87578	0.856;0.998	T	0.31251	-0.9950	10	0.38643	T	0.18	.	18.9435	0.92612	0.0:1.0:0.0:0.0	.	484;484	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	N	420;484;484	ENSP00000372169:D484N	ENSP00000280663:D484N	D	-	1	0	CACNA2D4	1862329	1.000000	0.71417	0.979000	0.43373	0.749000	0.42624	7.487000	0.81328	2.457000	0.83068	0.462000	0.41574	GAC	CACNA2D4	-	NULL		0.592	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	CACNA2D4	HGNC	protein_coding	OTTHUMT00000398230.2	C			1992068	-1	no_errors	ENST00000382722	ensembl	human	known	70_37	missense	SNP	1.000	T
CAMSAP2	23271	genome.wustl.edu	37	1	200818630	200818630	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr1:200818630G>A	ENST00000236925.4	+	12	2815	c.2766G>A	c.(2764-2766)atG>atA	p.M922I	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.M895I|CAMSAP2_ENST00000358823.2_Missense_Mutation_p.M911I			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	922					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										TAATGCAGATGAGAGAGCAAC	0.418																																																	0													125.0	133.0	130.0					1																	200818630		2203	4300	6503	SO:0001583	missense	23271			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.2766G>A	1.37:g.200818630G>A	ENSP00000236925:p.Met922Ile		B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.M922I	ENST00000236925.4	37	c.2766		1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243499	0.79912	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.14640	2.5;2.49;2.5	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.34948	0.0915	L	0.53249	1.67	0.80722	D	1	D;D;P	0.69078	0.997;0.996;0.909	D;D;P	0.77557	0.99;0.918;0.554	T	0.00408	-1.1758	10	0.35671	T	0.21	-29.2429	19.9197	0.97082	0.0:0.0:1.0:0.0	.	895;922;911	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	I	911;895;922	ENSP00000351684:M911I;ENSP00000416800:M895I;ENSP00000236925:M922I	ENSP00000236925:M922I	M	+	3	0	CAMSAP1L1	199085253	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.840000	0.99478	2.702000	0.92279	0.655000	0.94253	ATG	CAMSAP2	-	NULL		0.418	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CAMSAP2	HGNC	protein_coding	OTTHUMT00000086956.2	G	NM_203459		200818630	+1	no_errors	ENST00000236925	ensembl	human	known	70_37	missense	SNP	1.000	A
CCDC13	152206	genome.wustl.edu	37	3	42777313	42777313	+	Silent	SNP	C	C	G			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr3:42777313C>G	ENST00000310232.6	-	10	1340	c.1257G>C	c.(1255-1257)ctG>ctC	p.L419L	CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	419								p.L419L(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CCTCGCTGTTCAGTTGCTGGT	0.622																																																	1	Substitution - coding silent(1)	urinary_tract(1)											96.0	76.0	83.0					3																	42777313		2203	4300	6503	SO:0001819	synonymous_variant	152206			AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.1257G>C	3.37:g.42777313C>G				Silent	SNP	superfamily_Prefoldin	p.L419	ENST00000310232.6	37	c.1257	CCDS2705.1	3																																																																																			CCDC13	-	NULL		0.622	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC13	HGNC	protein_coding	OTTHUMT00000256652.1	C	NM_144719		42777313	-1	no_errors	ENST00000310232	ensembl	human	known	70_37	silent	SNP	0.011	G
C10orf105	414152	genome.wustl.edu	37	10	73472508	73472508	+	3'UTR	SNP	C	C	T	rs113714164		TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr10:73472508C>T	ENST00000441508.2	-	0	3786				CDH23_ENST00000224721.6_Silent_p.L1108L|C10orf105_ENST00000398786.2_3'UTR	NM_001164375.2	NP_001157847.1	Q8TEF2	CJ105_HUMAN	chromosome 10 open reading frame 105							integral component of membrane (GO:0016021)											GCCCATCTTTCTGCAGAGCAG	0.617																																																	0													50.0	55.0	53.0					10																	73472508		2087	4207	6294	SO:0001624	3_prime_UTR_variant	64072			AK074172	CCDS44430.1	10q22.1	2012-06-01			ENSG00000214688	ENSG00000214688			20304	protein-coding gene	gene with protein product							Standard	NM_001164375		Approved	FLJ00245	uc001jsa.2	Q8TEF2	OTTHUMG00000018427	ENST00000441508.2:c.*3185G>A	10.37:g.73472508C>T				Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L1106	ENST00000441508.2	37	c.3316	CCDS44430.1	10																																																																																			CDH23	-	superfamily_Cadherin-like,pfscan_Cadherin		0.617	C10orf105-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH23	HGNC	protein_coding	OTTHUMT00000048551.2	C	NM_001164375		73472508	+1	no_errors	ENST00000224721	ensembl	human	known	70_37	silent	SNP	1.000	T
CENPF	1063	genome.wustl.edu	37	1	214820477	214820477	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr1:214820477G>A	ENST00000366955.3	+	13	7732	c.7564G>A	c.(7564-7566)Gaa>Aaa	p.E2522K		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2618	2 X 177 AA tandem repeats.|Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GAAGAAGGATGAAGAAATCAG	0.403																																					Colon(80;575 1284 11000 14801 43496)												0													81.0	87.0	85.0					1																	214820477		2203	4300	6503	SO:0001583	missense	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.7564G>A	1.37:g.214820477G>A	ENSP00000355922:p.Glu2522Lys		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd	p.E2522K	ENST00000366955.3	37	c.7564	CCDS31023.1	1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.853067	0.32699	.	.	ENSG00000117724	ENST00000366955	T	0.03212	4.01	5.34	4.42	0.53409	.	0.230767	0.22375	N	0.060899	T	0.04679	0.0127	L	0.50333	1.59	0.23056	N	0.99837	B	0.24721	0.11	B	0.19148	0.024	T	0.29518	-1.0009	10	0.37606	T	0.19	.	10.2923	0.43603	0.0779:0.1446:0.7775:0.0	.	2618	P49454	CENPF_HUMAN	K	2522	ENSP00000355922:E2522K	ENSP00000355922:E2522K	E	+	1	0	CENPF	212887100	0.715000	0.27946	0.988000	0.46212	0.978000	0.69477	0.868000	0.27982	1.366000	0.46076	0.609000	0.83330	GAA	CENPF	-	NULL		0.403	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPF	HGNC	protein_coding	OTTHUMT00000089749.1	G	NM_016343		214820477	+1	no_errors	ENST00000366955	ensembl	human	known	70_37	missense	SNP	0.835	A
CNKSR2	22866	genome.wustl.edu	37	X	21444770	21444770	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chrX:21444770T>C	ENST00000379510.3	+	2	256	c.220T>C	c.(220-222)Tgt>Cgt	p.C74R	CNKSR2_ENST00000425654.2_Missense_Mutation_p.C74R|CNKSR2_ENST00000543067.1_Missense_Mutation_p.C74R|CNKSR2_ENST00000279451.4_Missense_Mutation_p.C74R	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	74	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TGACCTTCTGTGTGCATTGGT	0.448																																																	0													126.0	117.0	120.0					X																	21444770		2203	4300	6503	SO:0001583	missense	22866			AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.220T>C	X.37:g.21444770T>C	ENSP00000368824:p.Cys74Arg		B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM	p.C74R	ENST00000379510.3	37	c.220	CCDS14198.1	X	.	.	.	.	.	.	.	.	.	.	T	14.74	2.625295	0.46840	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	5.33	4.12	0.48240	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);	0.000000	0.85682	D	0.000000	T	0.40247	0.1109	L	0.37800	1.135	0.80722	D	1	D;D;B	0.67145	0.996;0.992;0.038	D;P;B	0.65987	0.94;0.887;0.038	T	0.24977	-1.0145	10	0.06365	T	0.9	-18.4975	10.7734	0.46336	0.1436:0.0:0.0:0.8564	.	74;74;74	B7ZLJ1;B4DGR4;Q8WXI2	.;.;CNKR2_HUMAN	R	74	ENSP00000397906:C74R;ENSP00000444633:C74R;ENSP00000279451:C74R;ENSP00000368824:C74R	ENSP00000279451:C74R	C	+	1	0	CNKSR2	21354691	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.901000	0.69861	1.761000	0.52028	0.481000	0.45027	TGT	CNKSR2	-	superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.448	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNKSR2	HGNC	protein_coding	OTTHUMT00000056019.1	T	NM_014927		21444770	+1	no_errors	ENST00000379510	ensembl	human	known	70_37	missense	SNP	1.000	C
CNOT8	9337	genome.wustl.edu	37	5	154242942	154242943	+	Frame_Shift_Ins	INS	-	-	TTATA			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr5:154242942_154242943insTTATA	ENST00000517876.1	+	3	580_581	c.104_105insTTATA	c.(103-108)agttatfs	p.-37fs	CNOT8_ENST00000519404.1_Frame_Shift_Ins_p.-37fs|CNOT8_ENST00000521583.1_Intron|CNOT8_ENST00000524105.1_Intron|CNOT8_ENST00000521450.1_Intron|CNOT8_ENST00000521402.1_3'UTR|CNOT8_ENST00000403027.2_Frame_Shift_Ins_p.-37fs|CNOT8_ENST00000285896.6_Frame_Shift_Ins_p.-37fs|CNOT8_ENST00000523698.1_Intron|CNOT8_ENST00000520671.1_Intron			Q9UFF9	CNOT8_HUMAN	CCR4-NOT transcription complex, subunit 8						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|negative regulation of cell proliferation (GO:0008285)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTCAGTTACAGTTATATTGCCA	0.475																																					NSCLC(140;1804 1895 27149 29895 35312)												0																																										SO:0001589	frameshift_variant	9337			AF053318	CCDS4329.1, CCDS75361.1	5q31-q33	2008-07-18			ENSG00000155508	ENSG00000155508			9207	protein-coding gene	gene with protein product	"""PGK promoter directed over production"""	603731		POP2		10036195, 10637334	Standard	XM_005268527		Approved	CAF1, hCAF1, CALIF	uc003lvw.3	Q9UFF9	OTTHUMG00000130192	ENST00000517876.1:c.105_109dupTTATA	5.37:g.154242943_154242947dupTTATA	ENSP00000430493:p.Ile37fs		B0AZS3|B2RAR8|B7Z8R1|D3DQI8|O95709|Q7Z521|Q9H6Y1	Frame_Shift_Ins	INS	pfam_RNase_CAF1,superfamily_RNaseH-like_dom	p.A38fs	ENST00000517876.1	37	c.104_105	CCDS4329.1	5																																																																																			CNOT8	-	pfam_RNase_CAF1,superfamily_RNaseH-like_dom		0.475	CNOT8-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CNOT8	HGNC	protein_coding	OTTHUMT00000377449.1	-	NM_004779		154242943	+1	no_errors	ENST00000285896	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	TTATA
CNTN4	152330	genome.wustl.edu	37	3	3084769	3084769	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr3:3084769C>T	ENST00000397461.1	+	21	3004	c.2620C>T	c.(2620-2622)Cac>Tac	p.H874Y	CNTN4_ENST00000427331.1_Missense_Mutation_p.H874Y|CNTN4_ENST00000418658.1_Missense_Mutation_p.H874Y|CNTN4_ENST00000448906.2_Missense_Mutation_p.H546Y|CNTN4_ENST00000358480.3_Missense_Mutation_p.H655Y|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000397459.2_Missense_Mutation_p.H546Y	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	874	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.H546Y(1)|p.H874Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TGTGCTGTATCACTTAGCTGT	0.418																																																	2	Substitution - Missense(2)	lung(2)											110.0	103.0	106.0					3																	3084769		2203	4300	6503	SO:0001583	missense	152330			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2620C>T	3.37:g.3084769C>T	ENSP00000380602:p.His874Tyr		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.H874Y	ENST00000397461.1	37	c.2620	CCDS43041.1	3	.	.	.	.	.	.	.	.	.	.	C	7.232	0.599616	0.13939	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43	5.03	5.03	0.67393	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.195957	0.45606	D	0.000348	T	0.30947	0.0781	N	0.03268	-0.37	0.49389	D	0.999782	B;B	0.09022	0.0;0.002	B;B	0.06405	0.002;0.002	T	0.14172	-1.0482	9	.	.	.	.	18.7333	0.91744	0.0:1.0:0.0:0.0	.	873;874	Q8IWV2-3;Q8IWV2	.;CNTN4_HUMAN	Y	874;874;874;655;546;546	ENSP00000396010:H874Y;ENSP00000380602:H874Y;ENSP00000413642:H874Y;ENSP00000351267:H655Y;ENSP00000380600:H546Y;ENSP00000392077:H546Y	.	H	+	1	0	CNTN4	3059769	0.999000	0.42202	0.799000	0.32177	0.992000	0.81027	2.899000	0.48679	2.503000	0.84419	0.655000	0.94253	CAC	CNTN4	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.418	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN4	HGNC	protein_coding	OTTHUMT00000239236.2	C			3084769	+1	no_errors	ENST00000397461	ensembl	human	known	70_37	missense	SNP	1.000	T
COL4A2	1284	genome.wustl.edu	37	13	111155758	111155758	+	Silent	SNP	G	G	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr13:111155758G>T	ENST00000360467.5	+	43	4374	c.4068G>T	c.(4066-4068)ggG>ggT	p.G1356G	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1356	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GCTTCATGGGGAACACTGGAC	0.607																																																	0													34.0	38.0	37.0					13																	111155758		1901	4117	6018	SO:0001819	synonymous_variant	1284			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.4068G>T	13.37:g.111155758G>T			Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G1356	ENST00000360467.5	37	c.4068	CCDS41907.1	13																																																																																			COL4A2	-	pfam_Collagen		0.607	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A2	HGNC	protein_coding	OTTHUMT00000045761.2	G	NM_001846		111155758	+1	no_errors	ENST00000360467	ensembl	human	known	70_37	silent	SNP	0.041	T
DAPK1	1612	genome.wustl.edu	37	9	90296363	90296363	+	Silent	SNP	G	G	A			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr9:90296363G>A	ENST00000408954.3	+	20	2381	c.2046G>A	c.(2044-2046)caG>caA	p.Q682Q	DAPK1_ENST00000472284.1_Silent_p.Q682Q|DAPK1_ENST00000491893.1_Silent_p.Q682Q|DAPK1_ENST00000358077.5_Silent_p.Q682Q|DAPK1_ENST00000469640.2_Silent_p.Q682Q	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	682					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GACCCACACAGAACCTGCAGC	0.502									Chronic Lymphocytic Leukemia, Familial Clustering of																																								0													113.0	117.0	116.0					9																	90296363		1991	4179	6170	SO:0001819	synonymous_variant	1612	Familial Cancer Database	Familial CLL	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.2046G>A	9.37:g.90296363G>A			B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt	p.Q682	ENST00000408954.3	37	c.2046	CCDS43842.1	9																																																																																			DAPK1	-	NULL		0.502	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DAPK1	HGNC	protein_coding	OTTHUMT00000356843.1	G	NM_004938		90296363	+1	no_errors	ENST00000469640	ensembl	human	known	70_37	silent	SNP	1.000	A
DCHS2	54798	genome.wustl.edu	37	4	155161743	155161743	+	Silent	SNP	G	G	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr4:155161743G>T	ENST00000357232.4	-	23	5939	c.5940C>A	c.(5938-5940)gtC>gtA	p.V1980V		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1980	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCAGCACACGGACTACAAGTG	0.408																																																	0													92.0	87.0	89.0					4																	155161743		2203	4300	6503	SO:0001819	synonymous_variant	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.5940C>A	4.37:g.155161743G>T			B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V1980	ENST00000357232.4	37	c.5940	CCDS3785.1	4																																																																																			DCHS2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.408	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	G	NM_001142552		155161743	-1	no_errors	ENST00000357232	ensembl	human	known	70_37	silent	SNP	0.681	T
DNHD1	144132	genome.wustl.edu	37	11	6566173	6566173	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr11:6566173C>T	ENST00000527990.2	+	19	4004	c.4004C>T	c.(4003-4005)tCg>tTg	p.S1335L	DNHD1_ENST00000254579.6_Missense_Mutation_p.S1335L			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	1335					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CAAGCAGGATCGGTGGAGCTG	0.567																																																	0													127.0	119.0	121.0					11																	6566173		692	1591	2283	SO:0001583	missense	144132			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.4004C>T	11.37:g.6566173C>T	ENSP00000436180:p.Ser1335Leu		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_t-SNARE	p.S1335L	ENST00000527990.2	37	c.4004	CCDS44532.1	11	.	.	.	.	.	.	.	.	.	.	C	17.05	3.290112	0.59976	.	.	ENSG00000179532	ENST00000254579;ENST00000527990	T;T	0.60548	0.18;0.18	5.68	4.69	0.59074	Dynein heavy chain, domain-2 (1);	.	.	.	.	T	0.68026	0.2956	L	0.38175	1.15	0.09310	N	1	D	0.89917	1.0	D	0.73380	0.98	T	0.60525	-0.7246	9	0.52906	T	0.07	.	16.3723	0.83368	0.1406:0.8594:0.0:0.0	.	1335	Q96M86	DNHD1_HUMAN	L	1335	ENSP00000254579:S1335L;ENSP00000436180:S1335L	ENSP00000254579:S1335L	S	+	2	0	DNHD1	6522749	0.037000	0.19845	0.927000	0.36925	0.974000	0.67602	1.675000	0.37555	2.677000	0.91161	0.563000	0.77884	TCG	DNHD1	-	pfam_Dynein_heavy_dom-2		0.567	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	HGNC	protein_coding	OTTHUMT00000384673.2	C	NM_144666		6566173	+1	no_errors	ENST00000254579	ensembl	human	known	70_37	missense	SNP	0.026	T
DSP	1832	genome.wustl.edu	37	6	7566637	7566637	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr6:7566637G>C	ENST00000379802.3	+	8	1308	c.967G>C	c.(967-969)Gaa>Caa	p.E323Q	DSP_ENST00000418664.2_Missense_Mutation_p.E323Q	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	323	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GGAAGTTAAAGAAAAAGAGCT	0.378																																																	0													119.0	115.0	116.0					6																	7566637		2203	4300	6503	SO:0001583	missense	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.967G>C	6.37:g.7566637G>C	ENSP00000369129:p.Glu323Gln		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.E323Q	ENST00000379802.3	37	c.967	CCDS4501.1	6	.	.	.	.	.	.	.	.	.	.	G	32	5.105229	0.94245	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	D;D	0.89123	-2.47;-2.47	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000005	D	0.91905	0.7437	L	0.49256	1.55	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76575	0.988;0.988	D	0.90705	0.4623	10	0.44086	T	0.13	.	19.5444	0.95285	0.0:0.0:1.0:0.0	.	370;323	Q4LE79;P15924	.;DESP_HUMAN	Q	323;323;128	ENSP00000369129:E323Q;ENSP00000396591:E323Q	ENSP00000369129:E323Q	E	+	1	0	DSP	7511636	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.992000	0.93519	2.683000	0.91414	0.655000	0.94253	GAA	DSP	-	smart_Spectrin/alpha-actinin		0.378	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	HGNC	protein_coding	OTTHUMT00000039786.2	G	NM_004415		7566637	+1	no_errors	ENST00000379802	ensembl	human	known	70_37	missense	SNP	1.000	C
EMX2	2018	genome.wustl.edu	37	10	119302808	119302808	+	Silent	SNP	C	C	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr10:119302808C>T	ENST00000553456.3	+	1	854	c.30C>T	c.(28-30)ttC>ttT	p.F10F	EMX2OS_ENST00000440007.1_RNA|EMX2OS_ENST00000450314.2_RNA|EMX2OS_ENST00000551288.1_RNA|EMX2_ENST00000442245.4_Silent_p.F10F	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	10					anterior/posterior pattern specification (GO:0009952)|cell proliferation in forebrain (GO:0021846)|cerebral cortex regionalization (GO:0021796)|dentate gyrus development (GO:0021542)|forebrain cell migration (GO:0021885)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|response to drug (GO:0042493)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		AGCGCTGCTTCACCATCGAGT	0.736																																																	0													8.0	6.0	6.0					10																	119302808		2002	3962	5964	SO:0001819	synonymous_variant	2018			AF301598	CCDS7601.1, CCDS53583.1	10q26.11	2011-06-20	2007-02-15		ENSG00000170370	ENSG00000170370		"""Homeoboxes / ANTP class : NKL subclass"""	3341	protein-coding gene	gene with protein product		600035	"""empty spiracles homolog 2 (Drosophila)"""			7959790	Standard	NM_004098		Approved		uc001ldh.4	Q04743	OTTHUMG00000019123	ENST00000553456.3:c.30C>T	10.37:g.119302808C>T			G3V305|Q96NN8|Q9BQF4	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_HTH_motif	p.F10	ENST00000553456.3	37	c.30	CCDS7601.1	10																																																																																			EMX2	-	NULL		0.736	EMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMX2	HGNC	protein_coding	OTTHUMT00000050569.4	C	NM_004098		119302808	+1	no_errors	ENST00000369201	ensembl	human	known	70_37	silent	SNP	1.000	T
MT-CO3	4514	genome.wustl.edu	37	M	7538	7538	+	5'Flank	SNP	T	T	C			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chrM:7538T>C	ENST00000362079.2	+	0	0				MT-ATP8_ENST00000361851.1_5'Flank|MT-TA_ENST00000387392.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-CO2_ENST00000361739.1_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TR_ENST00000387439.1_RNA			P00414	COX3_HUMAN	mitochondrially encoded cytochrome c oxidase III						aerobic electron transport chain (GO:0019646)|cellular metabolic process (GO:0044237)|respiratory chain complex IV assembly (GO:0008535)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)			breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						GAAAAACCATTTCATAACTTT	0.388																																																	0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198938	ENSG00000198938		"""Mitochondrial respiratory chain complex / Complex IV"""	7422	protein-coding gene	gene with protein product		516050	"""cytochrome c oxidase III"""	MTCO3			Standard			Approved	COX3, COIII, CO3		P00414			M.37:g.7538T>C	Exception_encountered		Q14Y83	RNA	SNP	-	NULL	ENST00000362079.2	37	NULL		MT																																																																																			J01415.13	-	-		0.388	MT-CO3-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000210154	Clone_based_ensembl_gene	protein_coding		T	YP_003024032		7538	+1	no_errors	ENST00000387419	ensembl	human	novel	70_37	rna	SNP	NULL	C
MT-ND5	4540	genome.wustl.edu	37	M	12164	12164	+	5'Flank	SNP	G	G	A			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chrM:12164G>A	ENST00000361567.2	+	0	0				MT-TH_ENST00000387441.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TR_ENST00000387439.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5						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)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						CCAAAACATCAGATTGTGAAT	0.443																																																	0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915			M.37:g.12164G>A	Exception_encountered		Q34773|Q8WCY3	RNA	SNP	-	NULL	ENST00000361567.2	37	NULL		MT																																																																																			J01415.17	-	-		0.443	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000210176	Clone_based_ensembl_gene	protein_coding		G	YP_003024036		12164	+1	no_errors	ENST00000387441	ensembl	human	novel	70_37	rna	SNP	NULL	A
SPATA5	166378	genome.wustl.edu	37	4	123928797	123928797	+	Intron	DEL	A	A	-	rs368657021		TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr4:123928797delA	ENST00000274008.4	+	11	1938				AC109357.1_ENST00000401335.1_RNA|SPATA5_ENST00000422835.2_Intron	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						acacacacacaacacacacac	0.378																																																	0																																										SO:0001627	intron_variant	0			AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.1870-20544A>-	4.37:g.123928797delA			C9JT97|Q86XW1|Q8NI20|Q8TDL7	RNA	DEL	-	NULL	ENST00000274008.4	37	NULL	CCDS3730.1	4																																																																																			AC109357.1	-	-		0.378	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000216154	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000256714.2	A	NM_145207		123928797	-1	no_errors	ENST00000401335	ensembl	human	novel	70_37	rna	DEL	0.003	-
XXbac-BPG154L12.4	0	genome.wustl.edu	37	6	32231726	32231727	+	RNA	INS	-	-	T	rs558617602|rs534644400|rs9281702	byFrequency	TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr6:32231726_32231727insT	ENST00000425033.1	+	0	1569_1570																											ttctttctttCTtttttttttt	0.307													|||unknown(HR)	1163	0.232228	0.2141	0.1225	5008	,	,		16538	0.2917		0.2286	False		,,,				2504	0.2771																0																																												0																															6.37:g.32231737_32231737dupT				RNA	INS	-	NULL	ENST00000425033.1	37	NULL		6																																																																																			XXbac-BPG154L12.4	-	-		0.307	XXbac-BPG154L12.4-001	KNOWN	basic|exp_conf	antisense	ENSG00000225914	Clone_based_vega_gene	antisense	OTTHUMT00000316882.1	-			32231727	+1	no_errors	ENST00000425033	ensembl	human	known	70_37	rna	INS	0.372:0.374	T
MAPK13	5603	genome.wustl.edu	37	6	36108355	36108355	+	IGR	SNP	G	G	C			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr6:36108355G>C	ENST00000211287.4	+	0	2052				Z95152.1_ENST00000408816.1_RNA	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13						cell cycle (GO:0007049)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 production (GO:0032755)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						atgtgcatttgaatgaggacc	0.488																																																	0																																										SO:0001628	intergenic_variant	0			Y10488	CCDS4818.1	6p21	2011-06-09			ENSG00000156711	ENSG00000156711	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6875	protein-coding gene	gene with protein product		602899		PRKM13		9295308, 9218798	Standard	NM_002754		Approved	SAPK4, p38delta	uc003ols.4	O15264	OTTHUMG00000014587		6.37:g.36108355G>C			O14739|O15124|Q5U4A5|Q6FI46|Q9UNU0	RNA	SNP	-	NULL	ENST00000211287.4	37	NULL	CCDS4818.1	6																																																																																			Z95152.1	-	-		0.488	MAPK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000221743	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000040328.1	G			36108355	-1	no_errors	ENST00000408816	ensembl	human	novel	70_37	rna	SNP	0.080	C
IWS1	55677	genome.wustl.edu	37	2	128247262	128247262	+	Intron	DEL	A	A	-			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr2:128247262delA	ENST00000295321.4	-	11	2419				AC010976.2_ENST00000598065.1_RNA|AC010976.2_ENST00000595561.1_RNA|AC010976.2_ENST00000454503.2_RNA|AC010976.2_ENST00000596439.1_RNA|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)						mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CATTTAAACTAAAAGGATATT	0.393																																																	0																																										SO:0001627	intron_variant	0			AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.2159+145T>-	2.37:g.128247262delA			Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	RNA	DEL	-	NULL	ENST00000295321.4	37	NULL	CCDS2146.1	2																																																																																			AC010976.2	-	-		0.393	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000231731	Clone_based_vega_gene	protein_coding	OTTHUMT00000254384.2	A	NM_017969		128247262	+1	no_errors	ENST00000454503	ensembl	human	known	70_37	rna	DEL	0.000	-
GOLGA8EP	390535	genome.wustl.edu	37	15	23443813	23443813	+	RNA	SNP	C	C	T	rs201240063		TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr15:23443813C>T	ENST00000526079.1	+	0	1650				AC100757.1_ENST00000458911.1_RNA|RN7SL106P_ENST00000488468.2_RNA	NR_027407.1|NR_033350.1				golgin A8 family, member E, pseudogene																		aactcccacaccgaccagtag	0.537																																																	0																																												0					15q11.2	2014-03-21	2012-10-05	2012-10-05	ENSG00000175676	ENSG00000175676			32377	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8E"", ""golgin A8 family, member E"""	GOLGA8E		12477932	Standard	NR_033350		Approved		uc001yvu.3		OTTHUMG00000167132		15.37:g.23443813C>T				RNA	SNP	-	NULL	ENST00000526079.1	37	NULL		15																																																																																			Metazoa_SRP	-	-		0.537	GOLGA8EP-002	KNOWN	basic	processed_transcript	ENSG00000242962	RFAM	pseudogene	OTTHUMT00000393312.1	C	NR_033350.1		23443813	+1	no_errors	ENST00000488468	ensembl	human	novel	70_37	rna	SNP	0.009	T
TMPRSS11BNL	401136	genome.wustl.edu	37	4	69083668	69083668	+	5'UTR	SNP	A	A	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr4:69083668A>T	ENST00000432593.3	-	0	130				RP11-646E20.6_ENST00000510782.1_RNA					TMPRSS11B N-terminal like, pseudogene											autonomic_ganglia(1)	1						GTAAATAAATATAAAGAAAAG	0.353																																																	0													170.0	150.0	156.0					4																	69083668		692	1591	2283	SO:0001623	5_prime_UTR_variant	0					4q13.2	2014-05-09	2014-05-08		ENSG00000226894	ENSG00000250026			37262	pseudogene	pseudogene			"""TMPRSS11B N terminal-like"", ""TMPRSS11B N-terminal like"""				Standard	NR_104048		Approved	FLJ41562	uc003hdv.1		OTTHUMG00000160802	ENST00000432593.3:c.-37T>A	4.37:g.69083668A>T				RNA	SNP	-	NULL	ENST00000432593.3	37	NULL	CCDS47066.1	4																																																																																			RP11-453E17.3	-	-		0.353	TMPRSS11BNL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000250026	Clone_based_vega_gene	protein_coding		A	NM_001129907		69083668	-1	no_errors	ENST00000504453	ensembl	human	known	70_37	rna	SNP	0.005	T
RSL1D1	26156	genome.wustl.edu	37	16	11945509	11945509	+	5'Flank	SNP	C	C	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr16:11945509C>T	ENST00000571133.1	-	0	0				RP11-166B2.8_ENST00000574364.1_RNA|RSL1D1_ENST00000542106.1_5'Flank	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1						osteoblast differentiation (GO:0001649)|regulation of apoptotic process (GO:0042981)|regulation of cellular senescence (GO:2000772)|regulation of protein localization (GO:0032880)	membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						CGTGGGGTTTCGCTCTCCGGG	0.642																																																	0																																										SO:0001631	upstream_gene_variant	0			AY154473	CCDS10551.1	16p13.13	2011-08-12			ENSG00000171490	ENSG00000171490			24534	protein-coding gene	gene with protein product		615874				15334068, 9859858	Standard	NM_015659		Approved	PBK1, L12, DKFZP564M182, CSIG, UTP30	uc002dbp.1	O76021	OTTHUMG00000129824		16.37:g.11945509C>T	Exception_encountered		B4DJ58|D3DUG7|Q2M1T7|Q6PL22|Q8IWS7|Q8WUZ1|Q9HDA9|Q9Y3Z9	RNA	SNP	-	NULL	ENST00000571133.1	37	NULL	CCDS10551.1	16																																																																																			RP11-166B2.8	-	-		0.642	RSL1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000263307	Clone_based_vega_gene	protein_coding	OTTHUMT00000252059.2	C	NM_015659		11945509	+1	no_errors	ENST00000574364	ensembl	human	known	70_37	rna	SNP	0.000	T
ESPNP	284729	genome.wustl.edu	37	1	17023009	17023009	+	RNA	SNP	G	G	A			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr1:17023009G>A	ENST00000492551.1	-	0	1854					NR_026567.1				espin pseudogene																		GGCTTGGGACGGCCCTGCTCA	0.667																																																	0																																												284729			AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17023009G>A				RNA	SNP	-	NULL	ENST00000492551.1	37	NULL		1																																																																																			ESPNP	-	-		0.667	ESPNP-002	KNOWN	basic	processed_transcript	ESPNP	HGNC	pseudogene	OTTHUMT00000326311.1	G			17023009	-1	no_errors	ENST00000492551	ensembl	human	known	70_37	rna	SNP	1.000	A
EXOC3L2	90332	genome.wustl.edu	37	19	45728159	45728159	+	Silent	SNP	C	C	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr19:45728159C>T	ENST00000252482.3	-	5	444	c.417G>A	c.(415-417)gaG>gaA	p.E139E	EXOC3L2_ENST00000413988.1_Silent_p.E139E			Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	139					exocytosis (GO:0006887)	exocyst (GO:0000145)				endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		GGGCCAGGCGCTCGGCCAGAG	0.642																																																	0													16.0	17.0	17.0					19																	45728159		2203	4295	6498	SO:0001819	synonymous_variant	90332			AK093466	CCDS12657.1	19q13.32	2011-07-07			ENSG00000130201	ENSG00000130201			30162	protein-coding gene	gene with protein product						21566143	Standard	NM_138568		Approved	FLJ36147, XTP7	uc002pay.1	Q2M3D2	OTTHUMG00000155018	ENST00000252482.3:c.417G>A	19.37:g.45728159C>T			Q8N9W2|Q96GV2	Silent	SNP	pfam_Sec6,superfamily_Tet_transcr_reg_TetR-rel_C	p.E139	ENST00000252482.3	37	c.417	CCDS12657.1	19																																																																																			EXOC3L2	-	pfam_Sec6		0.642	EXOC3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC3L2	HGNC	protein_coding	OTTHUMT00000338073.1	C	NM_138568		45728159	-1	no_errors	ENST00000252482	ensembl	human	known	70_37	silent	SNP	0.999	T
FAM13B	51306	genome.wustl.edu	37	5	137323274	137323274	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr5:137323274C>A	ENST00000033079.3	-	9	1373	c.922G>T	c.(922-924)Gaa>Taa	p.E308*	FAM13B_ENST00000420893.2_Nonsense_Mutation_p.E308*|FAM13B_ENST00000425075.2_Nonsense_Mutation_p.E190*	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	308					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						AGGTGCTGTTCCACAGCTGCT	0.358																																																	0													115.0	101.0	106.0					5																	137323274		2203	4300	6503	SO:0001587	stop_gained	51306			AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"""Rho GTPase activating proteins"""	1335	protein-coding gene	gene with protein product		609371	"""chromosome 5 open reading frame 5"", ""family with sequence similarity 13, member B1"""	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.922G>T	5.37:g.137323274C>A	ENSP00000033079:p.Glu308*		D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E308*	ENST00000033079.3	37	c.922	CCDS4195.1	5	.	.	.	.	.	.	.	.	.	.	C	41	9.023840	0.99040	.	.	ENSG00000031003	ENST00000033079;ENST00000425075;ENST00000420893	.	.	.	5.38	5.38	0.77491	.	0.060605	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-12.09	17.668	0.88208	0.0:1.0:0.0:0.0	.	.	.	.	X	308;190;308	.	ENSP00000033079:E308X	E	-	1	0	FAM13B	137351173	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.749000	0.62155	2.674000	0.91012	0.650000	0.86243	GAA	FAM13B	-	NULL		0.358	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM13B	HGNC	protein_coding	OTTHUMT00000251279.1	C			137323274	-1	no_errors	ENST00000033079	ensembl	human	known	70_37	nonsense	SNP	1.000	A
FAM35A	54537	genome.wustl.edu	37	10	88911700	88911700	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr10:88911700G>C	ENST00000298784.1	+	3	703	c.589G>C	c.(589-591)Gag>Cag	p.E197Q	FAM35A_ENST00000298786.4_Missense_Mutation_p.E197Q|RN7SL733P_ENST00000582253.1_RNA	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	197										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						GGTACAAAGAGAGTGTGTGCC	0.383																																					Ovarian(175;703 2004 25460 32514 43441)												0													19.0	21.0	20.0					10																	88911700		2011	4013	6024	SO:0001583	missense	54537			BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.589G>C	10.37:g.88911700G>C	ENSP00000298784:p.Glu197Gln		O95885|Q9H991	Missense_Mutation	SNP	NULL	p.E197Q	ENST00000298784.1	37	c.589	CCDS7383.1	10	.	.	.	.	.	.	.	.	.	.	g	6.040	0.375758	0.11409	.	.	ENSG00000122376	ENST00000298786;ENST00000298784;ENST00000358313	T;T;T	0.23147	1.92;1.92;1.92	4.01	-3.2	0.05156	.	0.938068	0.08771	N	0.896269	T	0.14917	0.0360	L	0.36672	1.1	0.09310	N	1	B	0.29508	0.246	B	0.19391	0.025	T	0.26087	-1.0113	10	0.25751	T	0.34	0.273	6.4765	0.22039	0.2539:0.1828:0.5633:0.0	.	197	Q86V20	FA35A_HUMAN	Q	197	ENSP00000298786:E197Q;ENSP00000298784:E197Q;ENSP00000351064:E197Q	ENSP00000298784:E197Q	E	+	1	0	FAM35A	88901680	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.508000	0.06344	-0.466000	0.06943	-0.497000	0.04613	GAG	FAM35A	-	NULL		0.383	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM35A	HGNC	protein_coding	OTTHUMT00000049196.2	G	NM_019054		88911700	+1	no_errors	ENST00000298786	ensembl	human	known	70_37	missense	SNP	0.000	C
FAT4	79633	genome.wustl.edu	37	4	126372317	126372317	+	Silent	SNP	A	A	G			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr4:126372317A>G	ENST00000394329.3	+	9	10159	c.10146A>G	c.(10144-10146)agA>agG	p.R3382R	FAT4_ENST00000335110.5_Silent_p.R1680R	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3382	Cadherin 32. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCAGCATTAGAGGTGCAGATA	0.403																																																	0													169.0	163.0	165.0					4																	126372317		2203	4300	6503	SO:0001819	synonymous_variant	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.10146A>G	4.37:g.126372317A>G			A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.R3382	ENST00000394329.3	37	c.10146	CCDS3732.3	4																																																																																			FAT4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.403	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	A	NM_024582		126372317	+1	no_errors	ENST00000394329	ensembl	human	known	70_37	silent	SNP	0.038	G
FBLN7	129804	genome.wustl.edu	37	2	112933425	112933425	+	Intron	SNP	C	C	G			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr2:112933425C>G	ENST00000331203.2	+	4	803				FBLN7_ENST00000409667.3_Intron|FBLN7_ENST00000409450.3_Intron|FBLN7_ENST00000472377.1_3'UTR|FBLN7_ENST00000409903.1_Intron	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7						cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TGGTATGTAGCCACCATGGGG	0.552																																																	0													106.0	90.0	95.0					2																	112933425		2203	4300	6503	SO:0001627	intron_variant	129804				CCDS2095.1, CCDS46391.1	2q13	2010-06-15			ENSG00000144152	ENSG00000144152		"""Fibulins"""	26740	protein-coding gene	gene with protein product		611551				17699513	Standard	NM_153214		Approved	FLJ37440, TM14	uc002tho.1	Q53RD9	OTTHUMG00000153267	ENST00000331203.2:c.532+9C>G	2.37:g.112933425C>G			A0JNV1|A0JNV2|Q5H9P5|Q8N9G0	RNA	SNP	-	NULL	ENST00000331203.2	37	NULL	CCDS2095.1	2																																																																																			FBLN7	-	-		0.552	FBLN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBLN7	HGNC	protein_coding	OTTHUMT00000330505.1	C	NM_153214		112933425	+1	no_errors	ENST00000472377	ensembl	human	known	70_37	rna	SNP	0.002	G
FGFRL1	53834	genome.wustl.edu	37	4	1018825	1018827	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr4:1018825_1018827delAGA	ENST00000398484.2	+	8	1785_1787	c.1205_1207delAGA	c.(1204-1209)cagaag>cag	p.K404del	FGFRL1_ENST00000264748.6_In_Frame_Del_p.K404del|FGFRL1_ENST00000510644.1_In_Frame_Del_p.K404del|RP11-460I19.2_ENST00000503095.1_lincRNA|FGFRL1_ENST00000504138.1_In_Frame_Del_p.K404del			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	404					diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TGCCAGGCCCAGAAGAAGCCGTG	0.724																																																	0																																										SO:0001651	inframe_deletion	53834				CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"""Immunoglobulin superfamily / I-set domain containing"""	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1205_1207delAGA	4.37:g.1018828_1018830delAGA	ENSP00000381498:p.Lys404del		B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	In_Frame_Del	DEL	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.K404in_frame_del	ENST00000398484.2	37	c.1205_1207	CCDS3344.1	4																																																																																			FGFRL1	-	NULL		0.724	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGFRL1	HGNC	protein_coding	OTTHUMT00000239195.2	AGA	NM_021923		1018827	+1	no_errors	ENST00000264748	ensembl	human	known	70_37	in_frame_del	DEL	1.000:1.000:1.000	-
FYCO1	79443	genome.wustl.edu	37	3	46009302	46009302	+	Silent	SNP	G	G	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr3:46009302G>T	ENST00000296137.2	-	8	1729	c.1524C>A	c.(1522-1524)gtC>gtA	p.V508V	FYCO1_ENST00000535325.1_Silent_p.V508V	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	508					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TCAGAGACCTGACCTCCTGCT	0.592																																																	0													93.0	98.0	96.0					3																	46009302		2203	4300	6503	SO:0001819	synonymous_variant	79443			AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.1524C>A	3.37:g.46009302G>T			B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Silent	SNP	pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel	p.V508	ENST00000296137.2	37	c.1524	CCDS2734.1	3																																																																																			FYCO1	-	superfamily_Prefoldin		0.592	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FYCO1	HGNC	protein_coding	OTTHUMT00000257320.2	G	NM_024513		46009302	-1	no_errors	ENST00000535325	ensembl	human	known	70_37	silent	SNP	0.036	T
GALNT1	2589	genome.wustl.edu	37	18	33257664	33257664	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr18:33257664C>T	ENST00000269195.5	+	3	527	c.424C>T	c.(424-426)Cgc>Tgc	p.R142C	GALNT1_ENST00000537549.1_Missense_Mutation_p.R82C	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	142	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						TGTCATTAATCGCTCACCAAG	0.373																																																	0													139.0	127.0	131.0					18																	33257664		2203	4300	6503	SO:0001583	missense	2589				CCDS11915.1	18q12.1	2014-03-13	2014-03-13		ENSG00000141429	ENSG00000141429	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4123	protein-coding gene	gene with protein product	"""protein-UDP acetylgalactosaminyltransferase 1"", ""polypeptide GalNAc transferase 1"""	602273	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)"""			7592619, 12199709	Standard	NM_020474		Approved	GalNAc-T1	uc002kzb.3	Q10472	OTTHUMG00000132567	ENST00000269195.5:c.424C>T	18.37:g.33257664C>T	ENSP00000269195:p.Arg142Cys		Q86TJ7|Q9UM86	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.R142C	ENST00000269195.5	37	c.424	CCDS11915.1	18	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328777	0.81690	.	.	ENSG00000141429	ENST00000537748;ENST00000269195;ENST00000537549	T;T	0.59224	0.28;0.28	5.61	5.61	0.85477	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	D	0.83959	0.5367	H	0.95884	3.735	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88839	0.3311	10	0.87932	D	0	.	17.1289	0.86722	0.0:1.0:0.0:0.0	.	142	Q10472	GALT1_HUMAN	C	142;142;82	ENSP00000269195:R142C;ENSP00000440910:R82C	ENSP00000269195:R142C	R	+	1	0	GALNT1	31511662	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.143000	0.50608	2.625000	0.88918	0.591000	0.81541	CGC	GALNT1	-	pfam_Glyco_trans_2		0.373	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT1	HGNC	protein_coding	OTTHUMT00000255771.2	C	NM_020474		33257664	+1	no_errors	ENST00000269195	ensembl	human	known	70_37	missense	SNP	1.000	T
GFM1	85476	genome.wustl.edu	37	3	158399891	158399891	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr3:158399891C>T	ENST00000486715.1	+	14	2066	c.1709C>T	c.(1708-1710)tCa>tTa	p.S570L	GFM1_ENST00000478576.1_Missense_Mutation_p.S570L|GFM1_ENST00000264263.5_Missense_Mutation_p.S589L	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TTGGAATTTTCAGATGAAACA	0.358																																																	0													57.0	57.0	57.0					3																	158399891		2203	4300	6503	SO:0001583	missense	85476			AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"""G translation elongation factor, mitochondrial"""			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.1709C>T	3.37:g.158399891C>T	ENSP00000419038:p.Ser570Leu			Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EFG/EF2,tigrfam_Small_GTP-bd_dom	p.S570L	ENST00000486715.1	37	c.1709	CCDS33885.1	3	.	.	.	.	.	.	.	.	.	.	C	11.95	1.792970	0.31685	.	.	ENSG00000168827	ENST00000486715;ENST00000478576;ENST00000264263	T;T;T	0.28895	1.59;1.59;1.59	6.03	4.02	0.46733	Ribosomal protein S5 domain 2-type fold (1);Translation elongation factor EFG/EF2, domain IV (2);Ribosomal protein S5 domain 2-type fold, subgroup (1);	1.277100	0.05135	N	0.493207	T	0.22975	0.0555	L	0.28014	0.82	0.20489	N	0.999892	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.10450	0.003;0.005;0.005	T	0.18023	-1.0350	10	0.48119	T	0.1	-1.7325	3.9977	0.09566	0.3308:0.4585:0.0:0.2108	.	589;570;570	Q96RP9-2;Q96RP9;C9IZ01	.;EFGM_HUMAN;.	L	570;570;589	ENSP00000419038:S570L;ENSP00000418755:S570L;ENSP00000264263:S589L	ENSP00000264263:S589L	S	+	2	0	GFM1	159882585	0.683000	0.27633	0.146000	0.22360	0.917000	0.54804	1.760000	0.38430	1.558000	0.49541	0.655000	0.94253	TCA	GFM1	-	pfam_Transl_elong_EFG/EF2_IV,superfamily_Ribosomal_S5_D2-typ_fold,smart_Transl_elong_EFG/EF2_IV,tigrfam_Transl_elong_EFG/EF2		0.358	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFM1	HGNC	protein_coding	OTTHUMT00000352271.1	C	NM_024996		158399891	+1	no_errors	ENST00000486715	ensembl	human	known	70_37	missense	SNP	0.090	T
GP1BA	2811	genome.wustl.edu	37	17	4837790	4837790	+	Silent	SNP	C	C	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr17:4837790C>T	ENST00000329125.5	+	2	1966	c.1891C>T	c.(1891-1893)Ctg>Ttg	p.L631L		NM_000173.5	NP_000164.5	P07359	GP1BA_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	631					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|fibrinolysis (GO:0042730)|platelet activation (GO:0030168)|regulation of blood coagulation (GO:0030193)|thrombin receptor signaling pathway (GO:0070493)	anchored component of external side of plasma membrane (GO:0031362)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						GCCCTCAGCTCTGAGTCAGGG	0.607											OREG0024109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													39.0	43.0	41.0					17																	4837790		1978	4155	6133	SO:0001819	synonymous_variant	2811				CCDS54068.1	17p13.2	2014-09-17			ENSG00000185245	ENSG00000185245		"""CD molecules"""	4439	protein-coding gene	gene with protein product		606672		GP1B		3353370	Standard	NM_000173		Approved	CD42b	uc021tnz.1	P07359	OTTHUMG00000177946	ENST00000329125.5:c.1891C>T	17.37:g.4837790C>T		621	E7ES66|Q14441|Q16469|Q8N1F3|Q8NG39|Q9HDC7|Q9UEK1|Q9UQS4	Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L631	ENST00000329125.5	37	c.1891	CCDS54068.1	17																																																																																			GP1BA	-	NULL		0.607	GP1BA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GP1BA	HGNC	protein_coding	OTTHUMT00000439889.1	C			4837790	+1	no_errors	ENST00000329125	ensembl	human	known	70_37	silent	SNP	0.984	T
GPR112	139378	genome.wustl.edu	37	X	135431359	135431359	+	Missense_Mutation	SNP	T	T	A			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chrX:135431359T>A	ENST00000394143.1	+	6	5785	c.5494T>A	c.(5494-5496)Tct>Act	p.S1832T	GPR112_ENST00000370652.1_Missense_Mutation_p.S1832T|GPR112_ENST00000394141.1_Missense_Mutation_p.S1627T|GPR112_ENST00000287534.4_Missense_Mutation_p.S1769T|GPR112_ENST00000412101.1_Missense_Mutation_p.S1627T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1832					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AACTCTACCCTCTTTGACATC	0.433																																																	0													142.0	124.0	130.0					X																	135431359		2203	4300	6503	SO:0001583	missense	139378			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.5494T>A	X.37:g.135431359T>A	ENSP00000377699:p.Ser1832Thr		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.S1832T	ENST00000394143.1	37	c.5494	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	t	13.08	2.131251	0.37630	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.33654	1.43;1.43;1.4;1.53;1.4	3.37	0.98	0.19750	.	.	.	.	.	T	0.34279	0.0892	L	0.27053	0.805	0.09310	N	1	D;D;P	0.64830	0.994;0.994;0.9	P;P;B	0.60609	0.877;0.828;0.211	T	0.16689	-1.0394	9	0.23302	T	0.38	.	4.2805	0.10831	0.0:0.325:0.0:0.675	.	1769;1627;1832	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	T	1832;1832;1627;1769;1627	ENSP00000377699:S1832T;ENSP00000359686:S1832T;ENSP00000416526:S1627T;ENSP00000287534:S1769T;ENSP00000377697:S1627T	ENSP00000287534:S1769T	S	+	1	0	GPR112	135259025	0.015000	0.18098	0.006000	0.13384	0.002000	0.02628	0.812000	0.27211	0.344000	0.23847	-0.460000	0.05396	TCT	GPR112	-	NULL		0.433	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	T			135431359	+1	no_errors	ENST00000370652	ensembl	human	known	70_37	missense	SNP	0.009	A
GPR124	25960	genome.wustl.edu	37	8	37691313	37691313	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr8:37691313G>C	ENST00000412232.2	+	10	1417	c.1404G>C	c.(1402-1404)caG>caC	p.Q468H	GPR124_ENST00000315215.7_Missense_Mutation_p.Q468H	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	468					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			ATGTGGCTCAGATGATCCAGA	0.522																																																	0													104.0	105.0	105.0					8																	37691313		2203	4300	6503	SO:0001583	missense	25960			AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.1404G>C	8.37:g.37691313G>C	ENSP00000406367:p.Gln468His		A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like	p.Q468H	ENST00000412232.2	37	c.1404	CCDS6097.2	8	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751453	0.69533	.	.	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	T;T	0.43294	0.95;0.95	4.51	4.51	0.55191	.	0.150447	0.44902	D	0.000417	T	0.50188	0.1601	L	0.41236	1.265	0.51233	D	0.999912	B;D	0.71674	0.34;0.998	B;D	0.64237	0.257;0.923	T	0.44877	-0.9299	10	0.39692	T	0.17	-11.6224	11.7895	0.52061	0.0858:0.0:0.9142:0.0	.	468;468	Q96PE1-2;Q96PE1	.;GP124_HUMAN	H	461;468;468	ENSP00000323508:Q468H;ENSP00000406367:Q468H	ENSP00000323508:Q468H	Q	+	3	2	GPR124	37810471	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.514000	0.35834	2.064000	0.61679	0.561000	0.74099	CAG	GPR124	-	NULL		0.522	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR124	HGNC	protein_coding	OTTHUMT00000343331.2	G			37691313	+1	no_errors	ENST00000412232	ensembl	human	known	70_37	missense	SNP	1.000	C
GPR132	29933	genome.wustl.edu	37	14	105517706	105517706	+	Silent	SNP	G	G	C	rs548478287		TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr14:105517706G>C	ENST00000329797.3	-	4	1679	c.768C>G	c.(766-768)gcC>gcG	p.A256A	GPR132_ENST00000392585.2_Silent_p.A247A|GPR132_ENST00000539291.2_Silent_p.A256A|GPR132_ENST00000546679.1_5'Flank	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	256					G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		GGTGGTACGGGGCGAAGCAGA	0.577																																																	0													113.0	112.0	112.0					14																	105517706		2203	4300	6503	SO:0001819	synonymous_variant	29933			AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484		"""GPCR / Class A : Orphans"""	17482	protein-coding gene	gene with protein product	"""G2 accumulation"""	606167				12086852	Standard	NM_013345		Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000329797.3:c.768C>G	14.37:g.105517706G>C			A8K7X7|B4E144|Q9BSU2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_G2A_lysphc_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor	p.A256	ENST00000329797.3	37	c.768	CCDS9997.1	14																																																																																			GPR132	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor		0.577	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR132	HGNC	protein_coding	OTTHUMT00000409278.1	G	NM_013345		105517706	-1	no_errors	ENST00000329797	ensembl	human	known	70_37	silent	SNP	0.001	C
GPR32	2854	genome.wustl.edu	37	19	51274851	51274851	+	Missense_Mutation	SNP	A	A	C	rs201404376		TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr19:51274851A>C	ENST00000270590.4	+	1	1131	c.994A>C	c.(994-996)Act>Cct	p.T332P		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	332					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCAGTCTTTGACTTCTGCCCT	0.552																																					Esophageal Squamous(113;152 1581 5732 15840 44398)												0													66.0	71.0	69.0					19																	51274851		2203	4298	6501	SO:0001583	missense	2854			AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.994A>C	19.37:g.51274851A>C	ENSP00000270590:p.Thr332Pro		Q502U7|Q6NWS5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Frt_met_rcpt	p.T332P	ENST00000270590.4	37	c.994	CCDS12801.1	19	.	.	.	.	.	.	.	.	.	.	a	0.006	-2.066505	0.00382	.	.	ENSG00000142511	ENST00000270590	T	0.36699	1.24	2.71	-0.781	0.10965	.	.	.	.	.	T	0.12518	0.0304	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31138	-0.9954	9	0.02654	T	1	.	3.6506	0.08202	0.205:0.5623:0.0:0.2327	.	332	O75388	GPR32_HUMAN	P	332	ENSP00000270590:T332P	ENSP00000270590:T332P	T	+	1	0	GPR32	55966663	0.000000	0.05858	0.025000	0.17156	0.653000	0.38743	0.089000	0.15002	-0.262000	0.09392	-0.755000	0.03482	ACT	GPR32	-	prints_Frt_met_rcpt		0.552	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR32	HGNC	protein_coding	OTTHUMT00000465016.1	A			51274851	+1	no_errors	ENST00000270590	ensembl	human	known	70_37	missense	SNP	0.018	C
GRIPAP1	56850	genome.wustl.edu	37	X	48839723	48839723	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chrX:48839723G>A	ENST00000376441.1	-	16	1436	c.1402C>T	c.(1402-1404)Cgc>Tgc	p.R468C	GRIPAP1_ENST00000376425.3_Missense_Mutation_p.R437C|GRIPAP1_ENST00000376423.4_Missense_Mutation_p.R415C|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.R423C	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	468						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						CGCTCATAGCGGGCACGCACC	0.587																																																	0													116.0	82.0	93.0					X																	48839723		2203	4300	6503	SO:0001583	missense	56850			AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.1402C>T	X.37:g.48839723G>A	ENSP00000365624:p.Arg468Cys		A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Missense_Mutation	SNP	superfamily_Prefoldin	p.R468C	ENST00000376441.1	37	c.1402	CCDS35248.1	X	.	.	.	.	.	.	.	.	.	.	-	14.18	2.459083	0.43634	.	.	ENSG00000068400	ENST00000376425;ENST00000376444;ENST00000376441;ENST00000537291;ENST00000376423	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	4.26	4.26	0.50523	.	0.165039	0.39834	N	0.001245	T	0.31420	0.0796	N	0.24115	0.695	0.41843	D	0.990138	D;D;D	0.89917	0.999;1.0;0.999	P;D;P	0.63113	0.905;0.911;0.862	T	0.10314	-1.0635	10	0.66056	D	0.02	0.0104	10.3419	0.43884	0.0:0.0:0.8032:0.1968	.	415;358;468	Q4V328-2;Q4V328-3;Q4V328	.;.;GRAP1_HUMAN	C	437;423;468;437;415	ENSP00000365608:R437C;ENSP00000365627:R423C;ENSP00000365624:R468C;ENSP00000365606:R415C	ENSP00000365606:R415C	R	-	1	0	GRIPAP1	48724667	1.000000	0.71417	0.182000	0.23118	0.079000	0.17450	4.238000	0.58688	1.742000	0.51746	0.471000	0.43371	CGC	GRIPAP1	-	NULL		0.587	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIPAP1	HGNC	protein_coding	OTTHUMT00000080970.2	G	NM_207672		48839723	-1	no_errors	ENST00000376441	ensembl	human	known	70_37	missense	SNP	0.997	A
GZMM	3004	genome.wustl.edu	37	19	549708	549708	+	Missense_Mutation	SNP	A	A	C			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr19:549708A>C	ENST00000264553.3	+	5	729	c.691A>C	c.(691-693)Act>Cct	p.T231P		NM_001258351.1|NM_005317.3	NP_001245280.1|NP_005308	P51124	GRAM_HUMAN	granzyme M (lymphocyte met-ase 1)	231	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|membrane (GO:0016020)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|large_intestine(1)|prostate(1)	3		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|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)		CAGGGTCTGCACTGACATCTT	0.662																																																	0													100.0	80.0	87.0					19																	549708		2203	4300	6503	SO:0001583	missense	3004				CCDS12031.1, CCDS74240.1	19p13.3	2008-07-16				ENSG00000197540			4712	protein-coding gene	gene with protein product	"""lymphocyte met-ase 1"""	600311				8119738	Standard	NM_005317		Approved	MET1, LMET1	uc002low.2	P51124		ENST00000264553.3:c.691A>C	19.37:g.549708A>C	ENSP00000264553:p.Thr231Pro			Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.T231P	ENST00000264553.3	37	c.691	CCDS12031.1	19	.	.	.	.	.	.	.	.	.	.	a	11.63	1.694534	0.30052	.	.	ENSG00000197540	ENST00000264553	D	0.92805	-3.11	3.71	0.103	0.14526	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.576142	0.13108	U	0.413168	D	0.84070	0.5391	N	0.20445	0.575	0.09310	N	1	P	0.35139	0.486	B	0.41946	0.371	T	0.74731	-0.3566	10	0.40728	T	0.16	.	2.2353	0.04006	0.5168:0.0:0.2611:0.2221	.	231	P51124	GRAM_HUMAN	P	231	ENSP00000264553:T231P	ENSP00000264553:T231P	T	+	1	0	GZMM	500708	0.000000	0.05858	0.048000	0.18961	0.005000	0.04900	-0.325000	0.07976	0.432000	0.26286	-0.430000	0.05897	ACT	GZMM	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.662	GZMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GZMM	HGNC	protein_coding	OTTHUMT00000451895.2	A	NM_005317		549708	+1	no_errors	ENST00000264553	ensembl	human	known	70_37	missense	SNP	0.001	C
HIST1H3C	8352	genome.wustl.edu	37	6	26045675	26045675	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr6:26045675G>T	ENST00000540144.1	+	1	37	c.37G>T	c.(37-39)Ggc>Tgc	p.G13C	HIST1H2BB_ENST00000357905.2_5'Flank	NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	13					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						CAAGTCTACCGGCGGCAAAGC	0.552																																																	0													43.0	47.0	46.0					6																	26045675		2202	4296	6498	SO:0001583	missense	8352			X57128	CCDS4576.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196532	ENSG00000278272		"""Histones / Replication-dependent"""	4768	protein-coding gene	gene with protein product		602812	"""H3 histone family, member C"", ""histone 1, H3c"""	H3FC		8227173, 9119399, 12408966	Standard	NM_003531		Approved	H3/c, H3.1	uc003nfv.3	P68431	OTTHUMG00000014416	ENST00000540144.1:c.37G>T	6.37:g.26045675G>T	ENSP00000439493:p.Gly13Cys		A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.G13C	ENST00000540144.1	37	c.37	CCDS4576.1	6	.	.	.	.	.	.	.	.	.	.	G	13.55	2.269595	0.40095	.	.	ENSG00000196532	ENST00000540144	T	0.50277	0.75	4.52	4.52	0.55395	.	.	.	.	.	T	0.59004	0.2162	.	.	.	0.49051	D	0.999749	.	.	.	.	.	.	T	0.64676	-0.6351	6	0.72032	D	0.01	.	17.1066	0.86665	0.0:0.0:1.0:0.0	.	.	.	.	C	13	ENSP00000439493:G13C	ENSP00000439493:G13C	G	+	1	0	HIST1H3C	26153654	1.000000	0.71417	0.998000	0.56505	0.198000	0.23893	9.694000	0.98686	2.448000	0.82819	0.591000	0.81541	GGC	HIST1H3C	-	superfamily_Histone-fold,prints_Histone_H3		0.552	HIST1H3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3C	HGNC	protein_coding	OTTHUMT00000040078.1	G	NM_003531		26045675	+1	no_errors	ENST00000540144	ensembl	human	known	70_37	missense	SNP	1.000	T
HIVEP2	3097	genome.wustl.edu	37	6	143081676	143081676	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr6:143081676C>G	ENST00000367604.1	-	8	6388	c.5749G>C	c.(5749-5751)Gat>Cat	p.D1917H	HIVEP2_ENST00000012134.2_Missense_Mutation_p.D1917H|HIVEP2_ENST00000367603.2_Missense_Mutation_p.D1917H			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1917	Asp/Glu-rich (acidic).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		tcatcttcatcttcatcatca	0.438																																					Esophageal Squamous(107;843 1510 13293 16805 42198)												0													52.0	56.0	54.0					6																	143081676		2083	4207	6290	SO:0001583	missense	3097			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.5749G>C	6.37:g.143081676C>G	ENSP00000356576:p.Asp1917His		Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D1917H	ENST00000367604.1	37	c.5749	CCDS43510.1	6	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408715	0.83340	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.03413	3.94;3.94;3.94	6.16	6.16	0.99307	.	0.148442	0.64402	D	0.000018	T	0.08403	0.0209	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.22871	-1.0204	10	0.87932	D	0	-24.2397	20.4702	0.99162	0.0:1.0:0.0:0.0	.	1917	P31629	ZEP2_HUMAN	H	1917	ENSP00000356576:D1917H;ENSP00000356575:D1917H;ENSP00000012134:D1917H	ENSP00000012134:D1917H	D	-	1	0	HIVEP2	143123369	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.294000	0.78760	2.937000	0.99478	0.650000	0.86243	GAT	HIVEP2	-	NULL		0.438	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	HGNC	protein_coding	OTTHUMT00000042495.1	C			143081676	-1	no_errors	ENST00000012134	ensembl	human	known	70_37	missense	SNP	1.000	G
HIVEP2	3097	genome.wustl.edu	37	6	143081724	143081724	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr6:143081724C>T	ENST00000367604.1	-	8	6340	c.5701G>A	c.(5701-5703)Gag>Aag	p.E1901K	HIVEP2_ENST00000012134.2_Missense_Mutation_p.E1901K|HIVEP2_ENST00000367603.2_Missense_Mutation_p.E1901K			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1901	Asp/Glu-rich (acidic).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		tcTGATTCCTCAGCATCGGAG	0.388																																					Esophageal Squamous(107;843 1510 13293 16805 42198)												0													49.0	50.0	50.0					6																	143081724		2052	4204	6256	SO:0001583	missense	3097			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.5701G>A	6.37:g.143081724C>T	ENSP00000356576:p.Glu1901Lys		Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E1901K	ENST00000367604.1	37	c.5701	CCDS43510.1	6	.	.	.	.	.	.	.	.	.	.	C	25.4	4.630340	0.87660	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.03152	4.03;4.03;4.03	6.16	6.16	0.99307	.	0.189680	0.56097	D	0.000034	T	0.07188	0.0182	L	0.32530	0.975	0.80722	D	1	D	0.67145	0.996	P	0.60609	0.877	T	0.29150	-1.0021	10	0.87932	D	0	-29.5103	20.8598	0.99761	0.0:1.0:0.0:0.0	.	1901	P31629	ZEP2_HUMAN	K	1901	ENSP00000356576:E1901K;ENSP00000356575:E1901K;ENSP00000012134:E1901K	ENSP00000012134:E1901K	E	-	1	0	HIVEP2	143123417	1.000000	0.71417	0.986000	0.45419	0.471000	0.32888	7.294000	0.78760	2.937000	0.99478	0.650000	0.86243	GAG	HIVEP2	-	NULL		0.388	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	HGNC	protein_coding	OTTHUMT00000042495.1	C			143081724	-1	no_errors	ENST00000012134	ensembl	human	known	70_37	missense	SNP	1.000	T
IGSF3	3321	genome.wustl.edu	37	1	117122285	117122286	+	In_Frame_Ins	INS	-	-	TCC	rs576658823|rs367941869|rs151042895|rs114915440	byFrequency	TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr1:117122285_117122286insTCC	ENST00000369486.3	-	10	3827_3828	c.3062_3063insGGA	c.(3061-3063)gac>gaGGAc	p.1020_1021insE	IGSF3_ENST00000369483.1_In_Frame_Ins_p.1040_1041insE|IGSF3_ENST00000318837.6_In_Frame_Ins_p.1040_1041insE	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	1020	Ig-like C2-type 8.		D -> E (in dbSNP:rs647711). {ECO:0000269|PubMed:9790749}.		lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.D1041D(1)|p.D1021D(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		cgtcgtcgtcgtcgtcctcctc	0.634														1230	0.245607	0.1528	0.3069	5008	,	,		17681	0.1022		0.4284	False		,,,				2504	0.2873																2	Substitution - coding silent(2)	prostate(2)																																								SO:0001652	inframe_insertion	3321			AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.3062_3063insGGA	1.37:g.117122285_117122286insTCC	ENSP00000358498:p.Asp1020_Asp1021insGlu		A6NJZ6|A6NMC7	In_Frame_Ins	INS	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.1041in_frame_insE	ENST00000369486.3	37	c.3123_3122	CCDS30813.1	1																																																																																			IGSF3	-	smart_Ig_sub,pfscan_Ig-like		0.634	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF3	HGNC	protein_coding	OTTHUMT00000059040.1	-	NM_001542		117122286	-1	no_errors	ENST00000318837	ensembl	human	known	70_37	in_frame_ins	INS	0.040:0.030	TCC
INCENP	3619	genome.wustl.edu	37	11	61914275	61914275	+	Missense_Mutation	SNP	G	G	A	rs553981745	byFrequency	TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr11:61914275G>A	ENST00000394818.3	+	15	2307	c.2105G>A	c.(2104-2106)cGg>cAg	p.R702Q	INCENP_ENST00000278849.4_Missense_Mutation_p.R698Q	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	702					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						gagcaggagcggcgcgagcag	0.751													-|||	2	0.000399361	0.0	0.0	5008	,	,		10270	0.0		0.0	False		,,,				2504	0.002																0													3.0	5.0	4.0					11																	61914275		1802	3558	5360	SO:0001583	missense	3619			AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"""inner centromere protein antigens (135kD, 155kD)"""			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.2105G>A	11.37:g.61914275G>A	ENSP00000378295:p.Arg702Gln		A8MQD2|Q5Y192	Missense_Mutation	SNP	pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd	p.R702Q	ENST00000394818.3	37	c.2105	CCDS44624.1	11	.	.	.	.	.	.	.	.	.	.	G	10.64	1.406045	0.25378	.	.	ENSG00000149503	ENST00000394818;ENST00000278849	T;T	0.14022	2.54;2.54	2.16	-3.22	0.05125	.	0.380247	0.18791	U	0.131070	T	0.04724	0.0128	N	0.14661	0.345	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.04013	0.0;0.001;0.0	T	0.28004	-1.0057	10	0.28530	T	0.3	.	0.1512	0.00093	0.2581:0.239:0.2649:0.238	.	698;698;702	B3KPD3;Q9NQS7-2;Q9NQS7	.;.;INCE_HUMAN	Q	702;698	ENSP00000378295:R702Q;ENSP00000278849:R698Q	ENSP00000278849:R698Q	R	+	2	0	INCENP	61670851	0.906000	0.30813	0.002000	0.10522	0.333000	0.28666	0.415000	0.21181	-0.548000	0.06199	0.289000	0.19496	CGG	INCENP	-	NULL		0.751	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INCENP	HGNC	protein_coding	OTTHUMT00000394723.2	G	NM_020238		61914275	+1	no_errors	ENST00000394818	ensembl	human	known	70_37	missense	SNP	0.002	A
INCENP	3619	genome.wustl.edu	37	11	61914294	61914294	+	Silent	SNP	G	G	C	rs374721937	byFrequency	TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr11:61914294G>C	ENST00000394818.3	+	15	2326	c.2124G>C	c.(2122-2124)cgG>cgC	p.R708R	INCENP_ENST00000278849.4_Silent_p.R704R	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	708					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						aggagcggcgggagcaggagc	0.756													G|||	10	0.00199681	0.0061	0.0029	5008	,	,		11587	0.0		0.0	False		,,,				2504	0.0																0													3.0	5.0	5.0					11																	61914294		1897	3823	5720	SO:0001819	synonymous_variant	3619			AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"""inner centromere protein antigens (135kD, 155kD)"""			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.2124G>C	11.37:g.61914294G>C			A8MQD2|Q5Y192	Silent	SNP	pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd	p.R708	ENST00000394818.3	37	c.2124	CCDS44624.1	11																																																																																			INCENP	-	NULL		0.756	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INCENP	HGNC	protein_coding	OTTHUMT00000394723.2	G	NM_020238		61914294	+1	no_errors	ENST00000394818	ensembl	human	known	70_37	silent	SNP	0.000	C
JAKMIP1	152789	genome.wustl.edu	37	4	6037659	6037659	+	Missense_Mutation	SNP	C	C	T	rs557871910		TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr4:6037659C>T	ENST00000409021.3	-	19	2800	c.2351G>A	c.(2350-2352)cGc>cAc	p.R784H	JAKMIP1_ENST00000409371.3_Missense_Mutation_p.R599H	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	152					cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAGCTCCATGCGCTCCCGCAG	0.672													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17395	0.0		0.0	False		,,,				2504	0.0																0													9.0	13.0	11.0					4																	6037659		1999	3857	5856	SO:0001583	missense	152789			AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000409021.3:c.2351G>A	4.37:g.6037659C>T	ENSP00000386711:p.Arg784His		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	NULL	p.R784H	ENST00000409021.3	37	c.2351	CCDS47005.1	4	.	.	.	.	.	.	.	.	.	.	C	32	5.177430	0.94846	.	.	ENSG00000152969	ENST00000409021;ENST00000409371;ENST00000425341	T;T	0.39997	1.49;1.05	4.86	4.86	0.63082	.	0.000000	0.51477	U	0.000082	T	0.64832	0.2634	.	.	.	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.994;0.997	T	0.65639	-0.6119	9	0.40728	T	0.16	.	16.9886	0.86347	0.0:1.0:0.0:0.0	.	599;784	Q96N16-5;Q96N16-2	.;.	H	784;599;522	ENSP00000386711:R784H;ENSP00000387042:R599H	ENSP00000386711:R784H	R	-	2	0	JAKMIP1	6088560	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.319000	0.79040	2.254000	0.74563	0.491000	0.48974	CGC	JAKMIP1	-	NULL		0.672	JAKMIP1-003	KNOWN	basic|CCDS	protein_coding	JAKMIP1	HGNC	protein_coding	OTTHUMT00000329747.1	C	NM_144720		6037659	-1	no_errors	ENST00000409021	ensembl	human	known	70_37	missense	SNP	1.000	T
KCNH8	131096	genome.wustl.edu	37	3	19295170	19295170	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr3:19295170C>T	ENST00000328405.2	+	2	367	c.101C>T	c.(100-102)gCc>gTc	p.A34V		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	34	PAS.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CTTGCCAATGCCCAGGTGGCT	0.428																																					NSCLC(124;1625 1765 8018 24930 42026)												0													167.0	168.0	168.0					3																	19295170		2203	4300	6503	SO:0001583	missense	131096			AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.101C>T	3.37:g.19295170C>T	ENSP00000328813:p.Ala34Val		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS	p.A34V	ENST00000328405.2	37	c.101	CCDS2632.1	3	.	.	.	.	.	.	.	.	.	.	C	35	5.561769	0.96527	.	.	ENSG00000183960	ENST00000328405	D	0.99136	-5.47	5.58	5.58	0.84498	.	0.000000	0.31392	U	0.007734	D	0.99492	0.9819	M	0.92604	3.325	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.984;0.998	D	0.98530	1.0627	9	.	.	.	.	19.5716	0.95423	0.0:1.0:0.0:0.0	.	34;34	B7Z398;Q96L42	.;KCNH8_HUMAN	V	34	ENSP00000328813:A34V	.	A	+	2	0	KCNH8	19270174	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.737000	0.84957	2.611000	0.88343	0.655000	0.94253	GCC	KCNH8	-	NULL		0.428	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH8	HGNC	protein_coding	OTTHUMT00000252139.2	C	NM_144633		19295170	+1	no_errors	ENST00000328405	ensembl	human	known	70_37	missense	SNP	1.000	T
KALRN	8997	genome.wustl.edu	37	3	124132404	124132404	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr3:124132404C>T	ENST00000240874.3	+	14	2585	c.2428C>T	c.(2428-2430)Cgg>Tgg	p.R810W	KALRN_ENST00000360013.3_Missense_Mutation_p.R810W|KALRN_ENST00000460856.1_Missense_Mutation_p.R810W	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	810					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGCAGAACAGCGGCTGCAGCG	0.542																																																	0													124.0	93.0	104.0					3																	124132404		2203	4300	6503	SO:0001583	missense	8997			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.2428C>T	3.37:g.124132404C>T	ENSP00000240874:p.Arg810Trp		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.R810W	ENST00000240874.3	37	c.2428	CCDS3027.1	3	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034730	0.75617	.	.	ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013	T;T;T	0.41758	0.99;0.99;0.99	5.65	3.75	0.43078	.	0.000000	0.85682	D	0.000000	T	0.58836	0.2150	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.991;0.917;0.993;0.996	T	0.60136	-0.7322	10	0.45353	T	0.12	.	13.8089	0.63250	0.3954:0.6046:0.0:0.0	.	810;156;810;810	C9IZQ6;F2Z3Q6;O60229;O60229-2	.;.;KALRN_HUMAN;.	W	810	ENSP00000418611:R810W;ENSP00000240874:R810W;ENSP00000353109:R810W	ENSP00000240874:R810W	R	+	1	2	KALRN	125615094	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.677000	0.25262	1.575000	0.49775	0.655000	0.94253	CGG	KALRN	-	NULL		0.542	KALRN-005	KNOWN	basic|CCDS	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000258843.4	C	NM_003947		124132404	+1	no_errors	ENST00000360013	ensembl	human	known	70_37	missense	SNP	1.000	T
KCNJ4	3761	genome.wustl.edu	37	22	38823295	38823295	+	Silent	SNP	C	C	T	rs367619896		TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr22:38823295C>T	ENST00000303592.3	-	2	1101	c.843G>A	c.(841-843)tcG>tcA	p.S281S	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	281					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					CAAAGTCCTCCGACTCCAGCT	0.627																																																	0								C	,	0,4406		0,0,2203	76.0	62.0	67.0		843,843	-9.9	0.8	22		67	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	KCNJ4	NM_004981.1,NM_152868.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	281/446,281/446	38823295	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3761			U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.843G>A	22.37:g.38823295C>T			Q14D44	Silent	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.3	p.S281	ENST00000303592.3	37	c.843	CCDS13971.1	22																																																																																			KCNJ4	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.3		0.627	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ4	HGNC	protein_coding	OTTHUMT00000321447.1	C	NM_004981		38823295	-1	no_errors	ENST00000303592	ensembl	human	known	70_37	silent	SNP	0.312	T
KRAS	3845	genome.wustl.edu	37	12	25378562	25378562	+	Missense_Mutation	SNP	C	C	T	rs121913527		TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr12:25378562C>T	ENST00000256078.4	-	4	499	c.436G>A	c.(436-438)Gca>Aca	p.A146T	AC087239.1_ENST00000594112.1_5'Flank|KRAS_ENST00000311936.3_Missense_Mutation_p.A146T|KRAS_ENST00000557334.1_Intron	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	146			A -> T (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.A146T(75)|p.A146P(7)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTTGTCTTTGCTGATGTTTCA	0.323	A146T(AMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|A146T(LS1034_LARGE_INTESTINE)|A146T(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	82	Substitution - Missense(82)	large_intestine(69)|haematopoietic_and_lymphoid_tissue(11)|lung(2)											207.0	188.0	195.0					12																	25378562		2203	4300	6503	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.436G>A	12.37:g.25378562C>T	ENSP00000256078:p.Ala146Thr		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.A146T	ENST00000256078.4	37	c.436	CCDS8703.1	12	.	.	.	.	.	.	.	.	.	.	C	33	5.234460	0.95207	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.88741	-2.42;-2.42	5.52	5.52	0.82312	Small GTP-binding protein domain (1);	0.045975	0.85682	D	0.000000	D	0.96639	0.8903	H	0.97131	3.945	0.80722	D	1	D;D	0.89917	1.0;0.963	D;P	0.76071	0.987;0.876	D	0.97524	1.0075	10	0.72032	D	0.01	.	18.7849	0.91951	0.0:1.0:0.0:0.0	.	146;146	P01116-2;P01116	.;RASK_HUMAN	T	146	ENSP00000308495:A146T;ENSP00000256078:A146T	ENSP00000256078:A146T	A	-	1	0	KRAS	25269829	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.762000	0.85270	2.757000	0.94681	0.585000	0.79938	GCA	KRAS	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.323	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KRAS	HGNC	protein_coding	OTTHUMT00000412232.1	C	NM_033360		25378562	-1	no_errors	ENST00000256078	ensembl	human	known	70_37	missense	SNP	1.000	T
KRTAP2-1	81872	genome.wustl.edu	37	17	39203143	39203143	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr17:39203143G>A	ENST00000391419.3	-	1	425	c.377C>T	c.(376-378)tCc>tTc	p.S126F	KRTAP2-1_ENST00000542137.1_Intron	NM_001123387.1	NP_001116859.1	Q9BYU5	KRA21_HUMAN	keratin associated protein 2-1	126						keratin filament (GO:0045095)											TCAGCAGGAGGAGGTCCTGCA	0.701																																																	0													2.0	3.0	3.0					17																	39203143		1219	3013	4232	SO:0001583	missense	81872			AJ296345	CCDS42325.1	17q21.2	2013-06-25			ENSG00000212725	ENSG00000212725		"""Keratin associated proteins"""	16775	protein-coding gene	gene with protein product						11279113	Standard	NM_001123387		Approved	KAP2.1A	uc010cxi.3	Q9BYU5	OTTHUMG00000171405	ENST00000391419.3:c.377C>T	17.37:g.39203143G>A	ENSP00000375238:p.Ser126Phe			Missense_Mutation	SNP	pfam_Keratin-assoc	p.S126F	ENST00000391419.3	37	c.377	CCDS42325.1	17	.	.	.	.	.	.	.	.	.	.	N	8.743	0.919372	0.17982	.	.	ENSG00000212725	ENST00000391419	.	.	.	4.49	-0.0046	0.14021	.	2.611370	0.02812	N	0.124418	T	0.44850	0.1313	L	0.61218	1.895	0.09310	N	0.999999	B	0.16603	0.018	B	0.16722	0.016	T	0.16958	-1.0385	9	0.49607	T	0.09	.	3.5384	0.07802	0.1707:0.1314:0.5633:0.1346	.	126	Q9BYU5	KRA21_HUMAN	F	126	.	ENSP00000375238:S126F	S	-	2	0	KRTAP2-1	36456669	0.758000	0.28405	0.000000	0.03702	0.027000	0.11550	0.037000	0.13840	-0.533000	0.06323	-2.459000	0.00205	TCC	KRTAP2-1	-	NULL		0.701	KRTAP2-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP2-1	HGNC	protein_coding	OTTHUMT00000257693.1	G			39203143	-1	no_errors	ENST00000391419	ensembl	human	known	70_37	missense	SNP	0.030	A
LANCL2	55915	genome.wustl.edu	37	7	55499004	55499004	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr7:55499004G>C	ENST00000254770.2	+	9	1922	c.1344G>C	c.(1342-1344)aaG>aaC	p.K448N		NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	448					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of abscisic acid-activated signaling pathway (GO:0009789)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|GTP binding (GO:0005525)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			ACTCTTCGAAGAGGGATTAAA	0.443																																																	0													70.0	67.0	68.0					7																	55499004		2203	4300	6503	SO:0001583	missense	55915			AJ278245	CCDS5517.1	7q31.1-q31.33	2008-07-18	2001-12-04		ENSG00000132434	ENSG00000132434			6509	protein-coding gene	gene with protein product	"""testis-specific adriamycin sensitivity protein"", ""G protein-coupled receptor 69B"""	612919	"""LanC (bacterial lantibiotic synthetase component C)-like 2"""	GPR69B		11762191	Standard	NM_018697		Approved	TASP	uc003tqp.3	Q9NS86	OTTHUMG00000023779	ENST00000254770.2:c.1344G>C	7.37:g.55499004G>C	ENSP00000254770:p.Lys448Asn		B2R8D4|Q6NSL4|Q8TCQ3|Q9BSR1	Missense_Mutation	SNP	pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk,prints_LANC-like	p.K448N	ENST00000254770.2	37	c.1344	CCDS5517.1	7	.	.	.	.	.	.	.	.	.	.	G	14.95	2.689302	0.48097	.	.	ENSG00000132434	ENST00000254770	T	0.32272	1.46	5.79	4.91	0.64330	.	0.276314	0.27659	N	0.018382	T	0.18299	0.0439	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.11329	0.006	T	0.19160	-1.0314	10	0.56958	D	0.05	.	13.545	0.61697	0.0753:0.0:0.9247:0.0	.	448	Q9NS86	LANC2_HUMAN	N	448	ENSP00000254770:K448N	ENSP00000254770:K448N	K	+	3	2	LANCL2	55466498	0.047000	0.20315	0.740000	0.30986	0.980000	0.70556	0.799000	0.27028	1.451000	0.47736	0.563000	0.77884	AAG	LANCL2	-	NULL		0.443	LANCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LANCL2	HGNC	protein_coding	OTTHUMT00000251459.1	G	NM_018697		55499004	+1	no_errors	ENST00000254770	ensembl	human	known	70_37	missense	SNP	0.285	C
LARP1B	55132	genome.wustl.edu	37	4	129012266	129012266	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr4:129012266C>T	ENST00000326639.6	+	6	680	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W	LARP1B_ENST00000264584.5_Missense_Mutation_p.R110W|LARP1B_ENST00000441387.1_Missense_Mutation_p.R157W|LARP1B_ENST00000394288.3_Missense_Mutation_p.R157W|LARP1B_ENST00000427266.1_Missense_Mutation_p.R157W|LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000432347.2_Missense_Mutation_p.R157W|LARP1B_ENST00000512292.1_Missense_Mutation_p.R157W	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	157	Arg-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						AGGCCGAGGACGGGGAAGAGG	0.413																																																	0													130.0	140.0	136.0					4																	129012266		2203	4300	6503	SO:0001583	missense	55132				CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"""La ribonucleoprotein domain containing"""	24704	protein-coding gene	gene with protein product			"""La ribonucleoprotein domain family, member 2"""	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.469C>T	4.37:g.129012266C>T	ENSP00000321997:p.Arg157Trp		Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Missense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd	p.R157W	ENST00000326639.6	37	c.469	CCDS3738.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.94|17.94	3.512244|3.512244	0.64522|0.64522	.|.	.|.	ENSG00000138709|ENSG00000138709	ENST00000326639;ENST00000512292;ENST00000508819;ENST00000394288;ENST00000432347;ENST00000264584;ENST00000441387;ENST00000427266|ENST00000507377	T;T;T;T;T;T;T;T|.	0.56103|.	1.63;1.13;1.17;0.51;0.48;1.63;1.59;1.15|.	3.69|3.69	2.84|2.84	0.33178|0.33178	.|.	0.076695|.	0.52532|.	D|.	0.000061|.	T|T	0.58004|0.58004	0.2092|0.2092	M|M	0.64404|0.64404	1.975|1.975	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.79784|.	0.993;0.973;0.973;0.984|.	T|T	0.54397|0.54397	-0.8300|-0.8300	10|5	0.66056|.	D|.	0.02|.	.|.	4.8923|4.8923	0.13733|0.13733	0.2749:0.6119:0.0:0.1132|0.2749:0.6119:0.0:0.1132	.|.	157;157;157;157|.	Q659C4;G3XAJ5;Q659C4-3;G3V0E9|.	LAR1B_HUMAN;.;.;.|.	W|M	157;157;110;157;157;110;157;157|125	ENSP00000321997:R157W;ENSP00000422850:R157W;ENSP00000427281:R110W;ENSP00000377829:R157W;ENSP00000390395:R157W;ENSP00000264584:R110W;ENSP00000396521:R157W;ENSP00000403586:R157W|.	ENSP00000264584:R110W|.	R|T	+|+	1|2	2|0	LARP1B|LARP1B	129231716|129231716	0.994000|0.994000	0.37717|0.37717	1.000000|1.000000	0.80357|0.80357	0.959000|0.959000	0.62525|0.62525	0.830000|0.830000	0.27462|0.27462	0.891000|0.891000	0.36235|0.36235	0.491000|0.491000	0.48974|0.48974	CGG|ACG	LARP1B	-	NULL		0.413	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LARP1B	HGNC	protein_coding	OTTHUMT00000257173.2	C	NM_018078		129012266	+1	no_errors	ENST00000326639	ensembl	human	known	70_37	missense	SNP	0.987	T
LIPE-AS1	100996307	genome.wustl.edu	37	19	42989362	42989362	+	RNA	SNP	C	C	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr19:42989362C>T	ENST00000594688.1	+	0	1450				LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000596116.1_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000597203.1_RNA	NR_073179.1				LIPE antisense RNA 1																		ATTTCCACATCGGCAGTCAAA	0.393																																																	0																																												100996307			AK096849, BM974950		19q13.2	2013-05-21			ENSG00000213904	ENSG00000213904		"""Long non-coding RNAs"""	48589	non-coding RNA	RNA, long non-coding							Standard	NR_073179		Approved				OTTHUMG00000182815		19.37:g.42989362C>T				RNA	SNP	-	NULL	ENST00000594688.1	37	NULL		19																																																																																			CTB-50E14.6	-	-		0.393	LIPE-AS1-004	KNOWN	basic	antisense	LOC100996307	Clone_based_vega_gene	antisense	OTTHUMT00000464099.1	C	NR_073179		42989362	+1	no_errors	ENST00000457234	ensembl	human	known	70_37	rna	SNP	1.000	T
LOC653786	653786	genome.wustl.edu	37	16	22588020	22588020	+	RNA	SNP	G	G	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr16:22588020G>T	ENST00000550753.1	+	0	2495					NR_003676.2																						TGAGCACATCGTCCTGTGTTG	0.572																																																	0																																												101060424																															16.37:g.22588020G>T				RNA	SNP	-	NULL	ENST00000550753.1	37	NULL		16																																																																																			RP11-368J21.3	-	-		0.572	RP11-368J21.3-001	KNOWN	basic	processed_transcript	LOC101060424	Clone_based_vega_gene	pseudogene	OTTHUMT00000409041.1	G			22588020	+1	no_errors	ENST00000550753	ensembl	human	known	70_37	rna	SNP	0.004	T
LRSAM1	90678	genome.wustl.edu	37	9	130257620	130257620	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr9:130257620G>A	ENST00000323301.4	+	21	2225	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	LRSAM1_ENST00000373322.1_Missense_Mutation_p.E541K|LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373324.4_Missense_Mutation_p.E514K|LRSAM1_ENST00000300417.6_Missense_Mutation_p.E541K	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	541					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						AGCCAAAAGTGAAACCAGGCA	0.468																																																	0													83.0	79.0	80.0					9																	130257620		2203	4300	6503	SO:0001583	missense	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.1621G>A	9.37:g.130257620G>A	ENSP00000322937:p.Glu541Lys		Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Missense_Mutation	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.E541K	ENST00000323301.4	37	c.1621	CCDS6873.1	9	.	.	.	.	.	.	.	.	.	.	G	29.5	5.008374	0.93346	.	.	ENSG00000148356	ENST00000300417;ENST00000373324;ENST00000323301;ENST00000373322	T;T;T;T	0.76186	1.36;-1.0;1.36;1.36	5.73	5.73	0.89815	.	0.047524	0.85682	D	0.000000	D	0.83908	0.5356	L	0.53249	1.67	0.58432	D	0.999995	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.98	D	0.84361	0.0538	10	0.72032	D	0.01	-17.9414	17.7591	0.88459	0.0:0.0:1.0:0.0	.	514;541	Q6UWE0-2;Q6UWE0	.;LRSM1_HUMAN	K	541;514;541;541	ENSP00000300417:E541K;ENSP00000362421:E514K;ENSP00000322937:E541K;ENSP00000362419:E541K	ENSP00000300417:E541K	E	+	1	0	LRSAM1	129297441	1.000000	0.71417	0.983000	0.44433	0.977000	0.68977	7.709000	0.84645	2.854000	0.98071	0.655000	0.94253	GAA	LRSAM1	-	NULL		0.468	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRSAM1	HGNC	protein_coding	OTTHUMT00000054164.1	G	NM_138361		130257620	+1	no_errors	ENST00000300417	ensembl	human	known	70_37	missense	SNP	0.999	A
MEOX2	4223	genome.wustl.edu	37	7	15725877	15725877	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr7:15725877C>T	ENST00000262041.5	-	1	560	c.151G>A	c.(151-153)Gcg>Acg	p.A51T	AC005550.4_ENST00000442176.1_lincRNA|AC005550.5_ENST00000438923.1_lincRNA	NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	51					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|limb development (GO:0060173)|multicellular organismal development (GO:0007275)|neuron death (GO:0070997)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|somite specification (GO:0001757)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		GGGTATCCCGCGATTATGCAA	0.567																																					Esophageal Squamous(140;197 1769 16409 18257 29929)												0													61.0	55.0	57.0					7																	15725877		2203	4300	6503	SO:0001583	missense	4223				CCDS34605.1	7p22.1-p21.3	2014-07-15	2005-12-22		ENSG00000106511	ENSG00000106511		"""Homeoboxes / ANTP class : HOXL subclass"""	7014	protein-coding gene	gene with protein product	"""growth arrest-specific homeobox"""	600535	"""mesenchyme homeo box 2 (growth arrest-specific homeo box)"", ""mesenchyme homeobox 2 (growth arrest-specific homeo box)"""	GAX		7713505	Standard	NM_005924		Approved	MOX2	uc003stc.3	P50222	OTTHUMG00000152390	ENST00000262041.5:c.151G>A	7.37:g.15725877C>T	ENSP00000262041:p.Ala51Thr		B2R8I7|O75263|Q9UPL6	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.A51T	ENST00000262041.5	37	c.151	CCDS34605.1	7	.	.	.	.	.	.	.	.	.	.	C	2.902	-0.227297	0.06022	.	.	ENSG00000106511	ENST00000262041	D	0.89939	-2.59	4.88	4.88	0.63580	.	0.266291	0.35677	N	0.003046	T	0.73385	0.3580	N	0.04636	-0.2	0.36656	D	0.877667	B	0.10296	0.003	B	0.01281	0.0	T	0.70662	-0.4810	10	0.14252	T	0.57	-11.4553	10.2938	0.43612	0.0:0.8452:0.0:0.1548	.	51	P50222	MEOX2_HUMAN	T	51	ENSP00000262041:A51T	ENSP00000262041:A51T	A	-	1	0	MEOX2	15692402	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.286000	0.43496	2.424000	0.82194	0.650000	0.86243	GCG	MEOX2	-	NULL		0.567	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEOX2	HGNC	protein_coding	OTTHUMT00000326058.2	C	NM_005924		15725877	-1	no_errors	ENST00000262041	ensembl	human	known	70_37	missense	SNP	1.000	T
MERTK	10461	genome.wustl.edu	37	2	112761481	112761481	+	Splice_Site	SNP	G	G	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr2:112761481G>T	ENST00000295408.4	+	13	2044	c.1787G>T	c.(1786-1788)gGa>gTa	p.G596V	MERTK_ENST00000409780.1_Splice_Site_p.G420V|MERTK_ENST00000421804.2_Splice_Site_p.G596V			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	596	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CACTTCACAGGAGAGTTTGGG	0.458																																																	0													175.0	155.0	162.0					2																	112761481		2203	4300	6503	SO:0001630	splice_region_variant	10461			U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.1787-1G>T	2.37:g.112761481G>T			Q9HBB4	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Rhodanese-like_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G596V	ENST00000295408.4	37	c.1787	CCDS2094.1	2	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179980	0.78564	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780	D;D;D	0.94862	-3.54;-3.54;-3.54	5.22	5.22	0.72569	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.32518	U	0.005990	D	0.98689	0.9560	H	0.99609	4.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99264	1.0891	9	.	.	.	.	16.0522	0.80772	0.0:0.0:1.0:0.0	.	596	Q12866	MERTK_HUMAN	V	596;596;238;420	ENSP00000295408:G596V;ENSP00000389152:G596V;ENSP00000387277:G420V	.	G	+	2	0	MERTK	112477952	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.845000	0.86875	2.595000	0.87683	0.637000	0.83480	GGA	MERTK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.458	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MERTK	HGNC	protein_coding	OTTHUMT00000254046.2	G		Missense_Mutation	112761481	+1	no_errors	ENST00000295408	ensembl	human	known	70_37	missense	SNP	1.000	T
MICALL2	79778	genome.wustl.edu	37	7	1479617	1479617	+	Missense_Mutation	SNP	G	G	T	rs374682289		TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr7:1479617G>T	ENST00000297508.7	-	9	2085	c.1910C>A	c.(1909-1911)aCc>aAc	p.T637N	MICALL2_ENST00000471899.1_5'Flank|MICALL2_ENST00000405088.4_Missense_Mutation_p.T425N	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	637	Mediates targeting to the cell plasma membrane. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CCTCACGGGGGTCAGGGTGAT	0.706																																																	0													31.0	33.0	32.0					7																	1479617		2195	4294	6489	SO:0001583	missense	79778			BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"""junctional Rab13-binding protein"""					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.1910C>A	7.37:g.1479617G>T	ENSP00000297508:p.Thr637Asn		D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.T637N	ENST00000297508.7	37	c.1910	CCDS5324.1	7	.	.	.	.	.	.	.	.	.	.	G	11.26	1.585507	0.28268	.	.	ENSG00000164877	ENST00000405088;ENST00000297508	T;T	0.69175	2.46;-0.38	3.19	-0.298	0.12814	.	1.418460	0.05194	N	0.503693	T	0.66458	0.2791	L	0.32530	0.975	0.09310	N	1	P;D	0.76494	0.937;0.999	B;D	0.63488	0.307;0.915	T	0.56329	-0.7997	10	0.18276	T	0.48	.	4.7431	0.13024	0.1388:0.4425:0.4187:0.0	.	637;425	Q8IY33;D3YTD2	MILK2_HUMAN;.	N	425;637	ENSP00000385928:T425N;ENSP00000297508:T637N	ENSP00000297508:T637N	T	-	2	0	MICALL2	1446143	0.954000	0.32549	0.001000	0.08648	0.048000	0.14542	0.685000	0.25378	0.133000	0.18654	-0.266000	0.10368	ACC	MICALL2	-	NULL		0.706	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALL2	HGNC	protein_coding	OTTHUMT00000239223.2	G	NM_182924		1479617	-1	no_errors	ENST00000297508	ensembl	human	known	70_37	missense	SNP	0.001	T
PVT1	5820	genome.wustl.edu	37	8	128808236	128808236	+	RNA	SNP	G	G	A			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr8:128808236G>A	ENST00000408388.1	+	0	29					NR_031609.1				Pvt1 oncogene (non-protein coding)																		CATTATTTGAGATGAGTTACA	0.488																																																	0													103.0	107.0	106.0					8																	128808236		692	1591	2283			100302185			M31519		8q24	2014-07-18	2008-09-02		ENSG00000249859	ENSG00000249859		"""-"""	9709	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 79"", ""long intergenic non-protein coding RNA 79"""	165140	"""pvt-1 (murine) oncogene homolog, MYC activator"", ""Pvt1 oncogene homolog (mouse)"""			17503467, 23801869	Standard	NR_003367		Approved	NCRNA00079, LINC00079	uc003ysl.3		OTTHUMG00000164871		8.37:g.128808236G>A				RNA	SNP	-	NULL	ENST00000408388.1	37	NULL		8																																																																																			MIR1204	-	-		0.488	PVT1-201	KNOWN	basic	miRNA	MIR1204	HGNC	processed_transcript		G	NR_003367		128808236	+1	no_errors	ENST00000408388	ensembl	human	known	70_37	rna	SNP	0.001	A
MIB1	57534	genome.wustl.edu	37	18	19409106	19409106	+	Intron	SNP	G	G	A			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr18:19409106G>A	ENST00000261537.6	+	13	2093				MIR133A1_ENST00000384961.1_RNA|MIR133A1_ENST00000581072.1_RNA|MIR133A1_ENST00000581613.1_RNA|MIB1_ENST00000578646.1_Intron|MIR133A1_ENST00000577659.1_RNA	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1						blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			ATTTGTTAGTGAAACATTCAG	0.294																																																	0													38.0	33.0	35.0					18																	19409106		692	1579	2271	SO:0001627	intron_variant	406922			AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.1830-9220G>A	18.37:g.19409106G>A			B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	RNA	SNP	-	NULL	ENST00000261537.6	37	NULL	CCDS11871.1	18																																																																																			hsa-mir-133a-1	-	-		0.294	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR133A1	miRBase	protein_coding	OTTHUMT00000254675.1	G	NM_020774		19409106	-1	no_errors	ENST00000581072	ensembl	human	known	70_37	rna	SNP	0.031	A
TPTE2P2	644623	genome.wustl.edu	37	13	52809355	52809355	+	RNA	SNP	C	C	A	rs9535926	byFrequency	TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr13:52809355C>A	ENST00000451298.1	-	0	856				TPTE2P2_ENST00000606973.1_RNA																							TCTTTCATACCTCTGCAGTTA	0.368													c|||	2081	0.415535	0.1392	0.4265	5008	,	,		17061	0.5903		0.6083	False		,,,				2504	0.4029																0																																												100887750																															13.37:g.52809355C>A				RNA	SNP	-	NULL	ENST00000451298.1	37	NULL		13																																																																																			RP11-64P12.8	-	-		0.368	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	MRPS31P5	Clone_based_vega_gene	processed_transcript	OTTHUMT00000471093.1	C			52809355	-1	no_errors	ENST00000422308	ensembl	human	known	70_37	rna	SNP	0.989	A
MSC	9242	genome.wustl.edu	37	8	72754893	72754893	+	3'UTR	SNP	G	G	A			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr8:72754893G>A	ENST00000325509.4	-	0	913				MSC_ENST00000518440.1_5'UTR|RP11-383H13.1_ENST00000524152.1_5'Flank|RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000537896.1_5'Flank	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin						branchiomeric skeletal muscle development (GO:0014707)|diaphragm development (GO:0060539)|palate development (GO:0060021)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			GTTCCAGTCCGATTTAAGCGG	0.507																																																	0													373.0	374.0	374.0					8																	72754893		1959	4139	6098	SO:0001624	3_prime_UTR_variant	9242				CCDS43746.1	8q13.3	2013-06-07	2010-04-28		ENSG00000178860	ENSG00000178860		"""Basic helix-loop-helix proteins"""	7321	protein-coding gene	gene with protein product	"""activated B-cell factor-1"""	603628	"""musculin (activated B-cell factor-1)"""			9584154, 10198176	Standard	NM_005098		Approved	ABF-1, bHLHa22	uc003xyx.1	O60682	OTTHUMG00000164489	ENST00000325509.4:c.*3C>T	8.37:g.72754893G>A			O75946|Q53XZ2|Q9BRE7	RNA	SNP	-	NULL	ENST00000325509.4	37	NULL	CCDS43746.1	8																																																																																			MSC	-	-		0.507	MSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSC	HGNC	protein_coding	OTTHUMT00000378974.1	G	NM_005098		72754893	-1	no_errors	ENST00000518440	ensembl	human	putative	70_37	rna	SNP	0.000	A
MYO5B	4645	genome.wustl.edu	37	18	47363917	47363917	+	Missense_Mutation	SNP	A	A	G	rs138128932	byFrequency	TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr18:47363917A>G	ENST00000285039.7	-	37	5407	c.5108T>C	c.(5107-5109)gTc>gCc	p.V1703A	SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Missense_Mutation_p.V818A|MYO5B_ENST00000592688.1_Missense_Mutation_p.V273A|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.V26A	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1703	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)	p.V1703A(5)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CCAAGAGCAGACGTCCTTCCG	0.527																																																	5	Substitution - Missense(5)	endometrium(2)|kidney(2)|lung(1)											70.0	68.0	69.0					18																	47363917		2027	4186	6213	SO:0001583	missense	4645			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.5108T>C	18.37:g.47363917A>G	ENSP00000285039:p.Val1703Ala		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V1703A	ENST00000285039.7	37	c.5108	CCDS42436.1	18	.	.	.	.	.	.	.	.	.	.	A	14.46	2.542024	0.45280	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	D;T	0.86432	-2.12;2.51	4.77	0.996	0.19844	Dilute (1);Dil domain (1);	0.146358	0.45126	N	0.000396	T	0.78534	0.4298	L	0.40543	1.245	0.36910	D	0.890859	B;B	0.13145	0.001;0.007	B;B	0.21708	0.012;0.036	T	0.66284	-0.5962	10	0.19147	T	0.46	.	8.6034	0.33758	0.7815:0.0:0.2185:0.0	.	1703;818	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	A	1703;818	ENSP00000285039:V1703A;ENSP00000315531:V818A	ENSP00000285039:V1703A	V	-	2	0	MYO5B	45617915	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.310000	0.59141	0.082000	0.17018	0.482000	0.46254	GTC	MYO5B	-	pfam_Dil_domain,pfscan_Dilute		0.527	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5B	HGNC	protein_coding	OTTHUMT00000448515.2	A			47363917	-1	no_errors	ENST00000285039	ensembl	human	known	70_37	missense	SNP	1.000	G
NCKIPSD	51517	genome.wustl.edu	37	3	48719192	48719192	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr3:48719192G>T	ENST00000294129.2	-	5	739	c.620C>A	c.(619-621)tCc>tAc	p.S207Y	NCKIPSD_ENST00000341520.4_Missense_Mutation_p.S207Y|NCKIPSD_ENST00000416649.2_Missense_Mutation_p.S200Y	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	207	Pro-rich.|Ser/Thr-rich.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|NLS-bearing protein import into nucleus (GO:0006607)|signal transduction (GO:0007165)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	cytoskeletal protein binding (GO:0008092)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTTACCCCCGGAGGGCATGGT	0.627																																																	0													19.0	24.0	23.0					3																	48719192		2140	4243	6383	SO:0001583	missense	51517			AF178432	CCDS2776.1, CCDS46827.1	3p21	2008-07-18			ENSG00000213672	ENSG00000213672			15486	protein-coding gene	gene with protein product	"""dia interacting protein"", ""diaphanous protein interacting protein"", ""SH3 protein interacting with Nck, 90 kDa"""	606671				10648423, 10619843	Standard	NM_016453		Approved	AF3P21, SPIN90, ORF1, WISH, WASLBP, DIP1	uc003cun.3	Q9NZQ3	OTTHUMG00000133542	ENST00000294129.2:c.620C>A	3.37:g.48719192G>T	ENSP00000294129:p.Ser207Tyr		B4DFL5|Q6GU34|Q6SPF3|Q8TC10|Q9UGM8	Missense_Mutation	SNP	pfam_DUF2013,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.S207Y	ENST00000294129.2	37	c.620	CCDS2776.1	3	.	.	.	.	.	.	.	.	.	.	G	13.16	2.154076	0.38021	.	.	ENSG00000213672	ENST00000341520;ENST00000416649;ENST00000294129;ENST00000439518;ENST00000453349;ENST00000426678	T;T;T;T	0.51325	0.71;1.34;1.32;1.34	4.14	3.25	0.37280	.	0.416177	0.20953	U	0.082703	T	0.37758	0.1015	L	0.36672	1.1	0.21445	N	0.999686	P;P;P	0.47191	0.826;0.826;0.891	P;B;B	0.45037	0.467;0.259;0.444	T	0.12218	-1.0556	10	0.34782	T	0.22	.	7.2134	0.25947	0.0995:0.1946:0.706:0.0	.	207;207;200	C9JSC3;Q9NZQ3;Q9NZQ3-3	.;SPN90_HUMAN;.	Y	207;200;207;207;129;91	ENSP00000342621:S207Y;ENSP00000389059:S200Y;ENSP00000294129:S207Y;ENSP00000409675:S207Y	ENSP00000294129:S207Y	S	-	2	0	NCKIPSD	48694196	0.997000	0.39634	0.076000	0.20297	0.048000	0.14542	2.752000	0.47516	0.987000	0.38709	0.462000	0.41574	TCC	NCKIPSD	-	NULL		0.627	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKIPSD	HGNC	protein_coding	OTTHUMT00000257520.1	G	NM_016453		48719192	-1	no_errors	ENST00000294129	ensembl	human	known	70_37	missense	SNP	0.141	T
NDUFAF4	29078	genome.wustl.edu	37	6	97345680	97345680	+	5'UTR	SNP	C	C	G			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr6:97345680C>G	ENST00000316149.7	-	0	77				NDUFAF4_ENST00000489477.1_5'UTR	NM_014165.3	NP_054884.1	Q9P032	NDUF4_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 4						mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)				large_intestine(5)|lung(3)|ovary(1)|skin(1)	10						GCTCCCATCTCCTCATAACAT	0.577											OREG0017572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													124.0	118.0	120.0					6																	97345680		2203	4300	6503	SO:0001623	5_prime_UTR_variant	29078			AF161474	CCDS5037.1	6q16.3	2012-10-12	2012-05-08	2009-03-18	ENSG00000123545	ENSG00000123545		"""Mitochondrial respiratory chain complex assembly factors"""	21034	protein-coding gene	gene with protein product		611776	"""chromosome 6 open reading frame 66"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4"""	C6orf66		11042152, 18179882	Standard	NM_014165		Approved	HSPC125, bA22L21.1, My013, HRPAP20	uc003pow.3	Q9P032	OTTHUMG00000015246	ENST00000316149.7:c.-3G>C	6.37:g.97345680C>G		1327	B2R4J5	RNA	SNP	-	NULL	ENST00000316149.7	37	NULL	CCDS5037.1	6																																																																																			NDUFAF4	-	-		0.577	NDUFAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFAF4	HGNC	protein_coding	OTTHUMT00000041567.1	C	NM_014165		97345680	-1	no_errors	ENST00000489477	ensembl	human	known	70_37	rna	SNP	0.004	G
NIPBL	25836	genome.wustl.edu	37	5	37006623	37006624	+	Nonsense_Mutation	DNP	TA	TA	AT			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	T|A	T|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr5:37006623_37006624TA>AT	ENST00000282516.8	+	17	4519_4520	c.4020_4021TA>AT	c.(4018-4023)acTAaa>acATaa	p.K1341*	NIPBL_ENST00000448238.2_Nonsense_Mutation_p.K1341*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1341					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TACAGTACACTAAATTTCATTT	0.337																																																	0																																										SO:0001587	stop_gained	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	Exception_encountered	5.37:g.37006623_37006624delinsAT	ENSP00000282516:p.Lys1341*		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Silent|Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.T1340|p.K1341*	ENST00000282516.8	37	c.4020|c.4021	CCDS3920.1	5																																																																																			NIPBL	-	NULL		0.337	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	T|A	NM_015384		37006623|37006624	+1	no_errors	ENST00000282516	ensembl	human	known	70_37	silent|nonsense	SNP	1.000	A|T
NLGN4X	57502	genome.wustl.edu	37	X	5821213	5821213	+	Silent	SNP	G	G	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chrX:5821213G>T	ENST00000381095.3	-	5	2133	c.1506C>A	c.(1504-1506)atC>atA	p.I502I	NLGN4X_ENST00000275857.6_Silent_p.I502I|NLGN4X_ENST00000538097.1_Silent_p.I502I|NLGN4X_ENST00000381093.2_Silent_p.I522I|NLGN4X_ENST00000381092.1_Silent_p.I502I	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	502					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CGGTGGGACCGATCATGGGGA	0.537																																																	0													99.0	83.0	88.0					X																	5821213		2203	4300	6503	SO:0001819	synonymous_variant	57502			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1506C>A	X.37:g.5821213G>T			Q6UX10|Q9ULG0	Silent	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.I522	ENST00000381095.3	37	c.1566	CCDS14126.1	X																																																																																			NLGN4X	-	pfam_CarbesteraseB		0.537	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	NLGN4X	HGNC	protein_coding	OTTHUMT00000055673.1	G	NM_020742		5821213	-1	no_errors	ENST00000381093	ensembl	human	known	70_37	silent	SNP	0.742	T
NOX3	50508	genome.wustl.edu	37	6	155775958	155775958	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr6:155775958C>T	ENST00000159060.2	-	3	344	c.242G>A	c.(241-243)aGa>aAa	p.R81K		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	81	Ferric oxidoreductase.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		ACTTGTTCCTCTTATGAATGA	0.353																																																	0													53.0	53.0	53.0					6																	155775958		2203	4300	6503	SO:0001583	missense	50508			AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.242G>A	6.37:g.155775958C>T	ENSP00000159060:p.Arg81Lys		Q9HBJ9	Missense_Mutation	SNP	pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.R81K	ENST00000159060.2	37	c.242	CCDS5250.1	6	.	.	.	.	.	.	.	.	.	.	C	24.7	4.555814	0.86231	.	.	ENSG00000074771	ENST00000159060	D	0.95724	-3.79	5.91	5.91	0.95273	Flavoprotein transmembrane component (1);	0.080496	0.53938	D	0.000052	D	0.98397	0.9467	M	0.92691	3.335	0.43076	D	0.994723	D	0.76494	0.999	D	0.80764	0.994	D	0.98888	1.0772	10	0.87932	D	0	-15.8309	20.3011	0.98612	0.0:1.0:0.0:0.0	.	81	Q9HBY0	NOX3_HUMAN	K	81	ENSP00000159060:R81K	ENSP00000159060:R81K	R	-	2	0	NOX3	155817650	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.470000	0.60175	2.804000	0.96469	0.650000	0.86243	AGA	NOX3	-	pfam_Fe3_Rdtase_TM_dom		0.353	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX3	HGNC	protein_coding	OTTHUMT00000042819.1	C			155775958	-1	no_errors	ENST00000159060	ensembl	human	known	70_37	missense	SNP	1.000	T
NPAP1	23742	genome.wustl.edu	37	15	24921639	24921639	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr15:24921639G>A	ENST00000329468.2	+	1	1099	c.625G>A	c.(625-627)Gag>Aag	p.E209K		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	209					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											TGGGCCTCTGGAGGGAAATGT	0.607																																																	0													36.0	35.0	35.0					15																	24921639		2203	4300	6503	SO:0001583	missense	23742			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.625G>A	15.37:g.24921639G>A	ENSP00000333735:p.Glu209Lys			Missense_Mutation	SNP	NULL	p.E209K	ENST00000329468.2	37	c.625	CCDS10015.1	15	.	.	.	.	.	.	.	.	.	.	.	6.420	0.445599	0.12164	.	.	ENSG00000185823	ENST00000329468	T	0.06768	3.26	2.07	-0.481	0.12082	.	2.067240	0.02858	N	0.129924	T	0.06096	0.0158	N	0.14661	0.345	0.09310	N	1	B	0.26602	0.154	B	0.38655	0.278	T	0.36480	-0.9746	10	0.02654	T	1	.	4.4308	0.11525	0.4888:0.0:0.5112:0.0	.	209	Q9NZP6	CO002_HUMAN	K	209	ENSP00000333735:E209K	ENSP00000333735:E209K	E	+	1	0	C15orf2	22472732	0.005000	0.15991	0.000000	0.03702	0.055000	0.15305	0.115000	0.15540	-0.107000	0.12088	0.436000	0.28706	GAG	NPAP1	-	NULL		0.607	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAP1	HGNC	protein_coding	OTTHUMT00000251253.1	G	NM_018958		24921639	+1	no_errors	ENST00000329468	ensembl	human	known	70_37	missense	SNP	0.000	A
OR10K1	391109	genome.wustl.edu	37	1	158436055	158436055	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr1:158436055A>G	ENST00000289451.2	+	1	784	c.704A>G	c.(703-705)tAc>tGc	p.Y235C		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					GTTGGAAGATACAAGACCTTC	0.448																																																	0													152.0	131.0	138.0					1																	158436055		2203	4300	6503	SO:0001583	missense	391109			AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"""GPCR / Class A : Olfactory receptors"""	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.704A>G	1.37:g.158436055A>G	ENSP00000289451:p.Tyr235Cys		Q6IFS2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y235C	ENST00000289451.2	37	c.704	CCDS30897.1	1	.	.	.	.	.	.	.	.	.	.	a	6.613	0.481500	0.12581	.	.	ENSG00000173285	ENST00000289451	T	0.00107	8.72	4.24	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.427917	0.17242	N	0.181506	T	0.00039	0.0001	N	0.25647	0.755	0.23401	N	0.997756	B	0.16802	0.019	B	0.19666	0.026	T	0.14392	-1.0474	10	0.44086	T	0.13	.	12.446	0.55651	1.0:0.0:0.0:0.0	.	235	Q8NGX5	O10K1_HUMAN	C	235	ENSP00000289451:Y235C	ENSP00000289451:Y235C	Y	+	2	0	OR10K1	156702679	0.000000	0.05858	0.351000	0.25721	0.449000	0.32228	0.467000	0.22035	1.753000	0.51906	0.455000	0.32223	TAC	OR10K1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.448	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10K1	HGNC	protein_coding	OTTHUMT00000046367.1	A			158436055	+1	no_errors	ENST00000289451	ensembl	human	known	70_37	missense	SNP	0.909	G
OR11L1	391189	genome.wustl.edu	37	1	248004471	248004471	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr1:248004471G>A	ENST00000355784.2	-	1	783	c.728C>T	c.(727-729)tCc>tTc	p.S243F		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	243						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGCCAGGTGGGAGCCACATGT	0.488																																																	0													107.0	105.0	106.0					1																	248004471		2203	4300	6503	SO:0001583	missense	391189			AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.728C>T	1.37:g.248004471G>A	ENSP00000348033:p.Ser243Phe			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S243F	ENST00000355784.2	37	c.728	CCDS31098.1	1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.788857	0.70337	.	.	ENSG00000197591	ENST00000355784	T	0.39056	1.1	4.42	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.241139	0.21383	U	0.075428	T	0.70579	0.3240	M	0.88842	2.985	0.34927	D	0.74903	D	0.89917	1.0	D	0.91635	0.999	T	0.82493	-0.0430	10	0.87932	D	0	.	17.171	0.86830	0.0:0.0:1.0:0.0	.	243	Q8NGX0	O11L1_HUMAN	F	243	ENSP00000348033:S243F	ENSP00000348033:S243F	S	-	2	0	OR11L1	246071094	0.921000	0.31238	0.997000	0.53966	0.905000	0.53344	5.397000	0.66302	2.465000	0.83290	0.543000	0.68304	TCC	OR11L1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.488	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11L1	HGNC	protein_coding	OTTHUMT00000096850.1	G	NM_001001959		248004471	-1	no_errors	ENST00000355784	ensembl	human	known	70_37	missense	SNP	0.998	A
OR7E19P	26651	genome.wustl.edu	37	19	9376479	9376479	+	RNA	SNP	C	C	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr19:9376479C>T	ENST00000588789.1	-	0	142									olfactory receptor, family 7, subfamily E, member 19 pseudogene																		TTAAAGATTTCCACATTCTTG	0.358																																																	0																																												26651					19p13.2	2014-03-20			ENSG00000225980	ENSG00000225980		"""GPCR / Class A : Olfactory receptors"""	8390	pseudogene	pseudogene				OR7E65			Standard	NG_002356		Approved	OR19-7			OTTHUMG00000179940		19.37:g.9376479C>T				RNA	SNP	-	NULL	ENST00000588789.1	37	NULL		19																																																																																			OR7E19P	-	-		0.358	OR7E19P-002	KNOWN	basic	processed_transcript	OR7E19P	HGNC	pseudogene	OTTHUMT00000449009.1	C			9376479	-1	no_errors	ENST00000588789	ensembl	human	known	70_37	rna	SNP	0.020	T
OTUD5	55593	genome.wustl.edu	37	X	48781175	48781175	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chrX:48781175G>T	ENST00000156084.4	-	7	1493	c.1433C>A	c.(1432-1434)cCa>cAa	p.P478Q	OTUD5_ENST00000484499.1_5'Flank|OTUD5_ENST00000396743.3_Missense_Mutation_p.P473Q|OTUD5_ENST00000376488.3_Missense_Mutation_p.P473Q|OTUD5_ENST00000428668.2_Missense_Mutation_p.P256Q	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU deubiquitinase 5	478					innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)	ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						AACAGTGCCTGGGGAAGGGGG	0.622																																																	0													62.0	60.0	61.0					X																	48781175		2203	4300	6503	SO:0001583	missense	55593				CCDS14313.1, CCDS48104.1, CCDS48105.1	Xp11.23	2014-06-09	2014-02-24		ENSG00000068308	ENSG00000068308		"""OTU domain containing"""	25402	protein-coding gene	gene with protein product		300713	"""OTU domain containing 5"""			24143256	Standard	NM_001136157		Approved	DKFZp761A052, DUBA	uc004dlu.3	Q96G74	OTTHUMG00000024130	ENST00000156084.4:c.1433C>A	X.37:g.48781175G>T	ENSP00000156084:p.Pro478Gln		B4DGG7|G5E9D7|Q4KMN9|Q8N6T5|Q9H650|Q9H9U0|Q9NT65	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.P478Q	ENST00000156084.4	37	c.1433	CCDS14313.1	X	.	.	.	.	.	.	.	.	.	.	G	16.50	3.142105	0.57044	.	.	ENSG00000068308	ENST00000396743;ENST00000453548;ENST00000455452;ENST00000156084;ENST00000376488;ENST00000428668	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	4.19	4.19	0.49359	.	0.000000	0.85682	D	0.000000	T	0.42743	0.1216	M	0.62723	1.935	0.46416	D	0.999036	P;P;P	0.50943	0.94;0.838;0.899	B;B;B	0.42959	0.403;0.202;0.367	T	0.51857	-0.8652	10	0.72032	D	0.01	-15.8988	13.2163	0.59863	0.0:0.0:1.0:0.0	.	256;478;473	B4DGG7;Q96G74;G5E9D7	.;OTUD5_HUMAN;.	Q	473;449;351;478;473;256	ENSP00000379969:P473Q;ENSP00000390767:P351Q;ENSP00000156084:P478Q;ENSP00000365671:P473Q;ENSP00000401629:P256Q	ENSP00000156084:P478Q	P	-	2	0	OTUD5	48666119	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	7.739000	0.84976	2.351000	0.79841	0.523000	0.50628	CCA	OTUD5	-	NULL		0.622	OTUD5-003	KNOWN	basic|CCDS	protein_coding	OTUD5	HGNC	protein_coding	OTTHUMT00000060799.1	G	NM_017602		48781175	-1	no_errors	ENST00000156084	ensembl	human	known	70_37	missense	SNP	1.000	T
PCSK9	255738	genome.wustl.edu	37	1	55505538	55505539	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr1:55505538_55505539insGA	ENST00000302118.5	+	1	318_319	c.28_29insGA	c.(28-30)tggfs	p.W10fs	PCSK9_ENST00000452118.2_Frame_Shift_Ins_p.W10fs|PCSK9_ENST00000543384.1_5'Flank	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	10					apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						CAGGCGGTCCTGGTGgccgctg	0.723																																					Pancreas(137;1454 1827 5886 22361 42375)												0																																										SO:0001589	frameshift_variant	255738			AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"""hypercholesterolemia, autosomal dominant 3"""	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	Exception_encountered	1.37:g.55505538_55505539insGA	ENSP00000303208:p.Trp10fs		A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Frame_Shift_Ins	INS	pfam_Peptidase_S8/S53,pfam_Inhibitor_I9,superfamily_Peptidase_S8/S53,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.W10fs	ENST00000302118.5	37	c.28_29	CCDS603.1	1																																																																																			PCSK9	-	NULL		0.723	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK9	HGNC	protein_coding	OTTHUMT00000022280.1	-	NM_174936		55505539	+1	no_errors	ENST00000302118	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.154	GA
PHLPP1	23239	genome.wustl.edu	37	18	60646371	60646371	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr18:60646371C>T	ENST00000262719.5	+	17	5095	c.4861C>T	c.(4861-4863)Cgg>Tgg	p.R1621W	PHLPP1_ENST00000400316.4_Missense_Mutation_p.R1109W			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1621					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						CATTGGGCGCCGGAGGGCCAA	0.592																																																	0													30.0	34.0	32.0					18																	60646371		1965	4147	6112	SO:0001583	missense	23239			AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.4861C>T	18.37:g.60646371C>T	ENSP00000262719:p.Arg1621Trp		A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like,pfscan_Pleckstrin_homology	p.R1621W	ENST00000262719.5	37	c.4861	CCDS45881.2	18	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069299	0.55539	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.35236	1.57;1.32	4.08	3.11	0.35812	.	.	.	.	.	T	0.49423	0.1556	L	0.44542	1.39	0.50171	D	0.999851	D	0.89917	1.0	D	0.67548	0.952	T	0.55010	-0.8207	9	0.87932	D	0	-14.9656	14.2186	0.65809	0.1597:0.8403:0.0:0.0	.	1621	O60346	PHLP1_HUMAN	W	1109;1621	ENSP00000383170:R1109W;ENSP00000262719:R1621W	ENSP00000262719:R1621W	R	+	1	2	PHLPP1	58797351	0.635000	0.27199	1.000000	0.80357	0.978000	0.69477	1.006000	0.29847	2.115000	0.64714	0.561000	0.74099	CGG	PHLPP1	-	NULL		0.592	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PHLPP1	HGNC	protein_coding	OTTHUMT00000319249.2	C	NM_194449		60646371	+1	no_errors	ENST00000262719	ensembl	human	known	70_37	missense	SNP	0.756	T
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936091	+1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A
PIK3R3	8503	genome.wustl.edu	37	1	46512229	46512229	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr1:46512229G>C	ENST00000262741.5	-	8	1699	c.1010C>G	c.(1009-1011)gCt>gGt	p.A337G	PIK3R3_ENST00000340332.6_Missense_Mutation_p.A242G|PIK3R3_ENST00000540385.1_Missense_Mutation_p.A383G|PIK3R3_ENST00000423209.1_Missense_Mutation_p.A278G|PIK3R3_ENST00000372006.1_Missense_Mutation_p.A337G|PIK3R3_ENST00000354242.4_Missense_Mutation_p.A278G|PIK3R3_ENST00000420542.1_Missense_Mutation_p.A337G|PIK3R3_ENST00000488808.1_5'UTR|RP4-533D7.4_ENST00000450004.1_RNA	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	337					insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	TTACTCATCAGCATCCTCATT	0.428																																																	0													179.0	169.0	173.0					1																	46512229		2203	4300	6503	SO:0001583	missense	8503			BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"""SH2 domain containing"""	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.1010C>G	1.37:g.46512229G>C	ENSP00000262741:p.Ala337Gly		B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85,prints_SH2	p.A383G	ENST00000262741.5	37	c.1148	CCDS529.1	1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.218211	0.39201	.	.	ENSG00000117461	ENST00000372006;ENST00000262741;ENST00000420542;ENST00000354242;ENST00000340332;ENST00000540385;ENST00000423209	T;T;T;T;D;T;T	0.85702	-1.24;-1.24;-1.24;-1.42;-2.02;-1.24;-1.42	5.1	3.23	0.37069	.	0.480009	0.24884	N	0.034829	T	0.68348	0.2991	N	0.14661	0.345	0.24253	N	0.995319	B;B;B;B	0.28605	0.217;0.0;0.0;0.001	B;B;B;B	0.31946	0.138;0.004;0.001;0.001	T	0.53690	-0.8403	10	0.15499	T	0.54	-7.6544	4.751	0.13061	0.3845:0.0:0.6154:0.0	.	383;370;278;337	F6TDL0;Q7Z3W2;Q92569-2;Q92569	.;.;.;P55G_HUMAN	G	337;337;337;278;242;383;278	ENSP00000361075:A337G;ENSP00000262741:A337G;ENSP00000412546:A337G;ENSP00000346188:A278G;ENSP00000342484:A242G;ENSP00000439913:A383G;ENSP00000391431:A278G	ENSP00000262741:A337G	A	-	2	0	PIK3R3	46284816	0.998000	0.40836	0.923000	0.36655	0.985000	0.73830	3.022000	0.49659	1.527000	0.49086	0.655000	0.94253	GCT	PIK3R3	-	NULL		0.428	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R3	HGNC	protein_coding	OTTHUMT00000022171.1	G	NM_003629		46512229	-1	no_errors	ENST00000540385	ensembl	human	known	70_37	missense	SNP	0.991	C
PKD1	5310	genome.wustl.edu	37	16	2152631	2152631	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr16:2152631G>C	ENST00000262304.4	-	25	9160	c.8952C>G	c.(8950-8952)agC>agG	p.S2984R	PKD1_ENST00000561991.1_5'Flank|PKD1_ENST00000423118.1_Missense_Mutation_p.S2984R	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2984					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTGGGTCTCTGCTCCTGGGCA	0.657																																																	0													28.0	37.0	34.0					16																	2152631		2183	4281	6464	SO:0001583	missense	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.8952C>G	16.37:g.2152631G>C	ENSP00000262304:p.Ser2984Arg		Q15140|Q15141	Missense_Mutation	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.S2984R	ENST00000262304.4	37	c.8952	CCDS32369.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.50|13.50	2.256705|2.256705	0.39896|0.39896	.|.	.|.	ENSG00000008710|ENSG00000008710	ENST00000382481|ENST00000262304;ENST00000423118;ENST00000306101	.|T;T	.|0.36699	.|1.24;1.24	4.66|4.66	-9.32|-9.32	0.00643|0.00643	.|.	.|0.426344	.|0.23043	.|N	.|0.052595	T|T	0.13756|0.13756	0.0333|0.0333	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	1|1	.|P;P	.|0.43094	.|0.799;0.565	.|B;B	.|0.38755	.|0.281;0.26	T|T	0.17623|0.17623	-1.0363|-1.0363	6|10	0.87932|0.22109	D|T	0|0.4	.|.	1.5523|1.5523	0.02578|0.02578	0.387:0.2541:0.2047:0.1542|0.387:0.2541:0.2047:0.1542	.|.	.|2984;2984	.|P98161-3;P98161	.|.;PKD1_HUMAN	G|R	1222|2984;2984;2319	.|ENSP00000262304:S2984R;ENSP00000399501:S2984R	ENSP00000371921:A1222G|ENSP00000262304:S2984R	A|S	-|-	2|3	0|2	PKD1|PKD1	2092632|2092632	0.000000|0.000000	0.05858|0.05858	0.008000|0.008000	0.14137|0.14137	0.030000|0.030000	0.12068|0.12068	-3.929000|-3.929000	0.00332|0.00332	-1.305000|-1.305000	0.02327|0.02327	-0.505000|-0.505000	0.04504|0.04504	GCA|AGC	PKD1	-	NULL		0.657	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	G			2152631	-1	no_errors	ENST00000262304	ensembl	human	known	70_37	missense	SNP	0.006	C
PKHD1	5314	genome.wustl.edu	37	6	51503660	51503660	+	Silent	SNP	G	G	A			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr6:51503660G>A	ENST00000371117.3	-	64	11768	c.11493C>T	c.(11491-11493)gtC>gtT	p.V3831V		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3831					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAGGAGAAGTGACAGTAAAAA	0.373																																																	0													145.0	147.0	147.0					6																	51503660		2203	4300	6503	SO:0001819	synonymous_variant	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11493C>T	6.37:g.51503660G>A			Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.V3831	ENST00000371117.3	37	c.11493	CCDS4935.1	6																																																																																			PKHD1	-	NULL		0.373	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	G	NM_138694		51503660	-1	no_errors	ENST00000371117	ensembl	human	known	70_37	silent	SNP	0.775	A
PLGLB1	5343	genome.wustl.edu	37	2	87240096	87240096	+	3'UTR	SNP	G	G	C			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr2:87240096G>C	ENST00000355705.3	-	0	507				RGPD1_ENST00000409776.2_3'UTR|PLGLB1_ENST00000478636.1_5'UTR|RGPD1_ENST00000559485.1_3'UTR|PLGLB1_ENST00000409310.2_Intron	NM_001032392.2	NP_001027564.1	Q02325	PLGB_HUMAN	plasminogen-like B1							extracellular region (GO:0005576)				large_intestine(1)	1						CTTTACAGTAGATGAACACAA	0.453																																																	0																																										SO:0001624	3_prime_UTR_variant	5343			M86874, M86875, M86876	CCDS33238.1	2p11.2	2008-02-05	2005-03-31	2005-03-31	ENSG00000183281	ENSG00000183281			9072	protein-coding gene	gene with protein product		173340	"""plasminogen-like"""	PLGL		1554698, 2714803	Standard	NM_001032392		Approved	PRP-B		Q02325	OTTHUMG00000154612	ENST00000355705.3:c.*148C>G	2.37:g.87240096G>C			Q580R1	RNA	SNP	-	NULL	ENST00000355705.3	37	NULL	CCDS33238.1	2																																																																																			PLGLB1	-	-		0.453	PLGLB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLGLB1	HGNC	protein_coding	OTTHUMT00000330379.1	G			87240096	-1	no_errors	ENST00000478636	ensembl	human	known	70_37	rna	SNP	0.112	C
POLN	353497	genome.wustl.edu	37	4	2176453	2176453	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr4:2176453C>T	ENST00000511885.2	-	10	1627	c.1274G>A	c.(1273-1275)cGt>cAt	p.R425H	POLN_ENST00000382865.1_Missense_Mutation_p.R425H|POLN_ENST00000515357.1_5'UTR			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	425			R -> C (in dbSNP:rs9328764). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.3}.		double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CTCCAAAGTACGAAATAGTTG	0.333								DNA polymerases (catalytic subunits)																																									0													63.0	69.0	67.0					4																	2176453		2203	4300	6503	SO:0001583	missense	353497			AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"""DNA polymerases"""	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.1274G>A	4.37:g.2176453C>T	ENSP00000435506:p.Arg425His		A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA_polymerase_A	p.R425H	ENST00000511885.2	37	c.1274	CCDS3360.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.41|10.41	1.343124|1.343124	0.24339|0.24339	.|.	.|.	ENSG00000130997|ENSG00000130997	ENST00000511885;ENST00000382865;ENST00000253313;ENST00000382857|ENST00000511098	T;T|.	0.09163|.	3.01;3.01|.	5.64|5.64	3.65|3.65	0.41850|0.41850	.|.	0.376286|.	0.31246|.	N|.	0.007983|.	T|T	0.35422|0.35422	0.0931|0.0931	L|L	0.41710|0.41710	1.295|1.295	0.09310|0.09310	N|N	0.999998|0.999998	P;B;B|.	0.41450|.	0.75;0.297;0.005|.	B;B;B|.	0.31812|.	0.136;0.065;0.004|.	T|T	0.20773|0.20773	-1.0265|-1.0265	10|5	0.17369|.	T|.	0.5|.	0.361|0.361	5.5206|5.5206	0.16931|0.16931	0.0:0.7263:0.0:0.2737|0.0:0.7263:0.0:0.2737	.|.	425;15;425|.	E7ERY2;C9JDP8;Q7Z5Q5|.	.;.;DPOLN_HUMAN|.	H|I	425;425;116;15|59	ENSP00000435506:R425H;ENSP00000372316:R425H|.	ENSP00000253313:R116H|.	R|V	-|-	2|1	0|0	POLN|POLN	2146251|2146251	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.922000|0.922000	0.55478|0.55478	1.249000|1.249000	0.32839|0.32839	1.388000|1.388000	0.46506|0.46506	0.462000|0.462000	0.41574|0.41574	CGT|GTA	POLN	-	NULL		0.333	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLN	HGNC	protein_coding	OTTHUMT00000205684.2	C	NM_181808		2176453	-1	no_errors	ENST00000382865	ensembl	human	known	70_37	missense	SNP	0.998	T
PRAMEF4	400735	genome.wustl.edu	37	1	12941742	12941742	+	Missense_Mutation	SNP	G	G	A	rs4514247	byFrequency	TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr1:12941742G>A	ENST00000235349.5	-	3	878	c.808C>T	c.(808-810)Cgc>Tgc	p.R270C		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	270					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAGGCAGCGCAGCTTGAGG	0.517													g|||	339	0.0676917	0.0295	0.0937	5008	,	,		19524	0.0218		0.1113	False		,,,				2504	0.1033																0								G	CYS/ARG	92,2634		16,60,1287	92.0	114.0	106.0		808	-3.0	0.0	1	dbSNP_111	106	491,4189		59,373,1908	no	missense	PRAMEF4	NM_001009611.2	180	75,433,3195	AA,AG,GG		10.4915,3.3749,7.872	benign	270/479	12941742	583,6823	1363	2340	3703	SO:0001583	missense	400735				CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"""-"""	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.808C>T	1.37:g.12941742G>A	ENSP00000235349:p.Arg270Cys		Q5LJB5	Missense_Mutation	SNP	NULL	p.R270C	ENST00000235349.5	37	c.808	CCDS30592.1	1	.	.	.	.	.	.	.	.	.	.	a	0.770	-0.766178	0.02974	0.033749	0.104915	ENSG00000243073	ENST00000235349	T	0.53640	0.61	1.48	-2.96	0.05547	.	1.296340	0.05107	N	0.488245	T	0.00724	0.0024	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.04041	-1.0982	10	0.48119	T	0.1	.	1.4963	0.02467	0.1516:0.3729:0.286:0.1895	rs4514247	270	O60810	PRAM4_HUMAN	C	270	ENSP00000235349:R270C	ENSP00000235349:R270C	R	-	1	0	PRAMEF4	12864329	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.011000	0.13264	-1.872000	0.01136	-1.914000	0.00519	CGC	PRAMEF4	-	NULL		0.517	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF4	HGNC	protein_coding	OTTHUMT00000005518.1	G	NM_001009611		12941742	-1	no_errors	ENST00000235349	ensembl	human	known	70_37	missense	SNP	0.000	A
PRICKLE2	166336	genome.wustl.edu	37	3	64133026	64133026	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr3:64133026G>T	ENST00000295902.6	-	7	1725	c.1140C>A	c.(1138-1140)agC>agA	p.S380R	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.S436R	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	380					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GGCTGGACAGGCTGAGCATGT	0.602																																																	0													81.0	89.0	86.0					3																	64133026		2203	4300	6503	SO:0001583	missense	166336			AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.1140C>A	3.37:g.64133026G>T	ENSP00000295902:p.Ser380Arg		Q0VF44	Missense_Mutation	SNP	pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.S380R	ENST00000295902.6	37	c.1140	CCDS2902.1	3	.	.	.	.	.	.	.	.	.	.	G	11.86	1.766021	0.31228	.	.	ENSG00000163637	ENST00000295902	T	0.64618	-0.11	5.94	4.14	0.48551	.	0.000000	0.85682	D	0.000000	T	0.74245	0.3691	M	0.62723	1.935	0.58432	D	0.999998	D	0.76494	0.999	D	0.83275	0.996	T	0.74850	-0.3524	10	0.72032	D	0.01	-43.9315	10.4386	0.44450	0.2022:0.0:0.7978:0.0	.	380	Q7Z3G6	PRIC2_HUMAN	R	380	ENSP00000295902:S380R	ENSP00000295902:S380R	S	-	3	2	PRICKLE2	64108066	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	2.584000	0.46102	0.836000	0.34901	-0.291000	0.09656	AGC	PRICKLE2	-	NULL		0.602	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	PRICKLE2	HGNC	protein_coding	OTTHUMT00000352219.1	G	NM_198859		64133026	-1	no_errors	ENST00000295902	ensembl	human	known	70_37	missense	SNP	1.000	T
PRRG1	5638	genome.wustl.edu	37	X	37208597	37208597	+	5'UTR	SNP	G	G	A			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chrX:37208597G>A	ENST00000542554.1	+	0	15				TM4SF2_ENST00000465127.1_5'UTR|PRRG1_ENST00000378628.4_5'UTR|PRRG1_ENST00000543642.1_5'UTR|PRRG1_ENST00000449135.2_5'Flank|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000463135.1_5'Flank	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1							extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						ATAGGAGCGCGCAGGCGCGAC	0.687																																																	0																																										SO:0001623	5_prime_UTR_variant	5638			AF009242	CCDS14239.1, CCDS55397.1	Xp21.1	2010-08-13	2004-05-27		ENSG00000130962	ENSG00000130962			9469	protein-coding gene	gene with protein product		604428	"""proline-rich Gla (G-carboxyglutamic acid) polypeptide 1"""			9256434	Standard	NM_000950		Approved	PRGP1	uc004ddo.3	O14668	OTTHUMG00000021360	ENST00000542554.1:c.-258G>A	X.37:g.37208597G>A			B2R7A3|C9JXL7|D3DWA9|Q5JT66	RNA	SNP	-	NULL	ENST00000542554.1	37	NULL	CCDS14239.1	X																																																																																			PRRG1	-	-		0.687	PRRG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRG1	HGNC	protein_coding	OTTHUMT00000056228.2	G	NM_000950		37208597	+1	no_errors	ENST00000491253	ensembl	human	known	70_37	rna	SNP	0.994	A
PSD	5662	genome.wustl.edu	37	10	104164743	104164743	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr10:104164743G>T	ENST00000020673.5	-	14	2993	c.2467C>A	c.(2467-2469)Ctg>Atg	p.L823M	PSD_ENST00000406432.1_Missense_Mutation_p.L823M	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	823	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CGAGTGGCCAGGGCATGGTGG	0.617																																																	0													88.0	71.0	77.0					10																	104164743		2203	4300	6503	SO:0001583	missense	5662			X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.2467C>A	10.37:g.104164743G>T	ENSP00000020673:p.Leu823Met		B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type	p.L823M	ENST00000020673.5	37	c.2467	CCDS31272.1	10	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414849	0.62511	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.33216	1.42;1.42	4.81	3.91	0.45181	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	D	0.000002	T	0.60728	0.2291	M	0.91459	3.21	0.54753	D	0.999987	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.67960	-0.5535	10	0.87932	D	0	.	10.4534	0.44535	0.1568:0.0:0.8432:0.0	.	823;726;444	A5PKW4;Q86YI3;A5PKW4-2	PSD1_HUMAN;.;.	M	823;726;823	ENSP00000020673:L823M;ENSP00000384830:L823M	ENSP00000020673:L823M	L	-	1	2	PSD	104154733	0.999000	0.42202	0.981000	0.43875	0.996000	0.88848	2.821000	0.48065	1.262000	0.44165	0.549000	0.68633	CTG	PSD	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.617	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PSD	HGNC	protein_coding	OTTHUMT00000050041.2	G			104164743	-1	no_errors	ENST00000020673	ensembl	human	known	70_37	missense	SNP	0.962	T
PTPN23	25930	genome.wustl.edu	37	3	47454054	47454054	+	Silent	SNP	C	C	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr3:47454054C>T	ENST00000265562.4	+	24	4445	c.4368C>T	c.(4366-4368)gtC>gtT	p.V1456V	PTPN23_ENST00000431726.1_Silent_p.V1330V	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1456					cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGGAGCAGGTCCTGCAGCGCC	0.622																																																	0													95.0	85.0	89.0					3																	47454054		2203	4300	6503	SO:0001819	synonymous_variant	25930			AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.4368C>T	3.37:g.47454054C>T			A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Silent	SNP	pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_BRO1_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.V1456	ENST00000265562.4	37	c.4368	CCDS2754.1	3																																																																																			PTPN23	-	NULL		0.622	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN23	HGNC	protein_coding	OTTHUMT00000257492.2	C	NM_015466		47454054	+1	no_errors	ENST00000265562	ensembl	human	known	70_37	silent	SNP	0.995	T
RABGGTB	5876	genome.wustl.edu	37	1	76252883	76252883	+	Intron	SNP	C	C	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr1:76252883C>T	ENST00000319942.3	+	2	74				RABGGTB_ENST00000370826.3_Intron|SNORD45B_ENST00000364617.1_RNA|SNORD45C_ENST00000383893.1_RNA|SNORD45A_ENST00000384512.1_RNA|RABGGTB_ENST00000535300.1_Intron|RABGGTB_ENST00000496055.1_Intron	NM_004582.3	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit						cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						GATTTAAGTTCTTTTTTGTTG	0.383																																																	0													14.0	15.0	15.0					1																	76252883		873	1987	2860	SO:0001627	intron_variant	5876			U49245	CCDS669.1	1p31	2008-02-05			ENSG00000137955	ENSG00000137955			9796	protein-coding gene	gene with protein product		179080				8706741, 8954794	Standard	NM_004582		Approved		uc001dgy.2	P53611	OTTHUMG00000009786	ENST00000319942.3:c.4-299C>T	1.37:g.76252883C>T			Q92697	RNA	SNP	-	NULL	ENST00000319942.3	37	NULL	CCDS669.1	1																																																																																			RABGGTB	-	-		0.383	RABGGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGGTB	HGNC	protein_coding	OTTHUMT00000026972.1	C	NM_004582		76252883	+1	no_errors	ENST00000471759	ensembl	human	known	70_37	rna	SNP	0.004	T
RABL2A	11159	genome.wustl.edu	37	2	114386172	114386172	+	5'UTR	SNP	A	A	G	rs1665303		TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr2:114386172A>G	ENST00000393167.3	+	0	214				RPL23AP7_ENST00000416673.2_RNA|RABL2A_ENST00000376439.3_5'UTR|RABL2A_ENST00000409875.1_5'UTR|RABL2A_ENST00000393165.3_5'UTR|RABL2A_ENST00000409842.1_5'UTR|RABL2A_ENST00000393166.3_5'UTR	NM_013412.2	NP_038198.1	Q9UBK7	RBL2A_HUMAN	RAB, member of RAS oncogene family-like 2A						GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(3)	9						CCCTCTCTACAGCTAGGAGCC	0.512																																																	0													10.0	11.0	11.0					2																	114386172		2112	4206	6318	SO:0001623	5_prime_UTR_variant	11159				CCDS2118.1	2q13	2014-05-09			ENSG00000144134	ENSG00000144134		"""RAB, member RAS oncogene"""	9799	protein-coding gene	gene with protein product		605412				10444334	Standard	NM_007082		Approved		uc010flb.3	Q9UBK7	OTTHUMG00000047828	ENST00000393167.3:c.-12A>G	2.37:g.114386172A>G			B7ZBD6|Q9NU37	RNA	SNP	-	NULL	ENST00000393167.3	37	NULL	CCDS2118.1	2																																																																																			RABL2A	-	-		0.512	RABL2A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	RABL2A	HGNC	protein_coding	OTTHUMT00000109047.2	A			114386172	+1	no_errors	ENST00000465711	ensembl	human	known	70_37	rna	SNP	0.000	G
RAPGEF6	51735	genome.wustl.edu	37	5	130883758	130883758	+	Silent	SNP	C	C	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr5:130883758C>T	ENST00000509018.1	-	6	682	c.477G>A	c.(475-477)gaG>gaA	p.E159E	RAPGEF6_ENST00000296859.6_Silent_p.E159E|RAPGEF6_ENST00000307984.5_Silent_p.E159E|RAPGEF6_ENST00000308008.6_Silent_p.E159E|RAPGEF6_ENST00000507093.1_Silent_p.E159E|RAPGEF6_ENST00000510071.1_Silent_p.E159E|CTC-432M15.3_ENST00000514667.1_Silent_p.E209E|RAPGEF6_ENST00000503398.2_5'Flank	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	159					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AGCTGTTAACCTCCACATCAT	0.328																																					Melanoma(168;435 1955 13113 13877 23213)												0													145.0	142.0	143.0					5																	130883758		2203	4300	6503	SO:0001819	synonymous_variant	51735			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.477G>A	5.37:g.130883758C>T			A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Silent	SNP	pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.E159	ENST00000509018.1	37	c.477	CCDS34225.1	5																																																																																			RAPGEF6	-	NULL		0.328	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF6	HGNC	protein_coding	OTTHUMT00000370059.1	C	NM_016340		130883758	-1	no_errors	ENST00000509018	ensembl	human	known	70_37	silent	SNP	0.460	T
REG1P	5969	genome.wustl.edu	37	2	79363999	79363999	+	RNA	SNP	C	C	G			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr2:79363999C>G	ENST00000444841.1	-	0	339									regenerating islet-derived 1 pseudogene																		AAGGCACCCTCAGCCTGGGTG	0.522																																																	0																																												5969					2p12	2008-06-04	2008-06-04	2008-06-04	ENSG00000204787	ENSG00000204787			9953	pseudogene	pseudogene			"""rat regenerating islet-derived-like, human homolog (pancreatic stone protein-like, pancreatic thread protein-like)"", ""regenerating islet-derived-like, pancreatic stone protein-like, pancreatic thread protein-like (rat)"""	REGL		8333731	Standard	NR_002714		Approved	RS	uc002soc.1		OTTHUMG00000152978		2.37:g.79363999C>G				RNA	SNP	-	NULL	ENST00000444841.1	37	NULL		2																																																																																			REG1P	-	-		0.522	REG1P-002	KNOWN	basic	processed_transcript	REG1P	HGNC	pseudogene	OTTHUMT00000328851.1	C	NR_002714		79363999	-1	no_errors	ENST00000377435	ensembl	human	known	70_37	rna	SNP	0.012	G
RGPD4	285190	genome.wustl.edu	37	2	108479165	108479165	+	Missense_Mutation	SNP	G	G	C	rs200602090	byFrequency	TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr2:108479165G>C	ENST00000408999.3	+	16	2310	c.2233G>C	c.(2233-2235)Gag>Cag	p.E745Q	RGPD4_ENST00000354986.4_Missense_Mutation_p.E745Q	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	745					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GTCTGTAAAAGAGATGCTTAA	0.338													-|||	794	0.158546	0.1127	0.1715	5008	,	,		10608	0.0179		0.2793	False		,,,				2504	0.2321																0													5.0	11.0	9.0					2																	108479165		394	1012	1406	SO:0001583	missense	285190			BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.2233G>C	2.37:g.108479165G>C	ENSP00000386810:p.Glu745Gln		B9A029	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.E745Q	ENST00000408999.3	37	c.2233	CCDS46381.1	2	.	.	.	.	.	.	.	.	.	.	-	6.720	0.501551	0.12822	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.24908	1.83;1.83	2.3	2.3	0.28687	.	.	.	.	.	T	0.22205	0.0535	M	0.62723	1.935	0.39301	P	0.03509899999999999	P	0.39022	0.655	B	0.27380	0.079	T	0.41052	-0.9530	8	0.49607	T	0.09	-11.6791	11.5619	0.50782	0.0:0.0:1.0:0.0	.	745	Q7Z3J3	RGPD4_HUMAN	Q	745;745;503	ENSP00000347081:E745Q;ENSP00000386810:E745Q	ENSP00000347081:E745Q	E	+	1	0	RGPD4	107845597	1.000000	0.71417	0.999000	0.59377	0.379000	0.30106	6.909000	0.75735	1.299000	0.44798	0.152000	0.16155	GAG	RGPD4	-	NULL		0.338	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	HGNC	protein_coding	OTTHUMT00000330096.2	G	XM_496581		108479165	+1	no_errors	ENST00000354986	ensembl	human	known	70_37	missense	SNP	1.000	C
RPRD2	23248	genome.wustl.edu	37	1	150413444	150413444	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr1:150413444G>T	ENST00000369068.4	+	3	385	c.381G>T	c.(379-381)tgG>tgT	p.W127C	RPRD2_ENST00000401000.4_Missense_Mutation_p.W127C|RPRD2_ENST00000539519.1_Missense_Mutation_p.W127C|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369067.3_Missense_Mutation_p.W127C	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	127	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TTAAAATCTGGGAAGATAGAA	0.338																																																	0													50.0	48.0	49.0					1																	150413444		1799	4056	5855	SO:0001583	missense	23248			BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.381G>T	1.37:g.150413444G>T	ENSP00000358064:p.Trp127Cys		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_RNA_polymerase_II_lsu_CTD	p.W127C	ENST00000369068.4	37	c.381	CCDS44216.1	1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.809357	0.70797	.	.	ENSG00000163125	ENST00000401000;ENST00000539519;ENST00000369067;ENST00000369068	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.33	5.33	0.75918	ENTH/VHS (2);RNA polymerase II, large subunit, CTD (2);Domain of unknown function DUF618 (1);	0.052699	0.85682	D	0.000000	D	0.95220	0.8450	M	0.93638	3.44	0.80722	D	1	P;P;D	0.89917	0.889;0.941;1.0	P;P;D	0.87578	0.847;0.887;0.998	D	0.95742	0.8784	10	0.87932	D	0	-4.7082	19.2171	0.93782	0.0:0.0:1.0:0.0	.	127;127;127	B4E2Q6;Q5VT52;Q5VT52-3	.;RPRD2_HUMAN;.	C	127	ENSP00000383785:W127C;ENSP00000445482:W127C;ENSP00000358063:W127C;ENSP00000358064:W127C	ENSP00000358063:W127C	W	+	3	0	RPRD2	148680068	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.133000	0.94460	2.771000	0.95319	0.650000	0.86243	TGG	RPRD2	-	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD		0.338	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPRD2	HGNC	protein_coding	OTTHUMT00000035844.1	G	NM_015203		150413444	+1	no_errors	ENST00000369068	ensembl	human	known	70_37	missense	SNP	1.000	T
RUVBL1	8607	genome.wustl.edu	37	3	127817765	127817765	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr3:127817765C>T	ENST00000322623.5	-	7	876	c.777G>A	c.(775-777)atG>atA	p.M259I	RUVBL1_ENST00000464873.1_Missense_Mutation_p.M199I|RUVBL1_ENST00000417360.1_Missense_Mutation_p.M259I	NM_003707.2	NP_003698.1	Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	259					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Ino80 complex (GO:0031011)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)			endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		GCTGGCCCATCATGGACAGGA	0.532																																																	0													158.0	134.0	142.0					3																	127817765		2203	4300	6503	SO:0001583	missense	8607			AF070735	CCDS3047.1	3q21	2013-09-12	2013-09-12		ENSG00000175792	ENSG00000175792		"""INO80 complex subunits"", ""ATPases / AAA-type"""	10474	protein-coding gene	gene with protein product	"""pontin"", ""INO80 complex subunit H"""	603449	"""RuvB (E coli homolog)-like 1"", ""RuvB-like 1 (E. coli)"", ""RuvB-like AAA ATPase"""			9774387, 9588198	Standard	NM_003707		Approved	TIP49, NMP238, RVB1, TIP49a, Pontin52, ECP54, TIH1, Rvb1, INO80H	uc003ekh.3	Q9Y265	OTTHUMG00000159658	ENST00000322623.5:c.777G>A	3.37:g.127817765C>T	ENSP00000318297:p.Met259Ile		B2R5S0|P82276|Q1KMR0|Q53HK5|Q53HL7|Q53Y27|Q9BSX9	Missense_Mutation	SNP	pfam_TIP49_C,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA_core,superfamily_NA-bd_OB-fold-like,smart_AAA+_ATPase	p.M259I	ENST00000322623.5	37	c.777	CCDS3047.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.82|16.82	3.229744|3.229744	0.58777|0.58777	.|.	.|.	ENSG00000175792|ENSG00000175792	ENST00000472125|ENST00000464873;ENST00000322623;ENST00000417360;ENST00000478892	.|T;T;T	.|0.62232	.|0.05;0.04;0.46	5.69|5.69	5.69|5.69	0.88448|0.88448	.|TIP49, C-terminal (1);ATPase, AAA+ type, core (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.53417|0.53417	0.1795|0.1795	N|N	0.25332|0.25332	0.735|0.735	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.12837	.|0.002;0.008;0.001	T|T	0.43081|0.43081	-0.9413|-0.9413	5|10	.|0.36615	.|T	.|0.2	-11.7387|-11.7387	19.8109|19.8109	0.96545|0.96545	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|259;259;199	.|Q9Y265-2;Q9Y265;E7ETR0	.|.;RUVB1_HUMAN;.	N|I	79|199;259;259;58	.|ENSP00000420738:M199I;ENSP00000318297:M259I;ENSP00000393755:M259I	.|ENSP00000318297:M259I	D|M	-|-	1|3	0|0	RUVBL1|RUVBL1	129300455|129300455	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.312000|7.312000	0.78968|0.78968	2.691000|2.691000	0.91804|0.91804	0.591000|0.591000	0.81541|0.81541	GAT|ATG	RUVBL1	-	pfam_TIP49_C,smart_AAA+_ATPase		0.532	RUVBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RUVBL1	HGNC	protein_coding	OTTHUMT00000356728.2	C			127817765	-1	no_errors	ENST00000322623	ensembl	human	known	70_37	missense	SNP	1.000	T
SAP130	79595	genome.wustl.edu	37	2	128774091	128774091	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr2:128774091G>A	ENST00000259235.3	-	4	586	c.457C>T	c.(457-459)Ccc>Tcc	p.P153S	SAP130_ENST00000259234.6_Missense_Mutation_p.P127S|SAP130_ENST00000357702.5_Missense_Mutation_p.P153S	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	153	Pro-rich.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		GGAGCAATGGGACGGCTAGGC	0.522																																																	0													97.0	97.0	97.0					2																	128774091		2203	4300	6503	SO:0001583	missense	79595			BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.457C>T	2.37:g.128774091G>A	ENSP00000259235:p.Pro153Ser		B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	NULL	p.P153S	ENST00000259235.3	37	c.457	CCDS2153.1	2	.	.	.	.	.	.	.	.	.	.	G	22.5	4.294748	0.81025	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234;ENST00000424298	.	.	.	6.07	6.07	0.98685	.	0.048670	0.85682	D	0.000000	T	0.64605	0.2613	L	0.27053	0.805	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.999;0.999	P;D;P	0.66351	0.898;0.943;0.898	T	0.55915	-0.8065	9	0.19147	T	0.46	-17.9101	20.6439	0.99570	0.0:0.0:1.0:0.0	.	153;127;153	B7ZLM3;Q96DP1;Q9H0E3	.;.;SP130_HUMAN	S	153;153;127;127	.	ENSP00000259234:P127S	P	-	1	0	SAP130	128490561	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.260000	0.95568	2.884000	0.98904	0.655000	0.94253	CCC	SAP130	-	NULL		0.522	SAP130-001	KNOWN	basic|CCDS	protein_coding	SAP130	HGNC	protein_coding	OTTHUMT00000254436.3	G	NM_024545		128774091	-1	no_errors	ENST00000357702	ensembl	human	known	70_37	missense	SNP	1.000	A
SBNO2	22904	genome.wustl.edu	37	19	1117401	1117401	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr19:1117401C>T	ENST00000361757.3	-	15	1862	c.1625G>A	c.(1624-1626)cGc>cAc	p.R542H	SBNO2_ENST00000587024.1_Missense_Mutation_p.R532H|SBNO2_ENST00000438103.2_Missense_Mutation_p.R485H	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	542					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		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)		CTTGAAGAAGCGCTGGTGTGC	0.672																																																	0													19.0	22.0	21.0					19																	1117401		2046	4191	6237	SO:0001583	missense	22904			AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.1625G>A	19.37:g.1117401C>T	ENSP00000354733:p.Arg542His		A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	NULL	p.R542H	ENST00000361757.3	37	c.1625	CCDS45894.1	19	.	.	.	.	.	.	.	.	.	.	C	33	5.290511	0.95546	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	T;T	0.50001	0.76;0.76	4.27	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.73450	0.3588	M	0.91140	3.18	0.80722	D	1	D;D;D	0.71674	0.979;0.997;0.998	P;P;D	0.65443	0.726;0.863;0.935	T	0.81457	-0.0924	10	0.87932	D	0	-37.333	16.1952	0.82023	0.0:1.0:0.0:0.0	.	542;542;485	B4DV91;Q9Y2G9;Q9Y2G9-3	.;SBNO2_HUMAN;.	H	542;485;566	ENSP00000354733:R542H;ENSP00000400762:R485H	ENSP00000250872:R566H	R	-	2	0	SBNO2	1068401	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.545000	0.82128	2.369000	0.80426	0.462000	0.41574	CGC	SBNO2	-	NULL		0.672	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO2	HGNC	protein_coding	OTTHUMT00000458065.2	C	NM_014963		1117401	-1	no_errors	ENST00000361757	ensembl	human	known	70_37	missense	SNP	1.000	T
SCNN1D	6339	genome.wustl.edu	37	1	1221039	1221039	+	Intron	SNP	G	G	A			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr1:1221039G>A	ENST00000338555.2	+	4	1210				SCNN1D_ENST00000379116.5_Missense_Mutation_p.G185S|SCNN1D_ENST00000400928.3_Intron|SCNN1D_ENST00000325425.8_Missense_Mutation_p.G87S			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit						ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	CTGCAAACAGGGCCAGGTAGG	0.627																																																	0													65.0	69.0	68.0					1																	1221039		692	1589	2281	SO:0001627	intron_variant	6339			U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10601	protein-coding gene	gene with protein product		601328	"""sodium channel, nonvoltage-gated 1, delta"", ""sodium channel, non-voltage-gated 1, delta"""			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.67-267G>A	1.37:g.1221039G>A			A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Missense_Mutation	SNP	pfam_Na+channel_ASC,superfamily_FH2_actin-bd,prints_Na+channel_ASC,tigrfam_EnaC	p.G185S	ENST00000338555.2	37	c.553		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	6.027|6.027	0.373439|0.373439	0.11409|0.11409	.|.	.|.	ENSG00000162572|ENSG00000162572	ENST00000379110|ENST00000379116;ENST00000325425	.|T;T	.|0.71461	.|-0.57;-0.46	1.47|1.47	-2.95|-2.95	0.05564|0.05564	.|.	714.353000|714.353000	0.00166|0.00166	N|N	0.000000|0.000000	T|T	0.51534|0.51534	0.1680|0.1680	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|P	.|0.49961	.|0.93	.|P	.|0.44477	.|0.451	T|T	0.48614|0.48614	-0.9020|-0.9020	7|10	0.10377|0.72032	T|D	0.69|0.01	.|.	3.8634|3.8634	0.09005|0.09005	0.0:0.2162:0.2884:0.4954|0.0:0.2162:0.2884:0.4954	.|.	.|185	.|A6NNF7	.|.	E|S	52|185;87	.|ENSP00000368411:G185S;ENSP00000321594:G87S	ENSP00000368404:G52E|ENSP00000321594:G87S	G|G	+|+	2|1	0|0	SCNN1D|SCNN1D	1210902|1210902	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.023000|0.023000	0.10783|0.10783	-0.840000|-0.840000	0.04363|0.04363	-0.836000|-0.836000	0.04229|0.04229	0.299000|0.299000	0.19835|0.19835	GGG|GGC	SCNN1D	-	NULL		0.627	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	SCNN1D	HGNC	protein_coding	OTTHUMT00000005802.2	G	NM_002978		1221039	+1	no_errors	ENST00000379116	ensembl	human	known	70_37	missense	SNP	0.000	A
SERPINB5	5268	genome.wustl.edu	37	18	61156662	61156662	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr18:61156662G>T	ENST00000382771.4	+	4	681	c.389G>T	c.(388-390)gGt>gTt	p.G130V	SERPINB5_ENST00000489441.1_Missense_Mutation_p.G130V	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	130					cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelium (GO:0002009)|negative regulation of endopeptidase activity (GO:0010951)|prostate gland morphogenesis (GO:0060512)|regulation of epithelial cell proliferation (GO:0050678)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						GAAACGAAAGGTCAGATCAAC	0.393																																																	0													124.0	116.0	119.0					18																	61156662		2203	4300	6503	SO:0001583	missense	5268			U04313	CCDS32839.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206075	ENSG00000206075		"""Serine (or cysteine) peptidase inhibitors"""	8949	protein-coding gene	gene with protein product	"""protease inhibitor 5 (maspin)"""	154790	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5"""	PI5		8290962, 7724531, 16720730, 24172014	Standard	NM_002639		Approved	maspin	uc002liz.4	P36952	OTTHUMG00000141307	ENST00000382771.4:c.389G>T	18.37:g.61156662G>T	ENSP00000372221:p.Gly130Val		B2R6Y4|Q6N0B4|Q8WW89	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin	p.G130V	ENST00000382771.4	37	c.389	CCDS32839.1	18	.	.	.	.	.	.	.	.	.	.	G	10.32	1.317383	0.23908	.	.	ENSG00000206075	ENST00000382771	D	0.84223	-1.82	5.75	0.762	0.18454	Serpin domain (3);	1.075970	0.06976	N	0.818927	T	0.75671	0.3881	L	0.39245	1.2	0.19575	N	0.999969	B;B	0.17268	0.001;0.021	B;B	0.10450	0.005;0.004	T	0.59920	-0.7363	10	0.46703	T	0.11	.	0.5872	0.00721	0.2603:0.1205:0.2484:0.3708	.	130;130	P36952;P36952-2	SPB5_HUMAN;.	V	130	ENSP00000372221:G130V	ENSP00000372221:G130V	G	+	2	0	SERPINB5	59307642	0.008000	0.16893	0.387000	0.26183	0.983000	0.72400	0.166000	0.16583	0.130000	0.18549	0.655000	0.94253	GGT	SERPINB5	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin		0.393	SERPINB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB5	HGNC	protein_coding	OTTHUMT00000280629.1	G	NM_002639		61156662	+1	no_errors	ENST00000382771	ensembl	human	known	70_37	missense	SNP	0.001	T
SH2D7	646892	genome.wustl.edu	37	15	78385042	78385042	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr15:78385042C>A	ENST00000328828.5	+	1	116	c.116C>A	c.(115-117)gCc>gAc	p.A39D	SNORA63_ENST00000362763.1_RNA|SH2D7_ENST00000409568.2_Intron	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	39										endometrium(2)|kidney(2)|lung(3)	7						GAGACACAGGCCCCCTTCATT	0.607																																																	0													39.0	43.0	41.0					15																	78385042		1996	4153	6149	SO:0001583	missense	646892				CCDS45315.1	15q25.1	2013-02-14			ENSG00000183476	ENSG00000183476		"""SH2 domain containing"""	34549	protein-coding gene	gene with protein product							Standard	NM_001101404		Approved	LOC646892	uc010blb.1	A6NKC9	OTTHUMG00000154271	ENST00000328828.5:c.116C>A	15.37:g.78385042C>A	ENSP00000327846:p.Ala39Asp			Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.A39D	ENST00000328828.5	37	c.116	CCDS45315.1	15	.	.	.	.	.	.	.	.	.	.	C	24.3	4.520846	0.85495	.	.	ENSG00000183476	ENST00000328828	T	0.33654	1.4	5.49	5.49	0.81192	.	.	.	.	.	T	0.46776	0.1410	L	0.27053	0.805	0.34963	D	0.752419	D	0.89917	1.0	D	0.85130	0.997	T	0.54070	-0.8348	9	0.37606	T	0.19	.	14.8627	0.70392	0.0:1.0:0.0:0.0	.	39	A6NKC9	SH2D7_HUMAN	D	39	ENSP00000327846:A39D	ENSP00000327846:A39D	A	+	2	0	SH2D7	76172097	0.953000	0.32496	1.000000	0.80357	0.985000	0.73830	2.007000	0.40883	2.568000	0.86640	0.655000	0.94253	GCC	SH2D7	-	NULL		0.607	SH2D7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SH2D7	HGNC	protein_coding	OTTHUMT00000334660.2	C	NM_001101404		78385042	+1	no_errors	ENST00000328828	ensembl	human	novel	70_37	missense	SNP	1.000	A
SLC19A3	80704	genome.wustl.edu	37	2	228563510	228563510	+	Silent	SNP	C	C	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr2:228563510C>T	ENST00000258403.3	-	3	992	c.921G>A	c.(919-921)gcG>gcA	p.A307A	SLC19A3_ENST00000541617.1_Silent_p.A303A|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	307					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	CTTGGGATGGCGCCTTGTAAT	0.448																																																	0													69.0	71.0	70.0					2																	228563510		2203	4300	6503	SO:0001819	synonymous_variant	80704			AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"""Solute carriers"""	16266	protein-coding gene	gene with protein product	"""thiamine transporter 2"""	606152	"""solute carrier family 19, member 3"""			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.921G>A	2.37:g.228563510C>T				Silent	SNP	pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier	p.A307	ENST00000258403.3	37	c.921	CCDS2468.1	2																																																																																			SLC19A3	-	pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier		0.448	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC19A3	HGNC	protein_coding	OTTHUMT00000256894.1	C			228563510	-1	no_errors	ENST00000258403	ensembl	human	known	70_37	silent	SNP	0.991	T
SLC6A8	6535	genome.wustl.edu	37	X	152957007	152957007	+	Splice_Site	SNP	G	G	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chrX:152957007G>T	ENST00000253122.5	+	3	1119	c.643G>T	c.(643-645)Gag>Tag	p.E215*	SLC6A8_ENST00000430077.2_Splice_Site_p.E100*	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	215					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	CGAGTTCTGGGAGTGAGTCCG	0.647																																																	0													99.0	99.0	99.0					X																	152957007		2203	4300	6503	SO:0001630	splice_region_variant	6535				CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"""Solute carriers"""	11055	protein-coding gene	gene with protein product	"""creatine transporter"""	300036	"""solute carrier family 6 (neurotransmitter transporter, creatine), member 8"""			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.644+1G>T	X.37:g.152957007G>T			B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Nonsense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_creatine	p.E215*	ENST00000253122.5	37	c.643	CCDS14726.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	38|38	6.933262|6.933262	0.97944|0.97944	.|.	.|.	ENSG00000130821|ENSG00000130821	ENST00000253122;ENST00000430077|ENST00000429147	.|.	.|.	.|.	3.83|3.83	3.83|3.83	0.44106|0.44106	.|.	.|.	.|.	.|.	.|.	.|T	.|0.62865	.|0.2463	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70828	.|-0.4766	.|3	0.51188|.	T|.	0.08|.	.|.	13.8696|13.8696	0.63610|0.63610	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|V	215;100|31	.|.	ENSP00000253122:E215X|.	E|G	+|+	1|2	0|0	SLC6A8|SLC6A8	152610201|152610201	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.844000|0.844000	0.47949|0.47949	7.598000|7.598000	0.82745|0.82745	1.751000|1.751000	0.51876|0.51876	0.436000|0.436000	0.28706|0.28706	GAG|GGA	SLC6A8	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.647	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A8	HGNC	protein_coding	OTTHUMT00000061003.1	G		Nonsense_Mutation	152957007	+1	no_errors	ENST00000253122	ensembl	human	known	70_37	nonsense	SNP	1.000	T
SNRPD1	6632	genome.wustl.edu	37	18	19203860	19203860	+	Silent	SNP	G	G	C			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr18:19203860G>C	ENST00000300413.5	+	3	406	c.243G>C	c.(241-243)gtG>gtC	p.V81V	SNRPD1_ENST00000579618.1_Missense_Mutation_p.W39S|SNRPD1_ENST00000582475.1_Silent_p.V37V	NM_006938.2	NP_008869.1	P62314	SMD1_HUMAN	small nuclear ribonucleoprotein D1 polypeptide 16kDa	81					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			lung(2)|prostate(1)	3						CACTACTTGTGGATGTTGAAC	0.368																																																	0													60.0	56.0	57.0					18																	19203860		2203	4300	6503	SO:0001819	synonymous_variant	6632			L36188	CCDS32801.1	18q11.2	2011-10-11	2002-08-29		ENSG00000167088	ENSG00000167088			11158	protein-coding gene	gene with protein product		601063	"""small nuclear ribonucleoprotein D1 polypeptide (16kD)"""	SNRPD		7527560, 1701240	Standard	NM_006938		Approved	HsT2456, Sm-D1	uc002ktj.1	P62314		ENST00000300413.5:c.243G>C	18.37:g.19203860G>C			B5BTZ1|P13641	Missense_Mutation	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom	p.W39S	ENST00000300413.5	37	c.116	CCDS32801.1	18																																																																																			SNRPD1	-	NULL		0.368	SNRPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRPD1	HGNC	protein_coding	OTTHUMT00000444020.2	G	NM_006938		19203860	+1	no_errors	ENST00000579618	ensembl	human	putative	70_37	missense	SNP	1.000	C
SPECC1L	23384	genome.wustl.edu	37	22	24698198	24698198	+	5'UTR	SNP	G	G	C	rs200111946		TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr22:24698198G>C	ENST00000314328.9	+	0	284				SPECC1L-ADORA2A_ENST00000358654.2_5'UTR|SPECC1L_ENST00000416735.1_3'UTR|SPECC1L_ENST00000437398.1_5'UTR|SPECC1L_ENST00000541492.1_5'UTR	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like						actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						AGGCAGCCCAGAATGAAGAAA	0.398																																																	0													66.0	60.0	62.0					22																	24698198		2203	4300	6503	SO:0001623	5_prime_UTR_variant	23384			AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"""cytokinesis and spindle organization A"", ""cytospin A"""	614140	"""SPECC1-like"""			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.-2G>C	22.37:g.24698198G>C			B7Z758|F5H1H6|O15081	RNA	SNP	-	NULL	ENST00000314328.9	37	NULL	CCDS33619.1	22	.	.	.	.	.	.	.	.	.	.	.	17.79	3.476170	0.63737	.	.	ENSG00000100014	ENST00000398280	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	T	0.72622	0.3483	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68918	-0.5282	5	0.32370	T	0.25	.	18.3166	0.90223	0.0:0.0:1.0:0.0	.	.	.	.	T	28	.	ENSP00000381328:R28T	R	+	2	0	SPECC1L	23028198	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.046000	0.71029	2.643000	0.89663	0.655000	0.94253	AGA	SPECC1L	-	-		0.398	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPECC1L	HGNC	protein_coding	OTTHUMT00000319986.2	G	NM_015330		24698198	+1	no_errors	ENST00000416735	ensembl	human	known	70_37	rna	SNP	1.000	C
SPRY3	10251	genome.wustl.edu	37	X	155003760	155003760	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chrX:155003760C>T	ENST00000302805.2	+	2	658	c.227C>T	c.(226-228)cCt>cTt	p.P76L		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	76					multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CAGCCCTTGCCTCAGCATCTG	0.542																																																	0													238.0	200.0	213.0					X																	155003760		2203	4296	6499	SO:0001583	missense	10251			AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"""Pseudoautosomal regions / PAR2"""	11271	protein-coding gene	gene with protein product	"""antagonist of FGF signaling"""	300531	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.227C>T	X.37:g.155003760C>T	ENSP00000302978:p.Pro76Leu		A8K0H8	Missense_Mutation	SNP	pfam_Sprouty	p.P76L	ENST00000302805.2	37	c.227	CCDS14769.4	X	.	.	.	.	.	.	.	.	.	.	C	9.875	1.199918	0.22121	.	.	ENSG00000168939	ENST00000302805;ENST00000369437	T	0.54866	0.55	3.14	3.14	0.36123	.	0.324210	0.28736	N	0.014317	T	0.31136	0.0787	.	.	.	0.09310	N	1	B;B	0.16166	0.016;0.009	B;B	0.06405	0.002;0.001	T	0.09422	-1.0675	9	0.20519	T	0.43	-26.0596	7.098	0.25321	0.2681:0.7318:0.0:0.0	.	76;76	Q6ZUP3;O43610	.;SPY3_HUMAN	L	76	ENSP00000302978:P76L	ENSP00000302978:P76L	P	+	2	0	SPRY3	154656954	0.137000	0.22531	1.000000	0.80357	0.980000	0.70556	0.730000	0.26043	1.593000	0.50029	0.279000	0.19357	CCT	SPRY3	-	NULL		0.542	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRY3	HGNC	protein_coding	OTTHUMT00000058823.2	C	NM_005840		155003760	+1	no_errors	ENST00000302805	ensembl	human	known	70_37	missense	SNP	0.998	T
SPTLC1	10558	genome.wustl.edu	37	9	94830364	94830364	+	Silent	SNP	C	C	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr9:94830364C>T	ENST00000262554.2	-	6	449	c.444G>A	c.(442-444)ttG>ttA	p.L148L	SPTLC1_ENST00000482632.1_5'UTR	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	148					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	GGCGGTCTTCCAAATCCAAAT	0.338																																																	0													77.0	79.0	79.0					9																	94830364		2203	4300	6503	SO:0001819	synonymous_variant	10558			Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"""hereditary sensory neuropathy, type 1"""	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.444G>A	9.37:g.94830364C>T			A8K681|Q5VWB4|Q96IX6	Silent	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.L148	ENST00000262554.2	37	c.444	CCDS6692.1	9																																																																																			SPTLC1	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom		0.338	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTLC1	HGNC	protein_coding	OTTHUMT00000055553.1	C	NM_006415		94830364	-1	no_errors	ENST00000262554	ensembl	human	known	70_37	silent	SNP	1.000	T
STK32B	55351	genome.wustl.edu	37	4	5458637	5458637	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr4:5458637C>G	ENST00000282908.5	+	8	1192	c.770C>G	c.(769-771)gCc>gGc	p.A257G	STK32B_ENST00000510398.1_Missense_Mutation_p.A210G|RN7SKP275_ENST00000364626.1_RNA|STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000512636.1_Missense_Mutation_p.A180G	NM_018401.1	NP_060871.1			serine/threonine kinase 32B											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						GGGATGGTGGCCCTGCTGAGG	0.572																																																	0													77.0	55.0	63.0					4																	5458637		2203	4300	6503	SO:0001583	missense	55351			AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.770C>G	4.37:g.5458637C>G	ENSP00000282908:p.Ala257Gly			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.A257G	ENST00000282908.5	37	c.770	CCDS3380.1	4	.	.	.	.	.	.	.	.	.	.	C	13.49	2.253986	0.39896	.	.	ENSG00000152953	ENST00000282908;ENST00000512636;ENST00000510398	T;T;T	0.24538	1.85;1.85;1.85	5.01	3.26	0.37387	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.166261	0.27807	U	0.017778	T	0.16685	0.0401	L	0.27053	0.805	0.38235	D	0.94115	B	0.06786	0.001	B	0.10450	0.005	T	0.08207	-1.0733	10	0.30078	T	0.28	.	9.2809	0.37727	0.1438:0.7781:0.0:0.0781	.	257	Q9NY57	ST32B_HUMAN	G	257;180;210	ENSP00000282908:A257G;ENSP00000423209:A180G;ENSP00000420984:A210G	ENSP00000282908:A257G	A	+	2	0	STK32B	5509538	0.744000	0.28250	0.995000	0.50966	0.791000	0.44710	3.784000	0.55416	0.604000	0.29930	-0.254000	0.11334	GCC	STK32B	-	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		0.572	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK32B	HGNC	protein_coding	OTTHUMT00000206854.4	C	NM_018401		5458637	+1	no_errors	ENST00000282908	ensembl	human	known	70_37	missense	SNP	0.996	G
SYMPK	8189	genome.wustl.edu	37	19	46331136	46331136	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr19:46331136C>T	ENST00000245934.7	-	15	2270	c.2026G>A	c.(2026-2028)Gag>Aag	p.E676K	AC092301.3_ENST00000601618.1_RNA	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	676					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		AGGGCACTCTCTGTGATGAGT	0.672																																																	0													103.0	102.0	102.0					19																	46331136		2203	4300	6503	SO:0001583	missense	8189			U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.2026G>A	19.37:g.46331136C>T	ENSP00000245934:p.Glu676Lys		O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold	p.E676K	ENST00000245934.7	37	c.2026	CCDS12676.2	19	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403871	0.83230	.	.	ENSG00000125755	ENST00000245934	T	0.34667	1.35	5.46	5.46	0.80206	Armadillo-type fold (1);	0.237415	0.42294	D	0.000735	T	0.31513	0.0799	L	0.43923	1.385	0.58432	D	0.999996	P;B	0.37122	0.583;0.004	B;B	0.29785	0.107;0.004	T	0.16958	-1.0385	10	0.62326	D	0.03	.	16.8671	0.86032	0.0:1.0:0.0:0.0	.	691;676	Q4LE61;Q92797	.;SYMPK_HUMAN	K	676	ENSP00000245934:E676K	ENSP00000245934:E676K	E	-	1	0	SYMPK	51022976	1.000000	0.71417	0.974000	0.42286	0.981000	0.71138	7.495000	0.81514	2.591000	0.87537	0.650000	0.86243	GAG	SYMPK	-	superfamily_ARM-type_fold		0.672	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYMPK	HGNC	protein_coding	OTTHUMT00000316581.1	C	NM_004819		46331136	-1	no_errors	ENST00000245934	ensembl	human	known	70_37	missense	SNP	1.000	T
TAS1R3	83756	genome.wustl.edu	37	1	1268706	1268706	+	Missense_Mutation	SNP	C	C	G	rs200421419		TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr1:1268706C>G	ENST00000339381.5	+	5	1579	c.1547C>G	c.(1546-1548)tCc>tGc	p.S516C		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	516					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		GGGTTCCACTCCTGCTGCTAC	0.711																																																	0													24.0	26.0	26.0					1																	1268706		2188	4291	6479	SO:0001583	missense	83756			AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.1547C>G	1.37:g.1268706C>G	ENSP00000344411:p.Ser516Cys		Q5TA49|Q8NGW9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3	p.S516C	ENST00000339381.5	37	c.1547	CCDS30556.1	1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.784005	0.70222	.	.	ENSG00000169962	ENST00000339381	D	0.90261	-2.64	4.42	4.42	0.53409	GPCR, family 3, nine cysteines domain (1);	0.139798	0.49305	D	0.000142	D	0.95290	0.8472	M	0.92459	3.31	0.40801	D	0.983345	D	0.89917	1.0	D	0.81914	0.995	D	0.94841	0.8005	10	0.49607	T	0.09	.	6.7958	0.23725	0.0:0.8332:0.0:0.1668	.	516	Q7RTX0	TS1R3_HUMAN	C	516	ENSP00000344411:S516C	ENSP00000344411:S516C	S	+	2	0	TAS1R3	1258569	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.991000	0.56973	2.018000	0.59344	0.456000	0.33151	TCC	TAS1R3	-	pfam_GPCR_3_9-Cys_dom		0.711	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS1R3	HGNC	protein_coding	OTTHUMT00000008493.1	C			1268706	+1	no_errors	ENST00000339381	ensembl	human	known	70_37	missense	SNP	1.000	G
TEX2	55852	genome.wustl.edu	37	17	62291462	62291462	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr17:62291462G>A	ENST00000583097.1	-	2	288	c.116C>T	c.(115-117)tCg>tTg	p.S39L	TEX2_ENST00000584379.1_Missense_Mutation_p.S39L|TEX2_ENST00000258991.3_Missense_Mutation_p.S39L			Q8IWB9	TEX2_HUMAN	testis expressed 2	39					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GCCGGATGCCGAGAAGTGAAT	0.567																																																	0													106.0	97.0	100.0					17																	62291462		2203	4300	6503	SO:0001583	missense	55852			AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.116C>T	17.37:g.62291462G>A	ENSP00000462665:p.Ser39Leu		Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	pfam_DUF2404	p.S39L	ENST00000583097.1	37	c.116		17	.	.	.	.	.	.	.	.	.	.	G	12.77	2.038795	0.35989	.	.	ENSG00000136478	ENST00000258991	T	0.55588	0.51	5.07	4.06	0.47325	.	0.076828	0.53938	N	0.000047	T	0.41926	0.1180	L	0.36672	1.1	0.58432	D	0.999997	B;B	0.26081	0.141;0.087	B;B	0.17098	0.017;0.008	T	0.35943	-0.9768	10	0.62326	D	0.03	-1.9717	12.0708	0.53616	0.0889:0.0:0.9111:0.0	.	39;39	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	L	39	ENSP00000258991:S39L	ENSP00000258991:S39L	S	-	2	0	TEX2	59645194	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.596000	0.82721	1.064000	0.40671	0.305000	0.20034	TCG	TEX2	-	NULL		0.567	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	TEX2	HGNC	protein_coding	OTTHUMT00000443745.1	G	NM_018469		62291462	-1	no_errors	ENST00000258991	ensembl	human	known	70_37	missense	SNP	1.000	A
TMC6	11322	genome.wustl.edu	37	17	76121965	76121965	+	Splice_Site	SNP	C	C	A			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr17:76121965C>A	ENST00000590602.1	-	5	431	c.272G>T	c.(271-273)gGc>gTc	p.G91V	TMC6_ENST00000592076.1_5'Flank|TMC6_ENST00000322933.4_5'UTR|TMC6_ENST00000589553.1_5'UTR|TMC6_ENST00000322914.3_Splice_Site_p.G91V|TMC6_ENST00000392467.3_Splice_Site_p.G91V|TMC6_ENST00000306591.7_Splice_Site_p.G91V			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	91					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TCGGCTGCGGCCTATGGAGGC	0.701																																																	0													15.0	16.0	16.0					17																	76121965		2014	3965	5979	SO:0001630	splice_region_variant	11322			AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"""epidermodysplasia verruciformis 1"""	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.272-1G>T	17.37:g.76121965C>A			O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Missense_Mutation	SNP	pfam_TMC	p.G91V	ENST00000590602.1	37	c.272	CCDS32748.1	17	.	.	.	.	.	.	.	.	.	.	c	20.1	3.939307	0.73557	.	.	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000306591	T;T;T	0.53640	0.61;0.61;0.61	3.84	3.84	0.44239	.	6.253290	0.00397	U	0.000053	T	0.71962	0.3402	M	0.68952	2.095	0.80722	D	1	D;D	0.71674	0.998;0.994	D;P	0.70016	0.967;0.826	T	0.54255	-0.8321	10	0.87932	D	0	.	15.3687	0.74545	0.0:1.0:0.0:0.0	.	91;91	Q7Z403-2;Q7Z403	.;TMC6_HUMAN	V	91	ENSP00000313408:G91V;ENSP00000376260:G91V;ENSP00000306405:G91V	ENSP00000306405:G91V	G	-	2	0	TMC6	73633560	1.000000	0.71417	0.995000	0.50966	0.570000	0.35934	5.008000	0.63991	1.691000	0.51100	0.556000	0.70494	GGC	TMC6	-	NULL		0.701	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMC6	HGNC	protein_coding	OTTHUMT00000437146.1	C		Missense_Mutation	76121965	-1	no_errors	ENST00000322914	ensembl	human	known	70_37	missense	SNP	1.000	A
TMEM175	84286	genome.wustl.edu	37	4	952031	952031	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr4:952031C>A	ENST00000264771.4	+	11	1447	c.1262C>A	c.(1261-1263)gCc>gAc	p.A421D	TMEM175_ENST00000508204.1_Missense_Mutation_p.A339D|TMEM175_ENST00000515740.1_Missense_Mutation_p.A305D	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	421						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CTCATGTTCGCCAAGCTGGCG	0.652																																																	0													50.0	46.0	47.0					4																	952031		2203	4300	6503	SO:0001583	missense	84286			BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.1262C>A	4.37:g.952031C>A	ENSP00000264771:p.Ala421Asp		D3DVN4|Q8ND13	Missense_Mutation	SNP	pfam_DUF1211_TMEM175	p.A421D	ENST00000264771.4	37	c.1262	CCDS3341.1	4	.	.	.	.	.	.	.	.	.	.	C	13.24	2.179226	0.38511	.	.	ENSG00000127419	ENST00000264771;ENST00000515740;ENST00000508204	T;T;T	0.52754	1.28;1.23;0.65	4.65	3.79	0.43588	.	0.065062	0.64402	D	0.000010	T	0.63815	0.2543	M	0.68952	2.095	0.49915	D	0.999839	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.991	T	0.64305	-0.6439	10	0.56958	D	0.05	-6.9972	10.6642	0.45719	0.0:0.805:0.195:0.0	.	339;421	D3DVN5;Q9BSA9	.;TM175_HUMAN	D	421;305;339	ENSP00000264771:A421D;ENSP00000427039:A305D;ENSP00000423669:A339D	ENSP00000264771:A421D	A	+	2	0	TMEM175	942031	1.000000	0.71417	1.000000	0.80357	0.002000	0.02628	4.486000	0.60286	0.921000	0.36994	-0.479000	0.04858	GCC	TMEM175	-	NULL		0.652	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM175	HGNC	protein_coding	OTTHUMT00000239193.2	C	NM_032326		952031	+1	no_errors	ENST00000264771	ensembl	human	known	70_37	missense	SNP	1.000	A
TTC21A	199223	genome.wustl.edu	37	3	39178360	39178360	+	Intron	SNP	C	C	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr3:39178360C>T	ENST00000431162.2	+	24	3250				TTC21A_ENST00000301819.6_Intron|TTC21A_ENST00000493856.1_Intron|TTC21A_ENST00000440121.1_Intron			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A											NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		cagtttccCTCACTGATTCTT	0.547																																																	0													68.0	69.0	69.0					3																	39178360		2028	4183	6211	SO:0001627	intron_variant	199223			AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.3117-30C>T	3.37:g.39178360C>T			A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	RNA	SNP	-	NULL	ENST00000431162.2	37	NULL	CCDS46800.1	3																																																																																			TTC21A	-	-		0.547	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC21A	HGNC	protein_coding	OTTHUMT00000377829.1	C	NM_145755		39178360	+1	no_errors	ENST00000490245	ensembl	human	putative	70_37	rna	SNP	0.000	T
TULP4	56995	genome.wustl.edu	37	6	158923338	158923338	+	Silent	SNP	C	C	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr6:158923338C>T	ENST00000367097.3	+	13	4000	c.2643C>T	c.(2641-2643)acC>acT	p.T881T	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	881					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		ACTACCAGACCCCCCTGGGCT	0.652																																																	0													64.0	67.0	66.0					6																	158923338		2203	4300	6503	SO:0001819	synonymous_variant	56995				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.2643C>T	6.37:g.158923338C>T			Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T881	ENST00000367097.3	37	c.2643	CCDS34561.1	6																																																																																			TULP4	-	NULL		0.652	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP4	HGNC	protein_coding	OTTHUMT00000042869.1	C	NM_020245		158923338	+1	no_errors	ENST00000367097	ensembl	human	known	70_37	silent	SNP	0.998	T
USP7	7874	genome.wustl.edu	37	16	9017100	9017100	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr16:9017100G>C	ENST00000344836.4	-	3	553	c.355C>G	c.(355-357)Ctc>Gtc	p.L119V	USP7_ENST00000381886.4_Missense_Mutation_p.L103V|USP7_ENST00000566224.1_5'Flank|USP7_ENST00000535863.1_Missense_Mutation_p.L20V	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	119	Interaction with TSPYL5.|Interaction with p53/TP53, MDM2 and EBNA1.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Necessary for nuclear localization.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TTGCACTGGAGAAAGAATCCT	0.418																																																	0													173.0	164.0	167.0					16																	9017100		2197	4300	6497	SO:0001583	missense	7874			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.355C>G	16.37:g.9017100G>C	ENSP00000343535:p.Leu119Val		A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_MATH,pfam_Pept_C19_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19	p.L119V	ENST00000344836.4	37	c.355	CCDS32385.1	16	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016179	0.75161	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549;ENST00000542333	T;T;T	0.80304	-1.36;-1.36;-1.36	5.57	5.57	0.84162	TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	D	0.87358	0.6157	M	0.72479	2.2	0.80722	D	1	D;D	0.57899	0.981;0.981	P;P	0.55508	0.777;0.777	D	0.87441	0.2395	10	0.56958	D	0.05	.	19.9295	0.97114	0.0:0.0:1.0:0.0	.	119;103	Q93009;B7Z815	UBP7_HUMAN;.	V	119;127;20;20;61	ENSP00000343535:L119V;ENSP00000443646:L20V;ENSP00000439272:L61V	ENSP00000343535:L119V	L	-	1	0	USP7	8924601	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.793000	0.85851	2.793000	0.96121	0.655000	0.94253	CTC	USP7	-	pfam_MATH,superfamily_TRAF-like,smart_MATH,pfscan_MATH		0.418	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP7	HGNC	protein_coding	OTTHUMT00000434268.2	G			9017100	-1	no_errors	ENST00000344836	ensembl	human	known	70_37	missense	SNP	1.000	C
VANGL2	57216	genome.wustl.edu	37	1	160390959	160390959	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr1:160390959T>C	ENST00000368061.2	+	6	1529	c.1055T>C	c.(1054-1056)gTg>gCg	p.V352A	VANGL2_ENST00000483408.1_3'UTR	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	352					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAGCGAAGGGTGCGCAAGAGG	0.587																																																	0													65.0	57.0	60.0					1																	160390959		2203	4300	6503	SO:0001583	missense	57216			AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"""vang, van gogh-like 2"", ""loop-tail-associated protein"", ""strabismus"""	600533	"""vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)"", ""vang-like 2 (van gogh, Drosophila)"""			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.1055T>C	1.37:g.160390959T>C	ENSP00000357040:p.Val352Ala		D3DVE9|Q5T212	Missense_Mutation	SNP	pfam_Strabismus,pirsf_Strabismus	p.V352A	ENST00000368061.2	37	c.1055	CCDS30915.1	1	.	.	.	.	.	.	.	.	.	.	T	32	5.122134	0.94429	.	.	ENSG00000162738	ENST00000368061	D	0.85013	-1.93	5.48	5.48	0.80851	.	0.064076	0.64402	D	0.000008	D	0.84338	0.5450	M	0.88181	2.935	0.58432	D	0.999999	B	0.33000	0.393	B	0.34652	0.187	D	0.87248	0.2271	10	0.87932	D	0	-22.8245	14.378	0.66892	0.0:0.0:0.0:1.0	.	352	Q9ULK5	VANG2_HUMAN	A	352	ENSP00000357040:V352A	ENSP00000357040:V352A	V	+	2	0	VANGL2	158657583	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.627000	0.83176	2.081000	0.62600	0.533000	0.62120	GTG	VANGL2	-	pfam_Strabismus,pirsf_Strabismus		0.587	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VANGL2	HGNC	protein_coding	OTTHUMT00000080677.1	T	NM_020335		160390959	+1	no_errors	ENST00000368061	ensembl	human	known	70_37	missense	SNP	1.000	C
VAV2	7410	genome.wustl.edu	37	9	136649441	136649441	+	Silent	SNP	G	G	C			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr9:136649441G>C	ENST00000371850.3	-	18	1663	c.1632C>G	c.(1630-1632)ctC>ctG	p.L544L	VAV2_ENST00000371851.1_Silent_p.L534L|VAV2_ENST00000406606.3_Silent_p.L534L	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	544					angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		TCCCACACCTGAGGAACATTT	0.547																																																	0													329.0	292.0	305.0					9																	136649441		2203	4300	6503	SO:0001819	synonymous_variant	7410				CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12658	protein-coding gene	gene with protein product		600428	"""vav 2 oncogene"""			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.1632C>G	9.37:g.136649441G>C			A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Silent	SNP	pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain	p.L544	ENST00000371850.3	37	c.1632	CCDS48053.1	9																																																																																			VAV2	-	pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd		0.547	VAV2-001	KNOWN	basic|CCDS	protein_coding	VAV2	HGNC	protein_coding	OTTHUMT00000054939.1	G			136649441	-1	no_errors	ENST00000371850	ensembl	human	known	70_37	silent	SNP	1.000	C
VAV3	10451	genome.wustl.edu	37	1	108292200	108292200	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr1:108292200C>G	ENST00000370056.4	-	14	1550	c.1276G>C	c.(1276-1278)Gat>Cat	p.D426H	VAV3_ENST00000527011.1_Missense_Mutation_p.D426H|VAV3_ENST00000371846.4_Missense_Mutation_p.D361H|VAV3_ENST00000343258.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	426	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)		ACTGCCAAATCAAATAAGAAG	0.318																																																	0													105.0	95.0	99.0					1																	108292200		2202	4296	6498	SO:0001583	missense	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.1276G>C	1.37:g.108292200C>G	ENSP00000359073:p.Asp426His		B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain,prints_SM22_calponin	p.D426H	ENST00000370056.4	37	c.1276	CCDS785.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.4|23.4	4.409729|4.409729	0.83340|0.83340	.|.	.|.	ENSG00000134215|ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000371846|ENST00000490388	D;D;D|.	0.90385|.	-2.66;-2.66;-2.66|.	5.83|5.83	5.83|5.83	0.93111|0.93111	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.099226|.	0.64402|.	D|.	0.000002|.	T|T	0.78329|0.78329	0.4266|0.4266	M|M	0.79123|0.79123	2.44|2.44	0.80722|0.80722	D|D	1|1	P;D;D;P|.	0.89917|.	0.927;0.999;1.0;0.783|.	D;D;D;D|.	0.87578|.	0.929;0.996;0.998;0.915|.	T|T	0.76854|0.76854	-0.2805|-0.2805	10|5	0.87932|.	D|.	0|.	.|.	20.1356|20.1356	0.98028|0.98028	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	426;426;361;426|.	B7ZLR1;E9PQ97;B4DHL6;Q9UKW4|.	.;.;.;VAV3_HUMAN|.	H|F	426;426;361|420	ENSP00000359073:D426H;ENSP00000432540:D426H;ENSP00000360912:D361H|.	ENSP00000359073:D426H|.	D|L	-|-	1|3	0|2	VAV3|VAV3	108093723|108093723	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	7.487000|7.487000	0.81328|0.81328	2.755000|2.755000	0.94549|0.94549	0.650000|0.650000	0.86243|0.86243	GAT|TTG	VAV3	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.318	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAV3	HGNC	protein_coding	OTTHUMT00000030242.2	C	NM_006113		108292200	-1	no_errors	ENST00000370056	ensembl	human	known	70_37	missense	SNP	1.000	G
VCAN	1462	genome.wustl.edu	37	5	82807996	82807996	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr5:82807996G>T	ENST00000265077.3	+	6	1388	c.823G>T	c.(823-825)Gcc>Tcc	p.A275S	VCAN_ENST00000342785.4_Missense_Mutation_p.A275S|VCAN_ENST00000512590.2_Missense_Mutation_p.A227S|VCAN_ENST00000513984.1_Missense_Mutation_p.A275S|VCAN_ENST00000502527.2_Missense_Mutation_p.A275S|VCAN_ENST00000343200.5_Missense_Mutation_p.A275S	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	275	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AAACCAGGATGCCAGGCTGGC	0.547																																																	0													67.0	60.0	63.0					5																	82807996		2203	4300	6503	SO:0001583	missense	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.823G>T	5.37:g.82807996G>T	ENSP00000265077:p.Ala275Ser		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.A275S	ENST00000265077.3	37	c.823	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	G	9.480	1.098024	0.20552	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000513960;ENST00000513984;ENST00000502527	T;T;T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28;2.28;2.28	5.49	4.52	0.55395	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.991707	0.08184	N	0.985030	T	0.28499	0.0705	L	0.50847	1.595	0.09310	N	1	B;B;B;P;P	0.49185	0.433;0.136;0.176;0.514;0.92	B;B;B;P;P	0.54026	0.203;0.236;0.095;0.62;0.74	T	0.13098	-1.0522	10	0.51188	T	0.08	.	7.61	0.28124	0.1544:0.0:0.7142:0.1314	.	275;275;275;275;275	P13611-3;P13611-4;P13611-2;P13611;Q86W61	.;.;.;CSPG2_HUMAN;.	S	275;275;275;227;275;275;275	ENSP00000265077:A275S;ENSP00000340062:A275S;ENSP00000342768:A275S;ENSP00000425959:A227S;ENSP00000426251:A275S;ENSP00000426715:A275S;ENSP00000421362:A275S	ENSP00000265077:A275S	A	+	1	0	VCAN	82843752	0.432000	0.25554	0.002000	0.10522	0.017000	0.09413	3.435000	0.52849	1.148000	0.42385	0.563000	0.77884	GCC	VCAN	-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link		0.547	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	G	NM_004385		82807996	+1	no_errors	ENST00000265077	ensembl	human	known	70_37	missense	SNP	0.003	T
VIPR1	7433	genome.wustl.edu	37	3	42576527	42576527	+	Silent	SNP	C	C	T	rs371839610		TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr3:42576527C>T	ENST00000325123.4	+	11	1184	c.1071C>T	c.(1069-1071)ttC>ttT	p.F357F	VIPR1-AS1_ENST00000602176.1_RNA|VIPR1_ENST00000543411.1_Silent_p.F309F|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1_ENST00000438259.2_Silent_p.F147F|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000452639.3_RNA|VIPR1-AS1_ENST00000610022.1_RNA|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1_ENST00000433647.1_Silent_p.F316F|VIPR1-AS1_ENST00000608869.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA	NM_001251885.1|NM_004624.3	NP_001238814.1|NP_004615.2	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	357					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|muscle contraction (GO:0006936)|positive regulation of cell proliferation (GO:0008284)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		ACATCATGTTCGCCTTCTTTC	0.522																																																	0								C		0,4406		0,0,2203	193.0	162.0	172.0		1071	-7.8	0.6	3		172	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	VIPR1	NM_004624.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		357/458	42576527	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7433			AH005329	CCDS2698.1, CCDS58827.1, CCDS58828.1, CCDS58829.1	3p22	2012-08-10			ENSG00000114812	ENSG00000114812		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12694	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 1"""	192321				7708752	Standard	NM_004624		Approved	VPAC1, RDC1, HVR1, VPAC1R	uc003clf.2	P32241	OTTHUMG00000131792	ENST00000325123.4:c.1071C>T	3.37:g.42576527C>T			A5JUT9|B3KPV1|B4DEB5|B4DGI4|F5H1F5|G3V0I1|Q15871|Q6P2M6	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_VIP_rcpt_1,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt	p.F357	ENST00000325123.4	37	c.1071	CCDS2698.1	3																																																																																			VIPR1	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.522	VIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIPR1	HGNC	protein_coding	OTTHUMT00000254728.4	C	NM_004624		42576527	+1	no_errors	ENST00000325123	ensembl	human	known	70_37	silent	SNP	0.130	T
WFIKKN1	117166	genome.wustl.edu	37	16	683018	683018	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr16:683018C>T	ENST00000319070.2	+	2	930	c.608C>T	c.(607-609)gCc>gTc	p.A203V		NM_053284.2	NP_444514.1	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	203	Ig-like C2-type.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(780;0.00335)				GGGGGTACGGCCAGCCTCCAC	0.706																																																	0													12.0	14.0	14.0					16																	683018		2083	4136	6219	SO:0001583	missense	117166			AK075356	CCDS10414.1	16p13	2013-01-21			ENSG00000127578	ENSG00000127578		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30912	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20A"""	608021	"""chromosome 16 open reading frame 12"""	C16orf12		11274388, 11928817	Standard	NM_053284		Approved	RJD2, WFIKKN, WFDC20A	uc002cht.1	Q96NZ8	OTTHUMG00000090359	ENST00000319070.2:c.608C>T	16.37:g.683018C>T	ENSP00000324763:p.Ala203Val		Q7LDW0|Q8NBQ1|Q96S20	Missense_Mutation	SNP	pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Whey_acidic_protein_4-diS_core,pfam_Kazal-type_dom,pfam_Immunoglobulin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like,prints_Prot_inh_Kunz-m	p.A203V	ENST00000319070.2	37	c.608	CCDS10414.1	16	.	.	.	.	.	.	.	.	.	.	c	0.771	-0.765617	0.02996	.	.	ENSG00000127578	ENST00000319070	D	0.95307	-3.67	4.64	4.64	0.57946	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.064961	0.64402	D	0.000012	D	0.85961	0.5819	N	0.21097	0.63	0.34556	D	0.711851	B	0.17268	0.021	B	0.18561	0.022	T	0.78695	-0.2104	10	0.02654	T	1	.	7.3001	0.26415	0.0:0.8098:0.0:0.1902	.	203	Q96NZ8	WFKN1_HUMAN	V	203	ENSP00000324763:A203V	ENSP00000324763:A203V	A	+	2	0	WFIKKN1	623019	0.999000	0.42202	0.988000	0.46212	0.562000	0.35680	1.949000	0.40313	2.138000	0.66242	0.431000	0.28591	GCC	WFIKKN1	-	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.706	WFIKKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFIKKN1	HGNC	protein_coding	OTTHUMT00000206731.2	C	NM_053284		683018	+1	no_errors	ENST00000319070	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF230	7773	genome.wustl.edu	37	19	44514810	44514810	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr19:44514810C>T	ENST00000429154.2	+	5	847	c.619C>T	c.(619-621)Cag>Tag	p.Q207*		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	207					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				GGAATTCAGTCAGAGCTCATG	0.443																																					GBM(175;914 2069 22996 47111 52600)												0													98.0	99.0	99.0					19																	44514810		2203	4300	6503	SO:0001587	stop_gained	7773			U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"""Zinc fingers, C2H2-type"", ""-"""	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.619C>T	19.37:g.44514810C>T	ENSP00000409318:p.Gln207*		O15322|Q504X7|Q86W84|Q9P1U6	Nonsense_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.Q207*	ENST00000429154.2	37	c.619	CCDS33044.1	19	.	.	.	.	.	.	.	.	.	.	C	18.59	3.657850	0.67586	.	.	ENSG00000159882	ENST00000429154	.	.	.	2.59	0.298	0.15766	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	5.8291	0.18570	0.0:0.6024:0.0:0.3976	.	.	.	.	X	207	.	ENSP00000409318:Q207X	Q	+	1	0	ZNF230	49206650	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.566000	0.05922	-0.004000	0.14419	-0.481000	0.04817	CAG	ZNF230	-	pfscan_Znf_C2H2		0.443	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF230	HGNC	protein_coding	OTTHUMT00000460456.1	C			44514810	+1	no_errors	ENST00000429154	ensembl	human	known	70_37	nonsense	SNP	0.000	T
ZBTB18	10472	genome.wustl.edu	37	1	244217802	244217802	+	Silent	SNP	G	G	A			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr1:244217802G>A	ENST00000358704.4	+	2	875	c.726G>A	c.(724-726)tcG>tcA	p.S242S		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	233				KLNILPSKRDLAAEPGNMWMRLPSDSAGIPQAGGEAEPHAT AAGKTVASPCSSTESLSQRSVTSVRDSADVDCVLDLSVKSS LSGVENLNSSYFSSQ -> IEHPAQQKGLGGRAWEHVDAIA LRLSRHPPGWRRGRATRHSSWKNSSQPLQLNRVFVPE (in Ref. 1; AAA81368). {ECO:0000305}.	cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TGAGGGATTCGGCAGATGTTG	0.527																																																	0													78.0	89.0	85.0					1																	244217802		2203	4300	6503	SO:0001819	synonymous_variant	10472			U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13030	protein-coding gene	gene with protein product		608433	"""zinc finger protein 238"""	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.726G>A	1.37:g.244217802G>A			A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Silent	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S242	ENST00000358704.4	37	c.726	CCDS1622.1	1																																																																																			ZNF238	-	NULL		0.527	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF238	HGNC	protein_coding	OTTHUMT00000096513.2	G	NM_205768		244217802	+1	no_errors	ENST00000358704	ensembl	human	known	70_37	silent	SNP	0.964	A
ZNF257	113835	genome.wustl.edu	37	19	22271066	22271066	+	Missense_Mutation	SNP	A	A	T			TCGA-C5-A2M1-01A-11D-A18J-09	TCGA-C5-A2M1-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ad9903a1-1291-45ae-9f5b-48c6e41f5d2b	a8afa2f2-f5c3-453c-9f5d-2ad6d3a20cc9	g.chr19:22271066A>T	ENST00000594947.1	+	4	658	c.514A>T	c.(514-516)Act>Tct	p.T172S	ZNF257_ENST00000600162.1_3'UTR	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	172					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGAAAAGAAAACTTGCAAATG	0.303																																																	0													39.0	41.0	40.0					19																	22271066		2201	4293	6494	SO:0001583	missense	113835			AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.514A>T	19.37:g.22271066A>T	ENSP00000470209:p.Thr172Ser		B3KPS4|E9PG34|Q8NE34	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.T172S	ENST00000594947.1	37	c.514	CCDS46030.1	19	.	.	.	.	.	.	.	.	.	.	A	3.704	-0.060948	0.07317	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	0.51	0.51	0.16983	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08313	0.0207	N	0.00633	-1.31	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.24799	-1.0150	8	0.51188	T	0.08	.	3.3046	0.06996	0.5542:0.4457:0.0:1.0E-4	.	172	Q9Y2Q1	ZN257_HUMAN	S	172	.	ENSP00000380312:T172S	T	+	1	0	ZNF257	22062906	0.001000	0.12720	0.004000	0.12327	0.118000	0.20060	-0.460000	0.06720	0.436000	0.26393	0.260000	0.18958	ACT	ZNF257	-	NULL		0.303	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF257	HGNC	protein_coding	OTTHUMT00000464382.1	A			22271066	+1	no_errors	ENST00000594947	ensembl	human	known	70_37	missense	SNP	0.000	T
