#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
ACACB	32	genome.wustl.edu	37	12	109687835	109687835	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr12:109687835G>C	ENST00000338432.7	+	41	5835	c.5716G>C	c.(5716-5718)Gag>Cag	p.E1906Q	ACACB_ENST00000543201.1_Missense_Mutation_p.E572Q|ACACB_ENST00000377854.5_Missense_Mutation_p.E1836Q|ACACB_ENST00000377848.3_Missense_Mutation_p.E1906Q			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1906	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CTTGGGCGTGGAGAATCTGAG	0.488																																																	0													156.0	145.0	149.0					12																	109687835		2203	4300	6503	SO:0001583	missense	32			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.5716G>C	12.37:g.109687835G>C	ENSP00000341044:p.Glu1906Gln		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.E1906Q	ENST00000338432.7	37	c.5716	CCDS31898.1	12	.	.	.	.	.	.	.	.	.	.	G	19.50	3.840126	0.71488	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000543201;ENST00000396233	D;D;D;D	0.97976	-4.64;-4.64;-4.64;-4.64	5.58	5.58	0.84498	Carboxyl transferase (1);Acetyl-coenzyme A carboxyltransferase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99205	0.9724	H	0.95470	3.675	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99038	1.0823	10	0.87932	D	0	.	19.9662	0.97271	0.0:0.0:1.0:0.0	.	1906	O00763	ACACB_HUMAN	Q	1906;1906;1836;1137;572;15	ENSP00000341044:E1906Q;ENSP00000367079:E1906Q;ENSP00000367085:E1836Q;ENSP00000444075:E572Q	ENSP00000341044:E1906Q	E	+	1	0	ACACB	108172218	1.000000	0.71417	1.000000	0.80357	0.012000	0.07955	9.857000	0.99534	2.793000	0.96121	0.655000	0.94253	GAG	ACACB	-	pfam_Carboxyl_trans,pfscan_COA_CT_N		0.488	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	HGNC	protein_coding	OTTHUMT00000403077.1	G	NM_001093		109687835	+1	no_errors	ENST00000338432	ensembl	human	known	70_37	missense	SNP	1.000	C
ANKRD28	23243	genome.wustl.edu	37	3	15838150	15838151	+	Intron	INS	-	-	TT	rs397988804|rs144777884|rs34139082|rs192856159|rs201201313	byFrequency	TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr3:15838150_15838151insTT	ENST00000399451.2	-	2	395				ANKRD28_ENST00000383777.1_5'Flank|ANKRD28_ENST00000497037.1_Intron	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28							nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						GCACAGCTGGGTTTTTTTTTTT	0.297																																																	0																																										SO:0001627	intron_variant	23243			AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.28-1337->AA	3.37:g.15838159_15838160dupTT			B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	RNA	INS	-	NULL	ENST00000399451.2	37	NULL	CCDS46769.1	3																																																																																			ANKRD28	-	-		0.297	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	ANKRD28	HGNC	protein_coding	OTTHUMT00000339758.1	-	NM_015199		15838151	-1	no_errors	ENST00000461696	ensembl	human	known	70_37	rna	INS	0.016:0.428	TT
ANKRD32	84250	genome.wustl.edu	37	5	94027876	94027876	+	Silent	SNP	C	C	T			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr5:94027876C>T	ENST00000265140.5	+	20	3029	c.2610C>T	c.(2608-2610)ctC>ctT	p.L870L		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	870						centrosome (GO:0005813)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		TAGATCTGCTCACTCAAGTGG	0.488																																																	0													143.0	129.0	134.0					5																	94027876		2203	4300	6503	SO:0001819	synonymous_variant	84250			AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"""Ankyrin repeat domain containing"""	25408	protein-coding gene	gene with protein product			"""BRCT domain containing 1"""	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.2610C>T	5.37:g.94027876C>T			B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L870	ENST00000265140.5	37	c.2610	CCDS4071.2	5																																																																																			ANKRD32	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.488	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD32	HGNC	protein_coding	OTTHUMT00000241610.1	C	NM_032290		94027876	+1	no_errors	ENST00000265140	ensembl	human	known	70_37	silent	SNP	1.000	T
APLN	8862	genome.wustl.edu	37	X	128782615	128782615	+	Silent	SNP	G	G	T			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chrX:128782615G>T	ENST00000307484.6	-	2	547	c.222C>A	c.(220-222)ccC>ccA	p.P74P	APLN_ENST00000427399.1_Missense_Mutation_p.P37Q|APLN_ENST00000429967.1_Missense_Mutation_p.P37Q	NM_017413.4	NP_059109.3	Q9ULZ1	APEL_HUMAN	apelin	74					immune response (GO:0006955)|lactation (GO:0007595)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	receptor binding (GO:0005102)										AGAAAGGCATGGGTCCCTTAT	0.622																																																	0													14.0	15.0	15.0					X																	128782615		1962	4115	6077	SO:0001819	synonymous_variant	8862			AF179680		Xq25	2013-02-25	2008-04-21		ENSG00000171388	ENSG00000171388		"""Endogenous ligands"""	16665	protein-coding gene	gene with protein product		300297	"""apelin, AGTRL1 ligand"""			9792798, 10525157	Standard	NM_017413		Approved	apelin, XNPEP2	uc004eus.3	Q9ULZ1	OTTHUMG00000022371	ENST00000307484.6:c.222C>A	X.37:g.128782615G>T			Q4VY08|Q8WU89	Missense_Mutation	SNP	NULL	p.P37Q	ENST00000307484.6	37	c.110	CCDS48165.1	X	.	.	.	.	.	.	.	.	.	.	g	13.85	2.360819	0.41801	.	.	ENSG00000171388	ENST00000429967;ENST00000427399	.	.	.	5.63	2.74	0.32292	.	0.227120	0.22611	N	0.057824	T	0.62270	0.2414	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61608	-0.7028	6	0.87932	D	0	-0.4891	6.6051	0.22721	0.0968:0.3404:0.5628:0.0	.	.	.	.	Q	37	.	ENSP00000390834:P37Q	P	-	2	0	APLN	128610296	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.955000	0.40372	0.543000	0.28864	0.553000	0.69018	CCA	APLN	-	NULL		0.622	APLN-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APLN	HGNC	protein_coding		G	NM_017413		128782615	-1	no_errors	ENST00000427399	ensembl	human	known	70_37	missense	SNP	1.000	T
ARHGAP35	2909	genome.wustl.edu	37	19	47421954	47421954	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr19:47421954G>C	ENST00000404338.3	+	1	22	c.22G>C	c.(22-24)Gat>Cat	p.D8H		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	8					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										AAGAAAGCAAGATGTCCGAAT	0.483																																																	0													160.0	170.0	167.0					19																	47421954		2099	4226	6325	SO:0001583	missense	2909			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.22G>C	19.37:g.47421954G>C	ENSP00000385720:p.Asp8His		A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.D8H	ENST00000404338.3	37	c.22	CCDS46127.1	19	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468855	0.63625	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	T	0.10960	2.82	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.29684	0.0741	M	0.62723	1.935	0.80722	D	1	D	0.55800	0.973	P	0.60949	0.881	T	0.00451	-1.1731	10	0.87932	D	0	-29.0423	18.3237	0.90246	0.0:0.0:1.0:0.0	.	8	Q9NRY4-2	.	H	8	ENSP00000385720:D8H	ENSP00000324820:D8H	D	+	1	0	ARHGAP35	52113794	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.697000	0.92050	0.563000	0.77884	GAT	ARHGAP35	-	NULL		0.483	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP35	HGNC	protein_coding	OTTHUMT00000466652.1	G	NM_004491		47421954	+1	no_errors	ENST00000404338	ensembl	human	known	70_37	missense	SNP	1.000	C
BCKDK	10295	genome.wustl.edu	37	16	31121606	31121606	+	Silent	SNP	C	C	G			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr16:31121606C>G	ENST00000394951.1	+	7	1127	c.504C>G	c.(502-504)ctC>ctG	p.L168L	BCKDK_ENST00000287507.3_Silent_p.L168L|BCKDK_ENST00000394950.3_Silent_p.L168L|AC135050.1_ENST00000517000.2_RNA|BCKDK_ENST00000219794.6_Silent_p.L168L			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	168	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				branched-chain amino acid catabolic process (GO:0009083)|cellular amino acid catabolic process (GO:0009063)|phosphorylation (GO:0016310)|protein phosphorylation (GO:0006468)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrion (GO:0005739)	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity (GO:0047323)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|stomach(1)	2						TGGTGACCCTCTTGGCAGAGG	0.622																																																	0													67.0	67.0	67.0					16																	31121606		2197	4300	6497	SO:0001819	synonymous_variant	10295			AF026548	CCDS10705.1, CCDS45467.1, CCDS61917.1	16p11.2	2008-05-14			ENSG00000103507	ENSG00000103507			16902	protein-coding gene	gene with protein product		614901				1889817	Standard	NM_005881		Approved		uc002eaw.5	O14874	OTTHUMG00000047356	ENST00000394951.1:c.504C>G	16.37:g.31121606C>G			A8MY43|Q6FGL4|Q96G95|Q96IN5	Silent	SNP	pfam_BCDHK/PDK_N,pfam_ATPase-like_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core,prints_Sig_transdc_His_kin-like_C	p.L168	ENST00000394951.1	37	c.504	CCDS10705.1	16																																																																																			BCKDK	-	pfam_BCDHK/PDK_N,superfamily_BCDHK/PDK_N		0.622	BCKDK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BCKDK	HGNC	protein_coding	OTTHUMT00000108514.1	C	NM_005881		31121606	+1	no_errors	ENST00000219794	ensembl	human	known	70_37	silent	SNP	0.997	G
ATMIN	23300	genome.wustl.edu	37	16	81077772	81077772	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr16:81077772C>T	ENST00000299575.4	+	4	1693	c.1669C>T	c.(1669-1671)Caa>Taa	p.Q557*	ATMIN_ENST00000566488.1_Nonsense_Mutation_p.Q401*|ATMIN_ENST00000564241.1_Nonsense_Mutation_p.Q401*|ATMIN_ENST00000539819.1_3'UTR	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	557					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						GACTTTAAATCAAGATATTGA	0.338																																																	0													42.0	42.0	42.0					16																	81077772		2202	4299	6501	SO:0001587	stop_gained	23300			BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"""Zinc fingers, C2H2-type"""	29034	protein-coding gene	gene with protein product	"""ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein"", ""ATM INteracting protein"""	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.1669C>T	16.37:g.81077772C>T	ENSP00000299575:p.Gln557*		A8K4H8|Q68DC9	Nonsense_Mutation	SNP	smart_Znf_C2H2-like	p.Q557*	ENST00000299575.4	37	c.1669	CCDS32494.1	16	.	.	.	.	.	.	.	.	.	.	C	44	10.795280	0.99469	.	.	ENSG00000166454	ENST00000299575;ENST00000539819	.	.	.	6.17	4.18	0.49190	.	0.236013	0.38272	N	0.001758	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	0.0763	17.7307	0.88376	0.0:0.5313:0.4687:0.0	.	.	.	.	X	557;328	.	ENSP00000299575:Q557X	Q	+	1	0	ATMIN	79635273	0.998000	0.40836	0.664000	0.29753	0.678000	0.39670	1.281000	0.33214	0.896000	0.36366	-0.175000	0.13238	CAA	ATMIN	-	NULL		0.338	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATMIN	HGNC	protein_coding	OTTHUMT00000432140.1	C	NM_015251		81077772	+1	no_errors	ENST00000299575	ensembl	human	known	70_37	nonsense	SNP	0.925	T
BSN	8927	genome.wustl.edu	37	3	49701900	49701900	+	Missense_Mutation	SNP	G	G	A	rs202222119		TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr3:49701900G>A	ENST00000296452.4	+	9	11767	c.11653G>A	c.(11653-11655)Gcc>Acc	p.A3885T		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3885					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGGGGCTCCCGCCGGCCAGCC	0.622																																																	0													52.0	64.0	60.0					3																	49701900		2203	4299	6502	SO:0001583	missense	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.11653G>A	3.37:g.49701900G>A	ENSP00000296452:p.Ala3885Thr		O43161|Q7LGH3	Missense_Mutation	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.A3885T	ENST00000296452.4	37	c.11653	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	G	12.88	2.069183	0.36470	.	.	ENSG00000164061	ENST00000296452	T	0.21191	2.02	4.88	2.71	0.32032	.	0.208432	0.39475	N	0.001344	T	0.11024	0.0269	N	0.21448	0.665	0.49389	D	0.999785	B	0.31125	0.309	B	0.18561	0.022	T	0.12477	-1.0546	10	0.48119	T	0.1	-3.7278	6.9324	0.24449	0.1541:0.1837:0.6622:0.0	.	3885	Q9UPA5	BSN_HUMAN	T	3885	ENSP00000296452:A3885T	ENSP00000296452:A3885T	A	+	1	0	BSN	49676904	0.982000	0.34865	0.939000	0.37840	0.737000	0.42083	1.982000	0.40638	1.010000	0.39314	0.561000	0.74099	GCC	BSN	-	NULL		0.622	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	G	NM_003458		49701900	+1	no_errors	ENST00000296452	ensembl	human	known	70_37	missense	SNP	0.832	A
C6	729	genome.wustl.edu	37	5	41172399	41172399	+	Missense_Mutation	SNP	G	G	A	rs147449601		TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr5:41172399G>A	ENST00000263413.3	-	9	1483	c.1219C>T	c.(1219-1221)Cgc>Tgc	p.R407C	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Missense_Mutation_p.R407C	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	407	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AATAAAACGCGTTTCTTTGTT	0.403													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20737	0.0		0.0	False		,,,				2504	0.0																0													254.0	210.0	225.0					5																	41172399		2203	4300	6503	SO:0001583	missense	729			J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1219C>T	5.37:g.41172399G>A	ENSP00000263413:p.Arg407Cys			Missense_Mutation	SNP	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal-type_dom,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.R407C	ENST00000263413.3	37	c.1219	CCDS3936.1	5	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	14.30	2.492870	0.44352	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	D;D	0.84516	-1.86;-1.86	4.89	1.96	0.26148	Membrane attack complex component/perforin (MACPF) domain (3);	4.273250	0.00633	N	0.000490	D	0.92371	0.7579	M	0.77820	2.39	0.33131	D	0.543038	D	0.69078	0.997	D	0.63192	0.912	T	0.79203	-0.1900	10	0.37606	T	0.19	-3.9749	13.7749	0.63048	0.0:0.0:0.5979:0.4021	.	407	P13671	CO6_HUMAN	C	407	ENSP00000338861:R407C;ENSP00000263413:R407C	ENSP00000263413:R407C	R	-	1	0	C6	41208156	0.392000	0.25229	0.093000	0.20910	0.697000	0.40408	1.872000	0.39549	0.159000	0.19401	0.655000	0.94253	CGC	C6	-	pfam_MACPF,smart_MACPF		0.403	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6	HGNC	protein_coding	OTTHUMT00000211592.1	G			41172399	-1	no_errors	ENST00000263413	ensembl	human	known	70_37	missense	SNP	0.587	A
CA6	765	genome.wustl.edu	37	1	9027808	9027808	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr1:9027808C>T	ENST00000377443.2	+	6	666	c.662C>T	c.(661-663)aCg>aTg	p.T221M	CA6_ENST00000377442.2_Missense_Mutation_p.T161M|CA6_ENST00000377436.3_Missense_Mutation_p.T221M|CA6_ENST00000476083.1_3'UTR	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	221	Substrate binding. {ECO:0000250}.				bicarbonate transport (GO:0015701)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	Mafenide(DB06795)|Zonisamide(DB00909)	TCACTCACCACGCCTCCCTGC	0.527																																																	0													186.0	138.0	154.0					1																	9027808		2203	4300	6503	SO:0001583	missense	765			M57892	CCDS30578.1, CCDS57970.1, CCDS57971.1	1p36.2	2008-02-05			ENSG00000131686	ENSG00000131686	4.2.1.1	"""Carbonic anhydrases"""	1380	protein-coding gene	gene with protein product		114780				9691177	Standard	NM_001215		Approved		uc031plc.1	P23280	OTTHUMG00000001763	ENST00000377443.2:c.662C>T	1.37:g.9027808C>T	ENSP00000366662:p.Thr221Met		E7EMQ1|Q5FBW3|Q5FC00|Q96QX8|Q9UF03	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.T221M	ENST00000377443.2	37	c.662	CCDS30578.1	1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.908363	0.52333	.	.	ENSG00000131686	ENST00000377443;ENST00000377436;ENST00000377442	T;T;T	0.61158	0.13;0.13;0.13	5.31	5.31	0.75309	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.048752	0.85682	D	0.000000	D	0.83073	0.5175	H	0.96175	3.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88185	0.2873	9	.	.	.	.	14.4726	0.67526	0.0:1.0:0.0:0.0	.	161;221	E7EMQ1;P23280	.;CAH6_HUMAN	M	221;221;161	ENSP00000366662:T221M;ENSP00000366654:T221M;ENSP00000366661:T161M	.	T	+	2	0	CA6	8950395	1.000000	0.71417	0.951000	0.38953	0.041000	0.13682	5.737000	0.68606	2.472000	0.83506	0.561000	0.74099	ACG	CA6	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a		0.527	CA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CA6	HGNC	protein_coding	OTTHUMT00000004911.1	C			9027808	+1	no_errors	ENST00000377443	ensembl	human	known	70_37	missense	SNP	0.991	T
CASP14	23581	genome.wustl.edu	37	19	15164616	15164616	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr19:15164616G>A	ENST00000427043.3	+	4	558	c.250G>A	c.(250-252)Gtg>Atg	p.V84M	CASP14_ENST00000221740.1_Missense_Mutation_p.V84M|AC004699.1_ENST00000411269.1_RNA	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	84					cornification (GO:0070268)|epidermis development (GO:0008544)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinization (GO:0031424)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)	p.V84M(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						TTGTGCCTTCGTGGTACTCAT	0.537																																																	1	Substitution - Missense(1)	large_intestine(1)											93.0	81.0	85.0					19																	15164616		2203	4300	6503	SO:0001583	missense	23581				CCDS12323.1	19p13.1	2008-07-16	2005-08-17			ENSG00000105141			1502	protein-coding gene	gene with protein product	"""apoptosis-related cysteine protease"""	605848	"""caspase 14, apoptosis-related cysteine protease"""			10203698, 9792675	Standard	NM_012114		Approved	MICE, MGC119078, MGC119079	uc010dzv.2	P31944		ENST00000427043.3:c.250G>A	19.37:g.15164616G>A	ENSP00000393417:p.Val84Met		O95823|Q3SYC9	Missense_Mutation	SNP	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.V84M	ENST00000427043.3	37	c.250	CCDS12323.1	19	.	.	.	.	.	.	.	.	.	.	g	13.87	2.366007	0.41902	.	.	ENSG00000105141	ENST00000427043;ENST00000221740	T;T	0.28069	1.63;1.63	5.27	4.23	0.50019	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	0.000000	0.56097	D	0.000026	T	0.57417	0.2052	M	0.87900	2.915	0.33261	D	0.5598	D	0.89917	1.0	D	0.91635	0.999	T	0.71892	-0.4455	10	0.66056	D	0.02	.	9.7296	0.40352	0.0966:0.0:0.9034:0.0	.	84	P31944	CASPE_HUMAN	M	84	ENSP00000393417:V84M;ENSP00000221740:V84M	ENSP00000221740:V84M	V	+	1	0	CASP14	15025616	0.981000	0.34729	0.295000	0.24960	0.255000	0.26057	1.864000	0.39469	1.210000	0.43336	0.306000	0.20318	GTG	CASP14	-	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core		0.537	CASP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP14	HGNC	protein_coding	OTTHUMT00000465663.1	G	NM_012114		15164616	+1	no_errors	ENST00000221740	ensembl	human	known	70_37	missense	SNP	0.732	A
CDKN2A	1029	genome.wustl.edu	37	9	21994297	21994297	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr9:21994297G>A	ENST00000579755.1	-	1	326	c.34C>T	c.(34-36)Cgg>Tgg	p.R12W	CDKN2B-AS1_ENST00000581051.1_RNA|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000470819.2_Intron|CDKN2B-AS1_ENST00000582072.1_RNA|RP11-149I2.4_ENST00000578935.1_RNA|CDKN2B-AS1_ENST00000580467.1_RNA|CDKN2B-AS1_ENST00000584637.1_RNA|CDKN2B-AS1_ENST00000584351.1_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2A_ENST00000530628.2_Missense_Mutation_p.R12W|CDKN2A_ENST00000361570.3_Missense_Mutation_p.R53W|CDKN2B-AS1_ENST00000455933.2_RNA|CDKN2B-AS1_ENST00000582301.1_RNA|CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B-AS1_ENST00000584816.1_RNA|CDKN2B-AS1_ENST00000468603.2_RNA|CDKN2A_ENST00000494262.1_Intron|CDKN2B-AS1_ENST00000583719.1_RNA|CDKN2B-AS1_ENST00000584020.1_RNA			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(198)|p.0(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CACGCGCGCCGAATCCGGAGG	0.726		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																							199	Whole gene deletion(199)	haematopoietic_and_lymphoid_tissue(34)|central_nervous_system(31)|lung(31)|skin(16)|kidney(14)|oesophagus(11)|bone(10)|pancreas(10)|urinary_tract(7)|breast(6)|soft_tissue(5)|thyroid(4)|pleura(4)|large_intestine(3)|stomach(3)|liver(3)|ovary(3)|upper_aerodigestive_tract(1)|vulva(1)|biliary_tract(1)|autonomic_ganglia(1)	GRCh37	HM972052	p14arf	M							10.0	12.0	11.0					9																	21994297		2167	4242	6409	SO:0001583	missense	1029			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000579755.1:c.34C>T	9.37:g.21994297G>A	ENSP00000462950:p.Arg12Trp		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	pfam_Cyclin_kinase-Inhib_2A	p.R53W	ENST00000579755.1	37	c.157	CCDS6511.2	9	.	.	.	.	.	.	.	.	.	.	G	14.95	2.687623	0.48097	.	.	ENSG00000147889	ENST00000361570;ENST00000530628	D;D	0.81499	-1.5;-1.5	4.23	2.22	0.28083	.	0.210963	0.24158	N	0.041001	T	0.63861	0.2547	L	0.27053	0.805	0.09310	N	1	B	0.29232	0.238	B	0.22880	0.042	T	0.58578	-0.7612	10	0.87932	D	0	.	5.2362	0.15448	0.1145:0.2108:0.6747:0.0	.	53	Q8N726	CD2A2_HUMAN	W	53;12	ENSP00000355153:R53W;ENSP00000432664:R12W	ENSP00000355153:R53W	R	-	1	2	CDKN2A	21984297	0.996000	0.38824	0.943000	0.38184	0.142000	0.21351	1.501000	0.35693	1.138000	0.42230	0.555000	0.69702	CGG	CDKN2A	-	pfam_Cyclin_kinase-Inhib_2A		0.726	CDKN2A-004	KNOWN	NMD_exception|upstream_ATG|basic|CCDS	protein_coding	CDKN2A	HGNC	protein_coding	OTTHUMT00000051918.5	G	NM_000077		21994297	-1	no_errors	ENST00000361570	ensembl	human	known	70_37	missense	SNP	0.269	A
CERS3	204219	genome.wustl.edu	37	15	100942982	100942982	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr15:100942982T>C	ENST00000394113.1	-	14	1778	c.1088A>G	c.(1087-1089)gAt>gGt	p.D363G	CERS3_ENST00000538112.2_Missense_Mutation_p.D363G|RP11-168G16.2_ENST00000560643.1_RNA|CERS3_ENST00000560944.1_5'UTR|CERS3_ENST00000284382.4_Missense_Mutation_p.D363G|RP11-168G16.2_ENST00000560718.1_RNA			Q8IU89	CERS3_HUMAN	ceramide synthase 3	363					ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										CTTTAAACAATCCATCTCTTT	0.507																																																	0													167.0	127.0	141.0					15																	100942982		2203	4300	6503	SO:0001583	missense	204219				CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"""Homeoboxes / CERS class"""	23752	protein-coding gene	gene with protein product		615276	"""LAG1 longevity assurance homolog 3 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 3"""	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.1088A>G	15.37:g.100942982T>C	ENSP00000377672:p.Asp363Gly		Q8NE64|Q8NEN6	Missense_Mutation	SNP	pirsf_Longevity_assurance_LAG1_LAC1,pfam_TLC-dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_TLC-dom,pfscan_TLC-dom,pfscan_Homeodomain	p.D363G	ENST00000394113.1	37	c.1088	CCDS10384.1	15	.	.	.	.	.	.	.	.	.	.	T	9.139	1.013435	0.19277	.	.	ENSG00000154227	ENST00000284382;ENST00000394113;ENST00000538112	T;T	0.06849	3.25;3.25	4.93	3.79	0.43588	.	1.051590	0.07566	N	0.917850	T	0.04724	0.0128	N	0.11560	0.145	0.24361	N	0.994873	P	0.34522	0.455	B	0.29440	0.102	T	0.42882	-0.9425	10	0.23891	T	0.37	-8.0868	8.1655	0.31224	0.1787:0.0:0.0:0.8213	.	363	Q8IU89	CERS3_HUMAN	G	363;374;363	ENSP00000284382:D363G;ENSP00000437640:D363G	ENSP00000284382:D363G	D	-	2	0	CERS3	98760505	0.107000	0.21998	0.364000	0.25888	0.275000	0.26752	2.324000	0.43831	0.820000	0.34516	0.482000	0.46254	GAT	CERS3	-	pirsf_Longevity_assurance_LAG1_LAC1		0.507	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	CERS3	HGNC	protein_coding	OTTHUMT00000313594.4	T	NM_178842		100942982	-1	no_errors	ENST00000284382	ensembl	human	known	70_37	missense	SNP	0.846	C
CLIP1	6249	genome.wustl.edu	37	12	122835663	122835663	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr12:122835663C>A	ENST00000540338.1	-	8	1437	c.1396G>T	c.(1396-1398)Gag>Tag	p.E466*	CLIP1_ENST00000545889.1_Intron|CLIP1_ENST00000537178.1_Intron|CLIP1_ENST00000302528.7_Intron|CLIP1_ENST00000358808.2_Intron|CLIP1_ENST00000361654.4_Intron			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	466					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTTACATTCTCAGGATCTTCA	0.303																																																	0													11.0	11.0	11.0					12																	122835663		872	1987	2859	SO:0001587	stop_gained	6249				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.1396G>T	12.37:g.122835663C>A	ENSP00000439093:p.Glu466*		A0AVD3|Q17RS4|Q29RG0	Nonsense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain	p.E466*	ENST00000540338.1	37	c.1396	CCDS58285.1	12	.	.	.	.	.	.	.	.	.	.	C	43	9.906306	0.99293	.	.	ENSG00000130779	ENST00000540338;ENST00000450731;ENST00000537004	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-15.8374	19.0599	0.93085	0.0:1.0:0.0:0.0	.	.	.	.	X	466;51;400	.	ENSP00000400618:E51X	E	-	1	0	CLIP1	121401616	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.748000	0.62148	2.941000	0.99782	0.655000	0.94253	GAG	CLIP1	-	NULL		0.303	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLIP1	HGNC	protein_coding	OTTHUMT00000401625.1	C	NM_002956		122835663	-1	no_errors	ENST00000540338	ensembl	human	known	70_37	nonsense	SNP	1.000	A
COL20A1	57642	genome.wustl.edu	37	20	61950516	61950516	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr20:61950516G>A	ENST00000358894.6	+	22	2870	c.2770G>A	c.(2770-2772)Gag>Aag	p.E924K	COL20A1_ENST00000435874.1_Missense_Mutation_p.E931K|COL20A1_ENST00000422202.1_Missense_Mutation_p.E931K|COL20A1_ENST00000326996.6_Missense_Mutation_p.E924K	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	924	Laminin G-like.			E -> K (in Ref. 2; AAH43183). {ECO:0000305}.	extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GATGACAGCCGAGGACTTCCA	0.672																																																	0													34.0	39.0	38.0					20																	61950516		1996	4157	6153	SO:0001583	missense	57642			BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.2770G>A	20.37:g.61950516G>A	ENSP00000351767:p.Glu924Lys		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.E924K	ENST00000358894.6	37	c.2770	CCDS46628.1	20	.	.	.	.	.	.	.	.	.	.	G	10.77	1.445103	0.25987	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202;ENST00000415763	T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66	4.21	3.26	0.37387	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.464267	0.21987	N	0.066218	T	0.11281	0.0275	N	0.25332	0.735	0.32397	N	0.552437	D;P	0.53312	0.959;0.931	P;B	0.45449	0.481;0.288	T	0.11108	-1.0601	10	0.44086	T	0.13	.	9.2643	0.37632	0.1046:0.0:0.8954:0.0	.	931;924	Q9P218-2;Q9P218	.;COKA1_HUMAN	K	924;924;931;931;27	ENSP00000351767:E924K;ENSP00000323077:E924K;ENSP00000408690:E931K;ENSP00000414753:E931K;ENSP00000410799:E27K	ENSP00000323077:E924K	E	+	1	0	COL20A1	61420961	0.950000	0.32346	0.022000	0.16811	0.042000	0.13812	1.678000	0.37586	0.781000	0.33589	-0.390000	0.06520	GAG	COL20A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.672	COL20A1-006	KNOWN	basic|CCDS	protein_coding	COL20A1	HGNC	protein_coding	OTTHUMT00000144595.2	G	NM_020882		61950516	+1	no_errors	ENST00000326996	ensembl	human	known	70_37	missense	SNP	0.866	A
COQ3	51805	genome.wustl.edu	37	6	99831699	99831699	+	Splice_Site	SNP	A	A	G			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr6:99831699A>G	ENST00000254759.3	-	2	132	c.108T>C	c.(106-108)gtT>gtC	p.V36V	COQ3_ENST00000479163.1_5'UTR|COQ3_ENST00000369242.1_5'UTR	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	36					glycerol metabolic process (GO:0006071)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity (GO:0008425)|3-demethylubiquinone-9 3-O-methyltransferase activity (GO:0008689)|hexaprenyldihydroxybenzoate methyltransferase activity (GO:0004395)|O-methyltransferase activity (GO:0008171)			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		TCTTCACATAAACTGAAAAAA	0.313																																																	0													53.0	58.0	57.0					6																	99831699		2202	4299	6501	SO:0001630	splice_region_variant	51805			AF193016	CCDS5042.1	6q21	2013-05-01	2013-05-01		ENSG00000132423	ENSG00000132423	2.1.1.114		18175	protein-coding gene	gene with protein product	"""polyprenyldihydroxybenzoate methyltransferase"""	605196	"""coenzyme Q3 homolog, methyltransferase (yeast)"", ""coenzyme Q3 homolog, methyltransferase (S. cerevisiae)"""			10777520	Standard	NM_017421		Approved	bA9819.1	uc003ppk.3	Q9NZJ6	OTTHUMG00000015264	ENST00000254759.3:c.107-1T>C	6.37:g.99831699A>G			B3KPX0|Q5T061|Q6P4F0|Q8IXG6|Q96BG1|Q9H0N1	Silent	SNP	pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_Mycolic_cyclopropane_synthase,pfam_UbiE/COQ5_MeTrFase,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_SAM-MeTfrase_NodS-related,tigrfam_UbiG_MeTrfase	p.V36	ENST00000254759.3	37	c.108	CCDS5042.1	6																																																																																			COQ3	-	NULL		0.313	COQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COQ3	HGNC	protein_coding	OTTHUMT00000041602.1	A	NM_017421	Silent	99831699	-1	no_errors	ENST00000254759	ensembl	human	known	70_37	silent	SNP	0.669	G
COQ3	51805	genome.wustl.edu	37	6	99831701	99831701	+	Splice_Site	SNP	C	C	T			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr6:99831701C>T	ENST00000254759.3	-	2	131		c.e2-1		COQ3_ENST00000479163.1_Splice_Site|COQ3_ENST00000369242.1_Splice_Site	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase						glycerol metabolic process (GO:0006071)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity (GO:0008425)|3-demethylubiquinone-9 3-O-methyltransferase activity (GO:0008689)|hexaprenyldihydroxybenzoate methyltransferase activity (GO:0004395)|O-methyltransferase activity (GO:0008171)			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		TTCACATAAACTGAAAAAAAA	0.308																																																	0													52.0	57.0	55.0					6																	99831701		2202	4299	6501	SO:0001630	splice_region_variant	51805			AF193016	CCDS5042.1	6q21	2013-05-01	2013-05-01		ENSG00000132423	ENSG00000132423	2.1.1.114		18175	protein-coding gene	gene with protein product	"""polyprenyldihydroxybenzoate methyltransferase"""	605196	"""coenzyme Q3 homolog, methyltransferase (yeast)"", ""coenzyme Q3 homolog, methyltransferase (S. cerevisiae)"""			10777520	Standard	NM_017421		Approved	bA9819.1	uc003ppk.3	Q9NZJ6	OTTHUMG00000015264	ENST00000254759.3:c.107-1G>A	6.37:g.99831701C>T			B3KPX0|Q5T061|Q6P4F0|Q8IXG6|Q96BG1|Q9H0N1	Splice_Site	SNP	-	e2-1	ENST00000254759.3	37	c.107-1	CCDS5042.1	6	.	.	.	.	.	.	.	.	.	.	C	10.22	1.290140	0.23478	.	.	ENSG00000132423	ENST00000254759	.	.	.	4.36	0.606	0.17559	.	.	.	.	.	.	.	.	.	.	.	0.50632	D	0.999888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.1158	0.20126	0.0:0.5624:0.0:0.4376	.	.	.	.	.	-1	.	.	.	-	.	.	COQ3	99938422	0.000000	0.05858	0.654000	0.29608	0.658000	0.38924	-0.565000	0.05929	0.215000	0.20761	0.655000	0.94253	.	COQ3	-	-		0.308	COQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COQ3	HGNC	protein_coding	OTTHUMT00000041602.1	C	NM_017421	Intron	99831701	-1	no_errors	ENST00000254759	ensembl	human	known	70_37	splice_site	SNP	0.683	T
DDX26B	203522	genome.wustl.edu	37	X	134716150	134716150	+	3'UTR	SNP	C	C	T			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chrX:134716150C>T	ENST00000370752.4	+	0	3509				DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B											large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCAACTCTCTTCTCTTTTG	0.428																																																	0																																										SO:0001624	3_prime_UTR_variant	203522			AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.*589C>T	X.37:g.134716150C>T			Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	RNA	SNP	-	NULL	ENST00000370752.4	37	NULL	CCDS35401.1	X																																																																																			DDX26B	-	-		0.428	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX26B	HGNC	protein_coding	OTTHUMT00000058420.1	C	NM_182540		134716150	+1	no_errors	ENST00000481908	ensembl	human	known	70_37	rna	SNP	1.000	T
DPP10	57628	genome.wustl.edu	37	2	116538475	116538475	+	Missense_Mutation	SNP	C	C	G	rs139445738		TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr2:116538475C>G	ENST00000410059.1	+	16	1867	c.1387C>G	c.(1387-1389)Cgc>Ggc	p.R463G	DPP10_ENST00000310323.8_Missense_Mutation_p.R456G|DPP10_ENST00000409163.1_Missense_Mutation_p.R413G|DPP10_ENST00000393147.2_Missense_Mutation_p.R467G	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	463						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ATTATTGAATCGCCAATGCAT	0.318																																																	0													119.0	117.0	118.0					2																	116538475		2202	4292	6494	SO:0001583	missense	57628			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1387C>G	2.37:g.116538475C>G	ENSP00000386565:p.Arg463Gly		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.R467G	ENST00000410059.1	37	c.1399	CCDS46400.1	2	.	.	.	.	.	.	.	.	.	.	C	21.4	4.136315	0.77662	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.86	5.86	0.93980	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.62720	0.2451	M	0.86805	2.84	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.998;0.998;0.998	T	0.67074	-0.5762	10	0.66056	D	0.02	-15.3281	17.3362	0.87282	0.0:1.0:0.0:0.0	.	456;467;459;463	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	G	463;413;467;456;413	ENSP00000386565:R463G;ENSP00000387038:R413G;ENSP00000376855:R467G;ENSP00000309066:R456G	ENSP00000309066:R456G	R	+	1	0	DPP10	116254945	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.060000	0.64312	2.777000	0.95525	0.655000	0.94253	CGC	DPP10	-	pfam_Peptidase_S9B		0.318	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	HGNC	protein_coding	OTTHUMT00000330580.4	C	NM_020868		116538475	+1	no_errors	ENST00000393147	ensembl	human	known	70_37	missense	SNP	1.000	G
BX088651.1	0	genome.wustl.edu	37	9	44402547	44402547	+	5'Flank	SNP	G	G	A			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr9:44402547G>A	ENST00000540551.1	-	0	0				RP11-475I24.3_ENST00000435586.1_lincRNA																							CAATGCCTCTGGGATCAGGGA	0.542																																																	0																																										SO:0001631	upstream_gene_variant	0																															9.37:g.44402547G>A	Exception_encountered			RNA	SNP	-	NULL	ENST00000540551.1	37	NULL		9																																																																																			RP11-475I24.3	-	-		0.542	BX088651.1-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000237357	Clone_based_vega_gene	protein_coding		G			44402547	+1	no_errors	ENST00000435586	ensembl	human	known	70_37	rna	SNP	0.078	A
POLR2I	5438	genome.wustl.edu	37	19	36605678	36605678	+	Intron	SNP	T	T	C			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr19:36605678T>C	ENST00000221859.4	-	1	549				TBCB_ENST00000221855.3_5'Flank|TBCB_ENST00000586868.1_5'Flank|TBCB_ENST00000585746.1_5'Flank|TBCB_ENST00000589996.1_5'Flank	NM_006233.4	NP_006224.1	P36954	RPB9_HUMAN	polymerase (RNA) II (DNA directed) polypeptide I, 14.5kDa						7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|maintenance of transcriptional fidelity during DNA-templated transcription elongation from RNA polymerase II promoter (GO:0001193)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|ovary(1)	3	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCTTCTAACATCACCCGCTCC	0.627																																																	0													111.0	112.0	112.0					19																	36605678		2203	4300	6503	SO:0001627	intron_variant	0				CCDS12487.1	19q13.12	2013-10-17	2002-08-29		ENSG00000105258	ENSG00000105258	2.7.7.6	"""RNA polymerase subunits"""	9196	protein-coding gene	gene with protein product		180662	"""polymerase (RNA) II (DNA directed) polypeptide I (14.5kD)"""			8034326	Standard	NM_006233		Approved	RPB9, hRPB14.5	uc002ode.3	P36954	OTTHUMG00000181749	ENST00000221859.4:c.59+21A>G	19.37:g.36605678T>C			B2R5J2|Q6NW05	RNA	SNP	-	NULL	ENST00000221859.4	37	NULL	CCDS12487.1	19																																																																																			AD001527.4	-	-		0.627	POLR2I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000266974	Clone_based_vega_gene	protein_coding	OTTHUMT00000457442.1	T	NM_006233		36605678	+1	no_errors	ENST00000592532	ensembl	human	known	70_37	rna	SNP	0.028	C
LINC00868	283994	genome.wustl.edu	37	17	74846569	74846569	+	lincRNA	SNP	C	C	T			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr17:74846569C>T	ENST00000592919.1	+	0	312									long intergenic non-protein coding RNA 868																		ATCCGGGTCCCTGGACAGCCA	0.557																																																	0																																												0			BC038218		17q25.2	2013-03-14	2013-03-14	2013-03-14	ENSG00000267535	ENSG00000267535		"""Long non-coding RNAs"""	27562	non-coding RNA	RNA, long non-coding			"""chromosome 17 open reading frame 52"""	C17orf52		12477932	Standard			Approved				OTTHUMG00000177703		17.37:g.74846569C>T				RNA	SNP	-	NULL	ENST00000592919.1	37	NULL		17																																																																																			RP11-87G24.5	-	-		0.557	LINC00868-001	KNOWN	basic	lincRNA	ENSG00000267535	Clone_based_vega_gene	lincRNA	OTTHUMT00000438603.1	C			74846569	+1	no_errors	ENST00000592919	ensembl	human	known	70_37	rna	SNP	0.008	T
GABRG1	2565	genome.wustl.edu	37	4	46060368	46060368	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr4:46060368G>A	ENST00000295452.4	-	7	949	c.782C>T	c.(781-783)aCa>aTa	p.T261I		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	261					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AAAAAAAATTGTCATGATAAC	0.294																																																	0													92.0	96.0	95.0					4																	46060368		2203	4300	6503	SO:0001583	missense	2565			BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.782C>T	4.37:g.46060368G>A	ENSP00000295452:p.Thr261Ile		Q5H9T8	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.T261I	ENST00000295452.4	37	c.782	CCDS3470.1	4	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736838	0.89482	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	T	0.80214	-1.35	5.82	5.82	0.92795	Neurotransmitter-gated ion-channel ligand-binding (3);	0.101073	0.64402	D	0.000002	D	0.84624	0.5513	L	0.42581	1.335	0.58432	D	0.999992	P	0.49447	0.924	P	0.55455	0.776	D	0.85445	0.1157	10	0.87932	D	0	.	19.1446	0.93459	0.0:0.0:1.0:0.0	.	261	Q8N1C3	GBRG1_HUMAN	I	261	ENSP00000295452:T261I	ENSP00000295452:T261I	T	-	2	0	GABRG1	45755125	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.839000	0.86812	2.771000	0.95319	0.644000	0.83932	ACA	GABRG1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel		0.294	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRG1	HGNC	protein_coding	OTTHUMT00000250470.1	G	NM_173536		46060368	-1	no_errors	ENST00000295452	ensembl	human	known	70_37	missense	SNP	1.000	A
GALNT15	117248	genome.wustl.edu	37	3	16273312	16273312	+	IGR	SNP	G	G	T			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr3:16273312G>T	ENST00000339732.5	+	0	4669				GALNT15_ENST00000437509.1_Missense_Mutation_p.A596S	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15						cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										TGAGAACAGGGCCAACTCTGC	0.448																																																	0																																										SO:0001628	intergenic_variant	117248			AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	21531	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 15"""	615131	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"""	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893		3.37:g.16273312G>T			A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.A596S	ENST00000339732.5	37	c.1786	CCDS33711.1	3	.	.	.	.	.	.	.	.	.	.	G	6.904	0.536385	0.13188	.	.	ENSG00000131386	ENST00000437509	T	0.56776	0.44	2.38	-1.63	0.08345	.	.	.	.	.	T	0.37489	0.1005	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32428	-0.9907	6	0.27785	T	0.31	.	6.2815	0.21009	0.5656:0.0:0.4344:0.0	.	.	.	.	S	596	ENSP00000395873:A596S	ENSP00000395873:A596S	A	+	1	0	GALNTL2	16248316	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.991000	0.03728	-0.491000	0.06697	-0.264000	0.10439	GCC	GALNTL2	-	NULL		0.448	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL2	HGNC	protein_coding	OTTHUMT00000346483.2	G	NM_054110		16273312	+1	no_errors	ENST00000437509	ensembl	human	putative	70_37	missense	SNP	0.000	T
GPR50	9248	genome.wustl.edu	37	X	150348926	150348926	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chrX:150348926G>A	ENST00000218316.3	+	2	940	c.871G>A	c.(871-873)Gct>Act	p.A291T	AF003625.3_ENST00000602313.1_lincRNA|GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	291					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCCTCAACGCTGTGATCTA	0.502																																																	0													110.0	106.0	107.0					X																	150348926		2032	4181	6213	SO:0001583	missense	9248			U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.871G>A	X.37:g.150348926G>A	ENSP00000218316:p.Ala291Thr		Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mel_rcpt_1X,prints_GPCR_Rhodpsn,prints_Melatonin_rcpt,prints_NPY_rcpt	p.A291T	ENST00000218316.3	37	c.871	CCDS44012.1	X	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131063	0.77549	.	.	ENSG00000102195	ENST00000218316	T	0.71817	-0.6	4.24	3.35	0.38373	GPCR, rhodopsin-like superfamily (1);	0.051546	0.85682	D	0.000000	T	0.81187	0.4770	M	0.91972	3.26	0.45087	D	0.998109	P	0.47034	0.889	P	0.50659	0.647	D	0.83595	0.0125	10	0.87932	D	0	-8.8181	11.1668	0.48547	0.0:0.184:0.816:0.0	.	291	Q13585	MTR1L_HUMAN	T	291	ENSP00000218316:A291T	ENSP00000218316:A291T	A	+	1	0	GPR50	150099584	1.000000	0.71417	0.969000	0.41365	0.962000	0.63368	6.623000	0.74238	0.713000	0.32060	-0.516000	0.04426	GCT	GPR50	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.502	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR50	HGNC	protein_coding	OTTHUMT00000060874.1	G	NM_004224		150348926	+1	no_errors	ENST00000218316	ensembl	human	known	70_37	missense	SNP	1.000	A
GSTM3	2947	genome.wustl.edu	37	1	110279794	110279794	+	Intron	SNP	G	G	A			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr1:110279794G>A	ENST00000540225.1	-	9	890				GSTM3_ENST00000256594.3_Intron|RP4-735C1.4_ENST00000431955.1_RNA|GSTM3_ENST00000488824.1_Intron|GSTM3_ENST00000361066.2_Intron			P21266	GSTM3_HUMAN	glutathione S-transferase mu 3 (brain)						cellular detoxification of nitrogen compound (GO:0070458)|establishment of blood-nerve barrier (GO:0008065)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|nitrobenzene metabolic process (GO:0018916)|response to estrogen (GO:0043627)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1)	9		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)|Vitamin E(DB00163)	TCCAAAGCCTGAAAGGAAAAT	0.483																																																	0													82.0	77.0	79.0					1																	110279794		2203	4300	6503	SO:0001627	intron_variant	2947			BC000088	CCDS812.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134202	ENSG00000134202	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4635	protein-coding gene	gene with protein product		138390	"""glutathione S-transferase M3 (brain)"""			2345169	Standard	NM_000849		Approved	GST5	uc001dyo.2	P21266	OTTHUMG00000011640	ENST00000540225.1:c.580-3C>T	1.37:g.110279794G>A			O60550|Q96HA3	RNA	SNP	-	NULL	ENST00000540225.1	37	NULL	CCDS812.1	1																																																																																			GSTM3	-	-		0.483	GSTM3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTM3	HGNC	protein_coding	OTTHUMT00000032182.1	G	NM_000849		110279794	-1	no_errors	ENST00000476321	ensembl	human	known	70_37	rna	SNP	0.985	A
HSD17B4	3295	genome.wustl.edu	37	5	118832280	118832280	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr5:118832280C>T	ENST00000256216.6	+	12	1044	c.911C>T	c.(910-912)tCa>tTa	p.S304L	HSD17B4_ENST00000414835.2_Missense_Mutation_p.S164L|HSD17B4_ENST00000513628.1_Missense_Mutation_p.S167L|HSD17B4_ENST00000510025.1_Missense_Mutation_p.S280L|HSD17B4_ENST00000509514.1_Missense_Mutation_p.S42L|HSD17B4_ENST00000504811.1_Missense_Mutation_p.S329L|HSD17B4_ENST00000515320.1_Missense_Mutation_p.S286L	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	304	(3R)-hydroxyacyl-CoA dehydrogenase.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		AAAATAGATTCAGAAGGAGGA	0.343																																					Colon(35;490 801 34689 41394 43344)												0													125.0	133.0	130.0					5																	118832280		2202	4300	6502	SO:0001583	missense	3295				CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5213	protein-coding gene	gene with protein product	"""17beta-estradiol dehydrogenase type IV"", ""peroxisomal multifunctional protein 2"", ""17-beta-HSD IV"", ""17-beta-hydroxysteroid dehydrogenase 4"", ""D-bifunctional protein, peroxisomal"", ""D-3-hydroxyacyl-CoA dehydratase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase"", ""beta-keto-reductase"", ""beta-hydroxyacyl dehydrogenase"", ""short chain dehydrogenase/reductase family 8C, member 1"""	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.911C>T	5.37:g.118832280C>T	ENSP00000256216:p.Ser304Leu		B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.S304L	ENST00000256216.6	37	c.911	CCDS4126.1	5	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214699	0.58452	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628;ENST00000509514	D;T;T;T;D;T;T	0.82433	-1.61;-1.29;-1.25;-1.27;-1.59;-1.46;-0.96	5.41	4.48	0.54585	.	0.410909	0.26731	N	0.022791	D	0.86053	0.5841	M	0.87547	2.89	0.35940	D	0.833144	B;B;B;D;B	0.54964	0.252;0.007;0.009;0.969;0.02	B;B;B;P;B	0.46110	0.014;0.007;0.012;0.504;0.01	D	0.90740	0.4649	10	0.51188	T	0.08	-9.0922	12.9488	0.58388	0.1616:0.8384:0.0:0.0	.	329;286;280;42;304	F5HE57;E9PB82;E7EWE5;E7EPL9;P51659	.;.;.;.;DHB4_HUMAN	L	304;286;280;329;164;167;42	ENSP00000256216:S304L;ENSP00000424613:S286L;ENSP00000424940:S280L;ENSP00000420914:S329L;ENSP00000411960:S164L;ENSP00000425993:S167L;ENSP00000426272:S42L	ENSP00000256216:S304L	S	+	2	0	HSD17B4	118860179	0.994000	0.37717	0.969000	0.41365	0.987000	0.75469	2.623000	0.46435	2.536000	0.85505	0.650000	0.86243	TCA	HSD17B4	-	NULL		0.343	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B4	HGNC	protein_coding	OTTHUMT00000250863.3	C	NM_000414		118832280	+1	no_errors	ENST00000256216	ensembl	human	known	70_37	missense	SNP	0.921	T
ICOSLG	23308	genome.wustl.edu	37	21	45649510	45649510	+	Intron	SNP	A	A	G	rs13048869		TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr21:45649510A>G	ENST00000407780.3	-	6	1026				ICOSLG_ENST00000400377.3_Intron|ICOSLG_ENST00000400379.3_Missense_Mutation_p.L442P|ICOSLG_ENST00000344330.4_Intron	NM_001283052.1	NP_001269981.1	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand						B cell activation (GO:0042113)|defense response (GO:0006952)|hyperosmotic response (GO:0006972)|positive regulation of activated T cell proliferation (GO:0042104)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		GACACCCCACAGGGGCTGGGC	0.716																																																	0																																										SO:0001627	intron_variant	23308			AB014553	CCDS42952.1, CCDS63377.1, CCDS63379.1	21q22.3	2014-01-30		2005-01-12	ENSG00000160223	ENSG00000160223		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Endogenous ligands"""	17087	protein-coding gene	gene with protein product	"""B7-related protein 1"", ""B7 homologue 2"", ""B7 homolog 2"""	605717		ICOSL		9734811, 11007762	Standard	NM_001283050		Approved	KIAA0653, GL50, B7-H2, B7RP-1, B7H2, B7RP1, ICOS-L, CD275	uc002zee.3	O75144	OTTHUMG00000086920	ENST00000407780.3:c.898+426T>C	21.37:g.45649510A>G			A8MUZ1|Q9HD18|Q9NRQ1	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like	p.L442P	ENST00000407780.3	37	c.1325	CCDS42952.1	21	.	.	.	.	.	.	.	.	.	.	A	0.046	-1.266305	0.01433	.	.	ENSG00000160223	ENST00000400379	T	0.02121	4.44	0.436	-0.871	0.10642	.	.	.	.	.	T	0.02156	0.0067	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.44421	-0.9329	5	0.72032	D	0.01	.	.	.	.	rs13048869;rs56727969	.	.	.	P	442	ENSP00000383230:L442P	ENSP00000383230:L442P	L	-	2	0	ICOSLG	44473938	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.961000	0.01516	-2.818000	0.00344	-3.342000	0.00043	CTG	ICOSLG	-	NULL		0.716	ICOSLG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ICOSLG	HGNC	protein_coding	OTTHUMT00000195838.1	A	NM_015259		45649510	-1	no_errors	ENST00000400379	ensembl	human	putative	70_37	missense	SNP	0.000	G
JAKMIP1	152789	genome.wustl.edu	37	4	6086678	6086678	+	Silent	SNP	G	G	A			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr4:6086678G>A	ENST00000282924.5	-	5	1334	c.849C>T	c.(847-849)gaC>gaT	p.D283D	JAKMIP1_ENST00000409371.3_Silent_p.D118D|JAKMIP1_ENST00000409021.3_Silent_p.D283D|JAKMIP1_ENST00000410077.2_Silent_p.D118D|JAKMIP1_ENST00000409831.1_Silent_p.D283D|JAKMIP1_ENST00000457227.2_5'UTR	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	283	Mediates association with microtubules.				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						CATCTCGCTCGTCCATATGTT	0.358																																																	0													145.0	138.0	141.0					4																	6086678		2203	4300	6503	SO:0001819	synonymous_variant	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	ENST00000282924.5:c.849C>T	4.37:g.6086678G>A			A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Silent	SNP	NULL	p.D283	ENST00000282924.5	37	c.849	CCDS3385.1	4																																																																																			JAKMIP1	-	NULL		0.358	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAKMIP1	HGNC	protein_coding	OTTHUMT00000246816.2	G	NM_144720		6086678	-1	no_errors	ENST00000409021	ensembl	human	known	70_37	silent	SNP	0.786	A
JRKL	8690	genome.wustl.edu	37	11	96124324	96124324	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr11:96124324G>A	ENST00000332349.4	+	2	758	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	CCDC82_ENST00000525786.1_5'Flank|JRKL_ENST00000546177.1_Intron|CCDC82_ENST00000542662.1_5'Flank|JRKL_ENST00000458427.1_Missense_Mutation_p.E171K	NM_001261833.1	NP_001248762.1	Q9Y4A0	JERKL_HUMAN	JRK-like	171	DDE.				central nervous system development (GO:0007417)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		tttacagcctgaacaaatcta	0.368																																																	0													25.0	23.0	24.0					11																	96124324		2198	4281	6479	SO:0001583	missense	8690			AF004715	CCDS8308.1	11q21	2014-03-28	2014-03-28		ENSG00000183340	ENSG00000183340			6200	protein-coding gene	gene with protein product		603211	"""erky (mouse) homolog-like"", ""jerky homolog-like (mouse)"""			9240447	Standard	NM_003772		Approved	HHMJG	uc009ywu.4	Q9Y4A0	OTTHUMG00000154950	ENST00000332349.4:c.511G>A	11.37:g.96124324G>A	ENSP00000333350:p.Glu171Lys		A8K3G4|B2RAJ3|Q32MC2	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.E171K	ENST00000332349.4	37	c.511	CCDS8308.1	11	.	.	.	.	.	.	.	.	.	.	G	18.89	3.719439	0.68844	.	.	ENSG00000183340	ENST00000332349;ENST00000458427	T;T	0.42513	0.97;0.97	4.85	4.85	0.62838	.	0.000000	0.41712	D	0.000829	T	0.50973	0.1647	L	0.39397	1.21	0.34860	D	0.742493	D	0.63046	0.992	D	0.64410	0.925	T	0.57843	-0.7741	10	0.27785	T	0.31	.	13.4688	0.61271	0.0:0.0:1.0:0.0	.	171	Q9Y4A0	JERKL_HUMAN	K	171	ENSP00000333350:E171K;ENSP00000389989:E171K	ENSP00000333350:E171K	E	+	1	0	JRKL	95763972	1.000000	0.71417	0.353000	0.25747	0.995000	0.86356	5.007000	0.63984	2.242000	0.73789	0.462000	0.41574	GAA	JRKL	-	pfam_DDE_SF_endonuclease_CENPB-like		0.368	JRKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JRKL	HGNC	protein_coding	OTTHUMT00000337775.2	G	NM_003772		96124324	+1	no_errors	ENST00000332349	ensembl	human	known	70_37	missense	SNP	0.762	A
KCNJ4	3761	genome.wustl.edu	37	22	38824095	38824095	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr22:38824095G>A	ENST00000303592.3	-	2	301	c.43C>T	c.(43-45)Cgg>Tgg	p.R15W	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	15					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)					CGGCGCTTCCGCCGGGGCACG	0.642																																																	0													223.0	199.0	207.0					22																	38824095		2203	4300	6503	SO:0001583	missense	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.43C>T	22.37:g.38824095G>A	ENSP00000306497:p.Arg15Trp		Q14D44	Missense_Mutation	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.R15W	ENST00000303592.3	37	c.43	CCDS13971.1	22	.	.	.	.	.	.	.	.	.	.	G	18.10	3.549229	0.65311	.	.	ENSG00000168135	ENST00000303592	D	0.90563	-2.69	4.4	4.4	0.53042	.	0.798765	0.11373	N	0.570709	D	0.94896	0.8350	M	0.88704	2.975	0.44388	D	0.997299	D	0.76494	0.999	P	0.55667	0.781	D	0.94561	0.7762	10	0.87932	D	0	.	14.0222	0.64563	0.0:0.0:0.8485:0.1515	.	15	P48050	IRK4_HUMAN	W	15	ENSP00000306497:R15W	ENSP00000306497:R15W	R	-	1	2	KCNJ4	37154041	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.639000	0.46570	2.182000	0.69389	0.555000	0.69702	CGG	KCNJ4	-	pirsf_K_chnl_inward-rec_Kir		0.642	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ4	HGNC	protein_coding	OTTHUMT00000321447.1	G	NM_004981		38824095	-1	no_errors	ENST00000303592	ensembl	human	known	70_37	missense	SNP	1.000	A
KIAA0040	9674	genome.wustl.edu	37	1	175129897	175129897	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr1:175129897G>A	ENST00000423313.1	-	4	789	c.253C>T	c.(253-255)Caa>Taa	p.Q85*	KIAA0040_ENST00000545251.2_Nonsense_Mutation_p.Q85*|KIAA0040_ENST00000567124.1_5'Flank|KIAA0040_ENST00000444639.1_Nonsense_Mutation_p.Q85*	NM_001162893.1|NM_001162895.1|NM_014656.2	NP_001156365.1|NP_001156367.1|NP_055471.2	Q15053	K0040_HUMAN	KIAA0040	0																	AGCTTGGGTTGAGCAGAGATC	0.512																																																	0													130.0	109.0	115.0					1																	175129897		692	1591	2283	SO:0001587	stop_gained	9674			D25539		1q24-q25	2012-11-29			ENSG00000235750	ENSG00000235750			28950	protein-coding gene	gene with protein product							Standard	NM_014656		Approved		uc001gkn.3	Q15053	OTTHUMG00000034880	ENST00000423313.1:c.253C>T	1.37:g.175129897G>A	ENSP00000462172:p.Gln85*		A8K9H6|Q2NKQ0	Nonsense_Mutation	SNP	NULL	p.Q85*	ENST00000423313.1	37	c.253		1																																																																																			KIAA0040	-	NULL		0.512	KIAA0040-002	KNOWN	basic|appris_principal	protein_coding	KIAA0040	HGNC	protein_coding	OTTHUMT00000084420.3	G	NM_014656		175129897	-1	no_errors	ENST00000423313	ensembl	human	known	70_37	nonsense	SNP	0.973	A
KIF3B	9371	genome.wustl.edu	37	20	30898823	30898823	+	Silent	SNP	C	C	A			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr20:30898823C>A	ENST00000375712.3	+	2	1410	c.1243C>A	c.(1243-1245)Cgg>Agg	p.R415R	KIF3B_ENST00000418717.2_Intron	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	415					anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGATTACTGGCGGGAACAGCA	0.547																																																	0													70.0	64.0	66.0					20																	30898823		2203	4300	6503	SO:0001819	synonymous_variant	9371			AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.1243C>A	20.37:g.30898823C>A			B2RMP4|B4DSR5|E1P5M5	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R415	ENST00000375712.3	37	c.1243	CCDS13200.1	20																																																																																			KIF3B	-	NULL		0.547	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF3B	HGNC	protein_coding	OTTHUMT00000078619.1	C	NM_004798		30898823	+1	no_errors	ENST00000375712	ensembl	human	known	70_37	silent	SNP	0.992	A
LAMA2	3908	genome.wustl.edu	37	6	129618862	129618862	+	Silent	SNP	C	C	T			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr6:129618862C>T	ENST00000421865.2	+	21	2938	c.2889C>T	c.(2887-2889)ggC>ggT	p.G963G		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	963	Laminin EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CAGCAAGGGGCTGTGTTCCCT	0.453																																																	0													104.0	92.0	96.0					6																	129618862		2203	4300	6503	SO:0001819	synonymous_variant	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.2889C>T	6.37:g.129618862C>T			Q14736|Q5VUM2|Q93022	Silent	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.G963	ENST00000421865.2	37	c.2889	CCDS5138.1	6																																																																																			LAMA2	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin		0.453	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	C			129618862	+1	no_errors	ENST00000421865	ensembl	human	known	70_37	silent	SNP	0.484	T
LHX8	431707	genome.wustl.edu	37	1	75602794	75602794	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr1:75602794G>A	ENST00000294638.5	+	4	779	c.115G>A	c.(115-117)Gag>Aag	p.E39K	LHX8_ENST00000356261.3_Missense_Mutation_p.E29K|LHX8_ENST00000559413.1_3'UTR	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	39					female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.E39K(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						GGTGAGCCCCGAGGGAGCGGG	0.731																																																	1	Substitution - Missense(1)	lung(1)											23.0	27.0	26.0					1																	75602794		2202	4298	6500	SO:0001583	missense	431707			AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"""Homeoboxes / LIM class"""	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.115G>A	1.37:g.75602794G>A	ENSP00000294638:p.Glu39Lys		E9PGE3	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain	p.E39K	ENST00000294638.5	37	c.115	CCDS30756.1	1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349123	0.61183	.	.	ENSG00000162624	ENST00000294638;ENST00000356261	D;D	0.86164	-2.08;-2.07	5.32	4.41	0.53225	.	0.435271	0.21649	N	0.071219	T	0.59348	0.2187	N	0.19112	0.55	0.28912	N	0.892678	B	0.24368	0.102	B	0.10450	0.005	T	0.42224	-0.9464	10	0.12766	T	0.61	.	12.0138	0.53303	0.1445:0.0:0.8555:0.0	.	39	Q68G74	LHX8_HUMAN	K	39;29	ENSP00000294638:E39K;ENSP00000348597:E29K	ENSP00000294638:E39K	E	+	1	0	LHX8	75375382	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	2.817000	0.48034	1.250000	0.43966	0.555000	0.69702	GAG	LHX8	-	NULL		0.731	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LHX8	HGNC	protein_coding	OTTHUMT00000026700.1	G	NM_001001933		75602794	+1	no_errors	ENST00000294638	ensembl	human	known	70_37	missense	SNP	1.000	A
RBM5	10181	genome.wustl.edu	37	3	50153540	50153540	+	Intron	SNP	C	C	T			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr3:50153540C>T	ENST00000347869.3	+	22	2269				RP11-493K19.3_ENST00000425674.1_RNA|RP11-493K19.3_ENST00000437204.1_RNA	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5						apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTCATCTGACCATTGTAGTTC	0.478																																																	0																																										SO:0001627	intron_variant	100129060			U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.2094+127C>T	3.37:g.50153540C>T			B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	RNA	SNP	-	NULL	ENST00000347869.3	37	NULL	CCDS2810.1	3																																																																																			RP11-493K19.3	-	-		0.478	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100129060	Clone_based_vega_gene	protein_coding	OTTHUMT00000345797.3	C	NM_005778		50153540	-1	no_errors	ENST00000437204	ensembl	human	known	70_37	rna	SNP	0.001	T
LINC01410	103352539	genome.wustl.edu	37	9	66466586	66466586	+	lincRNA	SNP	G	G	A	rs74456634		TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr9:66466586G>A	ENST00000424345.1	+	0	1219																											aacaaaaccagccccttcctc	0.423																																																	0																																												100996870																															9.37:g.66466586G>A				RNA	SNP	-	NULL	ENST00000424345.1	37	NULL		9																																																																																			RP11-262H14.1	-	-		0.423	RP11-262H14.1-001	KNOWN	basic	lincRNA	LOC100996870	Clone_based_vega_gene	lincRNA	OTTHUMT00000128851.1	G			66466586	+1	no_errors	ENST00000424345	ensembl	human	known	70_37	rna	SNP	0.021	A
LINC01410	103352539	genome.wustl.edu	37	9	66466602	66466602	+	lincRNA	SNP	C	C	T			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr9:66466602C>T	ENST00000424345.1	+	0	1235																											tcctcggggccaagagaattt	0.448																																																	0																																												100996870																															9.37:g.66466602C>T				RNA	SNP	-	NULL	ENST00000424345.1	37	NULL		9																																																																																			RP11-262H14.1	-	-		0.448	RP11-262H14.1-001	KNOWN	basic	lincRNA	LOC100996870	Clone_based_vega_gene	lincRNA	OTTHUMT00000128851.1	C			66466602	+1	no_errors	ENST00000424345	ensembl	human	known	70_37	rna	SNP	0.008	T
MALAT1	378938	genome.wustl.edu	37	11	65272311	65272311	+	lincRNA	SNP	T	T	A			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr11:65272311T>A	ENST00000534336.1	+	0	7079					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		CAGACACACGTATGCGAAGGG	0.413																																																	0													69.0	69.0	69.0					11																	65272311		874	1988	2862			378938			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65272311T>A				RNA	SNP	-	NULL	ENST00000534336.1	37	NULL		11																																																																																			MALAT1	-	-		0.413	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	HGNC	lincRNA	OTTHUMT00000389143.1	T	NR_002819		65272311	+1	no_errors	ENST00000534336	ensembl	human	known	70_37	rna	SNP	0.000	A
MAML1	9794	genome.wustl.edu	37	5	179201801	179201801	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr5:179201801C>G	ENST00000292599.3	+	5	3237	c.2974C>G	c.(2974-2976)Ctg>Gtg	p.L992V	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACACACCGATCTGATCGACTC	0.557																																																	0													89.0	83.0	85.0					5																	179201801		2203	4300	6503	SO:0001583	missense	9794			D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.2974C>G	5.37:g.179201801C>G	ENSP00000292599:p.Leu992Val			Missense_Mutation	SNP	pfam_Neuroggenic_mastermind-like_N	p.L992V	ENST00000292599.3	37	c.2974	CCDS34315.1	5	.	.	.	.	.	.	.	.	.	.	C	19.07	3.755555	0.69648	.	.	ENSG00000161021	ENST00000292599	T	0.43294	0.95	5.27	4.41	0.53225	.	0.000000	0.56097	D	0.000033	T	0.64000	0.2559	M	0.73962	2.25	0.58432	D	0.999993	D	0.89917	1.0	D	0.85130	0.997	T	0.68439	-0.5408	10	0.72032	D	0.01	-19.9684	13.9601	0.64172	0.0:0.9262:0.0:0.0738	.	992	Q92585	MAML1_HUMAN	V	992	ENSP00000292599:L992V	ENSP00000292599:L992V	L	+	1	2	MAML1	179134407	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	3.424000	0.52764	1.229000	0.43630	0.555000	0.69702	CTG	MAML1	-	NULL		0.557	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML1	HGNC	protein_coding	OTTHUMT00000372316.2	C	NM_014757		179201801	+1	no_errors	ENST00000292599	ensembl	human	known	70_37	missense	SNP	1.000	G
MESP2	145873	genome.wustl.edu	37	15	90320500	90320500	+	Silent	SNP	C	C	T			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr15:90320500C>T	ENST00000341735.3	+	1	912	c.912C>T	c.(910-912)gcC>gcT	p.A304A	MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	304					mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			TGGAGCTGGCCGCAGTGTACC	0.612																																																	0													10.0	12.0	11.0					15																	90320500		1871	4057	5928	SO:0001819	synonymous_variant	145873				CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"""Basic helix-loop-helix proteins"""	29659	protein-coding gene	gene with protein product		605195	"""mesoderm posterior 2 homolog (mouse)"""			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.912C>T	15.37:g.90320500C>T			Q7RTU2	Silent	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.A304	ENST00000341735.3	37	c.912	CCDS42078.1	15																																																																																			MESP2	-	NULL		0.612	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MESP2	HGNC	protein_coding	OTTHUMT00000416421.1	C	XM_085261		90320500	+1	no_errors	ENST00000341735	ensembl	human	known	70_37	silent	SNP	0.565	T
ATP6V0A1	535	genome.wustl.edu	37	17	40666231	40666231	+	Intron	SNP	G	G	A			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr17:40666231G>A	ENST00000343619.4	+	21	2371				ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000537728.1_Intron|ATP6V0A1_ENST00000546249.1_Intron|ATP6V0A1_ENST00000585525.1_Intron|ATP6V0A1_ENST00000264649.6_Intron|MIR5010_ENST00000582846.1_RNA|RP11-400F19.18_ENST00000591237.1_RNA|ATP6V0A1_ENST00000393829.2_Intron	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1						ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		AGAGCAGGGGGATGGCAGAGC	0.552																																																	0																																										SO:0001627	intron_variant	100847046			U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.2249-76G>A	17.37:g.40666231G>A			B7Z3B7|Q8N5G7|Q9NSX0	RNA	SNP	-	NULL	ENST00000343619.4	37	NULL	CCDS45684.1	17																																																																																			MIR5010	-	-		0.552	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	MIR5010	HGNC	protein_coding	OTTHUMT00000450364.1	G	NM_001130020		40666231	+1	no_errors	ENST00000582846	ensembl	human	known	70_37	rna	SNP	0.000	A
KMT2C	58508	genome.wustl.edu	37	7	151848547	151848548	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr7:151848547_151848548insT	ENST00000262189.6	-	50	12863_12864	c.12645_12646insA	c.(12643-12648)aaagatfs	p.D4216fs	KMT2C_ENST00000355193.2_Frame_Shift_Ins_p.D4273fs|KMT2C_ENST00000485241.1_5'Flank	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4216					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AGGGTCAGATCTTTGAAAGATT	0.45																																																	0																																										SO:0001589	frameshift_variant	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.12646dupA	7.37:g.151848550_151848550dupT	ENSP00000262189:p.Asp4216fs		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Ins	INS	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.D4272fs	ENST00000262189.6	37	c.12817_12816	CCDS5931.1	7																																																																																			MLL3	-	NULL		0.450	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	-			151848548	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	T
MUC12	10071	genome.wustl.edu	37	7	100642488	100642488	+	Missense_Mutation	SNP	T	T	A			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr7:100642488T>A	ENST00000379442.3	+	5	9073	c.9073T>A	c.(9073-9075)Tcc>Acc	p.S3025T	MUC12_ENST00000536621.1_Missense_Mutation_p.S2882T			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	3025	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						CAGTGAAGAATCCAGCACATC	0.542																																																	0													67.0	126.0	109.0					7																	100642488		385	980	1365	SO:0001583	missense	10071			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.9073T>A	7.37:g.100642488T>A	ENSP00000368755:p.Ser3025Thr		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.S3025T	ENST00000379442.3	37	c.9073		7	.	.	.	.	.	.	.	.	.	.	T	5.760	0.324609	0.10900	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.12147	2.71;2.71	0.472	-0.837	0.10766	.	.	.	.	.	T	0.04634	0.0126	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.43686	-0.9376	6	0.10636	T	0.68	.	.	.	.	.	.	.	.	T	3025;2882	ENSP00000368755:S3025T;ENSP00000441929:S2882T	ENSP00000368755:S3025T	S	+	1	0	MUC12	100429208	0.001000	0.12720	0.008000	0.14137	0.011000	0.07611	0.291000	0.18994	-0.395000	0.07715	0.145000	0.16022	TCC	MUC12	-	NULL		0.542	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	T	XM_379904		100642488	+1	no_errors	ENST00000379442	ensembl	human	known	70_37	missense	SNP	0.009	A
MUC12	10071	genome.wustl.edu	37	7	100646665	100646665	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr7:100646665C>A	ENST00000379442.3	+	5	13250	c.13250C>A	c.(13249-13251)aCc>aAc	p.T4417N	MUC12_ENST00000536621.1_Missense_Mutation_p.T4274N			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	4417	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						GAATCTACTACCTTCCACAGC	0.552																																																	0													294.0	317.0	310.0					7																	100646665		686	1590	2276	SO:0001583	missense	10071			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.13250C>A	7.37:g.100646665C>A	ENSP00000368755:p.Thr4417Asn		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.T4417N	ENST00000379442.3	37	c.13250		7	.	.	.	.	.	.	.	.	.	.	c	1.210	-0.629946	0.03610	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.12039	2.72;2.72	1.02	0.0674	0.14366	.	.	.	.	.	T	0.06234	0.0161	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.40627	-0.9553	7	0.32370	T	0.25	.	5.1811	0.15160	0.0:0.7668:0.0:0.2332	.	.	.	.	N	4417;4274	ENSP00000368755:T4417N;ENSP00000441929:T4274N	ENSP00000368755:T4417N	T	+	2	0	MUC12	100433385	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.005000	0.12855	0.019000	0.15079	0.423000	0.28283	ACC	MUC12	-	NULL		0.552	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	C	XM_379904		100646665	+1	no_errors	ENST00000379442	ensembl	human	known	70_37	missense	SNP	0.001	A
KMT2C	58508	genome.wustl.edu	37	7	151902278	151902278	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr7:151902278G>A	ENST00000262189.6	-	25	4092	c.3874C>T	c.(3874-3876)Cga>Tga	p.R1292*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.R1292*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1292					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGCCCAGTTCGACTTCTTTGC	0.403																																																	0													81.0	76.0	78.0					7																	151902278		2203	4297	6500	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3874C>T	7.37:g.151902278G>A	ENSP00000262189:p.Arg1292*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.R1292*	ENST00000262189.6	37	c.3874	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	45	12.023801	0.99628	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.71	5.71	0.89125	.	0.000000	0.39615	N	0.001316	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.8604	0.96781	0.0:0.0:1.0:0.0	.	.	.	.	X	1292	.	ENSP00000262189:R1292X	R	-	1	2	MLL3	151533211	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.891000	0.75639	2.699000	0.92147	0.650000	0.86243	CGA	MLL3	-	NULL		0.403	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151902278	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	nonsense	SNP	1.000	A
NES	10763	genome.wustl.edu	37	1	156641574	156641574	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr1:156641574C>A	ENST00000368223.3	-	4	2538	c.2406G>T	c.(2404-2406)gaG>gaT	p.E802D		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	802	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACTCTTGATTCTCATTTTCAA	0.423																																																	0													83.0	78.0	80.0					1																	156641574		2203	4300	6503	SO:0001583	missense	10763			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.2406G>T	1.37:g.156641574C>A	ENSP00000357206:p.Glu802Asp		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	pfam_F	p.E802D	ENST00000368223.3	37	c.2406	CCDS1151.1	1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.512105	0.64522	.	.	ENSG00000132688	ENST00000368223	D	0.86865	-2.18	5.4	3.53	0.40419	.	0.235958	0.21953	N	0.066714	T	0.72566	0.3476	L	0.54323	1.7	0.36716	D	0.880924	B	0.25390	0.125	B	0.22753	0.041	T	0.68507	-0.5390	10	0.49607	T	0.09	.	7.5502	0.27793	0.0:0.745:0.1663:0.0887	.	802	P48681	NEST_HUMAN	D	802	ENSP00000357206:E802D	ENSP00000357206:E802D	E	-	3	2	NES	154908198	0.000000	0.05858	0.013000	0.15412	0.777000	0.43975	0.008000	0.13197	0.661000	0.30985	0.563000	0.77884	GAG	NES	-	NULL		0.423	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NES	HGNC	protein_coding	OTTHUMT00000082844.2	C	NM_006617		156641574	-1	no_errors	ENST00000368223	ensembl	human	known	70_37	missense	SNP	0.920	A
NPDC1	56654	genome.wustl.edu	37	9	139935437	139935437	+	Splice_Site	SNP	C	C	T			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr9:139935437C>T	ENST00000371601.4	-	4	599		c.e4-1		NPDC1_ENST00000371600.3_Splice_Site|NPDC1_ENST00000488145.1_5'UTR	NM_015392.3	NP_056207.3	Q9NQX5	NPDC1_HUMAN	neural proliferation, differentiation and control, 1							integral component of membrane (GO:0016021)				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		CCCAGGGTGGCTGCGAGAGAG	0.716																																																	0													16.0	23.0	20.0					9																	139935437		2198	4290	6488	SO:0001630	splice_region_variant	56654			AF285836	CCDS7024.1	9q34.3	2008-07-21			ENSG00000107281	ENSG00000107281			7899	protein-coding gene	gene with protein product		605798				11245976	Standard	NM_015392		Approved	DKFZp586J0523, CAB-, CAB1	uc004ckt.2	Q9NQX5	OTTHUMG00000020956	ENST00000371601.4:c.386-1G>A	9.37:g.139935437C>T			Q5SPY8|Q9BTD6|Q9BXT3|Q9NQS2|Q9Y434	Splice_Site	SNP	-	e3-1	ENST00000371601.4	37	c.620-1	CCDS7024.1	9	.	.	.	.	.	.	.	.	.	.	C	7.888	0.731674	0.15507	.	.	ENSG00000107281	ENST00000371600;ENST00000371601	.	.	.	4.13	3.17	0.36434	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8994	0.41338	0.0:0.7931:0.2068:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NPDC1	139055258	0.993000	0.37304	0.993000	0.49108	0.190000	0.23558	1.703000	0.37846	1.834000	0.53371	0.471000	0.43371	.	NPDC1	-	-		0.716	NPDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPDC1	HGNC	protein_coding	OTTHUMT00000055182.1	C	NM_015392	Intron	139935437	-1	no_errors	ENST00000371600	ensembl	human	known	70_37	splice_site	SNP	0.979	T
NXF3	56000	genome.wustl.edu	37	X	102338372	102338372	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chrX:102338372G>A	ENST00000395065.3	-	5	595	c.494C>T	c.(493-495)gCa>gTa	p.A165V	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Missense_Mutation_p.A76V	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	165	RRM.				mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						ATTCTTCAGTGCATAGGCGAT	0.463																																																	0													124.0	96.0	105.0					X																	102338372		2203	4300	6503	SO:0001583	missense	56000			AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.494C>T	X.37:g.102338372G>A	ENSP00000378504:p.Ala165Val		B4DYS7|Q5H9I1|Q9H1A9	Missense_Mutation	SNP	pfam_Tap_RNA-bd,pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk	p.A165V	ENST00000395065.3	37	c.494	CCDS14503.1	X	.	.	.	.	.	.	.	.	.	.	G	14.82	2.650185	0.47362	.	.	ENSG00000147206	ENST00000395065;ENST00000425463	T;T	0.56776	0.44;0.44	3.78	-0.356	0.12583	Nuclear RNA export factor Tap, RNA-binding domain (2);Nucleotide-binding, alpha-beta plait (1);	0.344322	0.33023	N	0.005368	T	0.60586	0.2280	M	0.78637	2.42	0.09310	N	1	D;P;P	0.60160	0.987;0.9;0.941	P;P;P	0.62491	0.884;0.675;0.903	T	0.52555	-0.8560	10	0.56958	D	0.05	-2.2105	2.4945	0.04618	0.261:0.0:0.3287:0.4103	.	165;61;165	B4DYI1;E9PEY7;Q9H4D5	.;.;NXF3_HUMAN	V	165;76	ENSP00000378504:A165V;ENSP00000404347:A76V	ENSP00000378504:A165V	A	-	2	0	NXF3	102225028	0.363000	0.24989	0.000000	0.03702	0.011000	0.07611	1.883000	0.39658	-0.209000	0.10156	0.600000	0.82982	GCA	NXF3	-	pfam_Tap_RNA-bd		0.463	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF3	HGNC	protein_coding	OTTHUMT00000057684.1	G	NM_022052		102338372	-1	no_errors	ENST00000395065	ensembl	human	known	70_37	missense	SNP	0.002	A
OVCH1	341350	genome.wustl.edu	37	12	29639271	29639271	+	Silent	SNP	C	C	T			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr12:29639271C>T	ENST00000318184.5	-	8	902	c.903G>A	c.(901-903)cgG>cgA	p.R301R	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	301	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GGGGTTGGCCCCGATCCAAAC	0.388																																																	0													74.0	69.0	70.0					12																	29639271		1806	4078	5884	SO:0001819	synonymous_variant	341350			BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.903G>A	12.37:g.29639271C>T				Silent	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,smart_Peptidase_S1_S6,smart_CUB,pfscan_CUB,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.R301	ENST00000318184.5	37	c.903		12																																																																																			OVCH1	-	NULL		0.388	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	OVCH1	HGNC	protein_coding	OTTHUMT00000395997.2	C	NM_183378		29639271	-1	no_errors	ENST00000318184	ensembl	human	known	70_37	silent	SNP	0.002	T
PARP15	165631	genome.wustl.edu	37	3	122345698	122345698	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr3:122345698C>A	ENST00000464300.2	+	9	1322	c.1256C>A	c.(1255-1257)aCa>aAa	p.T419K	PARP15_ENST00000483793.1_Intron|PARP15_ENST00000310366.4_Missense_Mutation_p.T185K|PARP15_ENST00000493645.1_Intron|PARP15_ENST00000465304.1_3'UTR	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	419	Macro 2. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		AACCCTATCACAGTTGCTGAT	0.358																																																	0													79.0	73.0	75.0					3																	122345698		2203	4300	6503	SO:0001583	missense	165631			AK097916	CCDS3016.1, CCDS46893.1	3q21	2010-02-16			ENSG00000173200	ENSG00000173200		"""Poly (ADP-ribose) polymerases"""	26876	protein-coding gene	gene with protein product		612066				15273990	Standard	NM_001113523		Approved	FLJ40597, pART7	uc003efm.2	Q460N3	OTTHUMG00000159523	ENST00000464300.2:c.1256C>A	3.37:g.122345698C>A	ENSP00000417214:p.Thr419Lys		J3KR47|Q8N1K3	Missense_Mutation	SNP	pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,smart_A1pp,pfscan_A1pp,pfscan_Poly(ADP-ribose)pol_cat_dom	p.T419K	ENST00000464300.2	37	c.1256	CCDS46893.1	3	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.433070	0.01108	.	.	ENSG00000173200	ENST00000464300;ENST00000542823;ENST00000310366	T;T	0.21361	2.01;2.01	3.55	-7.1	0.01547	Appr-1-p processing (2);	.	.	.	.	T	0.04137	0.0115	N	0.02674	-0.535	0.09310	N	1	B;B;B	0.25235	0.121;0.006;0.002	B;B;B	0.14578	0.011;0.003;0.001	T	0.35226	-0.9797	9	0.07482	T	0.82	.	0.4205	0.00455	0.3679:0.2212:0.1282:0.2827	.	185;166;397	Q460N3-2;F5H8I1;Q460N3	.;.;PAR15_HUMAN	K	419;166;185	ENSP00000417214:T419K;ENSP00000308436:T185K	ENSP00000308436:T185K	T	+	2	0	PARP15	123828388	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-4.287000	0.00259	-0.987000	0.03494	-0.253000	0.11424	ACA	PARP15	-	smart_A1pp,pfscan_A1pp		0.358	PARP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP15	HGNC	protein_coding	OTTHUMT00000355964.2	C	NM_152615		122345698	+1	no_errors	ENST00000464300	ensembl	human	known	70_37	missense	SNP	0.000	A
PKD2L1	9033	genome.wustl.edu	37	10	102089754	102089754	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr10:102089754C>T	ENST00000318222.3	-	1	489	c.107G>A	c.(106-108)aGa>aAa	p.R36K	PKD2L1_ENST00000353274.3_Missense_Mutation_p.R36K|PKD2L1_ENST00000338519.3_Missense_Mutation_p.R36K	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	36					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GGTGCAGACTCTCAGCGTCCC	0.642																																																	0													75.0	81.0	79.0					10																	102089754		2203	4300	6503	SO:0001583	missense	9033			AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.107G>A	10.37:g.102089754C>T	ENSP00000325296:p.Arg36Lys		O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2,prints_PKD_1	p.R36K	ENST00000318222.3	37	c.107	CCDS7492.1	10	.	.	.	.	.	.	.	.	.	.	C	11.00	1.509383	0.27036	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	T;T;T	0.56941	0.61;0.43;0.48	5.61	-1.82	0.07857	.	0.936308	0.09101	N	0.848488	T	0.24122	0.0584	N	0.13043	0.29	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22208	-1.0223	10	0.06891	T	0.86	-1.7846	1.8717	0.03210	0.1309:0.3807:0.129:0.3594	.	36	Q9P0L9	PK2L1_HUMAN	K	36	ENSP00000345068:R36K;ENSP00000266049:R36K;ENSP00000325296:R36K	ENSP00000325296:R36K	R	-	2	0	PKD2L1	102079744	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.790000	0.04604	-0.178000	0.10672	-0.175000	0.13238	AGA	PKD2L1	-	NULL		0.642	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD2L1	HGNC	protein_coding	OTTHUMT00000049863.2	C	NM_016112		102089754	-1	no_errors	ENST00000318222	ensembl	human	known	70_37	missense	SNP	0.003	T
PLCB1	23236	genome.wustl.edu	37	20	8755229	8755229	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr20:8755229C>A	ENST00000338037.6	+	27	3001	c.2974C>A	c.(2974-2976)Caa>Aaa	p.Q992K	PLCB1_ENST00000378637.2_Missense_Mutation_p.Q992K|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378641.3_Missense_Mutation_p.Q992K	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	992					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AACGATTGAGCAAGACCTCGC	0.463																																																	0													123.0	122.0	122.0					20																	8755229		2203	4300	6503	SO:0001583	missense	23236			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.2974C>A	20.37:g.8755229C>A	ENSP00000338185:p.Gln992Lys		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.Q992K	ENST00000338037.6	37	c.2974	CCDS13102.1	20	.	.	.	.	.	.	.	.	.	.	C	11.21	1.570354	0.28003	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.17370	2.29;2.28;2.29	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.12433	0.0302	N	0.19112	0.55	0.53688	D	0.999974	B;B	0.09022	0.001;0.002	B;B	0.06405	0.0;0.002	T	0.11991	-1.0565	10	0.07644	T	0.81	.	19.6788	0.95950	0.0:1.0:0.0:0.0	.	992;992	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	K	992;992;992;912;912	ENSP00000367908:Q992K;ENSP00000338185:Q992K;ENSP00000367904:Q992K	ENSP00000338185:Q992K	Q	+	1	0	PLCB1	8703229	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.733000	0.68571	2.653000	0.90120	0.650000	0.86243	CAA	PLCB1	-	pirsf_PLC-beta		0.463	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	HGNC	protein_coding	OTTHUMT00000077938.3	C			8755229	+1	no_errors	ENST00000338037	ensembl	human	known	70_37	missense	SNP	1.000	A
PLEKHG1	57480	genome.wustl.edu	37	6	151152826	151152826	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr6:151152826C>T	ENST00000358517.2	+	15	2790	c.2579C>T	c.(2578-2580)gCg>gTg	p.A860V	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.A860V			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	860							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CTCCTGGCAGCGTTTCCTGTG	0.532																																																	0													48.0	52.0	50.0					6																	151152826		2203	4300	6503	SO:0001583	missense	57480			AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.2579C>T	6.37:g.151152826C>T	ENSP00000351318:p.Ala860Val		Q5T1F2	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.A860V	ENST00000358517.2	37	c.2579	CCDS34552.1	6	.	.	.	.	.	.	.	.	.	.	C	15.36	2.810824	0.50421	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.41400	1.0;1.0	5.47	5.47	0.80525	.	0.049788	0.85682	D	0.000000	T	0.48696	0.1514	L	0.41236	1.265	0.51482	D	0.999925	B;D;D	0.89917	0.357;1.0;1.0	B;D;D	0.63877	0.065;0.919;0.919	T	0.51403	-0.8710	10	0.87932	D	0	.	19.3452	0.94359	0.0:1.0:0.0:0.0	.	667;860;860	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	V	860	ENSP00000356297:A860V;ENSP00000351318:A860V	ENSP00000351318:A860V	A	+	2	0	PLEKHG1	151194519	1.000000	0.71417	0.042000	0.18584	0.367000	0.29736	7.474000	0.81024	2.570000	0.86706	0.609000	0.83330	GCG	PLEKHG1	-	NULL		0.532	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG1	HGNC	protein_coding	OTTHUMT00000042691.1	C			151152826	+1	no_errors	ENST00000358517	ensembl	human	known	70_37	missense	SNP	0.985	T
POLD2	5425	genome.wustl.edu	37	7	44156597	44156597	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr7:44156597G>A	ENST00000406581.2	-	7	1248	c.599C>T	c.(598-600)tCc>tTc	p.S200F	POLD2_ENST00000223361.3_Missense_Mutation_p.S200F|POLD2_ENST00000452185.1_Missense_Mutation_p.S200F	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	200					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						GCCCAGGCCGGACACCAGTAG	0.657																																																	0													19.0	22.0	21.0					7																	44156597		2203	4299	6502	SO:0001583	missense	5425				CCDS5477.1, CCDS75586.1	7p13	2012-05-18	2012-05-18		ENSG00000106628	ENSG00000106628		"""DNA polymerases"""	9176	protein-coding gene	gene with protein product	"""Pol delta B subunit (p50)"", ""DNA polymerase delta subunit p50"""	600815	"""polymerase (DNA directed), delta 2, regulatory subunit (50kD)"", ""polymerase (DNA directed), delta 2, regulatory subunit 50kDa"""			8530069	Standard	NM_001127218		Approved		uc003tkf.5	P49005	OTTHUMG00000022909	ENST00000406581.2:c.599C>T	7.37:g.44156597G>A	ENSP00000386105:p.Ser200Phe		A4D2J4|B2R5S4	Missense_Mutation	SNP	pfam_DNA_pol_alpha/epsilon_bsu	p.S200F	ENST00000406581.2	37	c.599	CCDS5477.1	7	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323168	0.81580	.	.	ENSG00000106628	ENST00000406581;ENST00000223361;ENST00000452185;ENST00000436844;ENST00000433715	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.77	5.77	0.91146	DNA polymerase alpha/epsilon, subunit B (1);	0.000000	0.85682	D	0.000000	T	0.79718	0.4494	H	0.95504	3.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.85252	0.1045	10	0.87932	D	0	-3.4961	19.5941	0.95527	0.0:0.0:1.0:0.0	.	200;200	P49005;F8W8R3	DPOD2_HUMAN;.	F	200;200;200;118;200	ENSP00000386105:S200F;ENSP00000223361:S200F;ENSP00000395231:S200F;ENSP00000416203:S118F	ENSP00000223361:S200F	S	-	2	0	POLD2	44123122	1.000000	0.71417	0.966000	0.40874	0.369000	0.29798	9.643000	0.98464	2.723000	0.93209	0.655000	0.94253	TCC	POLD2	-	pfam_DNA_pol_alpha/epsilon_bsu		0.657	POLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLD2	HGNC	protein_coding	OTTHUMT00000250994.2	G	NM_001127218		44156597	-1	no_errors	ENST00000406581	ensembl	human	known	70_37	missense	SNP	1.000	A
POLQ	10721	genome.wustl.edu	37	3	121263576	121263576	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr3:121263576G>A	ENST00000264233.5	-	2	469	c.341C>T	c.(340-342)tCa>tTa	p.S114L		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	114	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTGGATACCTGAATAAACTAA	0.338								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0													53.0	55.0	55.0					3																	121263576		2203	4300	6503	SO:0001583	missense	10721			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.341C>T	3.37:g.121263576G>A	ENSP00000264233:p.Ser114Leu		O95160|Q6VMB5	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.S114L	ENST00000264233.5	37	c.341	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	G	27.8	4.867489	0.91587	.	.	ENSG00000051341	ENST00000264233;ENST00000393672	T	0.42513	0.97	5.58	5.58	0.84498	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.248088	0.42053	D	0.000763	T	0.68366	0.2993	M	0.91872	3.25	0.80722	D	1	P	0.50156	0.932	P	0.54431	0.752	T	0.76310	-0.3006	10	0.87932	D	0	.	19.5585	0.95363	0.0:0.0:1.0:0.0	.	114	O75417	DPOLQ_HUMAN	L	114;249	ENSP00000264233:S114L	ENSP00000264233:S114L	S	-	2	0	POLQ	122746266	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	9.313000	0.96297	2.614000	0.88457	0.557000	0.71058	TCA	POLQ	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.338	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	G	NM_199420		121263576	-1	no_errors	ENST00000264233	ensembl	human	known	70_37	missense	SNP	1.000	A
PRPF8	10594	genome.wustl.edu	37	17	1560004	1560004	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr17:1560004G>A	ENST00000572621.1	-	34	5822	c.5557C>T	c.(5557-5559)Cct>Tct	p.P1853S	PRPF8_ENST00000304992.6_Missense_Mutation_p.P1853S|PRPF8_ENST00000575116.1_5'Flank			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1853	Involved in interaction with pre-mRNA 5' splice site.|RNase H homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TCCTCCACAGGCAGAGATCGG	0.537																																																	0													57.0	49.0	51.0					17																	1560004		2203	4300	6503	SO:0001583	missense	10594			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.5557C>T	17.37:g.1560004G>A	ENSP00000460348:p.Pro1853Ser		O14547|O75965	Missense_Mutation	SNP	pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_Pre-mRNA-splicing_factor-8,pfam_Prp8_U5-snRNA-bd,pfam_PRO_C,pfam_RRM_spliceosomal_PrP8,pfam_JAB1_Mov34_MPN_PAD1,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB1_Mov34_MPN_PAD1	p.P1853S	ENST00000572621.1	37	c.5557	CCDS11010.1	17	.	.	.	.	.	.	.	.	.	.	g	31	5.084949	0.94100	.	.	ENSG00000174231	ENST00000304992;ENST00000540177	D	0.90955	-2.76	5.56	5.56	0.83823	PRP8 domain IV core (1);	0.000000	0.85682	D	0.000000	D	0.96374	0.8817	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96239	0.9174	10	0.52906	T	0.07	.	19.5263	0.95208	0.0:0.0:1.0:0.0	.	1853	Q6P2Q9	PRP8_HUMAN	S	1853;378	ENSP00000304350:P1853S	ENSP00000304350:P1853S	P	-	1	0	PRPF8	1506754	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.613000	0.88420	0.655000	0.94253	CCT	PRPF8	-	pfam_PRP8_domainIV		0.537	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRPF8	HGNC	protein_coding	OTTHUMT00000438412.2	G			1560004	-1	no_errors	ENST00000304992	ensembl	human	known	70_37	missense	SNP	1.000	A
PTMA	5757	genome.wustl.edu	37	2	232576648	232576648	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr2:232576648G>T	ENST00000341369.7	+	3	360	c.169G>T	c.(169-171)Gag>Tag	p.E57*	PTMA_ENST00000409115.3_Nonsense_Mutation_p.E56*|PTMA_ENST00000410064.1_Nonsense_Mutation_p.E82*|PTMA_ENST00000409683.1_Nonsense_Mutation_p.E56*|PTMA_ENST00000466801.1_3'UTR|PTMA_ENST00000409321.1_Nonsense_Mutation_p.E77*	NM_001099285.1	NP_001092755.1	P06454	PTMA_HUMAN	prothymosin, alpha	57	Asp/Glu-rich (acidic).				transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				lung(3)|ovary(1)|prostate(1)|skin(1)	6		Renal(207;0.0112)|all_hematologic(139;0.0315)|Acute lymphoblastic leukemia(138;0.0921)|all_lung(227;0.142)		Epithelial(121;1.75e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00221)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		agacgaagaagaggaagaagg	0.517																																																	0													51.0	54.0	53.0					2																	232576648		2015	4188	6203	SO:0001587	stop_gained	5757				CCDS42833.1, CCDS46541.1	2q37.1	2008-07-04	2008-04-03		ENSG00000187514	ENSG00000187514			9623	protein-coding gene	gene with protein product	"""gene sequence 28"""	188390	"""prothymosin, alpha (gene sequence 28)"""	TMSA		1612591	Standard	NM_002823		Approved		uc002vsc.4	P06454	OTTHUMG00000153810	ENST00000341369.7:c.169G>T	2.37:g.232576648G>T	ENSP00000344547:p.Glu57*		Q15249|Q15592	Nonsense_Mutation	SNP	pfam_Pro/parathymosin	p.E57*	ENST00000341369.7	37	c.169	CCDS42833.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.602270|6.602270	0.97697|0.97697	.|.	.|.	ENSG00000187514|ENSG00000187514	ENST00000409321;ENST00000409115;ENST00000341369;ENST00000409683;ENST00000410064;ENST00000358839|ENST00000412128	.|.	.|.	.|.	3.58|3.58	2.7|2.7	0.31948|0.31948	.|.	0.177141|.	0.33875|.	U|.	0.004470|.	.|T	.|0.52041	.|0.1710	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.61613	.|-0.7027	.|3	0.72032|.	D|.	0.01|.	.|.	10.7214|10.7214	0.46042|0.46042	0.098:0.0:0.902:0.0|0.098:0.0:0.902:0.0	.|.	.|.	.|.	.|.	X|N	77;56;57;56;82;81|93	.|.	ENSP00000344547:E57X|.	E|K	+|+	1|3	0|2	PTMA|PTMA	232284892|232284892	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.756000|5.756000	0.68757|0.68757	1.084000|1.084000	0.41184|0.41184	0.549000|0.549000	0.68633|0.68633	GAG|AAG	PTMA	-	pfam_Pro/parathymosin		0.517	PTMA-002	KNOWN	basic|CCDS	protein_coding	PTMA	HGNC	protein_coding	OTTHUMT00000332553.1	G			232576648	+1	no_errors	ENST00000341369	ensembl	human	known	70_37	nonsense	SNP	1.000	T
RBM20	282996	genome.wustl.edu	37	10	112590901	112590901	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr10:112590901G>A	ENST00000369519.3	+	13	3592	c.3534G>A	c.(3532-3534)atG>atA	p.M1178I	RBM20_ENST00000480343.2_3'UTR	NM_001134363.1	NP_001127835.1	Q5T481	RBM20_HUMAN	RNA binding motif protein 20	1178					heart development (GO:0007507)|mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(4)|kidney(3)|large_intestine(1)|ovary(1)|skin(2)	12						CAGCAAAGATGAGCCACTGCC	0.567																																																	0													116.0	102.0	107.0					10																	112590901		692	1591	2283	SO:0001583	missense	282996			BX648563	CCDS44477.1	10q25.3	2014-09-17			ENSG00000203867	ENSG00000203867		"""RNA binding motif (RRM) containing"""	27424	protein-coding gene	gene with protein product		613171					Standard	NM_001134363		Approved		uc001kzf.2	Q5T481	OTTHUMG00000019043	ENST00000369519.3:c.3534G>A	10.37:g.112590901G>A	ENSP00000358532:p.Met1178Ile		A6NIP5|B5A868|Q5JVI1	Missense_Mutation	SNP	smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.M1178I	ENST00000369519.3	37	c.3534	CCDS44477.1	10	.	.	.	.	.	.	.	.	.	.	G	10.78	1.446824	0.25987	.	.	ENSG00000203867	ENST00000369519	T	0.75154	-0.91	5.66	-1.06	0.10002	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2-type matrin (1);	.	.	.	.	T	0.53610	0.1807	N	0.22421	0.69	0.21064	N	0.999799	B	0.02656	0.0	B	0.01281	0.0	T	0.33007	-0.9885	9	0.30078	T	0.28	.	4.1994	0.10458	0.4489:0.0:0.3021:0.249	.	1178	Q5T481	RBM20_HUMAN	I	1178	ENSP00000358532:M1178I	ENSP00000358532:M1178I	M	+	3	0	RBM20	112580891	0.185000	0.23213	0.981000	0.43875	0.372000	0.29890	-0.151000	0.10175	-0.075000	0.12798	-0.140000	0.14226	ATG	RBM20	-	smart_Znf_U1,pfscan_Znf_C2H2_matrin		0.567	RBM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM20	HGNC	protein_coding	OTTHUMT00000050339.2	G	NM_001134363		112590901	+1	no_errors	ENST00000369519	ensembl	human	known	70_37	missense	SNP	0.675	A
RBM4B	83759	genome.wustl.edu	37	11	66444539	66444539	+	Silent	SNP	C	C	G			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr11:66444539C>G	ENST00000525754.1	-	1	680	c.12G>C	c.(10-12)ctG>ctC	p.L4L	RBM4B_ENST00000310046.4_Silent_p.L4L|RBM4B_ENST00000524637.1_Silent_p.L4L|RBM4B_ENST00000531969.1_Silent_p.L4L|RBM4B_ENST00000531036.2_Silent_p.L4L			Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	4	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|entrainment of circadian clock by photoperiod (GO:0043153)|mRNA processing (GO:0006397)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						TTCCGATGAACAGCTTCACCA	0.493																																																	0													91.0	88.0	89.0					11																	66444539		2200	4295	6495	SO:0001819	synonymous_variant	83759			AK095158	CCDS8149.1, CCDS66144.1	11q13	2013-02-12	2006-01-25	2006-01-25				"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	28842	protein-coding gene	gene with protein product			"""RNA binding motif protein 30"""	RBM30		12477932	Standard	XR_247213		Approved	MGC10871, ZCCHC15, RBM4L, ZCRB3B, ZCCHC21B	uc001ojb.3	Q9BQ04		ENST00000525754.1:c.12G>C	11.37:g.66444539C>G			B3KT83	Silent	SNP	pfam_RRM_dom,pfam_Znf_CCHC,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom	p.L4	ENST00000525754.1	37	c.12	CCDS8149.1	11																																																																																			RBM4B	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.493	RBM4B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RBM4B	HGNC	protein_coding	OTTHUMT00000393851.1	C	NM_031492		66444539	-1	no_errors	ENST00000310046	ensembl	human	known	70_37	silent	SNP	0.996	G
REV3L	5980	genome.wustl.edu	37	6	111689105	111689105	+	Silent	SNP	A	A	G			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr6:111689105A>G	ENST00000358835.3	-	15	6340	c.5886T>C	c.(5884-5886)aaT>aaC	p.N1962N	REV3L_ENST00000368802.3_Silent_p.N1962N|REV3L_ENST00000435970.1_Silent_p.N1884N|REV3L_ENST00000368805.1_Silent_p.N1962N			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1962					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTGGCCTTGGATTCTGAGTCA	0.438								DNA polymerases (catalytic subunits)																																									0													90.0	88.0	88.0					6																	111689105		2203	4300	6503	SO:0001819	synonymous_variant	5980			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.5886T>C	6.37:g.111689105A>G			O43214|Q5TC33	Silent	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B	p.N1962	ENST00000358835.3	37	c.5886	CCDS5091.2	6																																																																																			REV3L	-	superfamily_RNaseH-like_dom		0.438	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	REV3L	HGNC	protein_coding	OTTHUMT00000043695.1	A	NM_002912		111689105	-1	no_errors	ENST00000358835	ensembl	human	known	70_37	silent	SNP	1.000	G
RGPD4	285190	genome.wustl.edu	37	2	108487587	108487587	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr2:108487587C>A	ENST00000408999.3	+	20	3204	c.3127C>A	c.(3127-3129)Caa>Aaa	p.Q1043K	RGPD4_ENST00000354986.4_Missense_Mutation_p.Q1043K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1043	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ACCAGTAGTTCAAATGCCTGA	0.383																																																	0													6.0	5.0	5.0					2																	108487587		676	1526	2202	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.3127C>A	2.37:g.108487587C>A	ENSP00000386810:p.Gln1043Lys		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.Q1043K	ENST00000408999.3	37	c.3127	CCDS46381.1	2	.	.	.	.	.	.	.	.	.	.	-	0.035	-1.311982	0.01342	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.38560	1.13;1.13	2.33	2.33	0.28932	Pleckstrin homology-type (1);Ran binding protein 1 (2);	.	.	.	.	T	0.27731	0.0682	N	0.17631	0.505	0.33981	D	0.647915	P	0.36330	0.548	B	0.35039	0.194	T	0.47275	-0.9130	9	0.56958	D	0.05	-19.4331	11.5771	0.50869	0.0:1.0:0.0:0.0	.	1043	Q7Z3J3	RGPD4_HUMAN	K	1043;1043;801	ENSP00000347081:Q1043K;ENSP00000386810:Q1043K	ENSP00000347081:Q1043K	Q	+	1	0	RGPD4	107854019	1.000000	0.71417	0.996000	0.52242	0.489000	0.33432	5.707000	0.68370	1.303000	0.44873	0.162000	0.16502	CAA	RGPD4	-	smart_Ran_bind_dom,pfscan_Ran_bind_dom		0.383	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	HGNC	protein_coding	OTTHUMT00000330096.2	C	XM_496581		108487587	+1	no_errors	ENST00000354986	ensembl	human	known	70_37	missense	SNP	1.000	A
RPP30	10556	genome.wustl.edu	37	10	92631788	92631788	+	Silent	SNP	G	G	A			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr10:92631788G>A	ENST00000371703.3	+	1	316	c.45G>A	c.(43-45)ctG>ctA	p.L15L	RPP30_ENST00000413330.1_Silent_p.L15L	NM_006413.4	NP_006404.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit	15					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ribonuclease P activity (GO:0004526)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						GTTCTGACCTGAAGGCTCTGC	0.672																																																	0													115.0	120.0	118.0					10																	92631788		2203	4300	6503	SO:0001819	synonymous_variant	10556			BC006991	CCDS7411.1, CCDS44458.1	10q23.32-q23.33	2012-05-21			ENSG00000148688	ENSG00000148688			17688	protein-coding gene	gene with protein product		606115				9037013, 9308968	Standard	NM_006413		Approved	TSG15	uc001khd.2	P78346	OTTHUMG00000018733	ENST00000371703.3:c.45G>A	10.37:g.92631788G>A			B2R799|E9PB02	Silent	SNP	pfam_RNase_P_p30,superfamily_Pol/histidinol_Pase-like	p.L15	ENST00000371703.3	37	c.45	CCDS7411.1	10																																																																																			RPP30	-	superfamily_Pol/histidinol_Pase-like		0.672	RPP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPP30	HGNC	protein_coding	OTTHUMT00000049347.1	G	NM_006413		92631788	+1	no_errors	ENST00000413330	ensembl	human	known	70_37	silent	SNP	0.498	A
SCN8A	6334	genome.wustl.edu	37	12	52159647	52159647	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr12:52159647G>A	ENST00000354534.6	+	16	2915	c.2737G>A	c.(2737-2739)Gaa>Aaa	p.E913K	SCN8A_ENST00000550891.1_Missense_Mutation_p.E913K|SCN8A_ENST00000545061.1_Missense_Mutation_p.E913K	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	913					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	CCAGGACTGTGAACTCCCTCG	0.488																																																	0													171.0	176.0	174.0					12																	52159647		2203	4299	6502	SO:0001583	missense	6334			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.2737G>A	12.37:g.52159647G>A	ENSP00000346534:p.Glu913Lys		B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.E913K	ENST00000354534.6	37	c.2737	CCDS44891.1	12	.	.	.	.	.	.	.	.	.	.	G	11.27	1.588072	0.28268	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D;D	0.98493	-4.96;-4.96;-4.96;-4.96	4.66	1.8	0.24995	Ion transport (1);	0.543263	0.19755	N	0.106816	D	0.95056	0.8399	L	0.35644	1.08	0.33813	D	0.628147	B;B;B	0.24823	0.068;0.073;0.112	B;B;B	0.29862	0.108;0.037;0.058	D	0.92546	0.6046	10	0.27785	T	0.31	.	8.0553	0.30602	0.1494:0.1318:0.7188:0.0	.	913;913;913	F8VWM7;F8VRN5;Q9UQD0	.;.;SCN8A_HUMAN	K	913;913;913;913;826	ENSP00000448415:E913K;ENSP00000346534:E913K;ENSP00000440360:E913K;ENSP00000347255:E913K	ENSP00000346534:E913K	E	+	1	0	SCN8A	50445914	0.992000	0.36948	0.562000	0.28370	0.991000	0.79684	4.779000	0.62375	0.425000	0.26087	0.563000	0.77884	GAA	SCN8A	-	pfam_Ion_trans_dom		0.488	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	HGNC	protein_coding	OTTHUMT00000404372.3	G	NM_014191		52159647	+1	no_errors	ENST00000354534	ensembl	human	known	70_37	missense	SNP	0.987	A
SCN8A	6334	genome.wustl.edu	37	12	52159746	52159746	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr12:52159746G>A	ENST00000354534.6	+	16	3014	c.2836G>A	c.(2836-2838)Gaa>Aaa	p.E946K	SCN8A_ENST00000550891.1_Missense_Mutation_p.E946K|SCN8A_ENST00000545061.1_Missense_Mutation_p.E946K	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	946					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	GGACTGCATGGAAGTGGCAGG	0.463																																																	0													212.0	219.0	217.0					12																	52159746		2200	4299	6499	SO:0001583	missense	6334			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.2836G>A	12.37:g.52159746G>A	ENSP00000346534:p.Glu946Lys		B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.E946K	ENST00000354534.6	37	c.2836	CCDS44891.1	12	.	.	.	.	.	.	.	.	.	.	G	33	5.233312	0.95207	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D;D	0.97378	-3.91;-4.36;-4.36;-4.36	4.56	4.56	0.56223	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97779	0.9271	L	0.51853	1.615	0.80722	D	1	D;D;D	0.89917	0.996;0.974;1.0	D;D;D	0.91635	0.966;0.969;0.999	D	0.98223	1.0479	10	0.66056	D	0.02	.	18.6486	0.91421	0.0:0.0:1.0:0.0	.	946;946;946	F8VWM7;F8VRN5;Q9UQD0	.;.;SCN8A_HUMAN	K	946;946;946;946;859	ENSP00000448415:E946K;ENSP00000346534:E946K;ENSP00000440360:E946K;ENSP00000347255:E946K	ENSP00000346534:E946K	E	+	1	0	SCN8A	50446013	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.817000	0.96982	0.563000	0.77884	GAA	SCN8A	-	pfam_Ion_trans_dom		0.463	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	HGNC	protein_coding	OTTHUMT00000404372.3	G	NM_014191		52159746	+1	no_errors	ENST00000354534	ensembl	human	known	70_37	missense	SNP	1.000	A
SERPINA3	12	genome.wustl.edu	37	14	95085798	95085798	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr14:95085798G>A	ENST00000467132.1	+	3	2058	c.910G>A	c.(910-912)Gag>Aag	p.E304K	SERPINA3_ENST00000482740.1_Missense_Mutation_p.E86K|SERPINA3_ENST00000393080.4_Missense_Mutation_p.E304K|RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393078.3_Missense_Mutation_p.E304K			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	304					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		AGACTCTCTGGAGTTCAGGTG	0.557																																																	0													57.0	52.0	54.0					14																	95085798		2203	4300	6503	SO:0001583	missense	12			K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"""Serine (or cysteine) peptidase inhibitors"""	16	protein-coding gene	gene with protein product		107280	"""alpha-1-antichymotrypsin"", ""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"""	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.910G>A	14.37:g.95085798G>A	ENSP00000450540:p.Glu304Lys		B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.E329K	ENST00000467132.1	37	c.985	CCDS32150.1	14	.	.	.	.	.	.	.	.	.	.	G	1.664	-0.510669	0.04231	.	.	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000555820;ENST00000467132;ENST00000482740	D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69	4.79	-8.08	0.01094	Serpin domain (3);	2.989950	0.00921	N	0.002582	T	0.57184	0.2036	N	0.02334	-0.595	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.0;0.003	T	0.63152	-0.6701	10	0.05436	T	0.98	.	12.382	0.55311	0.7242:0.1885:0.0873:0.0	.	304;329	P01011;G3V5I3	AACT_HUMAN;.	K	329;304;304;304;304;86	ENSP00000452367:E329K;ENSP00000376793:E304K;ENSP00000376795:E304K;ENSP00000450540:E304K;ENSP00000451119:E86K	ENSP00000376793:E304K	E	+	1	0	SERPINA3	94155551	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.823000	0.00748	-1.303000	0.02332	-1.633000	0.00780	GAG	SERPINA3	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.557	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINA3	HGNC	protein_coding	OTTHUMT00000268080.3	G	NM_001085		95085798	+1	no_errors	ENST00000553947	ensembl	human	known	70_37	missense	SNP	0.000	A
SH3D21	79729	genome.wustl.edu	37	1	36784876	36784876	+	Silent	SNP	C	C	T			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr1:36784876C>T	ENST00000426732.2	+	11	816	c.531C>T	c.(529-531)ccC>ccT	p.P177P	SH3D21_ENST00000505871.1_Silent_p.P182P|SH3D21_ENST00000312808.4_5'UTR|SH3D21_ENST00000453908.2_Silent_p.P293P			A4FU49	SH321_HUMAN	SH3 domain containing 21	177						extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						CTCGGACACCCAGCAGGGACA	0.642																																																	0													47.0	46.0	46.0					1																	36784876		692	1591	2283	SO:0001819	synonymous_variant	79729			AK056459	CCDS30674.1, CCDS30674.2	1p34.3	2011-02-21	2011-02-21	2011-02-21	ENSG00000214193	ENSG00000214193			26236	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 113"""	C1orf113		12477932	Standard	NM_024676		Approved	FLJ22938	uc010oia.1	A4FU49	OTTHUMG00000007868	ENST00000426732.2:c.531C>T	1.37:g.36784876C>T			B4DLI6|D3DPS6|J3KQM5|Q5VTK7|Q86XZ6|Q8N445|Q96DN4|Q9H5W5	Silent	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox,prints_Spectrin_alpha_SH3	p.P293	ENST00000426732.2	37	c.879		1																																																																																			SH3D21	-	NULL		0.642	SH3D21-202	KNOWN	basic	protein_coding	SH3D21	HGNC	protein_coding		C	NM_024676		36784876	+1	no_errors	ENST00000453908	ensembl	human	known	70_37	silent	SNP	0.001	T
SKIDA1	387640	genome.wustl.edu	37	10	21805717	21805717	+	Silent	SNP	G	G	A			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr10:21805717G>A	ENST00000449193.2	-	4	3287	c.1035C>T	c.(1033-1035)caC>caT	p.H345H	SKIDA1_ENST00000487107.1_5'Flank|SKIDA1_ENST00000444772.3_Silent_p.H266H	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	264	Glu-rich.|Ser-rich.					nucleus (GO:0005634)											ggtggtggtggtgatggtggt	0.716																																																	0													4.0	6.0	5.0					10																	21805717		1668	3602	5270	SO:0001819	synonymous_variant	387640			AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1035C>T	10.37:g.21805717G>A			B1ANA5|Q6ZMX4|Q8N3C3	Silent	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.H345	ENST00000449193.2	37	c.1035	CCDS44363.1	10																																																																																			SKIDA1	-	NULL		0.716	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIDA1	HGNC	protein_coding	OTTHUMT00000286950.2	G	NM_207371		21805717	-1	no_errors	ENST00000449193	ensembl	human	known	70_37	silent	SNP	1.000	A
SLC25A12	8604	genome.wustl.edu	37	2	172691340	172691340	+	Silent	SNP	G	G	A			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr2:172691340G>A	ENST00000422440.2	-	7	685	c.648C>T	c.(646-648)ttC>ttT	p.F216F	SLC25A12_ENST00000392592.4_Silent_p.F109F	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	216					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	TGAAGTAGGAGAAGCTAACCT	0.373																																																	0													99.0	90.0	94.0					2																	172691340		2203	4300	6503	SO:0001819	synonymous_variant	8604			Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"""Solute carriers"", ""EF-hand domain containing"""	10982	protein-coding gene	gene with protein product		603667	"""solute carrier family 25 (mitochondrial carrier, Aralar), member 12"""			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.648C>T	2.37:g.172691340G>A			B3KR64|Q96AM8	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.F216	ENST00000422440.2	37	c.648	CCDS33327.1	2																																																																																			SLC25A12	-	NULL		0.373	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A12	HGNC	protein_coding	OTTHUMT00000259010.2	G	NM_003705		172691340	-1	no_errors	ENST00000422440	ensembl	human	known	70_37	silent	SNP	1.000	A
SLC45A1	50651	genome.wustl.edu	37	1	8399605	8399605	+	Silent	SNP	C	C	T			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr1:8399605C>T	ENST00000471889.1	+	8	2212	c.1827C>T	c.(1825-1827)atC>atT	p.I609I	SLC45A1_ENST00000289877.8_Silent_p.I609I|SLC45A1_ENST00000377479.2_Silent_p.I643I			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	609					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TCTACTTCATCGCCTATCTCG	0.607																																																	0													151.0	132.0	138.0					1																	8399605		2203	4300	6503	SO:0001819	synonymous_variant	50651			AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.1827C>T	1.37:g.8399605C>T			Q5VY46|Q5VY49	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.I643	ENST00000471889.1	37	c.1929	CCDS30577.1	1																																																																																			SLC45A1	-	superfamily_MFS_dom_general_subst_transpt		0.607	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A1	HGNC	protein_coding	OTTHUMT00000001245.5	C			8399605	+1	no_errors	ENST00000377479	ensembl	human	known	70_37	silent	SNP	0.961	T
SORCS2	57537	genome.wustl.edu	37	4	7716035	7716035	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr4:7716035G>T	ENST00000507866.2	+	16	2167	c.2058G>T	c.(2056-2058)aaG>aaT	p.K686N	SORCS2_ENST00000329016.9_Missense_Mutation_p.K514N	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	686					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GGTGCATCAAGGGGAGGAGCT	0.637																																																	0													45.0	50.0	48.0					4																	7716035		2050	4205	6255	SO:0001583	missense	57537			AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.2058G>T	4.37:g.7716035G>T	ENSP00000422185:p.Lys686Asn		Q9P2L7	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,smart_PKD/Chitinase_dom,pfscan_PKD_dom	p.K686N	ENST00000507866.2	37	c.2058	CCDS47008.1	4	.	.	.	.	.	.	.	.	.	.	G	10.87	1.472870	0.26423	.	.	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.20200	2.09;2.09	4.01	3.17	0.36434	VPS10 (1);	0.061501	0.64402	D	0.000006	T	0.11196	0.0273	N	0.13140	0.3	0.53688	D	0.999975	P;P	0.50272	0.883;0.933	B;B	0.44108	0.348;0.441	T	0.14587	-1.0467	10	0.26408	T	0.33	.	4.9003	0.13771	0.3966:0.0:0.6033:0.0	.	514;686	B5MED8;Q96PQ0	.;SORC2_HUMAN	N	686;514	ENSP00000422185:K686N;ENSP00000329124:K514N	ENSP00000329124:K514N	K	+	3	2	SORCS2	7766935	1.000000	0.71417	0.674000	0.29902	0.436000	0.31835	3.969000	0.56816	0.892000	0.36259	-0.136000	0.14681	AAG	SORCS2	-	smart_VPS10		0.637	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS2	HGNC	protein_coding	OTTHUMT00000358685.4	G	NM_020777		7716035	+1	no_errors	ENST00000507866	ensembl	human	known	70_37	missense	SNP	1.000	T
SPTBN5	51332	genome.wustl.edu	37	15	42158019	42158020	+	Frame_Shift_Ins	INS	-	-	CTCGGAA			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr15:42158019_42158020insCTCGGAA	ENST00000320955.6	-	39	7131_7132	c.6904_6905insTTCCGAG	c.(6904-6906)ggafs	p.G2302fs	MIR4310_ENST00000582950.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2302					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GGCCGAGTTTCCTCGGAACTCG	0.614																																																	0																																										SO:0001589	frameshift_variant	51332			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.6898_6904dupTTCCGAG	15.37:g.42158020_42158026dupCTCGGAA	ENSP00000317790:p.Gly2302fs			Frame_Shift_Ins	INS	pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.G2302fs	ENST00000320955.6	37	c.6905_6904		15																																																																																			SPTBN5	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.614	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	SPTBN5	HGNC	protein_coding	OTTHUMT00000420237.1	-	NM_016642		42158020	-1	no_errors	ENST00000320955	ensembl	human	known	70_37	frame_shift_ins	INS	0.780:0.782	CTCGGAA
SYBU	55638	genome.wustl.edu	37	8	110587418	110587418	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr8:110587418G>T	ENST00000422135.1	-	8	2224	c.1709C>A	c.(1708-1710)gCa>gAa	p.A570E	SYBU_ENST00000533171.1_Missense_Mutation_p.A570E|SYBU_ENST00000408889.3_Missense_Mutation_p.A451E|SYBU_ENST00000440310.1_Missense_Mutation_p.A570E|SYBU_ENST00000446070.2_Missense_Mutation_p.A569E|SYBU_ENST00000528331.1_Missense_Mutation_p.A451E|SYBU_ENST00000419099.1_Missense_Mutation_p.A569E|SYBU_ENST00000533895.1_Missense_Mutation_p.A569E|SYBU_ENST00000276646.9_Missense_Mutation_p.A570E|SYBU_ENST00000424158.2_Missense_Mutation_p.A575E|SYBU_ENST00000532779.1_Missense_Mutation_p.A502E|SYBU_ENST00000408908.2_Missense_Mutation_p.A570E|SYBU_ENST00000527707.1_5'Flank|SYBU_ENST00000533065.1_Missense_Mutation_p.A451E|SYBU_ENST00000529690.1_Missense_Mutation_p.A440E|SYBU_ENST00000528647.1_Missense_Mutation_p.A569E|SYBU_ENST00000529175.1_Missense_Mutation_p.A364E|SYBU_ENST00000399066.3_Missense_Mutation_p.A567E|SYBU_ENST00000433638.1_Missense_Mutation_p.A570E	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	570					regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						GAGGCGGTTTGCATGAACTTC	0.542																																																	0													54.0	56.0	55.0					8																	110587418		1962	4144	6106	SO:0001583	missense	55638			AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"""syntaphilin-like"""	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.1709C>A	8.37:g.110587418G>T	ENSP00000407118:p.Ala570Glu		A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	NULL	p.A570E	ENST00000422135.1	37	c.1709	CCDS47912.1	8	.	.	.	.	.	.	.	.	.	.	G	0	-2.590795	0.00126	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000528331;ENST00000529175;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000408889;ENST00000533065;ENST00000529690;ENST00000533171	.	.	.	5.97	-1.13	0.09775	.	0.692004	0.15208	N	0.274654	T	0.17746	0.0426	N	0.12887	0.27	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001	T	0.32188	-0.9916	9	0.02654	T	1	-0.9489	9.1398	0.36897	0.0:0.1523:0.4331:0.4146	.	440;502;569;570;567	B7Z4D2;Q9NX95-2;Q9NX95-3;Q9NX95;Q9NX95-4	.;.;.;SYBU_HUMAN;.	E	569;575;502;567;569;451;364;570;569;570;569;570;570;570;451;451;440;570	.	ENSP00000276646:A570E	A	-	2	0	SYBU	110656594	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.239000	0.18023	-0.200000	0.10300	0.655000	0.94253	GCA	SYBU	-	NULL		0.542	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYBU	HGNC	protein_coding	OTTHUMT00000385501.1	G	NM_017786		110587418	-1	no_errors	ENST00000276646	ensembl	human	known	70_37	missense	SNP	0.000	T
TAS2R7	50837	genome.wustl.edu	37	12	10954804	10954804	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr12:10954804C>T	ENST00000240687.2	-	1	422	c.366G>A	c.(364-366)atG>atA	p.M122I		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	122					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						TTCTCCACTTCATCCAGAGGA	0.423																																																	0													65.0	61.0	63.0					12																	10954804		2203	4300	6503	SO:0001583	missense	50837			AF227133	CCDS8631.1	12p13	2012-08-22			ENSG00000121377	ENSG00000121377		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14913	protein-coding gene	gene with protein product		604793				10761934, 10766242	Standard	NM_023919		Approved	T2R7, TRB4	uc001qyv.3	Q9NYW3	OTTHUMG00000168505	ENST00000240687.2:c.366G>A	12.37:g.10954804C>T	ENSP00000240687:p.Met122Ile		Q645Y1	Missense_Mutation	SNP	pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.M122I	ENST00000240687.2	37	c.366	CCDS8631.1	12	.	.	.	.	.	.	.	.	.	.	C	6.624	0.483499	0.12581	.	.	ENSG00000121377	ENST00000240687	T	0.00711	5.8	5.49	2.09	0.27110	GPCR, rhodopsin-like superfamily (1);	0.371275	0.26000	N	0.026956	T	0.00552	0.0018	N	0.16066	0.365	0.23478	N	0.997593	B	0.13594	0.008	B	0.21360	0.034	T	0.50180	-0.8858	10	0.52906	T	0.07	.	1.4304	0.02332	0.159:0.4657:0.1543:0.221	.	122	Q9NYW3	TA2R7_HUMAN	I	122	ENSP00000240687:M122I	ENSP00000240687:M122I	M	-	3	0	TAS2R7	10846071	0.994000	0.37717	0.981000	0.43875	0.004000	0.04260	0.163000	0.16520	0.232000	0.21100	-0.907000	0.02831	ATG	TAS2R7	-	pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.423	TAS2R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R7	HGNC	protein_coding	OTTHUMT00000399931.1	C			10954804	-1	no_errors	ENST00000240687	ensembl	human	known	70_37	missense	SNP	0.990	T
TCEB3CL2	100506888	genome.wustl.edu	37	18	44543098	44543099	+	Frame_Shift_Ins	INS	-	-	GC	rs373334809		TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr18:44543098_44543099insGC	ENST00000591973.2	-	1	1508_1509	c.1273_1274insGC	c.(1273-1275)cagfs	p.Q425fs	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_001242907.1	NP_001229836.1	A6NLF2	EA3L2_HUMAN	transcription elongation factor B polypeptide 3C-like 2	425	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)										TCGCAGCCGCTGCTCTCGGGCG	0.554																																																	0																																										SO:0001589	frameshift_variant	100506888				CCDS59316.1	18q21.1	2012-10-25			ENSG00000266996	ENSG00000274744			33511	protein-coding gene	gene with protein product							Standard	NM_001242907		Approved		uc021ujk.1	A6NLF2	OTTHUMG00000180382	ENST00000591973.2:c.1272_1273dupGC	18.37:g.44543099_44543100dupGC	ENSP00000468046:p.Gln425fs			Frame_Shift_Ins	INS	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.Q425fs	ENST00000591973.2	37	c.1274_1273	CCDS59316.1	18																																																																																			TCEB3CL2	-	pfam_RNA_pol_II_trans_fac_SIII_A		0.554	TCEB3CL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3CL2	HGNC	protein_coding	OTTHUMT00000451070.1	-	XM_929328		44543099	-1	no_errors	ENST00000591973	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	GC
TMCO4	255104	genome.wustl.edu	37	1	20073674	20073674	+	Nonsense_Mutation	SNP	C	C	A	rs149198268	byFrequency	TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr1:20073674C>A	ENST00000294543.6	-	8	836	c.595G>T	c.(595-597)Gga>Tga	p.G199*	TMCO4_ENST00000375122.2_Nonsense_Mutation_p.G199*|TMCO4_ENST00000375127.1_Nonsense_Mutation_p.G199*	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	199						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GTTCCGCCTCCGACAGTCGCC	0.547																																																	0													289.0	299.0	295.0					1																	20073674		2203	4300	6503	SO:0001587	stop_gained	255104				CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.595G>T	1.37:g.20073674C>A	ENSP00000294543:p.Gly199*		Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Nonsense_Mutation	SNP	pfam_DUF726,pfam_DUF900_hydrolase	p.G199*	ENST00000294543.6	37	c.595	CCDS198.1	1	.	.	.	.	.	.	.	.	.	.	C	38	6.681321	0.97759	.	.	ENSG00000162542	ENST00000294543;ENST00000375127;ENST00000375122	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-7.627	16.5105	0.84283	0.0:1.0:0.0:0.0	.	.	.	.	X	199	.	ENSP00000294543:G199X	G	-	1	0	TMCO4	19946261	1.000000	0.71417	0.980000	0.43619	0.934000	0.57294	6.689000	0.74562	2.484000	0.83849	0.655000	0.94253	GGA	TMCO4	-	pfam_DUF726		0.547	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO4	HGNC	protein_coding	OTTHUMT00000007658.1	C	NM_181719		20073674	-1	no_errors	ENST00000294543	ensembl	human	known	70_37	nonsense	SNP	0.999	A
TMEM108	66000	genome.wustl.edu	37	3	133099023	133099024	+	Frame_Shift_Ins	INS	-	-	C	rs200373483		TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr3:133099023_133099024insC	ENST00000321871.6	+	4	678_679	c.468_469insC	c.(469-471)cccfs	p.P157fs	TMEM108_ENST00000393130.3_Frame_Shift_Ins_p.P157fs|TMEM108_ENST00000515826.1_Frame_Shift_Ins_p.P157fs|TMEM108_ENST00000508711.1_Intron	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	157	Pro-rich.					integral component of membrane (GO:0016021)		p.A156A(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CCACCACAGCGCCCCCCCGCAC	0.703																																																	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)																																								SO:0001589	frameshift_variant	66000			AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"""cancer/testis antigen 124"""					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.475dupC	3.37:g.133099030_133099030dupC	ENSP00000324651:p.Pro157fs		D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Frame_Shift_Ins	INS	NULL	p.R158fs	ENST00000321871.6	37	c.468_469	CCDS33858.1	3																																																																																			TMEM108	-	NULL		0.703	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM108	HGNC	protein_coding	OTTHUMT00000356907.2	-	NM_023943		133099024	+1	no_errors	ENST00000321871	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.000	C
TRAFD1	10906	genome.wustl.edu	37	12	112572848	112572848	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr12:112572848A>G	ENST00000257604.5	+	4	832	c.215A>G	c.(214-216)aAg>aGg	p.K72R	TRAFD1_ENST00000412615.2_Missense_Mutation_p.K72R	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	72					negative regulation of innate immune response (GO:0045824)|response to cytokine (GO:0034097)		metal ion binding (GO:0046872)			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						AAGTTGGAGAAGAGGCTGTTA	0.458																																																	0													159.0	136.0	144.0					12																	112572848		2203	4300	6503	SO:0001583	missense	10906			AB007447	CCDS9160.1	12q24.13	2013-01-25			ENSG00000135148	ENSG00000135148			24808	protein-coding gene	gene with protein product		613197				12477932	Standard	NM_006700		Approved	FLN29	uc001ttp.3	O14545	OTTHUMG00000169640	ENST00000257604.5:c.215A>G	12.37:g.112572848A>G	ENSP00000257604:p.Lys72Arg		A8K5L6|B4DI89	Missense_Mutation	SNP	superfamily_TRAF-like	p.K72R	ENST00000257604.5	37	c.215	CCDS9160.1	12	.	.	.	.	.	.	.	.	.	.	A	12.15	1.853019	0.32699	.	.	ENSG00000135148	ENST00000412615;ENST00000549358;ENST00000257604;ENST00000552896	T;T;T;T	0.03441	3.93;3.93;3.93;3.93	4.89	2.13	0.27403	.	0.153884	0.56097	N	0.000034	T	0.02230	0.0069	N	0.17594	0.5	0.39994	D	0.975082	B;B	0.20671	0.011;0.047	B;B	0.18561	0.01;0.022	T	0.51942	-0.8641	10	0.15952	T	0.53	-20.1416	7.3706	0.26800	0.6969:0.0:0.3031:0.0	.	72;72	F8VNX8;O14545	.;TRAD1_HUMAN	R	72	ENSP00000396526:K72R;ENSP00000449319:K72R;ENSP00000257604:K72R;ENSP00000450357:K72R	ENSP00000257604:K72R	K	+	2	0	TRAFD1	111057231	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	2.523000	0.45580	0.715000	0.32103	0.454000	0.30748	AAG	TRAFD1	-	NULL		0.458	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAFD1	HGNC	protein_coding	OTTHUMT00000405214.1	A	NM_006700		112572848	+1	no_errors	ENST00000257604	ensembl	human	known	70_37	missense	SNP	0.971	G
TMEM233	387890	genome.wustl.edu	37	12	120031686	120031686	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr12:120031686G>T	ENST00000426426.1	+	1	423	c.33G>T	c.(31-33)aaG>aaT	p.K11N	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_001136534.1	NP_001130006.1	B4DJY2	TM233_HUMAN	transmembrane protein 233	11					response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)				endometrium(1)	1						CGGACTTCAAGAGGGCTTTGG	0.657																																																	0													210.0	182.0	190.0					12																	120031686		692	1591	2283	SO:0001583	missense	387890				CCDS44995.1	12q24.23	2009-10-16			ENSG00000224982	ENSG00000224982			37219	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 2"""						Standard	NM_001136534		Approved	IFITMD2	uc010szd.1	B4DJY2	OTTHUMG00000168944	ENST00000426426.1:c.33G>T	12.37:g.120031686G>T	ENSP00000403130:p.Lys11Asn			Missense_Mutation	SNP	pfam_Interferon-induced_TM_protein	p.K11N	ENST00000426426.1	37	c.33	CCDS44995.1	12	.	.	.	.	.	.	.	.	.	.	G	18.63	3.664637	0.67700	.	.	ENSG00000224982	ENST00000426426	D	0.95518	-3.73	4.18	2.19	0.27852	.	.	.	.	.	D	0.94016	0.8083	N	0.22421	0.69	0.30117	N	0.806051	D	0.76494	0.999	D	0.67900	0.954	D	0.88594	0.3145	8	.	.	.	.	7.4595	0.27287	0.2899:0.0:0.7101:0.0	.	11	B4DJY2	TM233_HUMAN	N	11	ENSP00000403130:K11N	.	K	+	3	2	TMEM233	118516069	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	2.275000	0.43399	0.333000	0.23563	0.555000	0.69702	AAG	TMEM233	-	NULL		0.657	TMEM233-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM233	HGNC	protein_coding	OTTHUMT00000401684.1	G	NM_001136534		120031686	+1	no_errors	ENST00000426426	ensembl	human	known	70_37	missense	SNP	0.998	T
TSPYL2	64061	genome.wustl.edu	37	X	53114244	53114244	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chrX:53114244C>G	ENST00000375442.4	+	4	1238	c.1106C>G	c.(1105-1107)tCa>tGa	p.S369*		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	369					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|chromatin modification (GO:0016568)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA replication (GO:0008156)|nucleosome assembly (GO:0006334)|regulation of protein kinase activity (GO:0045859)|regulation of signal transduction (GO:0009966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	rDNA binding (GO:0000182)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						AGCTGGTTCTCAAACCATAGC	0.617																																																	0													34.0	33.0	33.0					X																	53114244		2203	4300	6503	SO:0001587	stop_gained	64061			AF273046	CCDS14350.1	Xp11	2014-06-09			ENSG00000184205	ENSG00000184205			24358	protein-coding gene	gene with protein product		300564				11318608, 11395479	Standard	NM_022117		Approved	SE20-4, HRIHFB2216, CTCL, DENTT, CDA1, CINAP, TSPX	uc004drw.3	Q9H2G4	OTTHUMG00000021597	ENST00000375442.4:c.1106C>G	X.37:g.53114244C>G	ENSP00000364591:p.Ser369*		O94799|Q96DG7|Q9BZW6	Nonsense_Mutation	SNP	pfam_NAP_family	p.S369*	ENST00000375442.4	37	c.1106	CCDS14350.1	X	.	.	.	.	.	.	.	.	.	.	C	36	5.880871	0.97062	.	.	ENSG00000184205	ENST00000375442	.	.	.	3.33	2.46	0.29980	.	0.000000	0.34291	N	0.004085	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.1471	8.0287	0.30453	0.0:0.8697:0.0:0.1303	.	.	.	.	X	369	.	ENSP00000364591:S369X	S	+	2	0	TSPYL2	53130969	0.999000	0.42202	0.958000	0.39756	0.980000	0.70556	2.110000	0.41873	0.787000	0.33731	0.513000	0.50165	TCA	TSPYL2	-	pfam_NAP_family		0.617	TSPYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL2	HGNC	protein_coding	OTTHUMT00000056718.1	C	NM_022117		53114244	+1	no_errors	ENST00000375442	ensembl	human	known	70_37	nonsense	SNP	0.994	G
TTN	7273	genome.wustl.edu	37	2	179392002	179392002	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr2:179392002C>T	ENST00000591111.1	-	313	103014	c.102790G>A	c.(102790-102792)Gat>Aat	p.D34264N	TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D33337N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D35905N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D26840N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D26965N|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D27032N|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000592161.1_RNA			Q8WZ42	TITIN_HUMAN	titin	34264	Ig-like 152.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGCTGATATCAGATGGAAGA	0.393																																																	0													67.0	57.0	60.0					2																	179392002		1859	4092	5951	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.102790G>A	2.37:g.179392002C>T	ENSP00000465570:p.Asp34264Asn		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,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	p.D33337N	ENST00000591111.1	37	c.100009		2	.	.	.	.	.	.	.	.	.	.	C	18.04	3.533836	0.64972	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	6.06	6.06	0.98353	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.57446	0.2054	L	0.35288	1.05	0.52099	D	0.999946	D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0	D;D;D;D;D	0.74674	0.947;0.947;0.947;0.979;0.984	T	0.57118	-0.7866	9	0.87932	D	0	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	26840;26965;27032;34264;33337	D3DPF9;E7EQE6;E7ET18;Q8WZ42;A6NKB1	.;.;.;TITIN_HUMAN;.	N	33337;26840;27032;26965;26837	ENSP00000343764:D33337N;ENSP00000434586:D26840N;ENSP00000340554:D27032N;ENSP00000352154:D26965N	ENSP00000340554:D27032N	D	-	1	0	TTN	179100248	1.000000	0.71417	0.976000	0.42696	0.886000	0.51366	6.023000	0.70848	2.882000	0.98803	0.655000	0.94253	GAT	TTN	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179392002	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T
UGT2B10	7365	genome.wustl.edu	37	4	69692206	69692206	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr4:69692206G>A	ENST00000265403.7	+	4	1105	c.1078G>A	c.(1078-1080)Gac>Aac	p.D360N	UGT2B10_ENST00000458688.2_Missense_Mutation_p.D276N	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	360					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						ACCCCAGAATGACCTTCTAGG	0.373																																					Melanoma(133;755 1763 25578 26334 46021)												0													125.0	118.0	121.0					4																	69692206		2203	4300	6503	SO:0001583	missense	7365			X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"""UDP glucuronosyltransferases"""	12544	protein-coding gene	gene with protein product		600070	"""UDP glycosyltransferase 2 family, polypeptide B10"""			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.1078G>A	4.37:g.69692206G>A	ENSP00000265403:p.Asp360Asn		A8K9M3|B4DPP1|Q14CR8	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.D360N	ENST00000265403.7	37	c.1078		4	.	.	.	.	.	.	.	.	.	.	g	13.85	2.360070	0.41801	.	.	ENSG00000109181	ENST00000265403;ENST00000458688	T;T	0.65732	-0.17;-0.17	2.25	2.25	0.28309	.	0.000000	0.64402	U	0.000001	D	0.82921	0.5142	H	0.96142	3.775	0.28529	N	0.912662	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.76926	-0.2778	10	0.87932	D	0	.	9.874	0.41191	0.0:0.0:1.0:0.0	.	276;360	B4DPP1;P36537	.;UDB10_HUMAN	N	360;276	ENSP00000265403:D360N;ENSP00000413420:D276N	ENSP00000265403:D360N	D	+	1	0	UGT2B10	69726795	1.000000	0.71417	0.997000	0.53966	0.048000	0.14542	7.614000	0.82996	1.089000	0.41292	0.184000	0.17185	GAC	UGT2B10	-	pfam_UDP_glucos_trans		0.373	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	UGT2B10	HGNC	protein_coding	OTTHUMT00000365169.1	G	NM_001075		69692206	+1	no_errors	ENST00000265403	ensembl	human	known	70_37	missense	SNP	1.000	A
UNC13B	10497	genome.wustl.edu	37	9	35403968	35403968	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr9:35403968G>A	ENST00000378495.3	+	39	4936	c.4714G>A	c.(4714-4716)Gag>Aag	p.E1572K	UNC13B_ENST00000396787.1_Missense_Mutation_p.E1603K|UNC13B_ENST00000378496.4_Missense_Mutation_p.E1591K|ATP8B5P_ENST00000430846.1_RNA	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1572					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GAGCAATGACGAGGTGGCCCG	0.547																																																	0													65.0	65.0	65.0					9																	35403968		2203	4300	6503	SO:0001583	missense	10497			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.4714G>A	9.37:g.35403968G>A	ENSP00000367756:p.Glu1572Lys		Q5VYM8	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.E1603K	ENST00000378495.3	37	c.4807	CCDS6579.1	9	.	.	.	.	.	.	.	.	.	.	G	35	5.550058	0.96501	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	D;D;D	0.85088	-1.81;-1.7;-1.94	5.95	5.95	0.96441	.	0.107762	0.64402	D	0.000006	D	0.91147	0.7212	M	0.81942	2.565	0.80722	D	1	D;D	0.67145	0.996;0.995	P;P	0.53912	0.737;0.6	D	0.91641	0.5327	10	0.87932	D	0	-24.1616	20.3931	0.98965	0.0:0.0:1.0:0.0	.	1591;1572	F8W8M9;O14795	.;UN13B_HUMAN	K	1603;1572;1591;1178	ENSP00000380006:E1603K;ENSP00000367756:E1572K;ENSP00000367757:E1591K	ENSP00000367756:E1572K	E	+	1	0	UNC13B	35393968	1.000000	0.71417	0.969000	0.41365	0.969000	0.65631	9.760000	0.98935	2.824000	0.97209	0.655000	0.94253	GAG	UNC13B	-	NULL		0.547	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13B	HGNC	protein_coding	OTTHUMT00000052296.1	G	NM_006377		35403968	+1	no_errors	ENST00000396787	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF41	7592	genome.wustl.edu	37	X	47307757	47307757	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chrX:47307757T>C	ENST00000377065.4	-	5	2051	c.1412A>G	c.(1411-1413)gAc>gGc	p.D471G	ZNF41_ENST00000313116.7_Missense_Mutation_p.D471G|ZNF41_ENST00000465311.1_5'Flank|ZNF41_ENST00000397050.2_Missense_Mutation_p.D481G	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	513					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				TTTCCCACAGTCACTGCATTC	0.428																																																	0													93.0	85.0	88.0					X																	47307757		2203	4300	6503	SO:0001583	missense	7592			X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.1412A>G	X.37:g.47307757T>C	ENSP00000366265:p.Asp471Gly		A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	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.D481G	ENST00000377065.4	37	c.1442	CCDS14279.1	X	.	.	.	.	.	.	.	.	.	.	T	10.34	1.323441	0.24080	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050	T;T;T	0.07327	3.2;3.2;3.2	3.98	3.98	0.46160	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.205890	0.24309	N	0.039651	T	0.10852	0.0265	N	0.25957	0.775	0.09310	N	1	B;B;P;B;B	0.51791	0.065;0.065;0.948;0.152;0.183	B;B;P;B;B	0.52823	0.075;0.075;0.71;0.107;0.171	T	0.07693	-1.0759	10	0.51188	T	0.08	.	10.3222	0.43773	0.0:0.0:0.0:1.0	.	471;473;481;505;513	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	G	471;471;481	ENSP00000315173:D471G;ENSP00000366265:D471G;ENSP00000380243:D481G	ENSP00000315173:D471G	D	-	2	0	ZNF41	47192701	0.007000	0.16637	0.004000	0.12327	0.327000	0.28475	1.596000	0.36718	1.798000	0.52647	0.486000	0.48141	GAC	ZNF41	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.428	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF41	HGNC	protein_coding	OTTHUMT00000056429.1	T	NM_153380		47307757	-1	no_errors	ENST00000397050	ensembl	human	known	70_37	missense	SNP	0.002	C
ZNF568	374900	genome.wustl.edu	37	19	37487754	37487754	+	Silent	SNP	G	G	A			TCGA-FU-A770-01A-11D-A33O-09	TCGA-FU-A770-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e7037ea0-11e6-4f5d-9d78-3ee3c13dfeec	32316bce-291a-4783-976a-c5df20f76546	g.chr19:37487754G>A	ENST00000455427.2	+	9	1298	c.969G>A	c.(967-969)agG>agA	p.R323R		NM_001204839.1	NP_001191768.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	354					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGCATCAGAGGATGCATCTTG	0.433																																																	0																																										SO:0001819	synonymous_variant	374900			BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000455427.2:c.969G>A	19.37:g.37487754G>A			B4DS92|E7ER33|Q6N060|Q8NA64	Silent	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.R323	ENST00000455427.2	37	c.969	CCDS56093.1	19																																																																																			ZNF568	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.433	ZNF568-007	KNOWN	basic|CCDS	protein_coding	ZNF568	HGNC	protein_coding	OTTHUMT00000457465.1	G	NM_198539		37487754	+1	no_errors	ENST00000455427	ensembl	human	known	70_37	silent	SNP	0.018	A
