#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_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_header	i_normal_VAF	i_normal_ref_reads	i_normal_var_reads	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_tier	i_title	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_VAF	i_tumor_ref_reads	i_tumor_var_reads	i_type	i_ucsc_cons	i_variant
AARS	16	genome.wustl.edu	37	16	70301615	70301615	+	Missense_Mutation	SNP	C	C	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr16:70301615C>T	ENST00000261772.8	-	9	1312	c.1169G>A	c.(1168-1170)cGt>cAt	p.R390H	AARS_ENST00000564359.1_5'Flank	NM_001605.2	NP_001596.2			alanyl-tRNA synthetase											breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)		CAGGATGCGACGCCCTCTGCT	0.507											OREG0023913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													130.0	115.0	120.0					16																	70301615		2198	4300	6498	SO:0001583	missense	0			D32050	CCDS32474.1	16q22.1	2014-09-17			ENSG00000090861	ENSG00000090861	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	20	protein-coding gene	gene with protein product	"""alanine tRNA ligase 1, cytoplasmic"""	601065				8595897	Standard	NM_001605		Approved		uc002eyn.1	P49588	OTTHUMG00000177042	ENST00000261772.8:c.1169G>A	16.37:g.70301615C>T	ENSP00000261772:p.Arg390His	1121		Missense_Mutation	SNP	pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,pfam_Pesterase_DHHA1,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc	p.R390H	ENST00000261772.8	37	c.1169	CCDS32474.1	16	.	.	.	.	.	.	.	.	.	.	C	23.0	4.356912	0.82243	.	.	ENSG00000090861	ENST00000261772	T	0.57907	0.37	5.81	5.81	0.92471	Alanyl-tRNA synthetase, class IIc, anti-codon-binding domain (1);Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.137899	0.64402	N	0.000002	T	0.60637	0.2284	M	0.73430	2.235	0.80722	D	1	P;P	0.51057	0.941;0.894	P;P	0.48627	0.584;0.584	T	0.57136	-0.7863	10	0.15499	T	0.54	-7.5278	17.5723	0.87937	0.0:1.0:0.0:0.0	.	398;390	E7ETK8;P49588	.;SYAC_HUMAN	H	390	ENSP00000261772:R390H	ENSP00000261772:R390H	R	-	2	0	AARS	68859116	1.000000	0.71417	0.997000	0.53966	0.888000	0.51559	7.786000	0.85741	2.736000	0.93811	0.655000	0.94253	CGT	AARS	-	pfam_Ala-tRNA-synth_IIc_N,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc	ENSG00000090861		0.507	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AARS	HGNC	protein_coding	OTTHUMT00000435021.2	-	0.00	41	0	C	NM_001605		70301615	-1	tier1	-	no_errors	ENST00000261772	ensembl	human	known	74_37	missense	58.82	21	30	SNP	1.000	T
AARS2	57505	genome.wustl.edu	37	6	44274691	44274691	+	Missense_Mutation	SNP	C	C	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr6:44274691C>T	ENST00000244571.4	-	7	1120	c.1118G>A	c.(1117-1119)gGc>gAc	p.G373D	TMEM151B_ENST00000438774.2_Silent_p.C196C|RP11-444E17.6_ENST00000505802.1_Missense_Mutation_p.P109S	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TACCAGGCTGCCTAGGAAGCC	0.567																																																	0													93.0	86.0	89.0					6																	44274691		2203	4300	6503	SO:0001583	missense	0			AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.1118G>A	6.37:g.44274691C>T	ENSP00000244571:p.Gly373Asp			Missense_Mutation	SNP	pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc	p.G373D	ENST00000244571.4	37	c.1118	CCDS34464.1	6	.	.	.	.	.	.	.	.	.	.	C	19.21	3.784270	0.70222	.	.	ENSG00000124608	ENST00000244571	T	0.71579	-0.58	4.54	4.54	0.55810	Alanyl-tRNA synthetase, class IIc, anti-codon-binding domain (1);Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.165784	0.52532	D	0.000076	T	0.56337	0.1978	L	0.39245	1.2	0.42055	D	0.991136	P	0.47841	0.901	P	0.47299	0.543	T	0.59836	-0.7379	10	0.41790	T	0.15	-18.218	12.0005	0.53228	0.0:0.6711:0.3289:0.0	.	373	Q5JTZ9	SYAM_HUMAN	D	373	ENSP00000244571:G373D	ENSP00000244571:G373D	G	-	2	0	AARS2	44382669	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	6.554000	0.73923	2.353000	0.79882	0.561000	0.74099	GGC	AARS2	-	pfam_Ala-tRNA-synth_IIc_N,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc	ENSG00000124608		0.567	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AARS2	HGNC	protein_coding	OTTHUMT00000040741.2		0.00	60	0	C	NM_020745		44274691	-1			no_errors	ENST00000244571	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T
ABCC12	94160	genome.wustl.edu	37	16	48125076	48125076	+	Silent	SNP	C	C	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr16:48125076C>T	ENST00000311303.3	-	23	3585	c.3240G>A	c.(3238-3240)acG>acA	p.T1080T	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1080	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				ATTTGGCTTGCGTCTCTGTTC	0.532																																																	0													165.0	154.0	158.0					16																	48125076		2201	4300	6501	SO:0001819	synonymous_variant	0			AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.3240G>A	16.37:g.48125076C>T			Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.T1080	ENST00000311303.3	37	c.3240	CCDS10730.1	16																																																																																			ABCC12	-	superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000140798		0.532	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC12	HGNC	protein_coding	OTTHUMT00000256837.1	-	0.00	17	0	C	NM_033226		48125076	-1	tier1	-	no_errors	ENST00000311303	ensembl	human	known	74_37	silent	33.33	16	8	SNP	1.000	T
ACSS2	55902	genome.wustl.edu	37	20	33508926	33508926	+	Missense_Mutation	SNP	G	G	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr20:33508926G>T	ENST00000360596.2	+	10	1472	c.1261G>T	c.(1261-1263)Gat>Tat	p.D421Y	ACSS2_ENST00000336325.4_Missense_Mutation_p.D371Y|ACSS2_ENST00000253382.5_Missense_Mutation_p.D434Y|ACSS2_ENST00000476922.1_Intron	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	421					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)	p.D421N(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GAAGTTTGGAGATGAGCCTGT	0.522																																																	1	Substitution - Missense(1)	lung(1)											183.0	166.0	172.0					20																	33508926		2203	4300	6503	SO:0001583	missense	0			AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"""Acyl-CoA synthetase family"""	15814	protein-coding gene	gene with protein product		605832	"""acetyl-Coenzyme A synthetase 2 (ADP forming)"""	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.1261G>T	20.37:g.33508926G>T	ENSP00000353804:p.Asp421Tyr		A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.D434Y	ENST00000360596.2	37	c.1300	CCDS13243.1	20	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602167	0.66445	.	.	ENSG00000131069	ENST00000336325;ENST00000360596;ENST00000374693;ENST00000542204;ENST00000253382	T;T;T	0.42513	0.97;0.97;0.97	5.53	5.53	0.82687	AMP-dependent synthetase/ligase (1);	0.225320	0.51477	D	0.000086	T	0.71626	0.3362	M	0.91818	3.245	0.48762	D	0.999708	P;P	0.51240	0.943;0.943	P;P	0.61275	0.823;0.886	T	0.77230	-0.2664	10	0.87932	D	0	-22.0296	19.6556	0.95837	0.0:0.0:1.0:0.0	.	434;421	Q5QPH3;Q9NR19	.;ACSA_HUMAN	Y	371;421;419;129;434	ENSP00000337190:D371Y;ENSP00000353804:D421Y;ENSP00000253382:D434Y	ENSP00000253382:D434Y	D	+	1	0	ACSS2	32972587	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.360000	0.52299	2.882000	0.98803	0.655000	0.94253	GAT	ACSS2	-	pfam_AMP-dep_Synth/Lig	ENSG00000131069		0.522	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSS2	HGNC	protein_coding	OTTHUMT00000078823.3		0.00	28	0	G	NM_018677		33508926	+1			no_errors	ENST00000253382	ensembl	human	known	74_37	missense	6.90	27	2	SNP	1.000	T
ACTBL2	345651	genome.wustl.edu	37	5	56778129	56778129	+	Missense_Mutation	SNP	C	C	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr5:56778129C>T	ENST00000423391.1	-	1	507	c.406G>A	c.(406-408)Gcc>Acc	p.A136T	AC025470.1_ENST00000584598.1_RNA|CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	136						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		GCCTGGATGGCGACATACATG	0.557																																																	0													114.0	96.0	102.0					5																	56778129		2203	4300	6503	SO:0001583	missense	0				CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.406G>A	5.37:g.56778129C>T	ENSP00000416706:p.Ala136Thr		B2RPJ1|Q562R2|Q562S9|Q562X8	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.A136T	ENST00000423391.1	37	c.406	CCDS34163.1	5	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338239	0.41398	.	.	ENSG00000169067	ENST00000423391	D	0.95137	-3.62	4.64	4.64	0.57946	.	0.000000	0.64402	D	0.000006	D	0.95726	0.8610	M	0.85859	2.78	0.58432	D	0.999992	B	0.27625	0.183	B	0.39562	0.303	D	0.95764	0.8803	10	0.87932	D	0	.	15.027	0.71677	0.0:1.0:0.0:0.0	.	136	Q562R1	ACTBL_HUMAN	T	136	ENSP00000416706:A136T	ENSP00000416706:A136T	A	-	1	0	ACTBL2	56813886	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	5.921000	0.70028	2.383000	0.81215	0.563000	0.77884	GCC	ACTBL2	-	pfam_Actin-related,smart_Actin-related	ENSG00000169067		0.557	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTBL2	HGNC	protein_coding	OTTHUMT00000368579.1	-	0.00	31	0	C	NM_001017992		56778129	-1	tier1	-	no_errors	ENST00000423391	ensembl	human	known	74_37	missense	42.22	26	19	SNP	1.000	T
ACTG2	72	genome.wustl.edu	37	2	74143777	74143777	+	Missense_Mutation	SNP	G	G	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr2:74143777G>A	ENST00000409624.1	+	9	1515	c.872G>A	c.(871-873)cGt>cAt	p.R291H	ACTG2_ENST00000409731.3_Missense_Mutation_p.R248H|ACTG2_ENST00000345517.3_Missense_Mutation_p.R291H			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	291					muscle contraction (GO:0006936)	blood microparticle (GO:0072562)|cell periphery (GO:0071944)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			large_intestine(3)|lung(14)|skin(1)	18						ATTGACATCCGTAAGGACTTA	0.517																																																	0													135.0	102.0	113.0					2																	74143777		2203	4300	6503	SO:0001583	missense	0				CCDS1930.1, CCDS56124.1	2p13.1	2008-05-20			ENSG00000163017	ENSG00000163017			145	protein-coding gene	gene with protein product		102545		ACTL3, ACTA3		1710027, 1673027	Standard	NM_001199893		Approved	ACTSG	uc002sjw.3	P63267	OTTHUMG00000129813	ENST00000409624.1:c.872G>A	2.37:g.74143777G>A	ENSP00000386857:p.Arg291His		B2R7E7|B4E315|D6W5H8|E9PG30|P12718|Q504R1|Q6FI22	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.R291H	ENST00000409624.1	37	c.872	CCDS1930.1	2	.	.	.	.	.	.	.	.	.	.	G	18.40	3.615313	0.66672	.	.	ENSG00000163017	ENST00000409731;ENST00000345517;ENST00000409624	D;D;D	0.95885	-3.84;-3.84;-3.84	4.1	4.1	0.47936	.	0.000000	0.64402	D	0.000001	D	0.97698	0.9245	M	0.90650	3.135	0.52501	D	0.999953	P;P	0.46220	0.672;0.874	B;P	0.59288	0.409;0.855	D	0.98766	1.0726	10	0.87932	D	0	.	15.5985	0.76606	0.0:0.0:1.0:0.0	.	248;291	E9PG30;P63267	.;ACTH_HUMAN	H	248;291;291	ENSP00000386929:R248H;ENSP00000295137:R291H;ENSP00000386857:R291H	ENSP00000295137:R291H	R	+	2	0	ACTG2	73997285	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.463000	0.97652	2.297000	0.77311	0.467000	0.42956	CGT	ACTG2	-	pfam_Actin-related,smart_Actin-related	ENSG00000163017		0.517	ACTG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACTG2	HGNC	protein_coding	OTTHUMT00000328086.1		0.00	48	0	G	NM_001615		74143777	+1			no_errors	ENST00000345517	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	A
ACVR1	90	genome.wustl.edu	37	2	158634691	158634691	+	Silent	SNP	G	G	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr2:158634691G>T	ENST00000263640.3	-	5	924	c.495C>A	c.(493-495)ggC>ggA	p.G165G	ACVR1_ENST00000487456.1_5'UTR|ACVR1_ENST00000434821.1_Silent_p.G165G|ACVR1_ENST00000410057.2_Silent_p.G165G|ACVR1_ENST00000409283.2_Silent_p.G165G	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	165					activin receptor signaling pathway (GO:0032924)|acute inflammatory response (GO:0002526)|atrial septum primum morphogenesis (GO:0003289)|BMP signaling pathway (GO:0030509)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to glucocorticoid stimulus (GO:0071385)|determination of left/right symmetry (GO:0007368)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion cell fate commitment (GO:0061445)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation with mouth forming second (GO:0001702)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|mesoderm formation (GO:0001707)|mitral valve morphogenesis (GO:0003183)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of signal transduction (GO:0009968)|neural crest cell migration (GO:0001755)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of bone mineralization (GO:0030501)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of ossification (GO:0030278)|regulation of skeletal muscle tissue development (GO:0048641)|smooth muscle cell differentiation (GO:0051145)|transforming growth factor beta receptor signaling pathway (GO:0007179)|urogenital system development (GO:0001655)	activin receptor complex (GO:0048179)|apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	CTTCGATAGTGCCATACTCCA	0.502																																																	0													148.0	129.0	135.0					2																	158634691		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2206.1	2q23-q24	2008-06-13			ENSG00000115170	ENSG00000115170			171	protein-coding gene	gene with protein product		102576		ACVRLK2		8397373	Standard	NM_001105		Approved	SKR1, ALK2, ACVR1A	uc010fog.2	Q04771	OTTHUMG00000131967	ENST00000263640.3:c.495C>A	2.37:g.158634691G>T				Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom	p.G165	ENST00000263640.3	37	c.495	CCDS2206.1	2																																																																																			ACVR1	-	NULL	ENSG00000115170		0.502	ACVR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR1	HGNC	protein_coding	OTTHUMT00000254927.1		0.00	49	0	G	NM_001105		158634691	-1			no_errors	ENST00000263640	ensembl	human	known	74_37	silent	5.41	70	4	SNP	0.664	T
ADAM21	8747	genome.wustl.edu	37	14	70924602	70924602	+	Missense_Mutation	SNP	T	T	G	rs72735759	byFrequency	TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr14:70924602T>G	ENST00000603540.1	+	2	644	c.386T>G	c.(385-387)tTt>tGt	p.F129C	ADAM21_ENST00000267499.3_Missense_Mutation_p.F129C|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	129					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AGTGCTTGTTTTGGGGGCTTT	0.463																																																	0													84.0	100.0	94.0					14																	70924602		2203	4300	6503	SO:0001583	missense	0			AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.386T>G	14.37:g.70924602T>G	ENSP00000474385:p.Phe129Cys		O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.F129C	ENST00000603540.1	37	c.386	CCDS9804.1	14	.	.	.	.	.	.	.	.	.	.	T	0.044	-1.273422	0.01421	.	.	ENSG00000139985	ENST00000267499	T	0.01133	5.29	3.76	-7.52	0.01341	Peptidase M12B, propeptide (1);	1.704650	0.03782	U	0.261498	T	0.01523	0.0049	L	0.60067	1.865	0.09310	N	1	B	0.33299	0.407	B	0.37780	0.258	T	0.14924	-1.0455	10	0.46703	T	0.11	.	1.36	0.02189	0.2433:0.3101:0.2623:0.1842	.	129	Q9UKJ8	ADA21_HUMAN	C	129	ENSP00000267499:F129C	ENSP00000267499:F129C	F	+	2	0	ADAM21	69994355	0.000000	0.05858	0.007000	0.13788	0.108000	0.19459	-1.073000	0.03430	-2.633000	0.00433	-0.379000	0.06801	TTT	ADAM21	-	pfam_Peptidase_M12B_N	ENSG00000139985		0.463	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM21	HGNC	protein_coding	OTTHUMT00000413008.3	-	0.00	40	0	T			70924602	+1	tier1	rs72735759	no_errors	ENST00000267499	ensembl	human	known	74_37	missense	11.43	31	4	SNP	0.000	G
ADAMTS19	171019	genome.wustl.edu	37	5	128984637	128984637	+	Missense_Mutation	SNP	T	T	G			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr5:128984637T>G	ENST00000274487.4	+	13	2277	c.2132T>G	c.(2131-2133)cTt>cGt	p.L711R	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	711	Cys-rich.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AAGCATATACTTCAGTGGCAA	0.433																																																	0													169.0	173.0	171.0					5																	128984637		2203	4300	6503	SO:0001583	missense	0			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.2132T>G	5.37:g.128984637T>G	ENSP00000274487:p.Leu711Arg			Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.L711R	ENST00000274487.4	37	c.2132	CCDS4146.1	5	.	.	.	.	.	.	.	.	.	.	T	12.40	1.925223	0.34002	.	.	ENSG00000145808	ENST00000274487	T	0.59083	0.29	4.41	1.89	0.25635	.	0.350989	0.22655	N	0.057271	T	0.21509	0.0518	N	0.01352	-0.895	0.34640	D	0.720525	P	0.41947	0.766	B	0.34242	0.178	T	0.28004	-1.0057	9	.	.	.	.	9.675	0.40034	0.6308:0.0:0.0:0.3691	.	711	Q8TE59	ATS19_HUMAN	R	711	ENSP00000274487:L711R	.	L	+	2	0	ADAMTS19	129012536	0.749000	0.28305	0.960000	0.40013	0.984000	0.73092	0.465000	0.22004	0.407000	0.25591	0.533000	0.62120	CTT	ADAMTS19	-	NULL	ENSG00000145808		0.433	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS19	HGNC	protein_coding	OTTHUMT00000250979.2	-	0.00	66	0	T	NM_133638		128984637	+1	tier1	-	no_errors	ENST00000274487	ensembl	human	known	74_37	missense	61.90	16	26	SNP	0.992	G
ADAR	103	genome.wustl.edu	37	1	154573584	154573584	+	Missense_Mutation	SNP	C	C	G			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr1:154573584C>G	ENST00000368474.4	-	2	1733	c.1534G>C	c.(1534-1536)Gcc>Ccc	p.A512P	ADAR_ENST00000368471.3_Missense_Mutation_p.A217P|ADAR_ENST00000471068.1_5'Flank|ADAR_ENST00000292205.5_Missense_Mutation_p.A555P	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	512	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GCGAACTGGGCATATTCTAAC	0.522																																																	0													101.0	103.0	103.0					1																	154573584		2203	4300	6503	SO:0001583	missense	0			BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.1534G>C	1.37:g.154573584C>G	ENSP00000357459:p.Ala512Pro		B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_dsRNA-bd_dom,smart_dsRNA_A_deaminase,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_dsRNA_A_deaminase,pfscan_A_deamin	p.A555P	ENST00000368474.4	37	c.1663	CCDS1071.1	1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.852190	0.51270	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29	4.77	3.85	0.44370	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.116384	0.64402	D	0.000019	D	0.85115	0.5623	M	0.87381	2.88	0.44995	D	0.998016	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.992;0.992;0.999	D	0.85655	0.1285	10	0.72032	D	0.01	-8.7104	4.2616	0.10744	0.3726:0.4688:0.0:0.1587	.	512;512;512	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	P	555;512;217;507	ENSP00000292205:A555P;ENSP00000357459:A512P;ENSP00000357456:A217P;ENSP00000431794:A507P	ENSP00000292205:A555P	A	-	1	0	ADAR	152840208	0.989000	0.36119	0.936000	0.37596	0.381000	0.30169	2.736000	0.47385	1.214000	0.43395	-0.314000	0.08810	GCC	ADAR	-	pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom	ENSG00000160710		0.522	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAR	HGNC	protein_coding	OTTHUMT00000090691.2	-	0.00	48	0	C	NM_001111		154573584	-1	tier1	-	no_errors	ENST00000292205	ensembl	human	known	74_37	missense	44.83	32	26	SNP	0.992	G
AMBRA1	55626	genome.wustl.edu	37	11	46568609	46568609	+	Intron	DEL	A	A	-			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr11:46568609delA	ENST00000458649.2	-	4	797				AMBRA1_ENST00000534300.1_Intron|AMBRA1_ENST00000426438.1_Intron|AMBRA1_ENST00000533727.1_Intron|AMBRA1_ENST00000314845.3_Intron|AMBRA1_ENST00000528950.1_Intron|AMBRA1_ENST00000298834.3_Intron			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1						autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		actccgtctcaaaaaaaaaaa	0.463																																																	0																																										SO:0001627	intron_variant	0			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.378+53T>-	11.37:g.46568609delA			A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	RNA	DEL	-	NULL	ENST00000458649.2	37	NULL		11																																																																																			AMBRA1	-	-	ENSG00000110497		0.463	AMBRA1-005	KNOWN	basic	protein_coding	AMBRA1	HGNC	protein_coding	OTTHUMT00000390103.1		0.00	30	0	A	NM_017749		46568609	-1	tier1		no_errors	ENST00000524783	ensembl	human	known	74_37	rna	10.71	25	3	DEL	0.881	-
ALDH3B1	221	genome.wustl.edu	37	11	67789291	67789291	+	Splice_Site	SNP	C	C	T	rs549718152|rs543365099	byFrequency	TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr11:67789291C>T	ENST00000539229.1	+	8	1013	c.897C>T	c.(895-897)tgC>tgT	p.C299C	ALDH3B1_ENST00000316367.6_Intron|RP5-901A4.1_ENST00000532296.1_RNA|ALDH3B1_ENST00000342456.6_Splice_Site_p.C263C|ALDH3B1_ENST00000007633.8_Splice_Site_p.C299C|ALDH3B1_ENST00000434449.1_3'UTR	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	300					alcohol metabolic process (GO:0006066)|aldehyde catabolic process (GO:0046185)|cellular response to oxidative stress (GO:0034599)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)										TGCTGGGCTGCGGCGTGTGGC	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		17407	0.0		0.0	False		,,,				2504	0.001																0													36.0	44.0	41.0					11																	67789291		2200	4294	6494	SO:0001630	splice_region_variant	0			U10868	CCDS73335.1, CCDS73336.1	11q13	2010-04-27			ENSG00000006534	ENSG00000006534	1.2.1.5	"""Aldehyde dehydrogenases"""	410	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 7"", ""aldehyde dehydrogenase 3B1"""	600466		ALDH7		9161417, 7828891	Standard	NM_000694		Approved		uc001ona.3	P43353	OTTHUMG00000154910	ENST00000539229.1:c.897+1C>T	11.37:g.67789291C>T			A3FMP9|Q53XL5|Q8N515|Q96CK8	Silent	SNP	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)	p.C299	ENST00000539229.1	37	c.897		11																																																																																			ALDH3B1	-	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)	ENSG00000006534		0.642	ALDH3B1-204	KNOWN	basic|appris_principal	protein_coding	ALDH3B1	HGNC	protein_coding		-	0.00	71	0	C	NM_000694	Silent	67789291	+1	tier1	-	no_errors	ENST00000007633	ensembl	human	known	74_37	silent	33.65	68	35	SNP	0.614	T
AMPD2	271	genome.wustl.edu	37	1	110170831	110170831	+	Missense_Mutation	SNP	C	C	T	rs373128067		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr1:110170831C>T	ENST00000256578.3	+	10	1729	c.1369C>T	c.(1369-1371)Cgg>Tgg	p.R457W	AMPD2_ENST00000393688.3_Missense_Mutation_p.R338W|AMPD2_ENST00000528454.1_Missense_Mutation_p.R339W|AMPD2_ENST00000358729.4_Missense_Mutation_p.R382W|AMPD2_ENST00000526301.1_3'UTR|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000342115.4_Missense_Mutation_p.R376W|AMPD2_ENST00000528667.1_Missense_Mutation_p.R457W	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	457					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		ACAGACGCTGCGGGAGGTCTT	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		19990	0.001		0.0	False		,,,				2504	0.0																0								C	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	72.0	71.0	71.0		1369,1126,1012	3.1	1.0	1		71	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	AMPD2	NM_004037.6,NM_139156.2,NM_203404.1	101,101,101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	457/880,376/799,338/761	110170831	2,13004	2203	4300	6503	SO:0001583	missense	0			S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"""AMPD isoform L"""	102771	"""adenosine monophosphate deaminase 2 (isoform L)"""			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.1369C>T	1.37:g.110170831C>T	ENSP00000256578:p.Arg457Trp		B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Missense_Mutation	SNP	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase	p.R457W	ENST00000256578.3	37	c.1369	CCDS805.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.14|18.14	3.558187|3.558187	0.65538|0.65538	0.0|0.0	2.33E-4|2.33E-4	ENSG00000116337|ENSG00000116337	ENST00000369840|ENST00000342115;ENST00000528667;ENST00000256578;ENST00000358729;ENST00000528454;ENST00000393688	.|D;D;D;D;D;D	.|0.84298	.|-1.83;-1.83;-1.83;-1.83;-1.83;-1.83	5.04|5.04	3.13|3.13	0.36017|0.36017	.|Adenosine/AMP deaminase (1);	.|0.182497	.|0.45867	.|D	.|0.000340	D|D	0.85483|0.85483	0.5707|0.5707	M|M	0.78916|0.78916	2.43|2.43	0.31269|0.31269	N|N	0.692021|0.692021	.|D;D;D;D	.|0.76494	.|0.966;0.982;0.999;0.982	.|B;P;P;P	.|0.55749	.|0.332;0.559;0.783;0.559	D|D	0.83654|0.83654	0.0157|0.0157	5|10	.|0.87932	.|D	.|0	-35.2044|-35.2044	12.6585|12.6585	0.56801|0.56801	0.4249:0.5751:0.0:0.0|0.4249:0.5751:0.0:0.0	.|.	.|382;338;457;376	.|Q01433-4;Q01433-3;Q01433;Q01433-2	.|.;.;AMPD2_HUMAN;.	V|W	427|376;457;457;382;339;338	.|ENSP00000345498:R376W;ENSP00000436541:R457W;ENSP00000256578:R457W;ENSP00000351573:R382W;ENSP00000437164:R339W;ENSP00000377292:R338W	.|ENSP00000256578:R457W	A|R	+|+	2|1	0|2	AMPD2|AMPD2	109972354|109972354	0.987000|0.987000	0.35691|0.35691	0.999000|0.999000	0.59377|0.59377	0.952000|0.952000	0.60782|0.60782	2.191000|2.191000	0.42640|0.42640	0.685000|0.685000	0.31468|0.31468	-0.314000|-0.314000	0.08810|0.08810	GCG|CGG	AMPD2	-	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase	ENSG00000116337		0.602	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMPD2	HGNC	protein_coding	OTTHUMT00000390615.1		0.00	14	0	C			110170831	+1			no_errors	ENST00000256578	ensembl	human	known	74_37	missense	12.50	21	3	SNP	0.995	T
AMPH	273	genome.wustl.edu	37	7	38468079	38468079	+	Intron	SNP	T	T	G			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr7:38468079T>G	ENST00000356264.2	-	14	1398				AMPH_ENST00000471913.1_5'UTR|AMPH_ENST00000428293.2_Intron|AMPH_ENST00000325590.5_Intron	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin						endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						ACAGCCTGATTTTTATCCCTG	0.373																																																	0																																										SO:0001627	intron_variant	0				CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1182+1362A>C	7.37:g.38468079T>G			A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	RNA	SNP	-	NULL	ENST00000356264.2	37	NULL	CCDS5456.1	7																																																																																			AMPH	-	-	ENSG00000078053		0.373	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMPH	HGNC	protein_coding	OTTHUMT00000226953.2	-	0.00	46	0	T	NM_001635		38468079	-1	tier1	-	no_errors	ENST00000471913	ensembl	human	known	74_37	rna	34.48	38	20	SNP	0.099	G
ANGEL2	90806	genome.wustl.edu	37	1	213178473	213178473	+	Missense_Mutation	SNP	T	T	C	rs200576994		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr1:213178473T>C	ENST00000366962.3	-	5	1190	c.1036A>G	c.(1036-1038)Att>Gtt	p.I346V	ANGEL2_ENST00000473303.1_5'Flank|ANGEL2_ENST00000535388.1_Missense_Mutation_p.I177V|ANGEL2_ENST00000540642.1_Missense_Mutation_p.I220V|ANGEL2_ENST00000544555.1_Missense_Mutation_p.I177V|ANGEL2_ENST00000360506.2_Missense_Mutation_p.I177V	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	346										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		CACATAACAATAGGGCAGAAG	0.418																																																	0													104.0	95.0	98.0					1																	213178473		2203	4300	6503	SO:0001583	missense	0			AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.1036A>G	1.37:g.213178473T>C	ENSP00000355929:p.Ile346Val		B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.I346V	ENST00000366962.3	37	c.1036	CCDS1512.1	1	.	.	.	.	.	.	.	.	.	.	T	6.378	0.437836	0.12104	.	.	ENSG00000174606	ENST00000366962;ENST00000360506;ENST00000544555;ENST00000540642;ENST00000535388	T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16	5.61	3.31	0.37934	Endonuclease/exonuclease/phosphatase (2);	0.050712	0.85682	D	0.000000	T	0.51753	0.1693	N	0.05574	-0.02	0.28785	N	0.899629	B;B	0.19073	0.002;0.033	B;B	0.18871	0.008;0.023	T	0.37384	-0.9708	10	0.10636	T	0.68	-16.7255	6.0299	0.19675	0.0:0.2086:0.1275:0.6638	.	220;346	F5H476;Q5VTE6	.;ANGE2_HUMAN	V	346;177;177;220;177	ENSP00000355929:I346V;ENSP00000353696:I177V;ENSP00000443193:I177V;ENSP00000446124:I220V;ENSP00000438141:I177V	ENSP00000353696:I177V	I	-	1	0	ANGEL2	211245096	0.903000	0.30736	0.225000	0.23894	0.955000	0.61496	1.421000	0.34815	0.418000	0.25898	0.528000	0.53228	ATT	ANGEL2	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	ENSG00000174606		0.418	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGEL2	HGNC	protein_coding	OTTHUMT00000089693.1	-	0.00	56	0	T	NM_144567		213178473	-1	tier1	rs200576994	no_errors	ENST00000366962	ensembl	human	known	74_37	missense	37.84	46	28	SNP	0.030	C
ARCN1	372	genome.wustl.edu	37	11	118452049	118452049	+	Missense_Mutation	SNP	G	G	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr11:118452049G>A	ENST00000264028.4	+	2	187	c.92G>A	c.(91-93)gGc>gAc	p.G31D	ARCN1_ENST00000534182.2_Missense_Mutation_p.G31D|ARCN1_ENST00000359415.4_Missense_Mutation_p.G72D|ARCN1_ENST00000392859.3_Intron	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	31					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CGGATTGAGGGCTTATTAGCA	0.458																																																	0													118.0	109.0	112.0					11																	118452049		2200	4295	6495	SO:0001583	missense	0			X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"""coatomer protein complex, subunit delta"""	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.92G>A	11.37:g.118452049G>A	ENSP00000264028:p.Gly31Asp		B4E1X2|E9PEU4|Q52M80	Missense_Mutation	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pfscan_Clathrin_mu_C	p.G31D	ENST00000264028.4	37	c.92	CCDS8400.1	11	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732664	0.89482	.	.	ENSG00000095139	ENST00000359415;ENST00000542521;ENST00000534182;ENST00000264028	T;T	0.34275	1.37;1.4	5.55	4.64	0.57946	Longin-like (1);AP complex, mu/sigma subunit (1);	0.045370	0.85682	N	0.000000	T	0.69043	0.3067	M	0.93550	3.43	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.997	T	0.78588	-0.2146	10	0.87932	D	0	-20.0651	14.3731	0.66854	0.0709:0.0:0.9291:0.0	.	31;72;31	E9PK34;B0YIW6;P48444	.;.;COPD_HUMAN	D	72;31;31;31	ENSP00000352385:G72D;ENSP00000264028:G31D	ENSP00000264028:G31D	G	+	2	0	ARCN1	117957259	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.390000	0.97246	1.369000	0.46134	0.643000	0.83706	GGC	ARCN1	-	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom	ENSG00000095139		0.458	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARCN1	HGNC	protein_coding	OTTHUMT00000389278.1	-	0.00	53	0	G			118452049	+1	tier1	-	no_errors	ENST00000264028	ensembl	human	known	74_37	missense	52.00	24	26	SNP	1.000	A
ARHGEF25	115557	genome.wustl.edu	37	12	58007066	58007066	+	Missense_Mutation	SNP	C	C	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr12:58007066C>A	ENST00000286494.4	+	3	792	c.332C>A	c.(331-333)gCt>gAt	p.A111D	AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000610219.1_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.A150D|AC025165.8_ENST00000593846.1_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	111						cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						TTGGAGCCAGCTCTAGCCACA	0.602																																																	0													41.0	38.0	39.0					12																	58007066		2203	4300	6503	SO:0001583	missense	0				CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"""Rho guanine nucleotide exchange factors"""	30275	protein-coding gene	gene with protein product	"""RAC/CDC42 exchange factor"""	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.332C>A	12.37:g.58007066C>A	ENSP00000286494:p.Ala111Asp		A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.A150D	ENST00000286494.4	37	c.449	CCDS8947.1	12	.	.	.	.	.	.	.	.	.	.	c	3.316	-0.139703	0.06669	.	.	ENSG00000240771	ENST00000333972;ENST00000286494	T;T	0.47528	0.84;0.84	3.37	3.37	0.38596	.	0.646875	0.12891	N	0.430560	T	0.32704	0.0838	N	0.22421	0.69	0.26650	N	0.972118	B;B	0.25609	0.13;0.01	B;B	0.28849	0.095;0.029	T	0.16129	-1.0413	10	0.17369	T	0.5	.	10.4414	0.44469	0.0:1.0:0.0:0.0	.	150;111	F8W7Z4;Q86VW2	.;ARHGP_HUMAN	D	150;111	ENSP00000335560:A150D;ENSP00000286494:A111D	ENSP00000286494:A111D	A	+	2	0	ARHGEF25	56293333	0.052000	0.20516	0.998000	0.56505	0.049000	0.14656	0.867000	0.27968	1.909000	0.55274	0.455000	0.32223	GCT	ARHGEF25	-	NULL	ENSG00000240771		0.602	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	ARHGEF25	HGNC	protein_coding	OTTHUMT00000326561.1	-	0.00	28	0	C	NM_133483		58007066	+1	tier1	-	no_errors	ENST00000333972	ensembl	human	known	74_37	missense	50.00	22	22	SNP	0.999	A
ATP8B3	148229	genome.wustl.edu	37	19	1806659	1806659	+	Missense_Mutation	SNP	G	G	T	rs377352805		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr19:1806659G>T	ENST00000310127.6	-	7	883	c.645C>A	c.(643-645)aaC>aaA	p.N215K	ATP8B3_ENST00000526092.2_Missense_Mutation_p.N162K|ATP8B3_ENST00000539485.1_Missense_Mutation_p.N215K|ATP8B3_ENST00000525591.1_Missense_Mutation_p.N162K	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	215					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGGTCTGTTGTTGATGGCTC	0.667																																																	0								G	LYS/ASN,LYS/ASN	1,4061		0,1,2030	39.0	47.0	44.0		486,645	2.9	1.0	19		44	0,8286		0,0,4143	no	missense,missense	ATP8B3	NM_001178002.1,NM_138813.2	94,94	0,1,6173	TT,TG,GG		0.0,0.0246,0.0081	probably-damaging,probably-damaging	162/1264,215/1301	1806659	1,12347	2031	4143	6174	SO:0001583	missense	0			AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.645C>A	19.37:g.1806659G>T	ENSP00000311336:p.Asn215Lys		Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.N215K	ENST00000310127.6	37	c.645	CCDS45901.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	16.92|16.92	3.256627|3.256627	0.59321|0.59321	2.46E-4|2.46E-4	0.0|0.0	ENSG00000130270|ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591;ENST00000526092;ENST00000382339|ENST00000533993	D;D;D;D|.	0.84146|.	-1.81;-1.81;-1.81;-1.81|.	4.08|4.08	2.94|2.94	0.34122|0.34122	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83788|0.83788	0.5330|0.5330	H|H	0.97365|0.97365	3.99|3.99	0.36592|0.36592	D|D	0.874149|0.874149	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.992;0.999;0.999|.	D|D	0.88598|0.88598	0.3148|0.3148	10|5	0.87932|.	D|.	0|.	.|.	9.3619|9.3619	0.38201|0.38201	0.162:0.0:0.838:0.0|0.162:0.0:0.838:0.0	.|.	162;215;162|.	F5H3R9;O60423;Q7Z485|.	.;AT8B3_HUMAN;.|.	K|K	215;215;162;162;162|178	ENSP00000311336:N215K;ENSP00000443574:N215K;ENSP00000437115:N162K;ENSP00000445204:N162K|.	ENSP00000311336:N215K|.	N|T	-|-	3|2	2|0	ATP8B3|ATP8B3	1757659|1757659	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.636000|0.636000	0.38137|0.38137	4.613000|4.613000	0.61176|0.61176	1.808000|1.808000	0.52836|0.52836	0.561000|0.561000	0.74099|0.74099	AAC|ACA	ATP8B3	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000130270		0.667	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	ATP8B3	HGNC	protein_coding	OTTHUMT00000388279.1		0.00	68	0	G	NM_138813		1806659	-1			no_errors	ENST00000539485	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T
BAI3	577	genome.wustl.edu	37	6	69653782	69653782	+	Missense_Mutation	SNP	G	G	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr6:69653782G>T	ENST00000370598.1	+	6	1912	c.1091G>T	c.(1090-1092)gGc>gTc	p.G364V		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	364	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGTGGTCGAGGCCAAAGAACA	0.443																																																	0													247.0	194.0	212.0					6																	69653782		2203	4300	6503	SO:0001583	missense	0			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1091G>T	6.37:g.69653782G>T	ENSP00000359630:p.Gly364Val		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.G364V	ENST00000370598.1	37	c.1091	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	G	28.6	4.936010	0.92458	.	.	ENSG00000135298	ENST00000370598	D	0.83755	-1.76	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.95341	0.8488	H	0.99619	4.66	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	D	0.97418	1.0007	10	0.87932	D	0	.	18.8518	0.92235	0.0:0.0:1.0:0.0	.	364	O60242	BAI3_HUMAN	V	364	ENSP00000359630:G364V	ENSP00000359630:G364V	G	+	2	0	BAI3	69710503	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.678000	0.91216	0.655000	0.94253	GGC	BAI3	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000135298		0.443	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1		0.00	56	0	G			69653782	+1			no_errors	ENST00000370598	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T
BEND4	389206	genome.wustl.edu	37	4	42145546	42145548	+	In_Frame_Del	DEL	TCC	TCC	-	rs371326280		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	TCC	TCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr4:42145546_42145548delTCC	ENST00000502486.1	-	3	1530_1532	c.951_953delGGA	c.(949-954)gaggac>gac	p.E317del	BEND4_ENST00000504360.1_In_Frame_Del_p.E313del	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	317										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						GCCTtcctcgtcctcctcctcct	0.517																																																	0									,	18,3784		0,18,1883					,	-4.7	0.4			49	39,7837		1,37,3900	no	coding,coding	BEND4	NM_207406.3,NM_001159547.1	,	1,55,5783	A1A1,A1R,RR		0.4952,0.4734,0.4881	,	,		57,11621				SO:0001651	inframe_deletion	0			AK092951	CCDS47048.1	4p13	2012-11-22	2008-10-03	2008-10-03	ENSG00000188848	ENSG00000188848		"""BEN domain containing"""	23815	protein-coding gene	gene with protein product			"""coiled-coil domain containing 4"""	CCDC4			Standard	NM_207406		Approved	FLJ35632, FLJ43965	uc003gwn.3	Q6ZU67	OTTHUMG00000160531	ENST00000502486.1:c.951_953delGGA	4.37:g.42145555_42145557delTCC	ENSP00000421169:p.Glu317del		A1A5D6|A1A5D7|C9JQZ5|Q58A26|Q58A27	In_Frame_Del	DEL	pfam_BEN_domain	p.E317in_frame_del	ENST00000502486.1	37	c.953_951	CCDS47048.1	4																																																																																			BEND4	-	NULL	ENSG00000188848		0.517	BEND4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND4	HGNC	protein_coding	OTTHUMT00000360975.2		0.00	45	0	TCC	NM_207406		42145548	-1	tier1		no_errors	ENST00000502486	ensembl	human	known	74_37	in_frame_del	6.90	27	2	DEL	1.000:1.000:1.000	-
Unknown	0	genome.wustl.edu	37	16	33489831	33489831	+	IGR	SNP	T	T	G			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr16:33489831T>G								RP11-23E10.4 (123018 upstream) : BMS1P8 (7331 downstream)																							CAAACTGGACTTCTGGTTTCT	0.522																																																	0																																										SO:0001628	intergenic_variant	0																															16.37:g.33489831T>G				RNA	SNP	-	NULL		37	NULL		16																																																																																			BMS1P8	-	-	ENSG00000260518	0	0.522					BMS1P8	HGNC			-	0.00	30	0	T			33489831	-1	tier1	-	no_errors	ENST00000567036	ensembl	human	known	74_37	rna	13.33	39	6	SNP	1.000	G
BOD1L1	259282	genome.wustl.edu	37	4	13603728	13603728	+	Missense_Mutation	SNP	C	C	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr4:13603728C>T	ENST00000040738.5	-	10	4931	c.4796G>A	c.(4795-4797)gGa>gAa	p.G1599E		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1599						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G1599E(1)									TTCAGCAAATCCCTCTGTGAC	0.498																																																	1	Substitution - Missense(1)	lung(1)											61.0	58.0	59.0					4																	13603728		2203	4300	6503	SO:0001583	missense	0			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.4796G>A	4.37:g.13603728C>T	ENSP00000040738:p.Gly1599Glu		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	NULL	p.G1599E	ENST00000040738.5	37	c.4796	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439789	0.63067	.	.	ENSG00000038219	ENST00000040738	T	0.31247	1.5	5.23	5.23	0.72850	.	0.000000	0.53938	D	0.000056	T	0.46405	0.1391	L	0.36672	1.1	0.46749	D	0.999186	D	0.89917	1.0	D	0.91635	0.999	T	0.28554	-1.0040	10	0.38643	T	0.18	-13.5113	16.9701	0.86296	0.0:1.0:0.0:0.0	.	1599	Q8NFC6	BOD1L_HUMAN	E	1599	ENSP00000040738:G1599E	ENSP00000040738:G1599E	G	-	2	0	BOD1L	13212826	0.999000	0.42202	0.970000	0.41538	0.535000	0.34838	4.770000	0.62309	2.429000	0.82318	0.650000	0.86243	GGA	BOD1L1	-	NULL	ENSG00000038219		0.498	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1		0.00	22	0	C	NM_148894		13603728	-1			no_errors	ENST00000040738	ensembl	human	known	74_37	missense	12.50	14	2	SNP	0.998	T
BRCA1	672	genome.wustl.edu	37	17	41223241	41223241	+	Frame_Shift_Del	DEL	G	G	-			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr17:41223241delG	ENST00000357654.3	-	15	4808	c.4690delC	c.(4690-4692)ctgfs	p.L1564fs	BRCA1_ENST00000491747.2_Frame_Shift_Del_p.L460fs|BRCA1_ENST00000591534.1_Frame_Shift_Del_p.L55fs|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000351666.3_Frame_Shift_Del_p.L381fs|BRCA1_ENST00000471181.2_Frame_Shift_Del_p.L1585fs|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Frame_Shift_Del_p.L1517fs|BRCA1_ENST00000309486.4_Frame_Shift_Del_p.L1268fs|BRCA1_ENST00000352993.3_Frame_Shift_Del_p.L422fs|BRCA1_ENST00000468300.1_Frame_Shift_Del_p.L460fs	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1564					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCAGATTCCAGGTAAGGGGTT	0.428			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																													yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	0													72.0	75.0	74.0					17																	41223241		2203	4300	6503	SO:0001589	frameshift_variant	0	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.4690delC	17.37:g.41223241delG	ENSP00000350283:p.Leu1564fs		O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Frame_Shift_Del	DEL	pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING	p.L1585fs	ENST00000357654.3	37	c.4753	CCDS11453.1	17																																																																																			BRCA1	-	pirsf_BRCA1	ENSG00000012048		0.428	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA1	HGNC	protein_coding	OTTHUMT00000348798.2		0.00	55	0	G	NM_007294		41223241	-1	tier1		no_errors	ENST00000471181	ensembl	human	known	74_37	frame_shift_del	9.52	19	2	DEL	0.104	-
C11orf21	29125	genome.wustl.edu	37	11	2321753	2321753	+	Missense_Mutation	SNP	G	G	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr11:2321753G>T	ENST00000381153.3	-	2	395	c.144C>A	c.(142-144)gaC>gaA	p.D48E	TSPAN32_ENST00000381121.3_5'Flank|TSPAN32_ENST00000451520.2_5'Flank|TSPAN32_ENST00000182290.4_5'Flank|C11orf21_ENST00000470369.1_Intron			Q9P2W6	CK021_HUMAN	chromosome 11 open reading frame 21	48						cytoplasm (GO:0005737)											GTCAGACCTGGTCTCTGGAGG	0.682																																																	0													16.0	18.0	18.0					11																	2321753		692	1590	2282	SO:0001583	missense	0			AB029488	CCDS44518.1	11p15.5	2012-08-09			ENSG00000110665	ENSG00000110665			13231	protein-coding gene	gene with protein product		611033				11054561	Standard	NM_001142946		Approved		uc009ydj.2	Q9P2W6	OTTHUMG00000009759	ENST00000381153.3:c.144C>A	11.37:g.2321753G>T	ENSP00000370545:p.Asp48Glu			Missense_Mutation	SNP	NULL	p.D94E	ENST00000381153.3	37	c.282		11	.	.	.	.	.	.	.	.	.	.	G	12.17	1.856455	0.32791	.	.	ENSG00000110665	ENST00000381153;ENST00000456145	.	.	.	1.57	-2.03	0.07365	.	.	.	.	.	T	0.09862	0.0242	N	0.08118	0	0.09310	N	1	D;D	0.55172	0.97;0.97	B;B	0.40602	0.334;0.334	T	0.14868	-1.0457	8	0.87932	D	0	.	1.9859	0.03436	0.383:0.0:0.3566:0.2604	.	94;48	E9PAM5;Q9P2W6	.;CK021_HUMAN	E	48;94	.	ENSP00000370545:D48E	D	-	3	2	C11orf21	2278329	0.000000	0.05858	0.000000	0.03702	0.504000	0.33889	-0.262000	0.08682	-0.649000	0.05430	0.205000	0.17691	GAC	C11orf21	-	NULL	ENSG00000110665		0.682	C11orf21-001	KNOWN	basic	protein_coding	C11orf21	HGNC	protein_coding	OTTHUMT00000026908.2		0.00	58	0	G	NM_001142946		2321753	-1			no_errors	ENST00000456145	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.000	T
C21orf2	755	genome.wustl.edu	37	21	45751827	45751828	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr21:45751827_45751828delCT	ENST00000339818.4	-	5	650_651	c.443_444delAG	c.(442-444)gagfs	p.E148fs	AP001062.7_ENST00000448927.1_RNA|AP001062.8_ENST00000422357.1_RNA|C21orf2_ENST00000496321.1_5'UTR|C21orf2_ENST00000325223.7_Frame_Shift_Del_p.E148fs|C21orf2_ENST00000397956.3_Frame_Shift_Del_p.E148fs	NM_001271440.1|NM_004928.2	NP_001258369.1|NP_004919.1	O43822	CU002_HUMAN	chromosome 21 open reading frame 2	148					cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				endometrium(2)	2				Colorectal(79;0.0806)		GGCCTGTGCCCTCTCTCTCTGG	0.634																																																	0																																										SO:0001589	frameshift_variant	0			Y11392	CCDS13709.1, CCDS59444.1, CCDS59445.1	21q22.3	2014-03-24			ENSG00000160226	ENSG00000160226			1260	protein-coding gene	gene with protein product	"""nuclear encoded mitochondrial protein"", ""leucine rich repeat containing 76"""	603191				9465297	Standard	NM_004928		Approved	YF5, A2, LRRC76	uc002zeq.2	O43822	OTTHUMG00000086909	ENST00000339818.4:c.443_444delAG	21.37:g.45751835_45751836delCT	ENSP00000344566:p.Glu148fs		A8MPS9|O14993|Q8N5X6|Q99837|Q99838	Frame_Shift_Del	DEL	smart_U2A'_phosphoprotein32A_C	p.E148fs	ENST00000339818.4	37	c.444_443	CCDS13709.1	21																																																																																			C21orf2	-	NULL	ENSG00000160226		0.634	C21orf2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C21orf2	HGNC	protein_coding	OTTHUMT00000195799.1		0.00	21	0	CT	NM_004928		45751828	-1	tier1		no_errors	ENST00000339818	ensembl	human	known	74_37	frame_shift_del	43.48	13	10	DEL	0.003:0.003	-
C4orf50	389197	genome.wustl.edu	37	4	5975443	5975444	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	GA	GA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr4:5975443_5975444delGA	ENST00000324058.5	-	4	439_440	c.350_351delTC	c.(349-351)ctcfs	p.L117fs	C4orf50_ENST00000531445.1_Frame_Shift_Del_p.L591fs			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	117										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						CCACGTCGTTGAGCATGTTCTG	0.624																																																	0																																										SO:0001589	frameshift_variant	0			BC140710		4p16.1	2009-04-14			ENSG00000181215	ENSG00000181215			33766	protein-coding gene	gene with protein product							Standard	XM_003119922		Approved	FLJ46481		Q6ZRC1	OTTHUMG00000149971	ENST00000324058.5:c.350_351delTC	4.37:g.5975443_5975444delGA	ENSP00000317287:p.Leu117fs			Frame_Shift_Del	DEL	NULL	p.L591fs	ENST00000324058.5	37	c.1773_1772		4																																																																																			C4orf50	-	NULL	ENSG00000181215		0.624	C4orf50-201	KNOWN	basic|appris_candidate	protein_coding	C4orf50	HGNC	protein_coding			0.00	30	0	GA	NM_207405		5975444	-1	tier1		no_errors	ENST00000531445	ensembl	human	known	74_37	frame_shift_del	5.13	37	2	DEL	0.001:0.023	-
C4orf17	84103	genome.wustl.edu	37	4	100443715	100443715	+	Missense_Mutation	SNP	G	G	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr4:100443715G>T	ENST00000326581.4	+	3	548	c.186G>T	c.(184-186)ttG>ttT	p.L62F	C4orf17_ENST00000503257.1_3'UTR|C4orf17_ENST00000514652.1_Missense_Mutation_p.L62F	NM_032149.2	NP_115525.2	Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	62										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		TTGGAACATTGTGGGGAGTTG	0.433																																																	0													176.0	153.0	161.0					4																	100443715		2203	4300	6503	SO:0001583	missense	0			AL136838	CCDS3649.1	4q23	2008-02-05			ENSG00000138813	ENSG00000138813			25274	protein-coding gene	gene with protein product						11230166	Standard	NM_032149		Approved	DKFZP434G072	uc003huw.3	Q53FE4	OTTHUMG00000131027	ENST00000326581.4:c.186G>T	4.37:g.100443715G>T	ENSP00000322582:p.Leu62Phe		Q6FI84|Q6IS77|Q8NA78|Q9H0D9	Missense_Mutation	SNP	NULL	p.L62F	ENST00000326581.4	37	c.186	CCDS3649.1	4	.	.	.	.	.	.	.	.	.	.	G	9.727	1.161156	0.21538	.	.	ENSG00000138813	ENST00000326581;ENST00000514652	T;T	0.21734	2.0;1.99	5.18	2.33	0.28932	.	0.437693	0.16586	N	0.207991	T	0.21674	0.0522	M	0.73962	2.25	0.09310	N	1	B	0.17852	0.024	B	0.22601	0.04	T	0.21827	-1.0234	10	0.41790	T	0.15	2.8103	4.0266	0.09690	0.095:0.1904:0.5724:0.1422	.	62	Q53FE4	CD017_HUMAN	F	62	ENSP00000322582:L62F;ENSP00000427663:L62F	ENSP00000322582:L62F	L	+	3	2	C4orf17	100662738	0.001000	0.12720	0.007000	0.13788	0.001000	0.01503	0.153000	0.16323	0.767000	0.33267	-0.238000	0.12139	TTG	C4orf17	-	NULL	ENSG00000138813		0.433	C4orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4orf17	HGNC	protein_coding	OTTHUMT00000253670.2	-	0.00	57	0	G	NM_032149		100443715	+1	tier1	-	no_errors	ENST00000326581	ensembl	human	known	74_37	missense	5.88	80	5	SNP	0.004	T
CABIN1	23523	genome.wustl.edu	37	22	24460579	24460579	+	Missense_Mutation	SNP	G	G	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr22:24460579G>T	ENST00000398319.2	+	15	2351	c.1966G>T	c.(1966-1968)Ggg>Tgg	p.G656W	CABIN1_ENST00000263119.5_Missense_Mutation_p.G656W|CABIN1_ENST00000405822.2_Missense_Mutation_p.G606W	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	656					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GGTGGAGGCAGGGGCTGAACG	0.517																																																	0													204.0	181.0	189.0					22																	24460579		2203	4300	6503	SO:0001583	missense	0			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.1966G>T	22.37:g.24460579G>T	ENSP00000381364:p.Gly656Trp		G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G656W	ENST00000398319.2	37	c.1966	CCDS13823.1	22	.	.	.	.	.	.	.	.	.	.	G	12.10	1.835742	0.32421	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.64803	0.09;-0.12;0.09	5.71	5.71	0.89125	.	0.501056	0.23815	N	0.044294	T	0.67702	0.2921	L	0.40543	1.245	0.42111	D	0.991387	D;D	0.67145	0.996;0.993	P;P	0.61874	0.895;0.787	T	0.69128	-0.5227	10	0.72032	D	0.01	.	10.7144	0.46005	0.1451:0.0:0.8549:0.0	.	606;656	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	W	656;606;656	ENSP00000263119:G656W;ENSP00000384694:G606W;ENSP00000381364:G656W	ENSP00000263119:G656W	G	+	1	0	CABIN1	22790579	0.357000	0.24938	0.030000	0.17652	0.044000	0.14063	3.643000	0.54374	2.880000	0.98712	0.650000	0.86243	GGG	CABIN1	-	NULL	ENSG00000099991		0.517	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABIN1	HGNC	protein_coding	OTTHUMT00000320161.2		0.00	37	0	G	NM_012295		24460579	+1			no_errors	ENST00000263119	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.038	T
CACNA1D	776	genome.wustl.edu	37	3	53804502	53804502	+	Missense_Mutation	SNP	G	G	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr3:53804502G>T	ENST00000350061.5	+	32	4478	c.3967G>T	c.(3967-3969)Gtg>Ttg	p.V1323L	CACNA1D_ENST00000422281.2_Missense_Mutation_p.V1308L|CACNA1D_ENST00000288139.4_Missense_Mutation_p.V1343L|CACNA1D_ENST00000540742.1_Missense_Mutation_p.V215L	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1323					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCTTTTCCGAGTGATGCGATT	0.468																																																	0													114.0	113.0	113.0					3																	53804502		2203	4300	6503	SO:0001583	missense	0			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.3967G>T	3.37:g.53804502G>T	ENSP00000288133:p.Val1323Leu		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu	p.V1343L	ENST00000350061.5	37	c.4027	CCDS46848.1	3	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006377	0.93287	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000540742	D;D;D;D;D	0.98602	-5.02;-5.02;-5.02;-5.02;-5.02	5.66	5.66	0.87406	Ion transport (1);	0.064970	0.64402	D	0.000011	D	0.98686	0.9559	L	0.58969	1.84	0.80722	D	1	D;B;D;B;D	0.89917	1.0;0.191;0.999;0.306;0.999	D;B;D;P;D	0.91635	0.999;0.203;0.976;0.486;0.995	D	0.99897	1.1149	10	0.87932	D	0	.	19.76	0.96311	0.0:0.0:1.0:0.0	.	1308;215;1016;1323;1343	B0FYA3;F5H313;Q59GD8;Q01668;Q01668-2	.;.;.;CAC1D_HUMAN;.	L	1323;1343;1308;1016;215	ENSP00000288133:V1323L;ENSP00000288139:V1343L;ENSP00000409174:V1308L;ENSP00000418014:V1016L;ENSP00000438229:V215L	ENSP00000288139:V1343L	V	+	1	0	CACNA1D	53779542	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.666000	0.90696	0.655000	0.94253	GTG	CACNA1D	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000157388		0.468	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1D	HGNC	protein_coding	OTTHUMT00000350557.1	-	0.00	38	0	G	NM_000720		53804502	+1	tier1	-	no_errors	ENST00000288139	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T
CALD1	800	genome.wustl.edu	37	7	134653465	134653465	+	3'UTR	SNP	G	G	A	rs539250778		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr7:134653465G>A	ENST00000361675.2	+	0	2980				CALD1_ENST00000424922.1_3'UTR|CALD1_ENST00000422748.1_3'UTR|CALD1_ENST00000361901.2_3'UTR|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000361388.2_3'UTR|CALD1_ENST00000495522.1_3'UTR|CALD1_ENST00000393118.2_3'UTR			Q05682	CALD1_HUMAN	caldesmon 1						cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						AAAATGAACCGTAGTTTTTGT	0.338													G|||	1	0.000199681	0.0	0.0	5008	,	,		17503	0.0		0.0	False		,,,				2504	0.001																0																																										SO:0001624	3_prime_UTR_variant	0			M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.*369G>A	7.37:g.134653465G>A			A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	RNA	SNP	-	NULL	ENST00000361675.2	37	NULL	CCDS5835.1	7																																																																																			CALD1	-	-	ENSG00000122786		0.338	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	CALD1	HGNC	protein_coding	OTTHUMT00000339939.1	-	0.00	40	0	G	NM_033138		134653465	+1	tier1	-	no_errors	ENST00000466704	ensembl	human	known	74_37	rna	48.08	27	25	SNP	0.000	A
CARD8	22900	genome.wustl.edu	37	19	48735737	48735737	+	Intron	SNP	G	G	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr19:48735737G>T	ENST00000359009.4	-	4	389				ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000391898.3_Missense_Mutation_p.Q122K|CARD8_ENST00000520015.1_Missense_Mutation_p.Q122K|CARD8_ENST00000521613.1_Missense_Mutation_p.Q72K|CARD8_ENST00000447740.2_Missense_Mutation_p.Q72K|CARD8_ENST00000520153.1_Missense_Mutation_p.Q72K|CARD8_ENST00000520753.1_Missense_Mutation_p.Q122K|CARD8_ENST00000519940.1_Missense_Mutation_p.Q122K|CARD8_ENST00000357778.5_Intron			Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)|NLRP3 inflammasome complex (GO:0072559)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|NACHT domain binding (GO:0032089)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		GAAGATTCCTGCTCTTCTGAT	0.403																																																	0																																										SO:0001627	intron_variant	0			AB023172	CCDS12712.1, CCDS12712.2, CCDS54287.1, CCDS54288.1, CCDS54289.1	19q13.33	2011-05-24			ENSG00000105483	ENSG00000105483			17057	protein-coding gene	gene with protein product		609051				10231032, 11408476	Standard	NM_001184900		Approved	TUCAN, KIAA0955, CARDINAL, NDPP, Dakar	uc010xzj.2	Q9Y2G2	OTTHUMG00000165047	ENST00000359009.4:c.77-670C>A	19.37:g.48735737G>T			B5KVR6|B7Z496|B7Z4A2|E9PEM7|G3XAM9|Q6PGP8|Q96P82	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD	p.Q122K	ENST00000359009.4	37	c.364		19	.	.	.	.	.	.	.	.	.	.	G	6.436	0.448654	0.12223	.	.	ENSG00000105483	ENST00000447740;ENST00000391898;ENST00000520753;ENST00000520153;ENST00000520015;ENST00000521613;ENST00000519940	T;T;T;T;T;T;T	0.15017	2.74;2.7;2.46;2.74;2.46;2.74;2.7	1.63	-0.91	0.10511	.	.	.	.	.	T	0.05640	0.0148	N	0.08118	0	0.09310	N	1	B;B;B	0.23540	0.027;0.087;0.016	B;B;B	0.15870	0.002;0.014;0.003	T	0.40794	-0.9544	9	0.07482	T	0.82	.	3.6679	0.08262	0.0:0.2792:0.437:0.2838	.	122;122;72	E9PEM7;Q9Y2G2-3;G3XAM9	.;.;.	K	72;122;122;72;122;72;122	ENSP00000391248:Q72K;ENSP00000375767:Q122K;ENSP00000429839:Q122K;ENSP00000428736:Q72K;ENSP00000430747:Q122K;ENSP00000427858:Q72K;ENSP00000428883:Q122K	ENSP00000375767:Q122K	Q	-	1	0	CARD8	53427549	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.048000	0.11944	-0.161000	0.10983	-0.282000	0.10007	CAG	CARD8	-	NULL	ENSG00000105483		0.403	CARD8-202	KNOWN	basic|appris_candidate	protein_coding	CARD8	HGNC	protein_coding		-	0.00	66	0	G	NM_014959		48735737	-1	tier1	-	no_errors	ENST00000391898	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.000	T
CC2D2A	57545	genome.wustl.edu	37	4	15480941	15480941	+	Intron	SNP	A	A	G			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr4:15480941A>G	ENST00000503292.1	+	4	303				CC2D2A_ENST00000513811.1_Intron|CC2D2A_ENST00000413206.1_Intron|CC2D2A_ENST00000389652.5_5'UTR|CC2D2A_ENST00000511544.1_Missense_Mutation_p.K73R|CC2D2A_ENST00000515124.1_Intron|CC2D2A_ENST00000424120.1_Intron|CC2D2A_ENST00000503658.1_Missense_Mutation_p.K73R|CC2D2A_ENST00000507954.1_Intron|CC2D2A_ENST00000438599.2_Missense_Mutation_p.K73R	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A						cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						GTGCAGGGTAAATCTTTTCAA	0.552											OREG0016121	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													82.0	82.0	82.0					4																	15480941		692	1591	2283	SO:0001627	intron_variant	0			AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.123+511A>G	4.37:g.15480941A>G		703	A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	NULL	p.K73R	ENST00000503292.1	37	c.218	CCDS47026.1	4	.	.	.	.	.	.	.	.	.	.	A	14.90	2.672299	0.47781	.	.	ENSG00000048342	ENST00000438599;ENST00000511544;ENST00000503658	T;T;T	0.69561	-0.41;-0.41;-0.41	4.36	-3.22	0.05125	.	.	.	.	.	T	0.39886	0.1095	N	0.08118	0	0.09310	N	1	B;B	0.20052	0.041;0.021	B;B	0.18871	0.023;0.008	T	0.18493	-1.0335	9	0.42905	T	0.14	.	6.0459	0.19760	0.3328:0.4828:0.1844:0.0	.	34;73	Q8WVL8;E7EP21	.;.	R	73	ENSP00000401154:K73R;ENSP00000426109:K73R;ENSP00000426846:K73R	ENSP00000401154:K73R	K	+	2	0	CC2D2A	15090039	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.093000	0.11111	-0.638000	0.05509	-0.491000	0.04670	AAA	CC2D2A	-	NULL	ENSG00000048342		0.552	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CC2D2A	HGNC	protein_coding	OTTHUMT00000359906.2	-	0.00	30	0	A	NM_001080522		15480941	+1	tier1	-	no_errors	ENST00000438599	ensembl	human	known	74_37	missense	26.19	31	11	SNP	0.000	G
CCDC175	729665	genome.wustl.edu	37	14	60039431	60039431	+	Missense_Mutation	SNP	C	C	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr14:60039431C>T	ENST00000537690.2	-	3	399	c.344G>A	c.(343-345)aGg>aAg	p.R115K	CCDC175_ENST00000281581.4_Missense_Mutation_p.R115K	NM_001164399.1	NP_001157871.1	P0C221	CC175_HUMAN	coiled-coil domain containing 175	115																	TTCCAATTCCCTCTTAATGCT	0.328																																																	0													205.0	173.0	183.0					14																	60039431		692	1590	2282	SO:0001583	missense	0				CCDS53898.1	14q23.1	2012-09-24	2012-09-24	2012-09-24	ENSG00000151838	ENSG00000151838			19847	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 38"""	C14orf38			Standard	NM_001164399		Approved		uc021rtw.1	P0C221		ENST00000537690.2:c.344G>A	14.37:g.60039431C>T	ENSP00000453940:p.Arg115Lys		G3V5J7	Missense_Mutation	SNP	superfamily_Prefoldin	p.R115K	ENST00000537690.2	37	c.344	CCDS53898.1	14	.	.	.	.	.	.	.	.	.	.	C	2.194	-0.384482	0.04966	.	.	ENSG00000151838	ENST00000555041	.	.	.	5.82	-11.6	0.00059	.	1.741450	0.02536	N	0.094172	T	0.19127	0.0459	L	0.34521	1.04	0.09310	N	1	.	.	.	.	.	.	T	0.14727	-1.0462	6	.	.	.	3.0518	0.8634	0.01198	0.2411:0.1296:0.258:0.3713	.	.	.	.	K	115	.	.	R	-	2	0	C14orf38	59109184	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.079000	0.00614	-2.976000	0.00284	-0.897000	0.02905	AGG	CCDC175	-	NULL	ENSG00000151838		0.328	CCDC175-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC175	HGNC	protein_coding	OTTHUMT00000471273.1	-	0.00	52	0	C	NM_001164399		60039431	-1	tier1	-	no_errors	ENST00000281581	ensembl	human	known	74_37	missense	38.30	58	36	SNP	0.000	T
CCDC87	55231	genome.wustl.edu	37	11	66359702	66359702	+	Frame_Shift_Del	DEL	T	T	-			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr11:66359702delT	ENST00000333861.3	-	1	852	c.785delA	c.(784-786)aagfs	p.K262fs	CCS_ENST00000533244.1_5'Flank|CCS_ENST00000310190.4_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	262					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GTGGAAAGGCTTTTTCCTCTT	0.527																																																	0													70.0	62.0	65.0					11																	66359702		2200	4295	6495	SO:0001589	frameshift_variant	0			BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.785delA	11.37:g.66359702delT	ENSP00000328487:p.Lys262fs		Q8NE76	Frame_Shift_Del	DEL	pfam_MAP65_Ase1_PRC1	p.K262fs	ENST00000333861.3	37	c.785	CCDS8145.1	11																																																																																			CCDC87	-	NULL	ENSG00000182791		0.527	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC87	HGNC	protein_coding	OTTHUMT00000393825.1		0.00	32	0	T	NM_018219		66359702	-1	tier1		no_errors	ENST00000333861	ensembl	human	known	74_37	frame_shift_del	5.88	32	2	DEL	0.002	-
CCNA1	8900	genome.wustl.edu	37	13	37014283	37014283	+	Missense_Mutation	SNP	G	G	A	rs267603812		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr13:37014283G>A	ENST00000255465.4	+	6	1325	c.1061G>A	c.(1060-1062)cGa>cAa	p.R354Q	CCNA1_ENST00000449823.1_Missense_Mutation_p.R310Q|CCNA1_ENST00000418263.1_Missense_Mutation_p.R353Q|CCNA1_ENST00000440264.1_Missense_Mutation_p.R310Q			P78396	CCNA1_HUMAN	cyclin A1	354					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TACTTGAGGCGACAAGGAGTG	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		18248	0.0		0.001	False		,,,				2504	0.0																0													146.0	144.0	145.0					13																	37014283		2203	4300	6503	SO:0001583	missense	0			U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.1061G>A	13.37:g.37014283G>A	ENSP00000255465:p.Arg354Gln		B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.R354Q	ENST00000255465.4	37	c.1061	CCDS9357.1	13	.	.	.	.	.	.	.	.	.	.	G	7.832	0.720121	0.15372	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	6.03	2.97	0.34412	Cyclin, C-terminal (1);Cyclin-like (3);	0.313817	0.41605	D	0.000846	T	0.19327	0.0464	L	0.55743	1.74	0.09310	N	1	B;B	0.30686	0.246;0.29	B;B	0.32805	0.094;0.153	T	0.18618	-1.0331	10	0.11182	T	0.66	.	12.4257	0.55544	0.2111:0.0:0.7889:0.0	.	353;354	P78396-2;P78396	.;CCNA1_HUMAN	Q	310;310;353;354	ENSP00000400666:R310Q;ENSP00000409873:R310Q;ENSP00000396479:R353Q;ENSP00000255465:R354Q	ENSP00000255465:R354Q	R	+	2	0	CCNA1	35912283	0.013000	0.17824	0.009000	0.14445	0.726000	0.41606	1.694000	0.37752	0.890000	0.36211	0.555000	0.69702	CGA	CCNA1	-	pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	ENSG00000133101		0.458	CCNA1-001	KNOWN	basic|CCDS	protein_coding	CCNA1	HGNC	protein_coding	OTTHUMT00000044514.2	-	0.00	74	0	G	NM_003914		37014283	+1	tier1	-	no_errors	ENST00000255465	ensembl	human	known	74_37	missense	26.76	52	19	SNP	0.000	A
CD163	9332	genome.wustl.edu	37	12	7640477	7640477	+	Missense_Mutation	SNP	C	C	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr12:7640477C>T	ENST00000359156.4	-	7	1829	c.1627G>A	c.(1627-1629)Gaa>Aaa	p.E543K	CD163_ENST00000432237.2_Missense_Mutation_p.E543K|CD163_ENST00000396620.3_Missense_Mutation_p.E543K|CD163_ENST00000541972.1_Missense_Mutation_p.E531K|CD163_ENST00000539632.1_5'Flank	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	543	SRCR 5. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	TGGAATTCTTCAGCCCAGATC	0.537																																																	0													102.0	90.0	94.0					12																	7640477		2203	4300	6503	SO:0001583	missense	0			Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1627G>A	12.37:g.7640477C>T	ENSP00000352071:p.Glu543Lys		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR	p.E543K	ENST00000359156.4	37	c.1627	CCDS8578.1	12	.	.	.	.	.	.	.	.	.	.	C	25.3	4.621582	0.87460	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	5.33	4.42	0.53409	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.460667	0.22616	N	0.057764	T	0.48040	0.1478	L	0.58810	1.83	0.42729	D	0.993708	P;P;P	0.52692	0.955;0.782;0.906	P;B;P	0.55577	0.779;0.255;0.714	T	0.42241	-0.9463	10	0.48119	T	0.1	.	12.6578	0.56797	0.0:0.9138:0.0:0.0862	.	543;543;543	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	K	543;531;543;543	ENSP00000352071:E543K;ENSP00000444071:E531K;ENSP00000379863:E543K;ENSP00000403885:E543K	ENSP00000352071:E543K	E	-	1	0	CD163	7531744	0.903000	0.30736	1.000000	0.80357	0.986000	0.74619	3.079000	0.50104	2.663000	0.90544	0.655000	0.94253	GAA	CD163	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR	ENSG00000177575		0.537	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD163	HGNC	protein_coding	OTTHUMT00000399396.2	-	0.00	42	0	C	NM_004244, NM_203416		7640477	-1	tier1	-	no_errors	ENST00000359156	ensembl	human	known	74_37	missense	38.71	18	12	SNP	1.000	T
CDH1	999	genome.wustl.edu	37	16	68849430	68849430	+	Nonsense_Mutation	SNP	G	G	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr16:68849430G>T	ENST00000261769.5	+	10	1524	c.1333G>T	c.(1333-1335)Gag>Tag	p.E445*	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Nonsense_Mutation_p.E384*|RP11-354M1.2_ENST00000563916.1_RNA	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	445	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.G441_E463del(1)|p.L442fs*18(1)|p.?(1)|p.E445Q(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CTTGGATTTTGAGGCCAAGCA	0.418			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																														yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	4	Substitution - Missense(1)|Unknown(1)|Deletion - In frame(1)|Deletion - Frameshift(1)	breast(2)|lung(1)|stomach(1)											113.0	95.0	101.0					16																	68849430		2198	4300	6498	SO:0001587	stop_gained	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1333G>T	16.37:g.68849430G>T	ENSP00000261769:p.Glu445*		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E445*	ENST00000261769.5	37	c.1333	CCDS10869.1	16	.	.	.	.	.	.	.	.	.	.	G	38	6.939905	0.97948	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	.	.	.	5.7	5.7	0.88788	.	0.000000	0.51477	D	0.000093	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.433	0.94779	0.0:0.0:1.0:0.0	.	.	.	.	X	445;463;445;384	.	ENSP00000261769:E445X	E	+	1	0	CDH1	67406931	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.549000	0.82163	2.694000	0.91930	0.555000	0.69702	GAG	CDH1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000039068		0.418	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	-	0.00	69	0	G	NM_004360		68849430	+1	tier1	-	no_errors	ENST00000261769	ensembl	human	known	74_37	nonsense	5.71	66	4	SNP	1.000	T
CDS1	1040	genome.wustl.edu	37	4	85556475	85556475	+	Frame_Shift_Del	DEL	T	T	-			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr4:85556475delT	ENST00000295887.5	+	8	1204	c.781delT	c.(781-783)tttfs	p.F263fs		NM_001263.3	NP_001254.2	O96017	CHK2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		CCTTTTTGGATTTTTTTTTGG	0.308																																																	0													114.0	121.0	118.0					4																	85556475		2203	4300	6503	SO:0001589	frameshift_variant	0			U65887	CCDS3608.1	4q21	2008-02-05			ENSG00000163624	ENSG00000163624	2.7.7.41		1800	protein-coding gene	gene with protein product		603548				9806839, 9115637	Standard	NM_001263		Approved		uc011ccv.2	Q92903	OTTHUMG00000130428	ENST00000295887.5:c.781delT	4.37:g.85556475delT	ENSP00000295887:p.Phe263fs		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Frame_Shift_Del	DEL	pfam_PC_trans,pirsf_PC_Trfase_euk	p.F263fs	ENST00000295887.5	37	c.781	CCDS3608.1	4																																																																																			CDS1	-	pfam_PC_trans,pirsf_PC_Trfase_euk	ENSG00000163624		0.308	CDS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDS1	HGNC	protein_coding	OTTHUMT00000252817.2		0.00	47	0	T			85556475	+1			no_errors	ENST00000295887	ensembl	human	known	74_37	frame_shift_del	8.54	75	7	DEL	1.000	0
CHD2	1106	genome.wustl.edu	37	15	93563494	93563494	+	Intron	SNP	C	C	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr15:93563494C>T	ENST00000394196.4	+	38	6221				CHD2_ENST00000557381.1_Missense_Mutation_p.A1720V	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2						cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GACAGGTATGCAAAAGGCTGT	0.458																																																	0													61.0	55.0	57.0					15																	93563494		2197	4298	6495	SO:0001627	intron_variant	0			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.5153+6C>T	15.37:g.93563494C>T			C6G482|Q96IP5	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.A1720V	ENST00000394196.4	37	c.5159	CCDS10374.2	15	.	.	.	.	.	.	.	.	.	.	C	16.91	3.252944	0.59212	.	.	ENSG00000173575	ENST00000557381	D	0.89617	-2.54	3.65	-1.85	0.07784	.	.	.	.	.	T	0.77418	0.4127	.	.	.	0.80722	D	1	B	0.10296	0.003	B	0.10450	0.005	T	0.57883	-0.7734	7	.	.	.	.	5.5014	0.16831	0.0:0.362:0.1428:0.4952	.	1720	O14647-2	.	V	1720	ENSP00000451366:A1720V	.	A	+	2	0	CHD2	91364498	0.001000	0.12720	0.014000	0.15608	0.831000	0.47069	-0.435000	0.06931	-0.337000	0.08426	0.561000	0.74099	GCA	CHD2	-	NULL	ENSG00000173575		0.458	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CHD2	HGNC	protein_coding	OTTHUMT00000313528.3		0.00	17	0	C	NM_001271		93563494	+1			no_errors	ENST00000557381	ensembl	human	putative	74_37	missense	14.29	24	4	SNP	0.619	T
CHRM2	1129	genome.wustl.edu	37	7	136700655	136700655	+	Missense_Mutation	SNP	G	G	C			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr7:136700655G>C	ENST00000445907.2	+	3	1571	c.1043G>C	c.(1042-1044)gGg>gCg	p.G348A	CHRM2_ENST00000402486.3_Missense_Mutation_p.G348A|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.G348A|CHRM2_ENST00000320658.5_Missense_Mutation_p.G348A|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.G348A|CHRM2_ENST00000401861.1_Missense_Mutation_p.G348A|hsa-mir-490_ENST00000592183.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	348					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GAGGTAGTGGGGTCTTCAGGT	0.468																																																	0													83.0	83.0	83.0					7																	136700655		2203	4300	6503	SO:0001583	missense	0				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.1043G>C	7.37:g.136700655G>C	ENSP00000399745:p.Gly348Ala		Q4VBK6|Q9P1X9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn	p.G348A	ENST00000445907.2	37	c.1043	CCDS5843.1	7	.	.	.	.	.	.	.	.	.	.	G	0.892	-0.725127	0.03158	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13;0.13	5.4	4.5	0.54988	GPCR, rhodopsin-like superfamily (1);	0.313933	0.33792	N	0.004558	T	0.41994	0.1183	N	0.22421	0.69	0.44395	D	0.997308	B	0.02656	0.0	B	0.06405	0.002	T	0.26643	-1.0097	10	0.09590	T	0.72	-16.1854	16.0564	0.80809	0.0:0.1344:0.8656:0.0	.	348	P08172	ACM2_HUMAN	A	348	ENSP00000399745:G348A;ENSP00000415386:G348A;ENSP00000319984:G348A;ENSP00000380733:G348A;ENSP00000384937:G348A;ENSP00000384401:G348A	ENSP00000319984:G348A	G	+	2	0	CHRM2	136351195	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	3.932000	0.56537	1.263000	0.44181	0.655000	0.94253	GGG	CHRM2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt	ENSG00000181072		0.468	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM2	HGNC	protein_coding	OTTHUMT00000341010.1	-	0.00	58	0	G			136700655	+1	tier1	-	no_errors	ENST00000320658	ensembl	human	known	74_37	missense	24.59	46	15	SNP	0.999	C
CHST4	10164	genome.wustl.edu	37	16	71571633	71571633	+	Silent	SNP	C	C	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr16:71571633C>T	ENST00000338482.5	+	3	1396	c.1053C>T	c.(1051-1053)ggC>ggT	p.G351G	CHST4_ENST00000539698.3_Silent_p.G351G|CHST4_ENST00000572450.1_Silent_p.G351G|ZNF19_ENST00000568446.1_Intron|RP11-510M2.5_ENST00000568523.1_RNA			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	351					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte tethering or rolling (GO:0050901)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|sulfur compound metabolic process (GO:0006790)	integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						AAGCCTGTGGCGATGCCATGA	0.512											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													61.0	58.0	59.0					16																	71571633		2198	4300	6498	SO:0001819	synonymous_variant	0			AF131235	CCDS10902.1	16q22.2	2008-02-05			ENSG00000140835	ENSG00000140835		"""Sulfotransferases, membrane-bound"""	1972	protein-coding gene	gene with protein product						10330415	Standard	NM_001166395		Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	Q8NCG5	OTTHUMG00000137592	ENST00000338482.5:c.1053C>T	16.37:g.71571633C>T		1131	Q8IV46|Q9Y5R3	Silent	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	p.G351	ENST00000338482.5	37	c.1053	CCDS10902.1	16																																																																																			CHST4	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	ENSG00000140835		0.512	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST4	HGNC	protein_coding	OTTHUMT00000268992.4		0.00	26	0	C	NM_005769		71571633	+1			no_errors	ENST00000338482	ensembl	human	known	74_37	silent	9.76	37	4	SNP	0.000	T
CLEC3A	10143	genome.wustl.edu	37	16	78062018	78062018	+	Missense_Mutation	SNP	C	C	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr16:78062018C>A	ENST00000575655.1	+	2	211	c.130C>A	c.(130-132)Ctg>Atg	p.L44M	CLEC3A_ENST00000299642.4_Missense_Mutation_p.L53M|RP11-281J9.2_ENST00000563114.1_RNA	NM_005752.4	NP_005743.4	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	44					skeletal system development (GO:0001501)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						GGATGGAGATCTGAAGACTCA	0.443																																																	0													90.0	88.0	88.0					16																	78062018		2198	4300	6498	SO:0001583	missense	0			AF077345	CCDS10927.1, CCDS10927.2	16q23	2008-02-05	2005-02-09	2005-02-11	ENSG00000166509	ENSG00000166509		"""C-type lectin domain containing"""	2052	protein-coding gene	gene with protein product		613588	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 1 (cartilage-derived)"""	CLECSF1		10524194	Standard	NM_001244755		Approved		uc002ffh.5	O75596	OTTHUMG00000137620	ENST00000575655.1:c.130C>A	16.37:g.78062018C>A	ENSP00000460682:p.Leu44Met		B2R8C4|Q3SX91|Q6UXF5	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.L53M	ENST00000575655.1	37	c.157		16	.	.	.	.	.	.	.	.	.	.	C	18.27	3.585960	0.66105	.	.	ENSG00000166509	ENST00000299642	.	.	.	5.84	5.84	0.93424	.	0.125013	0.56097	D	0.000037	T	0.57636	0.2067	L	0.43923	1.385	0.47009	D	0.999288	P	0.47350	0.894	B	0.43950	0.437	T	0.59150	-0.7508	9	0.52906	T	0.07	-7.862	19.7382	0.96215	0.0:1.0:0.0:0.0	.	44	O75596	CLC3A_HUMAN	M	44	.	ENSP00000299642:L44M	L	+	1	2	CLEC3A	76619519	0.996000	0.38824	1.000000	0.80357	0.799000	0.45148	3.008000	0.49544	2.769000	0.95229	0.561000	0.74099	CTG	CLEC3A	-	NULL	ENSG00000166509		0.443	CLEC3A-201	KNOWN	basic|appris_principal	protein_coding	CLEC3A	HGNC	protein_coding		-	0.00	69	0	C	NM_005752		78062018	+1	tier1	-	no_errors	ENST00000299642	ensembl	human	known	74_37	missense	28.57	45	18	SNP	1.000	A
COA1	55744	genome.wustl.edu	37	7	43678967	43678967	+	3'UTR	SNP	G	G	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr7:43678967G>A	ENST00000395879.1	-	0	2336				COA1_ENST00000223336.6_3'UTR|COA1_ENST00000310564.6_3'UTR|COA1_ENST00000488813.1_5'UTR|COA1_ENST00000395880.3_3'UTR			Q9GZY4	COA1_HUMAN	cytochrome c oxidase assembly factor 1 homolog (S. cerevisiae)						mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex IV assembly (GO:0033617)	cytoplasm (GO:0005737)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrion (GO:0005739)											AGTTTCTTTCGGATTCAGTTT	0.313																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK001665	CCDS5471.1	7p13	2012-12-05	2012-10-15	2012-06-25	ENSG00000106603	ENSG00000106603		"""Mitochondrial respiratory chain complex assembly factors"""	21868	protein-coding gene	gene with protein product		614769	"""chromosome 7 open reading frame 44"""	C7orf44		22356826	Standard	NM_018224		Approved	FLJ10803, MITRAC15	uc003tin.2	Q9GZY4	OTTHUMG00000128949	ENST00000395879.1:c.*214C>T	7.37:g.43678967G>A			A6NJU8|A8KAH8|Q9HAB7|Q9NVD2	RNA	SNP	-	NULL	ENST00000395879.1	37	NULL	CCDS5471.1	7																																																																																			COA1	-	-	ENSG00000106603		0.313	COA1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	COA1	HGNC	protein_coding	OTTHUMT00000313664.1	-	0.00	10	0	G	NM_018224		43678967	-1	tier1	-	no_errors	ENST00000488813	ensembl	human	known	74_37	rna	62.50	3	5	SNP	0.000	A
COL6A2	1292	genome.wustl.edu	37	21	47544826	47544826	+	Missense_Mutation	SNP	G	G	A	rs139488626		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr21:47544826G>A	ENST00000300527.4	+	23	1866	c.1762G>A	c.(1762-1764)Ggt>Agt	p.G588S	COL6A2_ENST00000357838.4_Missense_Mutation_p.G588S|COL6A2_ENST00000397763.1_Missense_Mutation_p.G588S|COL6A2_ENST00000310645.5_Missense_Mutation_p.G588S|COL6A2_ENST00000409416.1_Missense_Mutation_p.G588S	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	588	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TGGAGACCCCGGTCTCACGGT	0.647													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17711	0.0		0.0	False		,,,				2504	0.0																0								G	SER/GLY,SER/GLY,SER/GLY	3,4403	4.2+/-10.8	0,3,2200	46.0	45.0	45.0		1762,1762,1762	4.1	1.0	21	dbSNP_134	45	0,8596		0,0,4298	no	missense,missense,missense	COL6A2	NM_001849.3,NM_058174.2,NM_058175.2	56,56,56	0,3,6498	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging,probably-damaging,probably-damaging	588/1020,588/919,588/829	47544826	3,12999	2203	4298	6501	SO:0001583	missense	0			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.1762G>A	21.37:g.47544826G>A	ENSP00000300527:p.Gly588Ser		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.G588S	ENST00000300527.4	37	c.1762	CCDS13728.1	21	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043218	0.75732	6.81E-4	0.0	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763;ENST00000413758	D;D;D;D;D;D	0.99607	-6.27;-6.27;-6.27;-6.27;-6.27;-6.27	4.12	4.12	0.48240	.	0.000000	0.85682	D	0.000000	D	0.99654	0.9872	M	0.92555	3.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.99939	1.1392	10	0.24483	T	0.36	-21.7717	16.3666	0.83331	0.0:0.0:1.0:0.0	.	588;588;588	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	S	588;588;588;588;588;129	ENSP00000300527:G588S;ENSP00000350497:G588S;ENSP00000312529:G588S;ENSP00000387115:G588S;ENSP00000380870:G588S;ENSP00000395751:G129S	ENSP00000300527:G588S	G	+	1	0	COL6A2	46369254	1.000000	0.71417	1.000000	0.80357	0.452000	0.32318	7.647000	0.83462	1.856000	0.53863	0.591000	0.81541	GGT	COL6A2	-	NULL	ENSG00000142173		0.647	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A2	HGNC	protein_coding	OTTHUMT00000206971.1	-	0.00	51	0	G			47544826	+1	tier1	rs139488626	no_errors	ENST00000300527	ensembl	human	known	74_37	missense	26.09	34	12	SNP	1.000	A
CRTC1	23373	genome.wustl.edu	37	19	18882281	18882281	+	Silent	SNP	C	C	T	rs370433268		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr19:18882281C>T	ENST00000321949.8	+	11	1376	c.1350C>T	c.(1348-1350)agC>agT	p.S450S	CRTC1_ENST00000594658.1_Silent_p.S409S|CRTC1_ENST00000338797.6_Silent_p.S466S|CRTC1_ENST00000601916.1_Intron	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1										CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						ACCGCACTAGCGCCGGCTCCC	0.697																																																	0								C	,	1,4403	2.1+/-5.4	0,1,2201	53.0	56.0	55.0		1398,1350	-3.6	1.0	19		55	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous	CRTC1	NM_001098482.1,NM_015321.2	,	0,1,6499	TT,TC,CC		0.0,0.0227,0.0077	,	466/651,450/635	18882281	1,12999	2202	4298	6500	SO:0001819	synonymous_variant	0			AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"""transducer of regulated cAMP response element-binding protein"""	607536	"""mucoepidermoid carcinoma translocated 1"""	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.1350C>T	19.37:g.18882281C>T				Silent	SNP	NULL	p.S466	ENST00000321949.8	37	c.1398	CCDS32963.1	19																																																																																			CRTC1	-	NULL	ENSG00000105662		0.697	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CRTC1	HGNC	protein_coding	OTTHUMT00000465151.3	-	0.00	56	0	C	NM_025021		18882281	+1	tier1	-	no_errors	ENST00000338797	ensembl	human	known	74_37	silent	26.25	58	21	SNP	0.997	T
CSMD1	64478	genome.wustl.edu	37	8	2876172	2876172	+	Splice_Site	SNP	A	A	C	rs201262421		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr8:2876172A>C	ENST00000520002.1	-	53	8414	c.7859T>G	c.(7858-7860)gTt>gGt	p.V2620G	CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000537824.1_Splice_Site_p.V2619G|CSMD1_ENST00000602557.1_Splice_Site_p.V2620G|CSMD1_ENST00000400186.3_Intron			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2620	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACACGAGATAACTAGAAGGAA	0.383																																																	0													91.0	88.0	89.0					8																	2876172		1869	4104	5973	SO:0001630	splice_region_variant	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.7859-1T>G	8.37:g.2876172A>C			Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.V2620G	ENST00000520002.1	37	c.7859		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.22|16.22	3.061145|3.061145	0.55432|0.55432	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000520002;ENST00000318252;ENST00000537824	.|T;T	.|0.25085	.|1.82;1.82	5.0|5.0	5.0|5.0	0.66597|0.66597	.|Complement control module (2);Sushi/SCR/CCP (1);	.|0.175896	.|0.37261	.|N	.|0.002179	T|T	0.38957|0.38957	0.1060|0.1060	M|M	0.85542|0.85542	2.76|2.76	0.80722|0.80722	D|D	1|1	.|D;P	.|0.55385	.|0.971;0.754	.|P;B	.|0.47299	.|0.543;0.397	T|T	0.44143|0.44143	-0.9347|-0.9347	5|10	.|0.16420	.|T	.|0.52	.|.	14.9954|14.9954	0.71428|0.71428	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|2620;2620	.|E5RIG2;Q96PZ7	.|.;CSMD1_HUMAN	R|G	2036|2620;2481;2619	.|ENSP00000430733:V2620G;ENSP00000441462:V2619G	.|ENSP00000320445:V2481G	S|V	-|-	3|2	2|0	CSMD1|CSMD1	2863579|2863579	1.000000|1.000000	0.71417|0.71417	0.653000|0.653000	0.29593|0.29593	0.300000|0.300000	0.27592|0.27592	9.036000|9.036000	0.93758|0.93758	2.001000|2.001000	0.58596|0.58596	0.533000|0.533000	0.62120|0.62120	AGT|GTT	CSMD1	-	superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000183117		0.383	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	-	0.00	69	0	A	NM_033225	Missense_Mutation	2876172	-1	tier1	-	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	19.77	69	17	SNP	0.998	C
CTR9	9646	genome.wustl.edu	37	11	10773002	10773002	+	Missense_Mutation	SNP	G	G	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr11:10773002G>A	ENST00000361367.2	+	1	469	c.43G>A	c.(43-45)Gag>Aag	p.E15K		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	15					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GGACACTGACGAGGTAAGTGT	0.622																																																	0													36.0	38.0	37.0					11																	10773002		2201	4294	6495	SO:0001583	missense	0			D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.43G>A	11.37:g.10773002G>A	ENSP00000355013:p.Glu15Lys		D3DQV8|Q15015	Missense_Mutation	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E15K	ENST00000361367.2	37	c.43	CCDS7805.1	11	.	.	.	.	.	.	.	.	.	.	G	37	6.401477	0.97537	.	.	ENSG00000198730	ENST00000361367;ENST00000524523	T	0.58652	0.32	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.66386	0.2784	M	0.81239	2.535	0.80722	D	1	P	0.50272	0.933	P	0.44772	0.46	T	0.73065	-0.4100	10	0.72032	D	0.01	-28.1709	18.1653	0.89723	0.0:0.0:1.0:0.0	.	15	Q6PD62	CTR9_HUMAN	K	15;2	ENSP00000355013:E15K	ENSP00000355013:E15K	E	+	1	0	CTR9	10729578	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.006000	0.93592	2.805000	0.96524	0.650000	0.86243	GAG	CTR9	-	NULL	ENSG00000198730		0.622	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTR9	HGNC	protein_coding	OTTHUMT00000386215.1	-	0.00	32	0	G	NM_014633		10773002	+1	tier1	-	no_errors	ENST00000361367	ensembl	human	known	74_37	missense	27.91	31	12	SNP	1.000	A
CTR9	9646	genome.wustl.edu	37	11	10787949	10787949	+	Splice_Site	SNP	G	G	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr11:10787949G>A	ENST00000361367.2	+	13	2024	c.1598G>A	c.(1597-1599)tGc>tAc	p.C533Y		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	533					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		ATGTTTTCAGGCTATTTGCGC	0.308																																																	0													74.0	80.0	78.0					11																	10787949		2201	4294	6495	SO:0001630	splice_region_variant	0			D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.1598-1G>A	11.37:g.10787949G>A			D3DQV8|Q15015	Missense_Mutation	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.C533Y	ENST00000361367.2	37	c.1598	CCDS7805.1	11	.	.	.	.	.	.	.	.	.	.	G	25.0	4.587496	0.86851	.	.	ENSG00000198730	ENST00000361367	T	0.16196	2.36	5.66	5.66	0.87406	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.49064	0.1535	M	0.85197	2.74	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.52653	-0.8547	10	0.66056	D	0.02	.	19.4253	0.94739	0.0:0.0:1.0:0.0	.	533	Q6PD62	CTR9_HUMAN	Y	533	ENSP00000355013:C533Y	ENSP00000355013:C533Y	C	+	2	0	CTR9	10744525	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	9.839000	0.99476	2.688000	0.91661	0.650000	0.86243	TGC	CTR9	-	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000198730		0.308	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTR9	HGNC	protein_coding	OTTHUMT00000386215.1	-	0.00	202	0	G	NM_014633	Missense_Mutation	10787949	+1	tier1	-	no_errors	ENST00000361367	ensembl	human	known	74_37	missense	38.46	143	90	SNP	1.000	A
CYLC1	1538	genome.wustl.edu	37	X	83128459	83128459	+	Missense_Mutation	SNP	T	T	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chrX:83128459T>A	ENST00000329312.4	+	4	780	c.743T>A	c.(742-744)cTc>cAc	p.L248H		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	248					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GTTGATTTCCTCATGTTAGTG	0.313																																																	0													39.0	36.0	37.0					X																	83128459		2193	4291	6484	SO:0001583	missense	0			Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.743T>A	X.37:g.83128459T>A	ENSP00000331556:p.Leu248His		A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	NULL	p.L248H	ENST00000329312.4	37	c.743	CCDS35341.1	X	.	.	.	.	.	.	.	.	.	.	t	11.20	1.568757	0.28003	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.50001	0.76	4.92	3.78	0.43462	.	.	.	.	.	T	0.45074	0.1324	L	0.36672	1.1	0.09310	N	1	D;D	0.61697	0.99;0.99	P;P	0.53313	0.723;0.723	T	0.23762	-1.0179	9	0.40728	T	0.16	1.966	5.6956	0.17853	0.0:0.1178:0.0:0.8821	.	248;248	P35663;F5H4V5	CYLC1_HUMAN;.	H	248	ENSP00000331556:L248H	ENSP00000331556:L248H	L	+	2	0	CYLC1	83015115	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.382000	0.20635	1.927000	0.55829	0.486000	0.48141	CTC	CYLC1	-	NULL	ENSG00000183035		0.313	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYLC1	HGNC	protein_coding	OTTHUMT00000057371.1	-	0.00	29	0	T	NM_021118		83128459	+1	tier1	-	no_errors	ENST00000329312	ensembl	human	known	74_37	missense	67.80	19	40	SNP	0.001	A
DCAF12L1	139170	genome.wustl.edu	37	X	125685285	125685285	+	Missense_Mutation	SNP	T	T	G			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chrX:125685285T>G	ENST00000371126.1	-	1	1549	c.1307A>C	c.(1306-1308)tAc>tCc	p.Y436S		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	436								p.Y436C(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						AGGCCAGTTGTAGCAGTGGGT	0.557																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											125.0	120.0	122.0					X																	125685285		2203	4300	6503	SO:0001583	missense	0			BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.1307A>C	X.37:g.125685285T>G	ENSP00000360167:p.Tyr436Ser		Q8IYK3	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Y436S	ENST00000371126.1	37	c.1307	CCDS14610.1	X	.	.	.	.	.	.	.	.	.	.	T	18.12	3.553337	0.65425	.	.	ENSG00000198889	ENST00000371126	T	0.34275	1.37	3.85	3.85	0.44370	.	0.000000	0.32769	N	0.005663	T	0.51415	0.1673	L	0.56280	1.765	0.43326	D	0.995351	D	0.89917	1.0	D	0.85130	0.997	T	0.51772	-0.8663	10	0.56958	D	0.05	.	10.1034	0.42519	0.0:0.0:0.0:1.0	.	436	Q5VU92	DC121_HUMAN	S	436	ENSP00000360167:Y436S	ENSP00000360167:Y436S	Y	-	2	0	DCAF12L1	125512966	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	6.993000	0.76245	1.745000	0.51790	0.417000	0.27973	TAC	DCAF12L1	-	NULL	ENSG00000198889		0.557	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12L1	HGNC	protein_coding	OTTHUMT00000058186.1	-	0.00	43	0	T	NM_178470		125685285	-1	tier1	-	no_errors	ENST00000371126	ensembl	human	known	74_37	missense	75.41	15	46	SNP	1.000	G
DCN	1634	genome.wustl.edu	37	12	91558455	91558455	+	Missense_Mutation	SNP	G	G	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr12:91558455G>T	ENST00000052754.5	-	3	752	c.251C>A	c.(250-252)aCt>aAt	p.T84N	DCN_ENST00000552962.1_Missense_Mutation_p.T84N|DCN_ENST00000456569.2_Intron|DCN_ENST00000441303.2_Missense_Mutation_p.T84N|DCN_ENST00000228329.5_Intron|DCN_ENST00000425043.1_Intron|DCN_ENST00000393155.1_Missense_Mutation_p.T84N|DCN_ENST00000547568.2_Intron|DCN_ENST00000420120.2_Intron|DCN_ENST00000303320.3_Missense_Mutation_p.T84N	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	84					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						GTCTAGCAGAGTTGTGTCAGG	0.403																																																	0													133.0	121.0	125.0					12																	91558455		2203	4300	6503	SO:0001583	missense	0			AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	2705	protein-coding gene	gene with protein product	"""decorin proteoglycan"""	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.251C>A	12.37:g.91558455G>T	ENSP00000052754:p.Thr84Asn		Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan	p.T84N	ENST00000052754.5	37	c.251	CCDS9039.1	12	.	.	.	.	.	.	.	.	.	.	G	12.02	1.813027	0.32053	.	.	ENSG00000011465	ENST00000052754;ENST00000303320;ENST00000393155;ENST00000552962;ENST00000441303;ENST00000547937;ENST00000552145;ENST00000550563;ENST00000549513	T;D;T;T;D;T;T;T;D	0.84442	3.47;-1.85;3.47;3.47;-1.85;3.47;3.47;3.47;-1.85	6.08	5.07	0.68467	Leucine-rich repeat-containing N-terminal (1);	0.178850	0.64402	D	0.000013	D	0.89114	0.6623	L	0.49455	1.56	0.80722	D	1	B;D	0.76494	0.011;0.999	B;D	0.70016	0.058;0.967	D	0.88326	0.2965	10	0.42905	T	0.14	.	13.015	0.58751	0.0932:0.0:0.9068:0.0	.	84;84	P07585;P07585-4	PGS2_HUMAN;.	N	84	ENSP00000052754:T84N;ENSP00000302031:T84N;ENSP00000376862:T84N;ENSP00000447654:T84N;ENSP00000399815:T84N;ENSP00000449782:T84N;ENSP00000447886:T84N;ENSP00000449014:T84N;ENSP00000449438:T84N	ENSP00000052754:T84N	T	-	2	0	DCN	90082586	1.000000	0.71417	0.090000	0.20809	0.013000	0.08279	4.301000	0.59086	1.328000	0.45358	0.591000	0.81541	ACT	DCN	-	smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan	ENSG00000011465		0.403	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCN	HGNC	protein_coding	OTTHUMT00000406799.3		0.00	76	0	G	NM_133507		91558455	-1			no_errors	ENST00000052754	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.742	T
DDX50	79009	genome.wustl.edu	37	10	70673227	70673227	+	Missense_Mutation	SNP	G	G	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr10:70673227G>A	ENST00000373585.3	+	6	945	c.838G>A	c.(838-840)Gat>Aat	p.D280N	RNU6-571P_ENST00000384128.1_RNA	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	280	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						TGGCCGATTGGATCTTTCTAA	0.393																																																	0													163.0	153.0	156.0					10																	70673227		2203	4300	6503	SO:0001583	missense	0			AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"""DEAD-boxes"""	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.838G>A	10.37:g.70673227G>A	ENSP00000362687:p.Asp280Asn		Q5VX37|Q8WV76|Q9BWI8	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D280N	ENST00000373585.3	37	c.838	CCDS7283.1	10	.	.	.	.	.	.	.	.	.	.	G	16.15	3.040264	0.55003	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	T	0.13196	2.61	5.09	5.09	0.68999	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.142165	0.64402	D	0.000007	T	0.09730	0.0239	N	0.10945	0.07	0.46927	D	0.999258	B;B	0.27594	0.182;0.055	B;B	0.29440	0.102;0.058	T	0.27839	-1.0062	10	0.38643	T	0.18	-15.8188	17.0308	0.86460	0.0:0.0:1.0:0.0	.	280;280	Q9BQ39;B4DED6	DDX50_HUMAN;.	N	280	ENSP00000362687:D280N	ENSP00000362687:D280N	D	+	1	0	DDX50	70343233	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.078000	0.71282	2.530000	0.85305	0.462000	0.41574	GAT	DDX50	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000107625		0.393	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX50	HGNC	protein_coding	OTTHUMT00000048363.1	-	0.00	65	0	G	NM_024045		70673227	+1	tier1	-	no_errors	ENST00000373585	ensembl	human	known	74_37	missense	31.17	53	24	SNP	1.000	A
DENND1A	57706	genome.wustl.edu	37	9	126144356	126144356	+	Silent	SNP	G	G	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr9:126144356G>A	ENST00000373624.2	-	22	2586	c.2385C>T	c.(2383-2385)ggC>ggT	p.G795G	DENND1A_ENST00000394219.3_Silent_p.G806G|DENND1A_ENST00000542603.1_Silent_p.G580G|DENND1A_ENST00000473039.1_5'UTR	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	795	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GGAGGGTGCTGCCTGACCAGG	0.697																																																	0													8.0	13.0	11.0					9																	126144356		2172	4262	6434	SO:0001819	synonymous_variant	0			AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.2385C>T	9.37:g.126144356G>A			A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Silent	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.G806	ENST00000373624.2	37	c.2418	CCDS35133.1	9																																																																																			DENND1A	-	NULL	ENSG00000119522		0.697	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DENND1A	HGNC	protein_coding	OTTHUMT00000053997.1		0.00	12	0	G	NM_024820		126144356	-1			no_errors	ENST00000394219	ensembl	human	known	74_37	silent	66.67	1	2	SNP	0.541	A
DEPDC5	9681	genome.wustl.edu	37	22	32270317	32270317	+	Missense_Mutation	SNP	G	G	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr22:32270317G>A	ENST00000382112.3	+	35	3665	c.3595G>A	c.(3595-3597)Gcg>Acg	p.A1199T	DEPDC5_ENST00000494060.1_3'UTR|DEPDC5_ENST00000535622.1_Missense_Mutation_p.A1108T|DEPDC5_ENST00000382111.2_Missense_Mutation_p.A1208T|DEPDC5_ENST00000400246.1_Missense_Mutation_p.A1208T|DEPDC5_ENST00000400249.2_Missense_Mutation_p.A1177T|DEPDC5_ENST00000400248.2_Missense_Mutation_p.A1177T|DEPDC5_ENST00000382105.2_Missense_Mutation_p.A1130T|DEPDC5_ENST00000539165.1_Missense_Mutation_p.A25T|DEPDC5_ENST00000266091.3_Missense_Mutation_p.A1186T	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1208	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CTTCATCAGCGCGGAGGTGGT	0.587																																																	0													46.0	50.0	49.0					22																	32270317		2075	4189	6264	SO:0001583	missense	0			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.3595G>A	22.37:g.32270317G>A	ENSP00000371546:p.Ala1199Thr		A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	pfam_IML1,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.A1186T	ENST00000382112.3	37	c.3556	CCDS46692.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.088043|5.088043	0.94100|0.94100	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248;ENST00000539165|ENST00000433147	T;T;T;T;T;T;T;T;T|.	0.34275|.	1.94;1.94;1.94;1.94;1.37;1.94;1.94;1.94;1.94|.	4.92|4.92	4.92|4.92	0.64577|0.64577	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74527|0.74527	0.3728|0.3728	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D|.	0.91635|.	0.998;0.999;0.999;0.996;0.998;0.997|.	T|T	0.74377|0.74377	-0.3685|-0.3685	10|5	0.26408|.	T|.	0.33|.	.|.	17.288|17.288	0.87147|0.87147	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1208;1108;594;1186;1199;1177|.	B9EGN9;B4DH93;O75140-7;O75140-4;A8MPX9;O75140|.	.;.;.;.;.;DEPD5_HUMAN|.	T|H	1108;1186;1177;1108;1208;1130;1199;1208;1177;25|583	ENSP00000440210:A1108T;ENSP00000266091:A1186T;ENSP00000383108:A1177T;ENSP00000383105:A1208T;ENSP00000371539:A1130T;ENSP00000371546:A1199T;ENSP00000371545:A1208T;ENSP00000383107:A1177T;ENSP00000446286:A25T|.	ENSP00000266091:A1186T|.	A|R	+|+	1|2	0|0	DEPDC5|DEPDC5	30600317|30600317	1.000000|1.000000	0.71417|0.71417	0.938000|0.938000	0.37757|0.37757	0.721000|0.721000	0.41392|0.41392	8.522000|8.522000	0.90573|0.90573	2.558000|2.558000	0.86282|0.86282	0.561000|0.561000	0.74099|0.74099	GCG|CGC	DEPDC5	-	pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	ENSG00000100150		0.587	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DEPDC5	HGNC	protein_coding	OTTHUMT00000129087.1	-	0.00	22	0	G	NM_014662		32270317	+1	tier1	-	no_errors	ENST00000266091	ensembl	human	known	74_37	missense	35.00	13	7	SNP	1.000	A
DIP2B	57609	genome.wustl.edu	37	12	51097964	51097964	+	Silent	SNP	G	G	T	rs554657164		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr12:51097964G>T	ENST00000301180.5	+	20	2401	c.2367G>T	c.(2365-2367)gtG>gtT	p.V789V		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	789						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TTGGGGATGTGCCATTCATCC	0.378																																																	0													160.0	148.0	152.0					12																	51097964		2203	4300	6503	SO:0001819	synonymous_variant	0			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.2367G>T	12.37:g.51097964G>T			Q6B011|Q8N1L5|Q8NB38	Silent	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.V789	ENST00000301180.5	37	c.2367	CCDS31799.1	12																																																																																			DIP2B	-	pfam_AMP-dep_Synth/Lig	ENSG00000066084		0.378	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2B	HGNC	protein_coding	OTTHUMT00000404243.1	-	0.00	89	0	G	NM_173602		51097964	+1	tier1	-	no_errors	ENST00000301180	ensembl	human	known	74_37	silent	5.10	93	5	SNP	0.065	T
DISP2	85455	genome.wustl.edu	37	15	40650534	40650536	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	CAG	CAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr15:40650534_40650536delCAG	ENST00000267889.3	+	1	99_101	c.12_14delCAG	c.(10-15)gacagc>gac	p.S9del		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	9					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TGGACGGTGAcagcagcagcagc	0.818																																																	0										9,1127		3,3,562						-2.5	0.0			1	32,2792		9,14,1389	no	coding	DISP2	NM_033510.1		12,17,1951	A1A1,A1R,RR		1.1331,0.7923,1.0354				41,3919				SO:0001651	inframe_deletion	0			AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.12_14delCAG	15.37:g.40650543_40650545delCAG	ENSP00000267889:p.Ser9del		Q6AHW3|Q9C0C1	In_Frame_Del	DEL	pfscan_SSD	p.S8in_frame_del	ENST00000267889.3	37	c.12_14	CCDS10056.1	15																																																																																			DISP2	-	NULL	ENSG00000140323		0.818	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DISP2	HGNC	protein_coding	OTTHUMT00000252249.1		0.00	9	0	CAG	NM_033510		40650536	+1			no_errors	ENST00000267889	ensembl	human	known	74_37	in_frame_del	33.33	4	2	DEL	0.000:0.000:0.006	0
GNAO1	2775	genome.wustl.edu	37	16	56226643	56226643	+	Intron	SNP	C	C	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr16:56226643C>T	ENST00000262493.6	+	2	1007				RP11-461O7.1_ENST00000501259.1_lincRNA|CTD-2050B12.2_ENST00000567381.1_RNA|GNAO1_ENST00000262494.7_Intron|GNAO1_ENST00000569295.1_Intron	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|dopamine receptor signaling pathway (GO:0007212)|forebrain development (GO:0030900)|locomotory behavior (GO:0007626)|muscle contraction (GO:0006936)|negative regulation of calcium ion transport (GO:0051926)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|regulation of heart contraction (GO:0008016)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to morphine (GO:0043278)	heterotrimeric G-protein complex (GO:0005834)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	corticotropin-releasing hormone receptor 1 binding (GO:0051430)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|mu-type opioid receptor binding (GO:0031852)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				TTCGTGcacacacacacacac	0.438																																																	0																																										SO:0001627	intron_variant	0				CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258			4389	protein-coding gene	gene with protein product		139311				1899283, 11395521	Standard	NM_020988		Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262493.6:c.161+115C>T	16.37:g.56226643C>T			P29777|Q8TD72|Q9UMV4	RNA	SNP	-	NULL	ENST00000262493.6	37	NULL	CCDS10756.1	16																																																																																			CTD-2050B12.2	-	-	ENSG00000261439		0.438	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DKFZP434H168	Clone_based_vega_gene	protein_coding	OTTHUMT00000256981.2	-	0.00	43	0	C	NM_020988		56226643	-1	tier1	-	no_errors	ENST00000567381	ensembl	human	known	74_37	rna	6.35	59	4	SNP	0.988	T
DLEC1	9940	genome.wustl.edu	37	3	38158135	38158135	+	Nonsense_Mutation	SNP	G	G	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr3:38158135G>T	ENST00000308059.6	+	28	4069	c.4048G>T	c.(4048-4050)Gaa>Taa	p.E1350*	DLEC1_ENST00000452631.2_Nonsense_Mutation_p.E1353*|DLEC1_ENST00000346219.3_Nonsense_Mutation_p.E1350*					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ATTCAGCCATGAAACTGACTC	0.627																																																	0													57.0	57.0	57.0					3																	38158135		1949	4133	6082	SO:0001587	stop_gained	0			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.4048G>T	3.37:g.38158135G>T	ENSP00000308597:p.Glu1350*			Nonsense_Mutation	SNP	superfamily_PapD-like	p.E1350*	ENST00000308059.6	37	c.4048	CCDS2672.2	3	.	.	.	.	.	.	.	.	.	.	G	40	8.452506	0.98817	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	.	.	.	4.65	2.82	0.32997	.	1.823620	0.02868	N	0.131149	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	0.0041	6.9323	0.24447	0.2229:0.0:0.7771:0.0	.	.	.	.	X	1350;1350;1353	.	ENSP00000308597:E1350X	E	+	1	0	DLEC1	38133139	0.001000	0.12720	0.002000	0.10522	0.073000	0.16967	0.789000	0.26886	0.483000	0.27608	0.313000	0.20887	GAA	DLEC1	-	NULL	ENSG00000008226		0.627	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DLEC1	HGNC	protein_coding	OTTHUMT00000253745.3	-	0.00	87	0	G	NM_007337		38158135	+1	tier1	-	no_errors	ENST00000346219	ensembl	human	known	74_37	nonsense	6.45	58	4	SNP	0.002	T
DNAH12	201625	genome.wustl.edu	37	3	57391564	57391564	+	Missense_Mutation	SNP	G	G	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr3:57391564G>A	ENST00000351747.2	-	41	6515	c.6335C>T	c.(6334-6336)gCc>gTc	p.A2112V		NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	2112					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						GTTCGCCACGGCGTCTCTTTC	0.443																																																	0													119.0	103.0	108.0					3																	57391564		692	1591	2283	SO:0001583	missense	0			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.6335C>T	3.37:g.57391564G>A	ENSP00000295937:p.Ala2112Val		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.A2112V	ENST00000351747.2	37	c.6335		3	.	.	.	.	.	.	.	.	.	.	G	13.60	2.284222	0.40394	.	.	ENSG00000174844	ENST00000351747;ENST00000495027	T;T	0.30448	1.53;1.53	5.56	5.56	0.83823	.	.	.	.	.	T	0.29158	0.0725	N	0.16307	0.4	0.80722	D	1	B	0.31655	0.334	B	0.40444	0.329	T	0.07966	-1.0745	9	0.32370	T	0.25	.	19.5215	0.95187	0.0:0.0:1.0:0.0	.	2112	Q6ZR08	DYH12_HUMAN	V	2112;2131	ENSP00000295937:A2112V;ENSP00000418137:A2131V	ENSP00000295937:A2112V	A	-	2	0	DNAH12	57366604	1.000000	0.71417	0.955000	0.39395	0.087000	0.18053	7.846000	0.86887	2.585000	0.87301	0.650000	0.86243	GCC	DNAH12	-	superfamily_P-loop_NTPase	ENSG00000174844		0.443	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	DNAH12	HGNC	protein_coding		-	0.00	56	0	G	NM_178504		57391564	-1	tier1	-	no_errors	ENST00000351747	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.793	A
DNAJC13	23317	genome.wustl.edu	37	3	132175635	132175635	+	Silent	SNP	G	G	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr3:132175635G>T	ENST00000260818.6	+	12	1556	c.1308G>T	c.(1306-1308)gtG>gtT	p.V436V	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	436					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GGAGGCTTGTGGCATCCAAAG	0.433																																																	0													93.0	89.0	90.0					3																	132175635		2203	4300	6503	SO:0001819	synonymous_variant	0			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.1308G>T	3.37:g.132175635G>T			Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Silent	SNP	pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain	p.V436	ENST00000260818.6	37	c.1308	CCDS33857.1	3																																																																																			DNAJC13	-	NULL	ENSG00000138246		0.433	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC13	HGNC	protein_coding	OTTHUMT00000356807.2	-	0.00	44	0	G	NM_015268		132175635	+1	tier1	-	no_errors	ENST00000260818	ensembl	human	known	74_37	silent	10.53	34	4	SNP	0.985	T
DPEP1	1800	genome.wustl.edu	37	16	89702746	89702746	+	Silent	SNP	G	G	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr16:89702746G>T	ENST00000393092.3	+	4	603	c.312G>T	c.(310-312)gtG>gtT	p.V104V	DPEP1_ENST00000421184.1_Silent_p.V104V|DPEP1_ENST00000261615.4_Silent_p.V104V	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	104					antibiotic metabolic process (GO:0016999)|arachidonic acid metabolic process (GO:0019369)|cellular lactam catabolic process (GO:0072340)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to nitric oxide (GO:0071732)|glutathione metabolic process (GO:0006749)|homocysteine metabolic process (GO:0050667)|leukotriene metabolic process (GO:0006691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dipeptidyl-peptidase activity (GO:0008239)|GPI anchor binding (GO:0034235)|metallodipeptidase activity (GO:0070573)|metalloexopeptidase activity (GO:0008235)|modified amino acid binding (GO:0072341)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	AGATGGACGTGGTCCACCGCA	0.642																																																	0													64.0	53.0	57.0					16																	89702746		2183	4293	6476	SO:0001819	synonymous_variant	0				CCDS10982.1	16q24	2011-07-22			ENSG00000015413	ENSG00000015413	3.4.13.19		3002	protein-coding gene	gene with protein product		179780					Standard	NM_004413		Approved		uc002fnr.4	P16444	OTTHUMG00000138052	ENST00000393092.3:c.312G>T	16.37:g.89702746G>T			D3DX80|Q96AK2	Silent	SNP	pfam_Peptidase_M19	p.V104	ENST00000393092.3	37	c.312	CCDS10982.1	16																																																																																			DPEP1	-	pfam_Peptidase_M19	ENSG00000015413		0.642	DPEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DPEP1	HGNC	protein_coding	OTTHUMT00000423058.1		0.00	14	0	G	NM_001128141		89702746	+1			no_errors	ENST00000261615	ensembl	human	known	74_37	silent	20.00	12	3	SNP	0.676	T
DSCAM	1826	genome.wustl.edu	37	21	41561162	41561162	+	Missense_Mutation	SNP	G	G	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr21:41561162G>T	ENST00000400454.1	-	12	2837	c.2360C>A	c.(2359-2361)cCt>cAt	p.P787H		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	787	Ig-like C2-type 9.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.P787H(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TATCATCGCAGGAACTGAAAA	0.473																																					Melanoma(134;970 1778 1785 21664 32388)												1	Substitution - Missense(1)	large_intestine(1)											68.0	66.0	67.0					21																	41561162		1940	4135	6075	SO:0001583	missense	0			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.2360C>A	21.37:g.41561162G>T	ENSP00000383303:p.Pro787His		O60468	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P787H	ENST00000400454.1	37	c.2360	CCDS42929.1	21	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164677	0.57476	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.52295	0.67;0.67	5.28	5.28	0.74379	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.059233	0.64402	D	0.000001	T	0.70081	0.3183	M	0.89163	3.01	0.58432	D	0.999999	D	0.65815	0.995	P	0.55667	0.781	T	0.77819	-0.2446	10	0.87932	D	0	.	18.9074	0.92467	0.0:0.0:1.0:0.0	.	787	O60469	DSCAM_HUMAN	H	787;539	ENSP00000383303:P787H;ENSP00000385342:P539H	ENSP00000383303:P787H	P	-	2	0	DSCAM	40483032	1.000000	0.71417	0.988000	0.46212	0.037000	0.13140	9.704000	0.98716	2.441000	0.82636	0.561000	0.74099	CCT	DSCAM	-	pfscan_Ig-like_dom	ENSG00000171587		0.473	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	-	0.00	31	0	G	NM_001389		41561162	-1	tier1	-	no_errors	ENST00000400454	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T
DSG2	1829	genome.wustl.edu	37	18	29111132	29111132	+	Missense_Mutation	SNP	G	G	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr18:29111132G>T	ENST00000261590.8	+	9	1406	c.1197G>T	c.(1195-1197)gaG>gaT	p.E399D		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	399	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			ATGTTAGCGAGAGCATGGATA	0.403																																																	0													143.0	128.0	133.0					18																	29111132		1861	4109	5970	SO:0001583	missense	0			Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.1197G>T	18.37:g.29111132G>T	ENSP00000261590:p.Glu399Asp		Q4KKU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin	p.E399D	ENST00000261590.8	37	c.1197	CCDS42423.1	18	.	.	.	.	.	.	.	.	.	.	G	16.14	3.037395	0.54896	.	.	ENSG00000046604	ENST00000261590	T	0.72051	-0.62	5.02	1.52	0.23074	Cadherin (2);Cadherin-like (1);	0.000000	0.64402	D	0.000017	T	0.79873	0.4521	M	0.69823	2.125	0.38177	D	0.939497	D	0.76494	0.999	D	0.74348	0.983	T	0.80874	-0.1187	10	0.62326	D	0.03	.	10.207	0.43118	0.3297:0.0:0.6703:0.0	.	399	Q14126	DSG2_HUMAN	D	399	ENSP00000261590:E399D	ENSP00000261590:E399D	E	+	3	2	DSG2	27365130	0.884000	0.30299	0.161000	0.22692	0.060000	0.15804	1.396000	0.34531	0.487000	0.27698	0.491000	0.48974	GAG	DSG2	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000046604		0.403	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG2	HGNC	protein_coding	OTTHUMT00000447506.1	-	0.00	87	0	G	NM_001943		29111132	+1	tier1	-	no_errors	ENST00000261590	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.051	T
DSG2	1829	genome.wustl.edu	37	18	29111197	29111197	+	Missense_Mutation	SNP	G	G	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr18:29111197G>T	ENST00000261590.8	+	9	1471	c.1262G>T	c.(1261-1263)gGa>gTa	p.G421V		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	421	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GAGGACACTGGACTACCAGCC	0.348																																																	0													112.0	101.0	104.0					18																	29111197		1868	4100	5968	SO:0001583	missense	0			Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.1262G>T	18.37:g.29111197G>T	ENSP00000261590:p.Gly421Val		Q4KKU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin	p.G421V	ENST00000261590.8	37	c.1262	CCDS42423.1	18	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408298	0.42715	.	.	ENSG00000046604	ENST00000261590	T	0.56444	0.46	5.02	5.02	0.67125	Cadherin (4);Cadherin-like (1);	0.000000	0.56097	D	0.000025	T	0.77844	0.4191	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81870	-0.0734	10	0.62326	D	0.03	.	18.5187	0.90944	0.0:0.0:1.0:0.0	.	421	Q14126	DSG2_HUMAN	V	421	ENSP00000261590:G421V	ENSP00000261590:G421V	G	+	2	0	DSG2	27365195	1.000000	0.71417	0.977000	0.42913	0.168000	0.22595	3.114000	0.50383	2.606000	0.88127	0.491000	0.48974	GGA	DSG2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000046604		0.348	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG2	HGNC	protein_coding	OTTHUMT00000447506.1		0.00	71	0	G	NM_001943		29111197	+1			no_errors	ENST00000261590	ensembl	human	known	74_37	missense	5.45	52	3	SNP	0.995	T
DSEL	92126	genome.wustl.edu	37	18	65180269	65180269	+	Missense_Mutation	SNP	A	A	G			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr18:65180269A>G	ENST00000310045.7	-	2	3080	c.1607T>C	c.(1606-1608)cTt>cCt	p.L536P	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	526					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AGTCCACTTAAGCCACTGCGC	0.507																																																	0													90.0	79.0	83.0					18																	65180269		2203	4300	6503	SO:0001583	missense	0			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.1607T>C	18.37:g.65180269A>G	ENSP00000310565:p.Leu536Pro		Q17RH1|Q6P5Z3	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas	p.L536P	ENST00000310045.7	37	c.1607	CCDS11995.1	18	.	.	.	.	.	.	.	.	.	.	A	19.11	3.764040	0.69878	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.24723	1.84	5.67	5.67	0.87782	.	0.000000	0.64402	U	0.000004	T	0.53433	0.1796	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.58470	-0.7631	10	0.87932	D	0	-11.471	15.578	0.76408	1.0:0.0:0.0:0.0	.	526	Q8IZU8	DSEL_HUMAN	P	536;526	ENSP00000310565:L536P	ENSP00000310565:L536P	L	-	2	0	DSEL	63331249	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.113000	0.94321	2.169000	0.68431	0.460000	0.39030	CTT	DSEL	-	NULL	ENSG00000171451		0.507	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSEL	HGNC	protein_coding	OTTHUMT00000256221.1	-	0.00	35	0	A	NM_032160		65180269	-1	tier1	-	no_errors	ENST00000310045	ensembl	human	known	74_37	missense	56.41	17	22	SNP	1.000	G
CRACR2A	84766	genome.wustl.edu	37	12	3747573	3747573	+	Missense_Mutation	SNP	G	G	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr12:3747573G>A	ENST00000440314.2	-	14	1792	c.1319C>T	c.(1318-1320)tCc>tTc	p.S440F		NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN		0					activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			CAGGCCCAGGGAGCTTCTCCT	0.592																																																	0													15.0	18.0	17.0					12																	3747573		692	1591	2283	SO:0001583	missense	0																														ENST00000440314.2:c.1319C>T	12.37:g.3747573G>A	ENSP00000409382:p.Ser440Phe		B4E1X0|B9EK63	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_EF_hand_dom,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_hand_dom,tigrfam_Small_GTP-bd_dom	p.S440F	ENST00000440314.2	37	c.1319	CCDS44803.1	12	.	.	.	.	.	.	.	.	.	.	G	16.30	3.085160	0.55861	.	.	ENSG00000130038	ENST00000440314	T	0.62498	0.02	4.97	4.97	0.65823	.	.	.	.	.	T	0.79381	0.4436	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.82028	-0.0660	8	0.87932	D	0	.	15.7687	0.78146	0.0:0.0:1.0:0.0	.	440	Q9BSW2-2	.	F	440	ENSP00000409382:S440F	ENSP00000409382:S440F	S	-	2	0	EFCAB4B	3617834	1.000000	0.71417	1.000000	0.80357	0.466000	0.32739	6.361000	0.73070	2.575000	0.86900	0.650000	0.86243	TCC	EFCAB4B	-	NULL	ENSG00000130038		0.592	EFCAB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB4B	HGNC	protein_coding	OTTHUMT00000398640.2	-	0.00	85	0	G			3747573	-1	tier1	-	no_errors	ENST00000440314	ensembl	human	known	74_37	missense	50.63	39	40	SNP	1.000	A
EHD3	30845	genome.wustl.edu	37	2	31467221	31467221	+	Silent	SNP	A	A	G			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr2:31467221A>G	ENST00000322054.5	+	2	594	c.309A>G	c.(307-309)ggA>ggG	p.G103G	EHD3_ENST00000541626.1_Silent_p.G103G	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	103	Dynamin-type G.				blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					TGATGCAGGGAGACATGGAGG	0.567																																																	0													106.0	83.0	91.0					2																	31467221		2203	4300	6503	SO:0001819	synonymous_variant	0			AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"""EF-hand domain containing"""	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.309A>G	2.37:g.31467221A>G			B4DFR5|D6W574|Q8N514|Q9NZB3	Silent	SNP	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology	p.G103	ENST00000322054.5	37	c.309	CCDS1774.1	2																																																																																			EHD3	-	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	ENSG00000013016		0.567	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD3	HGNC	protein_coding	OTTHUMT00000216810.1	-	0.00	27	0	A	NM_014600		31467221	+1	tier1	-	no_errors	ENST00000322054	ensembl	human	known	74_37	silent	29.27	29	12	SNP	0.010	G
ELF2	1998	genome.wustl.edu	37	4	139994616	139994616	+	Missense_Mutation	SNP	C	C	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr4:139994616C>T	ENST00000394235.2	-	5	846	c.344G>A	c.(343-345)aGa>aAa	p.R115K	ELF2_ENST00000265495.4_Missense_Mutation_p.R115K|ELF2_ENST00000379550.1_Missense_Mutation_p.R115K|ELF2_ENST00000379549.2_Missense_Mutation_p.R55K|ELF2_ENST00000510408.1_Missense_Mutation_p.R55K|ELF2_ENST00000358635.3_Missense_Mutation_p.R55K	NM_001276458.1	NP_001263387.1			E74-like factor 2 (ets domain transcription factor)											endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					ACCAGGACTTCTTGAATCCCT	0.363																																																	0													96.0	90.0	92.0					4																	139994616		2203	4300	6503	SO:0001583	missense	0			AF256222	CCDS3744.1, CCDS3745.1, CCDS64062.1, CCDS64063.1	4q28	2008-02-05			ENSG00000109381	ENSG00000109381			3317	protein-coding gene	gene with protein product						8756667	Standard	NM_201999		Approved	EU32, NERF, NERF-2, NERF-1A, NERF-1B	uc003ihm.2	Q15723	OTTHUMG00000133383	ENST00000394235.2:c.344G>A	4.37:g.139994616C>T	ENSP00000377782:p.Arg115Lys			Missense_Mutation	SNP	pfam_TF_Elf_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.R115K	ENST00000394235.2	37	c.344	CCDS3744.1	4	.	.	.	.	.	.	.	.	.	.	C	12.93	2.086736	0.36855	.	.	ENSG00000109381	ENST00000358635;ENST00000394235;ENST00000379550;ENST00000265495;ENST00000379549;ENST00000510408;ENST00000420916;ENST00000512627	T;T;T;T;T;T;T;T	0.15372	2.74;2.97;2.92;2.97;2.99;2.69;2.61;2.43	5.25	4.37	0.52481	.	0.048555	0.85682	D	0.000000	T	0.13884	0.0336	L	0.27053	0.805	0.40664	D	0.982152	B;B;B;B;B	0.26902	0.016;0.136;0.006;0.163;0.008	B;B;B;B;B	0.27380	0.011;0.079;0.017;0.049;0.019	T	0.11203	-1.0597	9	.	.	.	.	17.4392	0.87561	0.0:0.865:0.135:0.0	.	55;115;55;55;55	B0KYV4;Q15723-1;E9PCX3;B7Z720;Q15723-3	.;.;.;.;.	K	55;115;115;115;55;55;55;55	ENSP00000351458:R55K;ENSP00000377782:R115K;ENSP00000368868:R115K;ENSP00000265495:R115K;ENSP00000368867:R55K;ENSP00000426997:R55K;ENSP00000397796:R55K;ENSP00000426087:R55K	.	R	-	2	0	ELF2	140214066	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	4.624000	0.61254	2.462000	0.83206	0.557000	0.71058	AGA	ELF2	-	NULL	ENSG00000109381		0.363	ELF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELF2	HGNC	protein_coding	OTTHUMT00000257233.2	-	0.00	53	0	C	NM_006874		139994616	-1	tier1	-	no_errors	ENST00000379550	ensembl	human	known	74_37	missense	18.69	87	20	SNP	1.000	T
EMR1	2015	genome.wustl.edu	37	19	6901999	6901999	+	Missense_Mutation	SNP	T	T	G			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr19:6901999T>G	ENST00000312053.4	+	6	665	c.628T>G	c.(628-630)Ttg>Gtg	p.L210V	EMR1_ENST00000381407.5_Intron|EMR1_ENST00000450315.3_Intron|EMR1_ENST00000250572.8_Missense_Mutation_p.L210V|EMR1_ENST00000381404.4_Missense_Mutation_p.L158V	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	210	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CAGTGGCCACTTGAGTTTCCA	0.478																																																	0													184.0	187.0	186.0					19																	6901999		2203	4300	6503	SO:0001583	missense	0			X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.628T>G	19.37:g.6901999T>G	ENSP00000311545:p.Leu210Val		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like	p.L210V	ENST00000312053.4	37	c.628	CCDS12175.1	19	.	.	.	.	.	.	.	.	.	.	T	0.037	-1.299985	0.01364	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572	D;T;D	0.87412	-2.25;-1.18;-2.25	3.97	-7.95	0.01148	EGF-like calcium-binding (1);	.	.	.	.	T	0.73040	0.3536	L	0.43923	1.385	0.09310	N	1	B;B;B	0.13594	0.008;0.002;0.007	B;B;B	0.14578	0.007;0.005;0.011	T	0.57883	-0.7734	9	0.10902	T	0.67	.	1.9759	0.03415	0.2087:0.2975:0.3243:0.1695	.	210;158;210	Q14246-2;E9PD45;Q14246	.;.;EMR1_HUMAN	V	210;210;158;210	ENSP00000311545:L210V;ENSP00000370811:L158V;ENSP00000250572:L210V	ENSP00000250572:L210V	L	+	1	2	EMR1	6852999	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-2.914000	0.00697	-3.088000	0.00248	-0.479000	0.04858	TTG	EMR1	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom	ENSG00000174837		0.478	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR1	HGNC	protein_coding	OTTHUMT00000458485.1	-	0.00	62	0	T			6901999	+1	tier1	-	no_errors	ENST00000312053	ensembl	human	known	74_37	missense	31.58	52	24	SNP	0.000	G
ENO4	387712	genome.wustl.edu	37	10	118615135	118615135	+	Splice_Site	SNP	C	C	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr10:118615135C>A	ENST00000341276.5	+	3	225	c.170C>A	c.(169-171)gCa>gAa	p.A57E	ENO4_ENST00000409522.1_Intron	NM_001242699.1	NP_001229628.1	A6NNW6	ENO4_HUMAN	enolase family member 4	57					glycolytic process (GO:0006096)	phosphopyruvate hydratase complex (GO:0000015)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			lung(1)	1						GTGTTGAAGGCAAACTGCTTT	0.403																																																	0																																										SO:0001630	splice_region_variant	0				CCDS73206.1	10q25.3	2012-04-19	2009-12-15	2009-12-15	ENSG00000188316	ENSG00000188316			31670	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 134"""	C10orf134			Standard	NM_001242699		Approved	AC023283.3	uc021pzj.1	A6NNW6	OTTHUMG00000019113	ENST00000341276.5:c.169-1C>A	10.37:g.118615135C>A			B8ZZN9	Missense_Mutation	SNP	pfam_Enolase_C,pfam_Enolase_N	p.A57E	ENST00000341276.5	37	c.170		10	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418668	0.83559	.	.	ENSG00000188316	ENST00000341276	T	0.60548	0.18	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.70780	0.3263	M	0.63843	1.955	0.42055	D	0.991137	.	.	.	.	.	.	T	0.72541	-0.4262	8	0.87932	D	0	-12.1452	17.1927	0.86885	0.0:1.0:0.0:0.0	.	.	.	.	E	57	ENSP00000345555:A57E	ENSP00000345555:A57E	A	+	2	0	ENO4	118605125	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.982000	0.63825	2.868000	0.98415	0.557000	0.71058	GCA	ENO4	-	NULL	ENSG00000188316		0.403	ENO4-201	KNOWN	basic|appris_principal	protein_coding	ENO4	HGNC	protein_coding		-	0.00	93	0	C	NM_001242699	Missense_Mutation	118615135	+1	tier1	-	no_errors	ENST00000341276	ensembl	human	known	74_37	missense	33.90	78	40	SNP	1.000	A
BCRP7	100133163	genome.wustl.edu	37	22	18845987	18845987	+	3'UTR	SNP	T	T	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr22:18845987T>A	ENST00000412938.1	+	0	3345																											CACACCTCCATCCCGTCCTGC	0.577																																																	0																																										SO:0001624	3_prime_UTR_variant	0																														ENST00000412938.1:c.*3342T>A	22.37:g.18845987T>A				RNA	SNP	-	NULL	ENST00000412938.1	37	NULL		22																																																																																			AC008132.13	-	-	ENSG00000161103		0.577	AC008132.13-002	KNOWN	basic	processed_transcript	ENSG00000161103	Clone_based_vega_gene	protein_coding	OTTHUMT00000471615.1	-	0.00	234	0	T			18845987	+1	tier1	-	no_errors	ENST00000412938	ensembl	human	known	74_37	rna	19.11	197	47	SNP	0.022	A
AAK1	22848	genome.wustl.edu	37	2	69685684	69685684	+	IGR	SNP	C	C	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr2:69685684C>T	ENST00000409068.1	-	0	2606				RP11-427H3.3_ENST00000606389.2_lincRNA			Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1						endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						CCTTTTATCGCGAAGAACTCC	0.428																																																	0																																										SO:0001628	intergenic_variant	0			AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648		2.37:g.69685684C>T			Q4ZFZ3|Q53RX6|Q9UPV4	RNA	SNP	-	NULL	ENST00000409068.1	37	NULL		2																																																																																			RP11-427H3.3	-	-	ENSG00000188971		0.428	AAK1-011	PUTATIVE	basic	protein_coding	ENSG00000188971	Clone_based_vega_gene	protein_coding	OTTHUMT00000333994.1	-	0.00	61	0	C	NM_014911		69685684	-1	tier1	-	no_errors	ENST00000606389	ensembl	human	known	74_37	rna	34.86	71	38	SNP	0.001	T
ALOX12B	242	genome.wustl.edu	37	17	7983438	7983439	+	Intron	DEL	GC	GC	-			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	GC	GC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr17:7983438_7983439delGC	ENST00000319144.4	-	6	1015				ALOX12B_ENST00000577351.1_5'Flank|AC129492.6_ENST00000399413.3_Frame_Shift_Del_p.G40fs	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type						arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						CCGCCAGAGGGCGCGCGCGCGC	0.728										Multiple Myeloma(8;0.094)	OREG0012015|OREG0024153	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip); Conservation found by scanning with a motif model																																					0																																										SO:0001627	intron_variant	0			AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.754+113GC>-	17.37:g.7983448_7983449delGC		645		Frame_Shift_Del	DEL	NULL	p.A43fs	ENST00000319144.4	37	c.119_120	CCDS11129.1	17																																																																																			AC129492.6	-	NULL	ENSG00000214999		0.728	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000214999	Clone_based_vega_gene	protein_coding	OTTHUMT00000226984.3		0.00	28	0	GC			7983439	+1	tier1		no_errors	ENST00000399413	ensembl	human	putative	74_37	frame_shift_del	10.34	26	3	DEL	0.125:0.013	-
PHF21B	112885	genome.wustl.edu	37	22	45297451	45297451	+	Intron	SNP	T	T	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr22:45297451T>A	ENST00000313237.5	-	6	982				PHF21B_ENST00000403565.1_Intron|PHF21B_ENST00000447824.3_Intron|RP1-127B20.4_ENST00000431036.1_RNA|PHF21B_ENST00000404079.2_Intron|PHF21B_ENST00000396103.3_Intron	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B								zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		CATTATTGAGTTCTCTTTCCC	0.433																																																	0																																										SO:0001627	intron_variant	0			AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"""Zinc fingers, PHD-type"""	25161	protein-coding gene	gene with protein product			"""PHD finger protein 4"""	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.832-5488A>T	22.37:g.45297451T>A			B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	RNA	SNP	-	NULL	ENST00000313237.5	37	NULL	CCDS14061.1	22																																																																																			RP1-127B20.4	-	-	ENSG00000223730		0.433	PHF21B-001	KNOWN	basic|CCDS	protein_coding	ENSG00000223730	Clone_based_vega_gene	protein_coding	OTTHUMT00000321731.2	-	0.00	27	0	T	NM_138415		45297451	+1	tier1	-	no_errors	ENST00000431036	ensembl	human	known	74_37	rna	50.00	14	14	SNP	0.001	A
PGM5P2	595135	genome.wustl.edu	37	9	69083037	69083037	+	lincRNA	SNP	A	A	G			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr9:69083037A>G	ENST00000412376.1	-	0	1531				PGM5P2_ENST00000591037.1_RNA																							CTAGTCCTCCAGAGCAGTTTA	0.259																																																	0																																												0																															9.37:g.69083037A>G				RNA	SNP	-	NULL	ENST00000412376.1	37	NULL		9																																																																																			RP11-87H9.3	-	-	ENSG00000231242		0.259	RP11-87H9.3-001	KNOWN	basic	lincRNA	ENSG00000231242	Clone_based_vega_gene	lincRNA	OTTHUMT00000143173.1	-	0.00	192	0	A			69083037	-1	tier1	-	no_errors	ENST00000412376	ensembl	human	known	74_37	rna	6.36	221	15	SNP	1.000	G
PBX2	5089	genome.wustl.edu	37	6	32153419	32153419	+	3'UTR	SNP	A	A	C	rs201396941|rs139100746		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr6:32153419A>C	ENST00000375050.4	-	0	2303				AGER_ENST00000375069.3_5'Flank|AGER_ENST00000438221.2_5'Flank|AGER_ENST00000375070.3_5'Flank|AGER_ENST00000375065.5_5'Flank|AGER_ENST00000375076.4_5'Flank|AGER_ENST00000538695.1_5'Flank|AGER_ENST00000375055.2_5'Flank|XXbac-BPG300A18.13_ENST00000559458.1_RNA|AGER_ENST00000375067.3_5'Flank	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2						embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						acaacaacaaaaacaacaaca	0.323																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS4748.1	6p21.32	2011-06-20	2007-01-30		ENSG00000204304	ENSG00000204304		"""Homeoboxes / TALE class"""	8633	protein-coding gene	gene with protein product		176311	"""pre-B-cell leukemia transcription factor 2"""			7835890	Standard	NM_002586		Approved	G17, HOX12, PBX2MHC	uc003oav.1	P40425	OTTHUMG00000031116	ENST00000375050.4:c.*740T>G	6.37:g.32153419A>C			A2BFJ2	RNA	SNP	-	NULL	ENST00000375050.4	37	NULL	CCDS4748.1	6																																																																																			XXbac-BPG300A18.13	-	-	ENSG00000273333		0.323	PBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000273333	Clone_based_vega_gene	protein_coding	OTTHUMT00000076194.4	-	0.00	45	0	A			32153419	-1	tier1	rs139100746	no_errors	ENST00000559458	ensembl	human	known	74_37	rna	44.07	33	26	SNP	0.000	C
ERG	2078	genome.wustl.edu	37	21	39947585	39947585	+	Splice_Site	SNP	C	C	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr21:39947585C>T	ENST00000417133.2	-	3	225		c.e3+1		ERG_ENST00000485493.1_Splice_Site|ERG_ENST00000442448.1_Splice_Site|ERG_ENST00000398911.1_Splice_Site|ERG_ENST00000398897.1_Splice_Site|ERG_ENST00000398919.2_Splice_Site|ERG_ENST00000398910.1_Splice_Site	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog						cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	ACGGGACTTACCTTGATATGA	0.512			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""																																Esophageal Squamous(130;336 1700 3010 3083 40589)			Dom	yes		21	21q22.3	2078	v-ets erythroblastosis virus E26 oncogene like (avian)		"""M, E, L"""	0													104.0	86.0	92.0					21																	39947585		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"""v-ets avian erythroblastosis virus E26 oncogene related"", ""transcriptional regulator ERG (transforming protein ERG)"", ""v-ets erythroblastosis virus E26 oncogene like"", ""TMPRSS2-ERG prostate cancer specific"""	165080	"""v-ets avian erythroblastosis virus E26 oncogene related"""			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.39+1G>A	21.37:g.39947585C>T			A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Splice_Site	SNP	-	e1+1	ENST00000417133.2	37	c.39+1	CCDS46648.1	21	.	.	.	.	.	.	.	.	.	.	C	19.56	3.851345	0.71719	.	.	ENSG00000157554	ENST00000398911;ENST00000417133;ENST00000398910;ENST00000442448;ENST00000398919	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.396	0.83605	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ERG	38869455	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	4.531000	0.60602	2.769000	0.95229	0.655000	0.94253	.	ERG	-	-	ENSG00000157554		0.512	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ERG	HGNC	protein_coding	OTTHUMT00000207532.2	-	0.00	40	0	C	NM_182918	Intron	39947585	-1	tier1	-	no_errors	ENST00000398919	ensembl	human	known	74_37	splice_site	29.17	51	21	SNP	1.000	T
EVC2	132884	genome.wustl.edu	37	4	5624468	5624468	+	Missense_Mutation	SNP	C	C	T	rs149854557		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr4:5624468C>T	ENST00000344408.5	-	14	2350	c.2297G>A	c.(2296-2298)cGt>cAt	p.R766H	EVC2_ENST00000310917.2_Missense_Mutation_p.R686H|EVC2_ENST00000344938.1_Missense_Mutation_p.R766H	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	766					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R766H(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GGGCACCCCACGCTTGAGCAG	0.647																																																	1	Substitution - Missense(1)	large_intestine(1)						C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	49.0	47.0	48.0		2057,2297	2.0	0.4	4	dbSNP_134	48	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	EVC2	NM_001166136.1,NM_147127.4	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	686/1229,766/1309	5624468	1,13005	2203	4300	6503	SO:0001583	missense	0			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.2297G>A	4.37:g.5624468C>T	ENSP00000342144:p.Arg766His		Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	pfam_Limbin	p.R766H	ENST00000344408.5	37	c.2297	CCDS3382.2	4	.	.	.	.	.	.	.	.	.	.	C	9.512	1.105964	0.20632	0.0	1.16E-4	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.74632	-0.86;-0.85;-0.86	5.32	1.95	0.26073	.	0.435130	0.24698	N	0.036337	T	0.59851	0.2224	L	0.51422	1.61	0.23568	N	0.997395	B	0.15719	0.014	B	0.08055	0.003	T	0.36504	-0.9745	10	0.15066	T	0.55	-9.7772	4.5016	0.11867	0.3113:0.4754:0.0:0.2133	.	766	Q86UK5	LBN_HUMAN	H	766;686;766	ENSP00000339954:R766H;ENSP00000311683:R686H;ENSP00000342144:R766H	ENSP00000311683:R686H	R	-	2	0	EVC2	5675369	0.676000	0.27567	0.383000	0.26132	0.377000	0.30045	1.072000	0.30678	0.504000	0.28082	0.462000	0.41574	CGT	EVC2	-	NULL	ENSG00000173040		0.647	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EVC2	HGNC	protein_coding	OTTHUMT00000289822.2		0.00	23	0	C	NM_147127		5624468	-1			no_errors	ENST00000344408	ensembl	human	known	74_37	missense	8.33	22	2	SNP	0.579	T
FAM230A	653203	genome.wustl.edu	37	22	20710913	20710913	+	Missense_Mutation	SNP	G	G	A	rs62218188		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr22:20710913G>A	ENST00000434783.3	+	8	2829	c.2645G>A	c.(2644-2646)aGg>aAg	p.R882K	USP41_ENST00000486536.2_Intron|USP41_ENST00000454608.2_Intron					family with sequence similarity 230, member A																		TCGCTAACGAGGACGCCGCCC	0.677																																																	0																																										SO:0001583	missense	0			JX456222		22q11.21	2014-08-13			ENSG00000188280	ENSG00000188280			45045	other	unknown							Standard	XM_006724099		Approved	DGCR15			OTTHUMG00000150686	ENST00000434783.3:c.2645G>A	22.37:g.20710913G>A	ENSP00000463576:p.Arg882Lys			Missense_Mutation	SNP	pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom	p.R882K	ENST00000434783.3	37	c.2645		22																																																																																			FAM230A	-	NULL	ENSG00000188280		0.677	FAM230A-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	FAM230A	HGNC	protein_coding	OTTHUMT00000319609.4	-	0.00	61	0	G			20710913	+1	tier1	rs62218188	no_errors	ENST00000434783	ensembl	human	known	74_37	missense	13.33	78	12	SNP	0.158	A
FBL	2091	genome.wustl.edu	37	19	40328462	40328462	+	Nonsense_Mutation	SNP	C	C	A	rs138238941		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr19:40328462C>A	ENST00000221801.3	-	6	684	c.571G>T	c.(571-573)Gag>Tag	p.E191*	FBL_ENST00000593503.1_5'UTR	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	191	S-adenosyl-L-methionine binding.				histone glutamine methylation (GO:1990258)|osteoblast differentiation (GO:0001649)|rRNA processing (GO:0006364)|snoRNA metabolic process (GO:0016074)|tRNA processing (GO:0008033)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone-glutamine methyltransferase activity (GO:1990259)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		TGGGAGAACTCGACTGCATAG	0.453																																																	0													113.0	88.0	96.0					19																	40328462		2203	4300	6503	SO:0001587	stop_gained	0			AC005393	CCDS12545.1	19q13.1	2010-02-17			ENSG00000105202	ENSG00000105202			3599	protein-coding gene	gene with protein product		134795				1846968, 2026646	Standard	NM_001436		Approved	RNU3IP1, FLRN, FIB	uc002omn.3	P22087		ENST00000221801.3:c.571G>T	19.37:g.40328462C>A	ENSP00000221801:p.Glu191*		B5BUE8|O75259|Q6IAT5|Q9UPI6	Nonsense_Mutation	SNP	pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin	p.E191*	ENST00000221801.3	37	c.571	CCDS12545.1	19	.	.	.	.	.	.	.	.	.	.	C	37	6.546216	0.97654	.	.	ENSG00000105202	ENST00000221801	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.03	16.5575	0.84490	0.0:1.0:0.0:0.0	.	.	.	.	X	191	.	ENSP00000221801:E191X	E	-	1	0	FBL	45020302	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.294000	0.78760	2.501000	0.84356	0.561000	0.74099	GAG	FBL	-	pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin	ENSG00000105202		0.453	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBL	HGNC	protein_coding	OTTHUMT00000462509.4	-	0.00	25	0	C	NM_001436		40328462	-1	tier1	-	no_errors	ENST00000221801	ensembl	human	known	74_37	nonsense	43.90	23	18	SNP	1.000	A
FHOD3	80206	genome.wustl.edu	37	18	34310636	34310636	+	Nonsense_Mutation	SNP	G	G	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr18:34310636G>T	ENST00000359247.4	+	16	2869	c.2869G>T	c.(2869-2871)Gag>Tag	p.E957*	FHOD3_ENST00000590592.1_Nonsense_Mutation_p.E1149*|FHOD3_ENST00000445677.1_Nonsense_Mutation_p.E936*|FHOD3_ENST00000591635.1_Nonsense_Mutation_p.E170*|FHOD3_ENST00000592128.1_5'UTR|FHOD3_ENST00000257209.4_Nonsense_Mutation_p.E974*	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	957	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				AAAAAGGCAAGAGATCATTGT	0.403																																																	0													122.0	112.0	116.0					18																	34310636		2203	4300	6503	SO:0001587	stop_gained	0			AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.2869G>T	18.37:g.34310636G>T	ENSP00000352186:p.Glu957*		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Nonsense_Mutation	SNP	pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin	p.E974*	ENST00000359247.4	37	c.2920		18	.	.	.	.	.	.	.	.	.	.	G	41	9.147705	0.99080	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	18.1936	0.89814	0.0:0.0:1.0:0.0	.	.	.	.	X	974;957;936	.	ENSP00000257209:E974X	E	+	1	0	FHOD3	32564634	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.680000	0.98651	2.629000	0.89072	0.557000	0.71058	GAG	FHOD3	-	pfam_FH2_Formin,smart_FH2_Formin	ENSG00000134775		0.403	FHOD3-001	PUTATIVE	basic	protein_coding	FHOD3	HGNC	protein_coding	OTTHUMT00000460884.1	-	0.00	62	0	G	XM_371114		34310636	+1	tier1	-	no_errors	ENST00000257209	ensembl	human	known	74_37	nonsense	7.41	50	4	SNP	1.000	T
FIBCD1	84929	genome.wustl.edu	37	9	133779538	133779538	+	Silent	SNP	G	G	A	rs371058676		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr9:133779538G>A	ENST00000372338.4	-	7	1541	c.1299C>T	c.(1297-1299)gaC>gaT	p.D433D	FIBCD1_ENST00000448616.1_Silent_p.D433D|FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000372337.2_Silent_p.D275D	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	433	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitin binding (GO:0008061)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		ACTCCACGCCGTCGGCATAGG	0.637																																																	0								G	,	0,4406		0,0,2203	107.0	94.0	99.0		1299,1299	-1.2	1.0	9		99	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	FIBCD1	NM_001145106.1,NM_032843.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	433/462,433/462	133779538	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AK027716	CCDS6937.1	9q34.2	2013-02-06			ENSG00000130720	ENSG00000130720		"""Fibrinogen C domain containing"""	25922	protein-coding gene	gene with protein product		613357				12975309	Standard	NM_001145106		Approved	FLJ14810	uc004bzz.3	Q8N539	OTTHUMG00000020814	ENST00000372338.4:c.1299C>T	9.37:g.133779538G>A			A3KFK0|Q6UXK6|Q96SJ7	Silent	SNP	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.D433	ENST00000372338.4	37	c.1299	CCDS6937.1	9																																																																																			FIBCD1	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	ENSG00000130720		0.637	FIBCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIBCD1	HGNC	protein_coding	OTTHUMT00000054687.2	-	0.00	31	0	G	NM_032843		133779538	-1	tier1	-	no_errors	ENST00000372338	ensembl	human	known	74_37	silent	17.50	33	7	SNP	1.000	A
FMN2	56776	genome.wustl.edu	37	1	240256708	240256708	+	Silent	SNP	G	G	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr1:240256708G>A	ENST00000319653.9	+	1	1529	c.1299G>A	c.(1297-1299)ccG>ccA	p.P433P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	433					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ATCACTCCCCGTCTCAGTCCC	0.672																																																	0													51.0	59.0	56.0					1																	240256708		2201	4298	6499	SO:0001819	synonymous_variant	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1299G>A	1.37:g.240256708G>A			B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.P433	ENST00000319653.9	37	c.1299	CCDS31069.2	1																																																																																			FMN2	-	NULL	ENSG00000155816		0.672	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	-	0.00	40	0	G	XM_371352		240256708	+1	tier1	-	no_errors	ENST00000319653	ensembl	human	known	74_37	silent	35.42	30	17	SNP	0.001	A
FOXO3	2309	genome.wustl.edu	37	6	108985092	108985092	+	Silent	SNP	C	C	G	rs200866771		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr6:108985092C>G	ENST00000343882.6	+	3	1360	c.1056C>G	c.(1054-1056)gcC>gcG	p.A352A	FOXO3_ENST00000406360.1_Silent_p.A352A|FOXO3_ENST00000540898.1_Silent_p.A132A	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3	352				PMLYSSSASLSPSVSKP -> AHALQHVSQPVTFSKQA (in Ref. 6; CAA04860). {ECO:0000305}.	antral ovarian follicle growth (GO:0001547)|cellular response to oxidative stress (GO:0034599)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|initiation of primordial ovarian follicle growth (GO:0001544)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|ovulation from ovarian follicle (GO:0001542)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A352A(2)		central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		GCAGCTCAGCCAGCCTGTCAC	0.572																																																	2	Substitution - coding silent(2)	upper_aerodigestive_tract(1)|prostate(1)											63.0	54.0	57.0					6																	108985092		2203	4300	6503	SO:0001819	synonymous_variant	0			AF032886	CCDS5068.1	6q21	2008-09-08	2007-05-02	2007-05-02	ENSG00000118689	ENSG00000118689		"""Forkhead boxes"""	3821	protein-coding gene	gene with protein product		602681		FKHRL1, FOXO3A		9479491	Standard	NM_001455		Approved	AF6q21, FOXO2	uc003psm.2	O43524	OTTHUMG00000015327	ENST00000343882.6:c.1056C>G	6.37:g.108985092C>G			B4DVZ6|E1P5E6|O15171|Q5T2I7|Q9BZ04	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.A352	ENST00000343882.6	37	c.1056	CCDS5068.1	6																																																																																			FOXO3	-	NULL	ENSG00000118689		0.572	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXO3	HGNC	protein_coding	OTTHUMT00000041722.2		0.00	34	0	C			108985092	+1			no_errors	ENST00000343882	ensembl	human	known	74_37	silent	10.81	33	4	SNP	0.997	G
GABRB1	2560	genome.wustl.edu	37	4	47163449	47163449	+	Silent	SNP	C	C	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr4:47163449C>A	ENST00000295454.3	+	4	716	c.424C>A	c.(424-426)Cga>Aga	p.R142R	GABRB1_ENST00000538619.1_Silent_p.R72R	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	142					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)	p.R142*(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					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)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|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)	TCGAATGATTCGACTGCATCC	0.393																																																	1	Substitution - Nonsense(1)	large_intestine(1)											154.0	142.0	146.0					4																	47163449		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.424C>A	4.37:g.47163449C>A			B2R6U7|D6REL3|Q16166|Q8TBK3	Silent	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.R142	ENST00000295454.3	37	c.424	CCDS3474.1	4																																																																																			GABRB1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000163288		0.393	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB1	HGNC	protein_coding	OTTHUMT00000216896.1		0.00	32	0	C			47163449	+1			no_errors	ENST00000295454	ensembl	human	known	74_37	silent	5.66	50	3	SNP	1.000	A
GALNT15	117248	genome.wustl.edu	37	3	16216813	16216813	+	Missense_Mutation	SNP	G	G	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr3:16216813G>T	ENST00000339732.5	+	1	658	c.155G>T	c.(154-156)aGc>aTc	p.S52I	GALNT15_ENST00000437509.1_Missense_Mutation_p.S52I	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	52					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)										AGCAAGCACAGCCCTGAAGCC	0.607																																																	0													137.0	121.0	126.0					3																	16216813		2203	4300	6503	SO:0001583	missense	0			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	ENST00000339732.5:c.155G>T	3.37:g.16216813G>T	ENSP00000344260:p.Ser52Ile		A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.S52I	ENST00000339732.5	37	c.155	CCDS33711.1	3	.	.	.	.	.	.	.	.	.	.	G	3.659	-0.069982	0.07228	.	.	ENSG00000131386	ENST00000339732;ENST00000437509	T;T	0.58358	0.57;0.34	4.29	-1.36	0.09085	.	4.299440	0.00987	N	0.003479	T	0.31857	0.0810	N	0.14661	0.345	0.09310	N	1	B	0.14438	0.01	B	0.10450	0.005	T	0.11690	-1.0577	10	0.40728	T	0.16	.	0.4525	0.00503	0.3746:0.1348:0.2348:0.2557	.	52	Q8N3T1	GLTL2_HUMAN	I	52	ENSP00000344260:S52I;ENSP00000395873:S52I	ENSP00000344260:S52I	S	+	2	0	GALNTL2	16191817	0.005000	0.15991	0.002000	0.10522	0.193000	0.23685	0.089000	0.15002	-0.158000	0.11040	0.442000	0.29010	AGC	GALNT15	-	NULL	ENSG00000131386		0.607	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT15	HGNC	protein_coding	OTTHUMT00000346483.2		0.00	46	0	G	NM_054110		16216813	+1			no_errors	ENST00000339732	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.016	T
GBA	2629	genome.wustl.edu	37	1	155207371	155207371	+	Splice_Site	SNP	T	T	C			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr1:155207371T>C	ENST00000327247.5	-	8	994		c.e8-2		GBA_ENST00000536770.1_Splice_Site|GBA_ENST00000493842.1_5'Flank|AL713999.1_ENST00000401290.1_RNA|GBA_ENST00000428024.3_Splice_Site|GBA_ENST00000368373.3_Splice_Site|GBA_ENST00000427500.3_Splice_Site	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid						carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)	glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Velaglucerase alfa(DB06720)	TCCAGGAACCTGGCAAGAGAA	0.542									Gaucher disease type I																																								0													30.0	25.0	27.0					1																	155207371		2203	4300	6503	SO:0001630	splice_region_variant	0	Familial Cancer Database	glucocerebrosidase insufficiency	M19285	CCDS1102.1, CCDS53373.1, CCDS53374.1	1q22	2010-01-19	2010-01-19		ENSG00000177628	ENSG00000177628	3.2.1.21		4177	protein-coding gene	gene with protein product		606463	"""glucosylceramidase"", ""glucosidase, beta; acid (includes glucosylceramidase)"""	GLUC		3359914	Standard	NM_001005742		Approved	GBA1	uc001fjl.3	P04062	OTTHUMG00000035841	ENST00000327247.5:c.762-2A>G	1.37:g.155207371T>C			A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	Splice_Site	SNP	-	e7-2	ENST00000327247.5	37	c.762-2	CCDS1102.1	1	.	.	.	.	.	.	.	.	.	.	.	11.42	1.634723	0.29068	.	.	ENSG00000177628	ENST00000427500;ENST00000428024;ENST00000368373;ENST00000327247;ENST00000536770;ENST00000536555;ENST00000402928	.	.	.	3.51	3.51	0.40186	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.5466	0.33426	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	GBA	153473995	1.000000	0.71417	0.958000	0.39756	0.309000	0.27889	6.825000	0.75293	1.584000	0.49913	0.260000	0.18958	.	GBA	-	-	ENSG00000177628		0.542	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GBA	HGNC	protein_coding	OTTHUMT00000087204.1		0.00	23	0	T	NM_000157	Intron	155207371	-1			no_errors	ENST00000327247	ensembl	human	known	74_37	splice_site	10.53	34	4	SNP	0.995	C
GGT7	2686	genome.wustl.edu	37	20	33447427	33447427	+	Missense_Mutation	SNP	T	T	C			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr20:33447427T>C	ENST00000336431.5	-	7	877	c.833A>G	c.(832-834)gAa>gGa	p.E278G		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	278					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TGGCAGCTGTTCAGCCAGGGC	0.692																																																	0													26.0	20.0	22.0					20																	33447427		2197	4297	6494	SO:0001583	missense	0			AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"""Gamma-glutamyltransferases"""	4259	protein-coding gene	gene with protein product		612342	"""gamma-glutamyltransferase-like 3"""	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.833A>G	20.37:g.33447427T>C	ENSP00000338964:p.Glu278Gly		Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Missense_Mutation	SNP	pfam_GGT_peptidase,prints_GGT_peptidase	p.E278G	ENST00000336431.5	37	c.833	CCDS13242.2	20	.	.	.	.	.	.	.	.	.	.	T	18.41	3.617218	0.66672	.	.	ENSG00000131067	ENST00000336431	T	0.07021	3.23	5.65	5.65	0.86999	.	0.309626	0.35525	N	0.003159	T	0.07593	0.0191	L	0.31207	0.915	0.45634	D	0.99856	B;B	0.33777	0.425;0.425	B;B	0.31812	0.136;0.089	T	0.37502	-0.9703	10	0.33940	T	0.23	-10.2397	13.6175	0.62118	0.0:0.0:0.0:1.0	.	278;278	A4FU32;Q9UJ14	.;GGT7_HUMAN	G	278	ENSP00000338964:E278G	ENSP00000338964:E278G	E	-	2	0	GGT7	32911088	0.996000	0.38824	0.800000	0.32199	0.949000	0.60115	5.661000	0.68025	2.154000	0.67381	0.459000	0.35465	GAA	GGT7	-	pfam_GGT_peptidase	ENSG00000131067		0.692	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	GGT7	HGNC	protein_coding	OTTHUMT00000078816.2	-	0.00	56	0	T	NM_178026		33447427	-1	tier1	-	no_errors	ENST00000336431	ensembl	human	novel	74_37	missense	26.42	39	14	SNP	0.801	C
GHR	2690	genome.wustl.edu	37	5	42629169	42629169	+	Missense_Mutation	SNP	T	T	C			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr5:42629169T>C	ENST00000230882.4	+	3	290	c.100T>C	c.(100-102)Tgg>Cgg	p.W34R	GHR_ENST00000537449.1_5'UTR|GHR_ENST00000357703.3_Intron	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	34					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CAGAGCACCCTGGAGTCTGCA	0.383																																																	0													100.0	108.0	105.0					5																	42629169		1826	4040	5866	SO:0001583	missense	0				CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"""Fibronectin type III domain containing"""	4263	protein-coding gene	gene with protein product	"""growth hormone binding protein"""	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.100T>C	5.37:g.42629169T>C	ENSP00000230882:p.Trp34Arg		Q9HCX2	Missense_Mutation	SNP	pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.W34R	ENST00000230882.4	37	c.100	CCDS3940.1	5	.	.	.	.	.	.	.	.	.	.	T	5.825	0.336541	0.11013	.	.	ENSG00000112964	ENST00000230882;ENST00000356276	D	0.83992	-1.79	4.21	1.18	0.20946	.	1.111380	0.06808	N	0.789852	T	0.61874	0.2382	N	0.08118	0	0.50039	D	0.999847	B	0.02656	0.0	B	0.06405	0.002	T	0.55360	-0.8153	10	0.12430	T	0.62	1.6742	2.6959	0.05135	0.1893:0.5234:0.1836:0.1036	.	34	P10912	GHR_HUMAN	R	34	ENSP00000230882:W34R	ENSP00000230882:W34R	W	+	1	0	GHR	42664926	0.003000	0.15002	0.710000	0.30468	0.719000	0.41307	0.546000	0.23284	0.272000	0.22027	-0.177000	0.13119	TGG	GHR	-	NULL	ENSG00000112964		0.383	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GHR	HGNC	protein_coding	OTTHUMT00000211605.2	-	0.00	49	0	T	NM_000163		42629169	+1	tier1	-	no_errors	ENST00000230882	ensembl	human	known	74_37	missense	63.41	15	26	SNP	0.811	C
GLRB	2743	genome.wustl.edu	37	4	158074057	158074057	+	Missense_Mutation	SNP	A	A	C			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr4:158074057A>C	ENST00000264428.4	+	9	1362	c.1092A>C	c.(1090-1092)aaA>aaC	p.K364N	GLRB_ENST00000509282.1_Missense_Mutation_p.K364N|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Intron	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	364					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	AAGCTGAAAAAGCCAGAATTG	0.448																																																	0													113.0	110.0	111.0					4																	158074057		2203	4300	6503	SO:0001583	missense	0			U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.1092A>C	4.37:g.158074057A>C	ENSP00000264428:p.Lys364Asn		A8K3K2|D3DP23|F5GWE1	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_B,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.K364N	ENST00000264428.4	37	c.1092	CCDS3796.1	4	.	.	.	.	.	.	.	.	.	.	A	18.27	3.586875	0.66105	.	.	ENSG00000109738	ENST00000264428;ENST00000509282	D;D	0.86497	-2.13;-2.13	5.32	-2.6	0.06190	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.215245	0.31381	U	0.007746	D	0.83871	0.5348	M	0.62088	1.915	0.80722	D	1	P	0.37914	0.611	B	0.40410	0.328	T	0.78663	-0.2116	10	0.62326	D	0.03	.	11.9189	0.52781	0.5575:0.0:0.4425:0.0	.	364	P48167	GLRB_HUMAN	N	364	ENSP00000264428:K364N;ENSP00000427186:K364N	ENSP00000264428:K364N	K	+	3	2	GLRB	158293507	0.998000	0.40836	0.974000	0.42286	0.989000	0.77384	0.681000	0.25320	-0.602000	0.05775	0.533000	0.62120	AAA	GLRB	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000109738		0.448	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLRB	HGNC	protein_coding	OTTHUMT00000366507.1	-	0.00	72	0	A	NM_000824		158074057	+1	tier1	-	no_errors	ENST00000264428	ensembl	human	known	74_37	missense	31.76	58	27	SNP	0.997	C
GRIA1	2890	genome.wustl.edu	37	5	153078473	153078473	+	Missense_Mutation	SNP	G	G	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr5:153078473G>A	ENST00000285900.5	+	10	1635	c.1292G>A	c.(1291-1293)gGc>gAc	p.G431D	GRIA1_ENST00000518783.1_Missense_Mutation_p.G441D|GRIA1_ENST00000340592.5_Missense_Mutation_p.G431D|GRIA1_ENST00000521843.2_Missense_Mutation_p.G362D|GRIA1_ENST00000448073.4_Missense_Mutation_p.G441D|GRIA1_ENST00000518142.1_Missense_Mutation_p.G351D	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	431					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.G431D(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CAGTTTGAGGGCAATGACCGT	0.502																																																	1	Substitution - Missense(1)	large_intestine(1)											137.0	118.0	125.0					5																	153078473		2203	4300	6503	SO:0001583	missense	0				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1292G>A	5.37:g.153078473G>A	ENSP00000285900:p.Gly431Asp		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.G441D	ENST00000285900.5	37	c.1322	CCDS4322.1	5	.	.	.	.	.	.	.	.	.	.	G	32	5.165560	0.94768	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.79940	1.04;1.04;-1.32;1.04;1.04;1.04;-1.32	5.25	5.25	0.73442	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.89364	0.6694	M	0.74467	2.265	0.80722	D	1	D;D;P;D;D;P	0.56287	0.975;0.975;0.947;0.975;0.968;0.525	P;P;D;P;P;B	0.71184	0.867;0.867;0.972;0.867;0.733;0.33	D	0.89968	0.4091	10	0.59425	D	0.04	.	17.8952	0.88886	0.0:0.0:1.0:0.0	.	441;441;351;441;431;431	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	D	431;431;351;385;431;362;362;441;441	ENSP00000285900:G431D;ENSP00000427920:G351D;ENSP00000339343:G431D;ENSP00000427864:G362D;ENSP00000442108:G362D;ENSP00000428994:G441D;ENSP00000415569:G441D	ENSP00000285900:G431D	G	+	2	0	GRIA1	153058666	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.784000	0.85713	2.473000	0.83533	0.650000	0.86243	GGC	GRIA1	-	pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd	ENSG00000155511		0.502	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA1	HGNC	protein_coding	OTTHUMT00000252456.3		0.00	53	0	G			153078473	+1			no_errors	ENST00000448073	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	A
GRIA3	2892	genome.wustl.edu	37	X	122536894	122536894	+	Missense_Mutation	SNP	G	G	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chrX:122536894G>A	ENST00000371251.1	+	8	1182	c.1130G>A	c.(1129-1131)cGt>cAt	p.R377H	GRIA3_ENST00000264357.5_Missense_Mutation_p.R377H|GRIA3_ENST00000542149.1_Missense_Mutation_p.R377H|GRIA3_ENST00000371256.5_Missense_Mutation_p.R377H|GRIA3_ENST00000541091.1_Missense_Mutation_p.R361H			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	377					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	ACTTATGGACGTAGGACAAAT	0.343																																																	0													153.0	152.0	152.0					X																	122536894		2203	4299	6502	SO:0001583	missense	0			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.1130G>A	X.37:g.122536894G>A	ENSP00000360297:p.Arg377His		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.R377H	ENST00000371251.1	37	c.1130	CCDS14604.1	X	.	.	.	.	.	.	.	.	.	.	G	16.65	3.182551	0.57800	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95	5.7	5.7	0.88788	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.88669	0.6499	L	0.31926	0.97	0.80722	D	1	P;D;D	0.89917	0.538;1.0;1.0	B;D;D	0.81914	0.222;0.995;0.991	D	0.88612	0.3157	10	0.45353	T	0.12	.	17.6583	0.88184	0.0:0.0:1.0:0.0	.	361;377;377	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	H	377;377;377;377;361	ENSP00000264357:R377H;ENSP00000446146:R377H;ENSP00000360302:R377H;ENSP00000360297:R377H;ENSP00000446440:R361H	ENSP00000264357:R377H	R	+	2	0	GRIA3	122364575	1.000000	0.71417	0.997000	0.53966	0.734000	0.41952	7.647000	0.83462	2.387000	0.81309	0.594000	0.82650	CGT	GRIA3	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000125675		0.343	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA3	HGNC	protein_coding	OTTHUMT00000058854.1	-	0.00	91	0	G	NM_000828		122536894	+1	tier1	-	no_errors	ENST00000264357	ensembl	human	known	74_37	missense	75.19	33	100	SNP	1.000	A
GRIK4	2900	genome.wustl.edu	37	11	120776197	120776197	+	Missense_Mutation	SNP	G	G	A	rs137989709		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr11:120776197G>A	ENST00000527524.2	+	13	1758	c.1471G>A	c.(1471-1473)Gct>Act	p.A491T	GRIK4_ENST00000438375.2_Missense_Mutation_p.A491T	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	491					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		GGAGCTGATCGCTAGGGTAAG	0.592																																																	0								G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	71.0	71.0	71.0		1471	3.3	1.0	11	dbSNP_134	71	0,8598		0,0,4299	no	missense	GRIK4	NM_014619.2	58	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign	491/957	120776197	1,13003	2203	4299	6502	SO:0001583	missense	0			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1471G>A	11.37:g.120776197G>A	ENSP00000435648:p.Ala491Thr		A8K9L1	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.A491T	ENST00000527524.2	37	c.1471	CCDS8433.1	11	.	.	.	.	.	.	.	.	.	.	G	14.82	2.649457	0.47362	2.27E-4	0.0	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.11604	2.76;2.76	5.33	3.28	0.37604	Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.205021	0.43919	D	0.000513	T	0.07007	0.0178	N	0.11560	0.145	0.23150	N	0.998213	B;B	0.15719	0.003;0.014	B;B	0.19391	0.025;0.025	T	0.30060	-0.9991	10	0.54805	T	0.06	.	13.0692	0.59050	0.0:0.0:0.5117:0.4883	.	491;491	A6H8K8;Q16099	.;GRIK4_HUMAN	T	491	ENSP00000435648:A491T;ENSP00000404063:A491T	ENSP00000404063:A491T	A	+	1	0	GRIK4	120281407	0.182000	0.23173	0.991000	0.47740	0.996000	0.88848	0.773000	0.26661	0.442000	0.26555	0.655000	0.94253	GCT	GRIK4	-	pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd	ENSG00000149403		0.592	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK4	HGNC	protein_coding	OTTHUMT00000109760.4	-	0.00	15	0	G	NM_014619		120776197	+1	tier1	rs137989709	no_errors	ENST00000527524	ensembl	human	known	74_37	missense	34.78	15	8	SNP	0.353	A
GTF3C5	9328	genome.wustl.edu	37	9	135933335	135933335	+	Missense_Mutation	SNP	G	G	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr9:135933335G>A	ENST00000372097.5	+	11	1851	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K	GTF3C5_ENST00000372108.5_Missense_Mutation_p.E517K|GTF3C5_ENST00000342018.8_Missense_Mutation_p.E448K|GTF3C5_ENST00000372099.6_Missense_Mutation_p.E501K	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	510	Glu-rich.				5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		CAGTGAAAACGAAATGGAGAC	0.592																																																	0													116.0	98.0	104.0					9																	135933335		2203	4300	6503	SO:0001583	missense	0			AF133124	CCDS6958.1, CCDS48050.1, CCDS75927.1	9q34.13	2010-03-23	2002-08-29		ENSG00000148308	ENSG00000148308		"""General transcription factors"""	4668	protein-coding gene	gene with protein product	"""transcription factor IIIC, 63 kD"""	604890	"""general transcription factor IIIC, polypeptide 5 (63kD)"""			10373544	Standard	NM_012087		Approved	TFiiiC2-63, TFIIIC63, TFIIICepsilon	uc004ccj.4	Q9Y5Q8	OTTHUMG00000020856	ENST00000372097.5:c.1528G>A	9.37:g.135933335G>A	ENSP00000361169:p.Glu510Lys		A6NI44|A6NJB9|Q5T7U2|Q5T7U3|Q8N2U7|Q8N857|Q96GD9|Q9H4P2	Missense_Mutation	SNP	pfam_TF_IIIC_su-5	p.E517K	ENST00000372097.5	37	c.1549	CCDS6958.1	9	.	.	.	.	.	.	.	.	.	.	G	34	5.400683	0.96030	.	.	ENSG00000148308	ENST00000372097;ENST00000372099;ENST00000372108;ENST00000342018	T;T;T;T	0.51071	0.81;0.8;0.81;0.72	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.70824	0.3268	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.74565	-0.3623	10	0.72032	D	0.01	-11.6793	17.9727	0.89118	0.0:0.0:1.0:0.0	.	517;510	Q9Y5Q8-3;Q9Y5Q8	.;TF3C5_HUMAN	K	510;501;517;448	ENSP00000361169:E510K;ENSP00000361171:E501K;ENSP00000361180:E517K;ENSP00000339530:E448K	ENSP00000339530:E448K	E	+	1	0	GTF3C5	134923156	1.000000	0.71417	0.952000	0.39060	0.801000	0.45260	9.685000	0.98661	2.484000	0.83849	0.491000	0.48974	GAA	GTF3C5	-	NULL	ENSG00000148308		0.592	GTF3C5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C5	HGNC	protein_coding	OTTHUMT00000054826.1	-	0.00	17	0	G	NM_001122823		135933335	+1	tier1	-	no_errors	ENST00000372108	ensembl	human	known	74_37	missense	61.54	5	8	SNP	1.000	A
HMGB1P5	10354	genome.wustl.edu	37	3	22424293	22424293	+	RNA	SNP	C	C	G	rs141464414	byFrequency	TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr3:22424293C>G	ENST00000451497.1	+	0	858									high mobility group box 1 pseudogene 5																		GCAGCTTATACGAAATAATTG	0.333																																																	0																																												0			AF076677		3p24	2011-09-21	2011-04-05	2010-10-15	ENSG00000132967	ENSG00000132967		"""High mobility group / HMG-box pseudogenes"""	4997	pseudogene	pseudogene			"""high-mobility group (nonhistone chromosomal) protein 1-like 5"", ""high-mobility group (nonhistone chromosomal) protein 1-like 5 pseudogene"", ""high-mobility group box 1-like 5 pseudogene"", ""high-mobility group box 1-like 15"", ""high-mobility group box 1 pseudogene 2"", ""high-mobility group box 1-like 5"", ""high-mobility group box 1 pseudogene 5"""	HMG1L5, HMGB1L15, HMGB1P2, HMGB1L5		9925949	Standard	NG_000897		Approved				OTTHUMG00000155591		3.37:g.22424293C>G				RNA	SNP	-	NULL	ENST00000451497.1	37	NULL		3																																																																																			HMGB1P5	-	-	ENSG00000132967		0.333	HMGB1P5-002	KNOWN	basic	processed_transcript	HMGB1P5	HGNC	pseudogene	OTTHUMT00000340803.1		0.00	32	0	C	NG_000897		22424293	+1			no_errors	ENST00000451497	ensembl	human	known	74_37	rna	18.92	30	7	SNP	0.996	G
HNRNPKP3	399881	genome.wustl.edu	37	11	43283424	43283424	+	RNA	SNP	C	C	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr11:43283424C>T	ENST00000511537.1	-	0	1511					NR_033868.1				heterogeneous nuclear ribonucleoprotein K pseudogene 3																		AAAAAATCCGCTCATTCTACT	0.368																																																	0																																												0					11p12	2011-07-05				ENSG00000251557			42376	pseudogene	pseudogene							Standard	NR_033868		Approved		uc001mxe.2				11.37:g.43283424C>T				RNA	SNP	-	NULL	ENST00000511537.1	37	NULL		11																																																																																			HNRNPKP3	-	-	ENSG00000251557		0.368	HNRNPKP3-003	KNOWN	basic	processed_transcript	HNRNPKP3	HGNC	pseudogene	OTTHUMT00000390385.1	-	0.00	19	0	C	NR_033868		43283424	-1	tier1	-	no_errors	ENST00000511537	ensembl	human	known	74_37	rna	32.00	15	8	SNP	0.992	T
HS3ST1	9957	genome.wustl.edu	37	4	11401465	11401465	+	Silent	SNP	C	C	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr4:11401465C>T	ENST00000002596.5	-	2	1339	c.165G>A	c.(163-165)ccG>ccA	p.P55P		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	55					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						TGATGGTCTGCGGCAACTGCT	0.692																																																	0													32.0	29.0	30.0					4																	11401465		2202	4298	6500	SO:0001819	synonymous_variant	0			AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5194	protein-coding gene	gene with protein product		603244				9988767	Standard	NM_005114		Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.165G>A	4.37:g.11401465C>T			B3KUA6|Q6PEY8	Silent	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.P55	ENST00000002596.5	37	c.165	CCDS3408.1	4																																																																																			HS3ST1	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000002587		0.692	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST1	HGNC	protein_coding	OTTHUMT00000207073.3	-	0.00	21	0	C	NM_005114		11401465	-1	tier1	-	no_errors	ENST00000002596	ensembl	human	known	74_37	silent	21.74	36	10	SNP	0.621	T
HSPB11	51668	genome.wustl.edu	37	1	54387359	54387359	+	Missense_Mutation	SNP	C	C	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr1:54387359C>T	ENST00000194214.5	-	6	789	c.400G>A	c.(400-402)Gca>Aca	p.A134T	HSPB11_ENST00000489675.1_5'UTR|HSPB11_ENST00000371378.2_Intron	NM_016126.2	NP_057210.2	Q9Y547	IFT25_HUMAN	heat shock protein family B (small), member 11	134					cell adhesion (GO:0007155)|heart development (GO:0007507)|left/right axis specification (GO:0070986)|lung development (GO:0030324)|protein transport (GO:0015031)|response to stress (GO:0006950)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle B (GO:0030992)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	9						GTTCCTTCTGCAGAAACGCTA	0.348																																																	0													120.0	111.0	113.0					1																	54387359		1866	4115	5981	SO:0001583	missense	0			AF100747	CCDS41341.1	1p32	2014-02-21	2008-06-24	2008-06-24	ENSG00000081870	ENSG00000081870		"""Intraflagellar transport homologs"", ""Heat shock proteins / HSPB"""	25019	protein-coding gene	gene with protein product	"""intraflagellar transport 25 homolog (Chlamydomonas)"""		"""chromosome 1 open reading frame 41"""	C1orf41		11042152, 19253336	Standard	NM_016126		Approved	HSPCO34, PP25, IFT25	uc001cwh.3	Q9Y547	OTTHUMG00000008408	ENST00000194214.5:c.400G>A	1.37:g.54387359C>T	ENSP00000194214:p.Ala134Thr		A6NG57|D3DQ45|Q9Y684	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like	p.A134T	ENST00000194214.5	37	c.400	CCDS41341.1	1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.647011	0.47258	.	.	ENSG00000081870	ENST00000194214;ENST00000371378	T;T	0.81163	-1.46;-1.46	5.27	4.15	0.48705	Galactose-binding domain-like (1);	0.251014	0.38436	N	0.001691	T	0.73273	0.3566	L	0.46157	1.445	0.80722	D	1	P	0.35456	0.502	B	0.35813	0.211	T	0.74925	-0.3498	10	0.54805	T	0.06	-9.732	9.6674	0.39992	0.0:0.8884:0.0:0.1116	.	134	Q9Y547	HSB11_HUMAN	T	134	ENSP00000194214:A134T;ENSP00000360429:A134T	ENSP00000194214:A134T	A	-	1	0	HSPB11	54159947	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	2.821000	0.48065	2.478000	0.83669	0.655000	0.94253	GCA	HSPB11	-	superfamily_Galactose-bd-like	ENSG00000081870		0.348	HSPB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPB11	HGNC	protein_coding	OTTHUMT00000023114.1	-	0.00	58	0	C	NM_016126		54387359	-1	tier1	-	no_errors	ENST00000194214	ensembl	human	known	74_37	missense	43.24	42	32	SNP	0.998	T
HTR7	3363	genome.wustl.edu	37	10	92508753	92508753	+	Missense_Mutation	SNP	T	T	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr10:92508753T>A	ENST00000336152.3	-	2	1164	c.1138A>T	c.(1138-1140)Aac>Tac	p.N380Y	HTR7_ENST00000371719.2_Missense_Mutation_p.N380Y|HTR7_ENST00000371721.3_Missense_Mutation_p.N380Y|HTR7_ENST00000277874.6_Missense_Mutation_p.N380Y	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	380					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	ATAAAAGGGTTAATGAGAGAG	0.537																																																	0													136.0	140.0	138.0					10																	92508753		2203	4300	6503	SO:0001583	missense	0			BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5302	protein-coding gene	gene with protein product		182137	"""5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"""			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.1138A>T	10.37:g.92508753T>A	ENSP00000337949:p.Asn380Tyr		B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT_7_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt	p.N380Y	ENST00000336152.3	37	c.1138	CCDS7408.1	10	.	.	.	.	.	.	.	.	.	.	T	22.6	4.310982	0.81358	.	.	ENSG00000148680	ENST00000336152;ENST00000277874;ENST00000371719;ENST00000371721	D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02	5.53	5.53	0.82687	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.95076	0.8405	H	0.96777	3.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.96701	0.9518	10	0.87932	D	0	.	15.6513	0.77095	0.0:0.0:0.0:1.0	.	380;380	P34969;P34969-2	5HT7R_HUMAN;.	Y	380	ENSP00000337949:N380Y;ENSP00000277874:N380Y;ENSP00000360784:N380Y;ENSP00000360786:N380Y	ENSP00000277874:N380Y	N	-	1	0	HTR7	92498733	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.036000	0.88901	2.095000	0.63458	0.528000	0.53228	AAC	HTR7	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt	ENSG00000148680		0.537	HTR7-001	KNOWN	basic|CCDS	protein_coding	HTR7	HGNC	protein_coding	OTTHUMT00000049343.1	-	0.00	55	0	T	NM_000872		92508753	-1	tier1	-	no_errors	ENST00000336152	ensembl	human	known	74_37	missense	39.44	43	28	SNP	1.000	A
IFFO1	25900	genome.wustl.edu	37	12	6664974	6664974	+	Missense_Mutation	SNP	G	G	C			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr12:6664974G>C	ENST00000396840.2	-	1	263	c.222C>G	c.(220-222)atC>atG	p.I74M	IFFO1_ENST00000356896.4_Missense_Mutation_p.I74M|IFFO1_ENST00000336604.4_Missense_Mutation_p.I74M|NOP2_ENST00000542015.1_5'Flank			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	74						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						TGAGCACGTTGATGTTGGAGC	0.697																																																	0													51.0	54.0	53.0					12																	6664974		2203	4300	6503	SO:0001583	missense	0			AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"""Intermediate filament family orphans"""	24970	protein-coding gene	gene with protein product		610495	"""intermediate filament family orphan"""	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.222C>G	12.37:g.6664974G>C	ENSP00000380052:p.Ile74Met		Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Missense_Mutation	SNP	NULL	p.I74M	ENST00000396840.2	37	c.222		12	.	.	.	.	.	.	.	.	.	.	G	21.0	4.085009	0.76642	.	.	ENSG00000010295	ENST00000336604;ENST00000396840;ENST00000356896	T;T;T	0.51817	0.69;0.69;0.69	4.22	4.22	0.49857	.	0.775904	0.10450	U	0.673202	T	0.66015	0.2747	L	0.55990	1.75	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.80764	0.994;0.994;0.994;0.994	T	0.64901	-0.6298	10	0.87932	D	0	-20.3315	15.5044	0.75725	0.0:0.0:1.0:0.0	.	74;74;74;74	Q0D2I5-7;Q0D2I5-4;Q0D2I5;Q0D2I5-5	.;.;IFFO1_HUMAN;.	M	74	ENSP00000337593:I74M;ENSP00000380052:I74M;ENSP00000349364:I74M	ENSP00000337593:I74M	I	-	3	3	IFFO1	6535235	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.556000	0.73932	2.172000	0.68678	0.561000	0.74099	ATC	IFFO1	-	NULL	ENSG00000010295		0.697	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	IFFO1	HGNC	protein_coding	OTTHUMT00000280428.1	-	0.00	25	0	G	NM_080730		6664974	-1	tier1	-	no_errors	ENST00000356896	ensembl	human	known	74_37	missense	65.00	7	13	SNP	1.000	C
IFI16	3428	genome.wustl.edu	37	1	158985745	158985745	+	Missense_Mutation	SNP	A	A	C			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr1:158985745A>C	ENST00000295809.7	+	3	604	c.349A>C	c.(349-351)Act>Cct	p.T117P	IFI16_ENST00000359709.3_Missense_Mutation_p.T117P|IFI16_ENST00000368132.3_Missense_Mutation_p.T117P|IFI16_ENST00000340979.6_Missense_Mutation_p.T117P|IFI16_ENST00000448393.2_Missense_Mutation_p.T117P|IFI16_ENST00000430894.2_Missense_Mutation_p.T121P|IFI16_ENST00000368131.4_Missense_Mutation_p.T117P			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	117	Lys-rich.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					CACTGTCAAAACTGAAGGAGC	0.502																																																	0													76.0	69.0	72.0					1																	158985745		2203	4300	6503	SO:0001583	missense	0			M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.349A>C	1.37:g.158985745A>C	ENSP00000295809:p.Thr117Pro		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x	p.T117P	ENST00000295809.7	37	c.349		1	.	.	.	.	.	.	.	.	.	.	.	8.844	0.942951	0.18281	.	.	ENSG00000163565	ENST00000359709;ENST00000426592;ENST00000447473;ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	T;T;T;T;T;T;T;T	0.23552	3.61;1.9;2.18;3.55;3.57;3.56;3.56;3.6	2.17	-4.33	0.03677	.	.	.	.	.	T	0.06325	0.0163	M	0.68952	2.095	0.09310	N	1	B;B;B	0.14805	0.008;0.011;0.004	B;B;B	0.10450	0.005;0.005;0.001	T	0.23940	-1.0174	9	0.37606	T	0.19	.	1.1166	0.01715	0.2008:0.1356:0.1276:0.536	.	121;117;117	E7EPR3;Q16666-2;Q16666	.;.;IF16_HUMAN	P	117;117;117;117;117;117;117;121	ENSP00000352740:T117P;ENSP00000406406:T117P;ENSP00000407052:T117P;ENSP00000295809:T117P;ENSP00000342741:T117P;ENSP00000357113:T117P;ENSP00000357114:T117P;ENSP00000394935:T121P	ENSP00000295809:T117P	T	+	1	0	IFI16	157252369	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.245000	0.01192	-2.858000	0.00328	-0.609000	0.04063	ACT	IFI16	-	NULL	ENSG00000163565		0.502	IFI16-013	KNOWN	basic	protein_coding	IFI16	HGNC	protein_coding	OTTHUMT00000421720.1	-	0.00	22	0	A	NM_005531		158985745	+1	tier1	-	no_errors	ENST00000295809	ensembl	human	known	74_37	missense	41.94	18	13	SNP	0.000	C
ITSN2	50618	genome.wustl.edu	37	2	24427241	24427241	+	Nonsense_Mutation	SNP	G	G	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr2:24427241G>T	ENST00000355123.4	-	39	5252	c.4809C>A	c.(4807-4809)taC>taA	p.Y1603*	ITSN2_ENST00000361999.3_Nonsense_Mutation_p.Y1576*|AC008073.9_ENST00000429717.1_RNA	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1603	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTGGTGGTGTAGCTCTGGG	0.473																																																	0													163.0	154.0	157.0					2																	24427241		2203	4300	6503	SO:0001587	stop_gained	0			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.4809C>A	2.37:g.24427241G>T	ENSP00000347244:p.Tyr1603*		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Nonsense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox	p.Y1603*	ENST00000355123.4	37	c.4809	CCDS1710.2	2	.	.	.	.	.	.	.	.	.	.	G	46	12.203115	0.99646	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868	.	.	.	5.06	1.05	0.20165	.	0.000000	0.34200	U	0.004163	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	8.7806	0.34789	0.4057:0.0:0.5943:0.0	.	.	.	.	X	1576;1603;1576	.	ENSP00000347244:Y1603X	Y	-	3	2	ITSN2	24280745	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	0.727000	0.25999	-0.021000	0.14009	0.655000	0.94253	TAC	ITSN2	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000198399		0.473	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ITSN2	HGNC	protein_coding	OTTHUMT00000207620.2	-	0.00	47	0	G	NM_006277		24427241	-1	tier1	-	no_errors	ENST00000355123	ensembl	human	known	74_37	nonsense	7.14	52	4	SNP	1.000	T
IZUMO3	100129669	genome.wustl.edu	37	9	24544218	24544218	+	Silent	SNP	G	G	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr9:24544218G>A	ENST00000543880.2	-	5	702	c.471C>T	c.(469-471)ttC>ttT	p.F157F	IZUMO3_ENST00000604921.1_Silent_p.F151F|RP11-20A20.2_ENST00000602851.1_lincRNA			Q5VZ72	IZUM3_HUMAN	IZUMO family member 3	157						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)										ATTCTCCTTTGAAGCACCTGT	0.408																																																	0																																										SO:0001819	synonymous_variant	0				CCDS65020.1	9p21.3	2014-02-17	2010-07-29	2010-07-29	ENSG00000205442	ENSG00000205442		"""-"""	31421	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 134"""	C9orf134		19658160, 22957301	Standard	NM_001271706		Approved	bA20A20.1	uc031tdg.1	Q5VZ72	OTTHUMG00000019704	ENST00000543880.2:c.471C>T	9.37:g.24544218G>A				Silent	SNP	NULL	p.F157	ENST00000543880.2	37	c.471		9	.	.	.	.	.	.	.	.	.	.	G	8.818	0.936791	0.18206	.	.	ENSG00000205442	ENST00000412335	.	.	.	5.44	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.551	9.7404	0.40416	0.092:0.0:0.908:0.0	.	.	.	.	X	90	.	.	Q	-	1	0	IZUMO3	24534218	1.000000	0.71417	0.988000	0.46212	0.945000	0.59286	2.775000	0.47702	1.525000	0.49052	0.650000	0.86243	CAA	IZUMO3	-	NULL	ENSG00000205442		0.408	IZUMO3-001	NOVEL	not_organism_supported|basic	protein_coding	IZUMO3	HGNC	protein_coding	OTTHUMT00000467652.1	-	0.00	55	0	G	NM_001271706		24544218	-1	tier1	-	no_errors	ENST00000543880	ensembl	human	novel	74_37	silent	42.55	27	20	SNP	0.997	A
JAKMIP3	282973	genome.wustl.edu	37	10	133948604	133948604	+	Missense_Mutation	SNP	T	T	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr10:133948604T>A	ENST00000298622.4	+	4	1047	c.909T>A	c.(907-909)agT>agA	p.S303R		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	303						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CGGAGTTAAGTGCGATTATCC	0.522																																																	0													67.0	68.0	68.0					10																	133948604		1878	4094	5972	SO:0001583	missense	0			AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.909T>A	10.37:g.133948604T>A	ENSP00000298622:p.Ser303Arg		A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP	NULL	p.S303R	ENST00000298622.4	37	c.909	CCDS44494.1	10	.	.	.	.	.	.	.	.	.	.	T	13.03	2.116385	0.37339	.	.	ENSG00000188385	ENST00000298622	T	0.24908	1.83	4.2	-2.01	0.07410	.	0.000000	0.85682	D	0.000000	T	0.36963	0.0986	L	0.53249	1.67	0.36818	D	0.88623	D	0.89917	1.0	D	0.85130	0.997	T	0.31223	-0.9951	10	0.21014	T	0.42	-13.2351	10.9243	0.47182	0.0:0.4362:0.0:0.5638	.	303	Q5VZ66	JKIP3_HUMAN	R	303	ENSP00000298622:S303R	ENSP00000298622:S303R	S	+	3	2	JAKMIP3	133798594	0.007000	0.16637	0.314000	0.25224	0.080000	0.17528	-1.163000	0.03138	-0.281000	0.09141	-0.297000	0.09499	AGT	JAKMIP3	-	NULL	ENSG00000188385		0.522	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	JAKMIP3	HGNC	protein_coding	OTTHUMT00000051049.3	-	0.00	74	0	T	NM_194303		133948604	+1	tier1	-	no_errors	ENST00000298622	ensembl	human	known	74_37	missense	35.34	74	41	SNP	0.962	A
KAT8	84148	genome.wustl.edu	37	16	31131726	31131726	+	Missense_Mutation	SNP	C	C	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr16:31131726C>T	ENST00000543774.2	+	4	688	c.353C>T	c.(352-354)gCt>gTt	p.A118V	RP11-196G11.4_ENST00000576336.1_RNA|KAT8_ENST00000448516.2_Missense_Mutation_p.A118V|KAT8_ENST00000219797.4_Missense_Mutation_p.A118V			Q9H7Z6	KAT8_HUMAN	K(lysine) acetyltransferase 8	118	Chromo.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|myeloid cell differentiation (GO:0030099)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	histone acetyltransferase complex (GO:0000123)|kinetochore (GO:0000776)|MLL1 complex (GO:0071339)|MSL complex (GO:0072487)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|transcription factor binding (GO:0008134)										GTGAAGGATGCTGTACAGAAG	0.547																																																	0													64.0	59.0	61.0					16																	31131726		2197	4300	6497	SO:0001583	missense	0			AF217501	CCDS10706.1, CCDS45468.1	16p11.1	2013-01-10	2011-07-21	2011-07-21	ENSG00000103510	ENSG00000103510	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17933	protein-coding gene	gene with protein product		609912	"""MYST histone acetyltransferase 1"""	MYST1		10786633	Standard	NM_032188		Approved	MOF, FLJ14040, hMOF, ZC2HC8	uc002eax.3	Q9H7Z6	OTTHUMG00000132410	ENST00000543774.2:c.353C>T	16.37:g.31131726C>T	ENSP00000456933:p.Ala118Val		A8K4Z1|G5E9P2|Q659G0|Q7LC17|Q8IY59|Q8WYB4|Q8WZ14|Q9HAC5|Q9NR35	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow	p.A118V	ENST00000543774.2	37	c.353	CCDS10706.1	16	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097484	0.76870	.	.	ENSG00000103510	ENST00000219797;ENST00000448516	T;T	0.41400	1.0;1.0	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.40398	0.1115	L	0.50333	1.59	0.80722	D	1	B;B	0.27594	0.03;0.182	B;B	0.21917	0.017;0.037	T	0.12066	-1.0562	10	0.22706	T	0.39	-16.3571	19.4154	0.94694	0.0:1.0:0.0:0.0	.	118;118	Q9H7Z6;G5E9P2	KAT8_HUMAN;.	V	118	ENSP00000219797:A118V;ENSP00000406037:A118V	ENSP00000219797:A118V	A	+	2	0	KAT8	31039227	1.000000	0.71417	0.984000	0.44739	0.958000	0.62258	7.284000	0.78650	2.884000	0.98904	0.655000	0.94253	GCT	KAT8	-	superfamily_Chromodomain-like,smart_Chromo_domain/shadow	ENSG00000103510		0.547	KAT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	KAT8	HGNC	protein_coding	OTTHUMT00000255546.3	-	0.00	35	0	C	NM_032188		31131726	+1	tier1	-	no_errors	ENST00000448516	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	T
KCNA2	3737	genome.wustl.edu	37	1	111144720	111144720	+	3'UTR	SNP	A	A	G			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr1:111144720A>G	ENST00000485317.1	-	0	3358				KCNA2_ENST00000525120.1_5'Flank|KCNA2_ENST00000369770.3_Silent_p.L323L			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2						optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	TTAATTCCTAAGGTGCAGTCA	0.498																																					Pancreas(18;568 735 10587 23710 36357)												0																																										SO:0001624	3_prime_UTR_variant	0			L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.*1185T>C	1.37:g.111144720A>G			Q86XG6	Silent	SNP	pfam_T1-type_BTB,pfam_Ion_trans_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.2,prints_K_chnl_volt-dep_Kv1.3	p.L323	ENST00000485317.1	37	c.967	CCDS827.1	1																																																																																			KCNA2	-	NULL	ENSG00000177301		0.498	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KCNA2	HGNC	protein_coding	OTTHUMT00000128001.2	-	0.00	32	0	A	NM_004974		111144720	-1	tier1	-	no_errors	ENST00000369770	ensembl	human	putative	74_37	silent	37.21	27	16	SNP	1.000	G
KCNH5	27133	genome.wustl.edu	37	14	63473102	63473102	+	Missense_Mutation	SNP	G	G	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr14:63473102G>T	ENST00000322893.7	-	3	554	c.286C>A	c.(286-288)Ctt>Att	p.L96I	KCNH5_ENST00000420622.2_Missense_Mutation_p.L96I|KCNH5_ENST00000394964.2_Missense_Mutation_p.L38I|KCNH5_ENST00000394968.1_Missense_Mutation_p.L38I	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	96	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTGTACAGAAGAACTTCAAAG	0.353																																																	0													94.0	92.0	92.0					14																	63473102		2202	4299	6501	SO:0001583	missense	0			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.286C>A	14.37:g.63473102G>T	ENSP00000321427:p.Leu96Ile		C9JP98	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS	p.L96I	ENST00000322893.7	37	c.286	CCDS9756.1	14	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276998	0.59758	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	5.35	5.35	0.76521	PAS-associated, C-terminal (1);PAS (1);PAS fold (1);	0.000000	0.85682	D	0.000000	D	0.82811	0.5118	L	0.49640	1.575	0.80722	D	1	P;B;P;D	0.54601	0.756;0.296;0.55;0.967	P;B;B;P	0.58391	0.53;0.259;0.259;0.838	T	0.78388	-0.2223	10	0.22109	T	0.4	.	19.4335	0.94781	0.0:0.0:1.0:0.0	.	38;38;96;96	Q86XI1;Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;.;KCNH5_HUMAN	I	96;96;38;38	ENSP00000321427:L96I;ENSP00000395439:L96I;ENSP00000378419:L38I;ENSP00000378415:L38I	ENSP00000321427:L96I	L	-	1	0	KCNH5	62542855	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.930000	0.87610	2.655000	0.90218	0.655000	0.94253	CTT	KCNH5	-	pfam_PAS_fold,superfamily_PAS,smart_PAC,pfscan_PAS-assoc_C,tigrfam_PAS	ENSG00000140015		0.353	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH5	HGNC	protein_coding	OTTHUMT00000411747.1		0.00	45	0	G	NM_139318		63473102	-1			no_errors	ENST00000322893	ensembl	human	known	74_37	missense	5.45	52	3	SNP	1.000	T
KCNMB2	10242	genome.wustl.edu	37	3	178560673	178560673	+	Missense_Mutation	SNP	T	T	G			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr3:178560673T>G	ENST00000432997.1	+	5	1008	c.656T>G	c.(655-657)cTt>cGt	p.L219R	KCNMB2_ENST00000358316.3_Missense_Mutation_p.L219R|RP11-385J1.2_ENST00000451742.1_RNA|RP11-385J1.2_ENST00000425330.1_RNA|RP11-385J1.2_ENST00000432385.1_RNA|KCNMB2_ENST00000420517.2_Missense_Mutation_p.L219R|RP11-385J1.2_ENST00000437488.1_RNA|KCNMB2_ENST00000452583.1_Missense_Mutation_p.L219R	NM_001278911.1	NP_001265840.1	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	233					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)		Miconazole(DB01110)|Procaine(DB00721)	ATGGTGAAACTTACACAGTAC	0.398																																																	0													87.0	85.0	86.0					3																	178560673		2203	4299	6502	SO:0001583	missense	0			AF099137	CCDS3223.1	3q26.32	2005-10-13			ENSG00000197584	ENSG00000197584		"""Potassium channels"""	6286	protein-coding gene	gene with protein product		605214				10097176	Standard	NM_181361		Approved		uc003fjd.3	Q9Y691	OTTHUMG00000157264	ENST00000432997.1:c.656T>G	3.37:g.178560673T>G	ENSP00000407592:p.Leu219Arg		B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_bsu,pfam_KCNMB2_ball_chain_dom,prints_K_chnl_Ca-activ_BK_bsu	p.L219R	ENST00000432997.1	37	c.656	CCDS3223.1	3	.	.	.	.	.	.	.	.	.	.	T	20.4	3.980292	0.74474	.	.	ENSG00000197584	ENST00000420517;ENST00000452583;ENST00000432997;ENST00000358316;ENST00000457763	T;T;T;T	0.13901	2.55;2.55;2.55;2.55	5.76	5.76	0.90799	.	0.059628	0.64402	D	0.000003	T	0.35856	0.0946	M	0.69358	2.11	0.80722	D	1	P	0.42941	0.794	P	0.60068	0.868	T	0.03008	-1.1083	10	0.87932	D	0	-15.1203	16.087	0.81065	0.0:0.0:0.0:1.0	.	219	Q9Y691	KCMB2_HUMAN	R	219;219;219;219;200	ENSP00000408252:L219R;ENSP00000397483:L219R;ENSP00000407592:L219R;ENSP00000351068:L219R	ENSP00000351068:L219R	L	+	2	0	KCNMB2	180043367	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.452000	0.80683	2.202000	0.70862	0.533000	0.62120	CTT	KCNMB2	-	pfam_K_chnl_Ca-activ_BK_bsu	ENSG00000197584		0.398	KCNMB2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCNMB2	HGNC	protein_coding	OTTHUMT00000348251.1	-	0.00	59	0	T	NM_181361		178560673	+1	tier1	-	no_errors	ENST00000358316	ensembl	human	known	74_37	missense	67.50	13	27	SNP	1.000	G
KIAA0226L	80183	genome.wustl.edu	37	13	46924468	46924468	+	Missense_Mutation	SNP	C	C	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr13:46924468C>T	ENST00000429979.1	-	11	1953	c.1349G>A	c.(1348-1350)cGg>cAg	p.R450Q	KIAA0226L_ENST00000389908.3_Missense_Mutation_p.R450Q|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.R450Q|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.R315Q|KIAA0226L_ENST00000378781.3_3'UTR|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.R383Q|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.R293Q|KIAA0226L_ENST00000409879.2_Missense_Mutation_p.R293Q|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.R450Q	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	450										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						TTCGCAGTACCGGAGCCGCTT	0.527																																																	0													36.0	37.0	37.0					13																	46924468		2200	4284	6484	SO:0001583	missense	0			AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 18"""	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.1349G>A	13.37:g.46924468C>T	ENSP00000396935:p.Arg450Gln		A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Missense_Mutation	SNP	NULL	p.R450Q	ENST00000429979.1	37	c.1349	CCDS31970.2	13	.	.	.	.	.	.	.	.	.	.	C	34	5.304750	0.95601	.	.	ENSG00000102445	ENST00000429979;ENST00000378797;ENST00000378784;ENST00000389908;ENST00000378787;ENST00000409879;ENST00000322896;ENST00000534925	T;T;T;T;T;T	0.59502	0.36;0.26;0.38;0.36;0.26;0.42	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000005	T	0.77864	0.4194	M	0.81179	2.53	0.80722	D	1	P;P;D;D;D;D	0.89917	0.892;0.892;0.999;0.999;0.999;1.0	P;P;D;D;D;D	0.72075	0.593;0.593;0.976;0.976;0.959;0.951	T	0.77768	-0.2464	10	0.48119	T	0.1	-13.197	18.8943	0.92417	0.0:1.0:0.0:0.0	.	293;293;450;315;383;450	B7ZBN5;B7Z6E4;Q9H714;A8KAG9;Q9H714-3;Q9H714-4	.;.;K226L_HUMAN;.;.;.	Q	450;450;383;450;450;293;293;315	ENSP00000396935:R450Q;ENSP00000368074:R450Q;ENSP00000368061:R383Q;ENSP00000374558:R450Q;ENSP00000368064:R450Q;ENSP00000437501:R315Q	ENSP00000315633:R293Q	R	-	2	0	KIAA0226L	45822469	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.638000	0.83328	2.785000	0.95823	0.650000	0.86243	CGG	KIAA0226L	-	NULL	ENSG00000102445		0.527	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0226L	HGNC	protein_coding	OTTHUMT00000044809.2	-	0.00	44	0	C	NM_025113		46924468	-1	tier1	-	no_errors	ENST00000389908	ensembl	human	known	74_37	missense	38.81	41	26	SNP	1.000	T
KIAA1551	55196	genome.wustl.edu	37	12	32145896	32145896	+	3'UTR	SNP	A	A	C			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr12:32145896A>C	ENST00000312561.4	+	0	6085					NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551																		TGAATGTCAAAATATATTCTT	0.264																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.*427A>C	12.37:g.32145896A>C			B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	RNA	SNP	-	NULL	ENST00000312561.4	37	NULL	CCDS8725.2	12																																																																																			KIAA1551	-	-	ENSG00000174718		0.264	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1551	HGNC	protein_coding	OTTHUMT00000250307.2	-	0.00	95	0	A	NM_018169		32145896	+1	tier1	-	no_errors	ENST00000397578	ensembl	human	known	74_37	rna	12.58	959	138	SNP	0.238	C
KIR3DX1	90011	genome.wustl.edu	37	19	55054694	55054694	+	3'UTR	SNP	C	C	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr19:55054694C>T	ENST00000482404.1	+	0	2049				KIR3DX1_ENST00000335056.3_Intron			Q9H7L2	KI3X1_HUMAN	killer cell immunoglobulin-like receptor, three domains, X1							extracellular region (GO:0005576)				endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		ATTCCCAGTGCCCCTGCCTTC	0.537																																					Colon(183;529 2002 28270 32358 35845)|Esophageal Squamous(50;443 1006 2278 10294 37938)												0																																										SO:0001624	3_prime_UTR_variant	0			BC033195		19q13.42	2013-03-26	2006-09-12	2006-09-12	ENSG00000104970	ENSG00000104970		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	25043	other	unknown			"""leukocyte receptor cluster (LRC) member 12"""	LENG12		11441184	Standard	NR_026716		Approved	FLJ00060	uc010erm.2	Q9H7L2	OTTHUMG00000065696	ENST00000482404.1:c.*2046C>T	19.37:g.55054694C>T			B7WNL0|Q8N0S4	RNA	SNP	-	NULL	ENST00000482404.1	37	NULL		19																																																																																			KIR3DX1	-	-	ENSG00000104970		0.537	KIR3DX1-001	KNOWN	basic	processed_transcript	KIR3DX1	HGNC	protein_coding	OTTHUMT00000140799.1		0.00	41	0	C	NR_026716		55054694	+1			no_errors	ENST00000482404	ensembl	human	known	74_37	rna	8.00	46	4	SNP	0.000	T
KLHL7	55975	genome.wustl.edu	37	7	23183545	23183545	+	Missense_Mutation	SNP	A	A	G			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr7:23183545A>G	ENST00000339077.5	+	6	937	c.694A>G	c.(694-696)Aaa>Gaa	p.K232E	KLHL7_ENST00000539124.1_Missense_Mutation_p.K156E|KLHL7_ENST00000545443.1_Missense_Mutation_p.K210E|KLHL7_ENST00000542558.1_Missense_Mutation_p.K7E|KLHL7_ENST00000409689.1_Missense_Mutation_p.K184E|KLHL7_ENST00000322231.7_Missense_Mutation_p.K210E	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	232	BACK.				protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TATCCTTGCTAAAGTCAGGTT	0.388																																																	0													175.0	165.0	168.0					7																	23183545		2203	4300	6503	SO:0001583	missense	0				CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.694A>G	7.37:g.23183545A>G	ENSP00000343273:p.Lys232Glu		A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.K232E	ENST00000339077.5	37	c.694	CCDS34609.1	7	.	.	.	.	.	.	.	.	.	.	A	17.54	3.414659	0.62511	.	.	ENSG00000122550	ENST00000536369;ENST00000322231;ENST00000339077;ENST00000539124;ENST00000542558;ENST00000409689;ENST00000545443	T;T;T;T;T;T	0.72282	-0.38;-0.38;-0.38;-0.64;-0.38;-0.38	5.43	5.43	0.79202	BTB/Kelch-associated (2);	0.130066	0.64402	D	0.000002	T	0.63094	0.2482	L	0.39566	1.225	0.46631	D	0.999133	B;P;B	0.37914	0.281;0.611;0.358	B;B;B	0.37015	0.038;0.239;0.107	T	0.62058	-0.6934	9	.	.	.	.	15.756	0.78025	1.0:0.0:0.0:0.0	.	7;232;210	B7Z3P9;Q8IXQ5;Q8IXQ5-2	.;KLHL7_HUMAN;.	E	198;210;232;156;7;184;210	ENSP00000322958:K210E;ENSP00000343273:K232E;ENSP00000441136:K156E;ENSP00000442367:K7E;ENSP00000386263:K184E;ENSP00000442366:K210E	.	K	+	1	0	KLHL7	23150070	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.357000	0.73051	2.177000	0.69029	0.482000	0.46254	AAA	KLHL7	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin	ENSG00000122550		0.388	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL7	HGNC	protein_coding	OTTHUMT00000326860.3	-	0.00	83	0	A	NM_018846		23183545	+1	tier1	-	no_errors	ENST00000339077	ensembl	human	known	74_37	missense	6.19	106	7	SNP	1.000	G
KRT31	3881	genome.wustl.edu	37	17	39550305	39550305	+	Missense_Mutation	SNP	C	C	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr17:39550305C>T	ENST00000251645.2	-	7	1266	c.1214G>A	c.(1213-1215)cGc>cAc	p.R405H		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	405	Tail.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)	p.R405H(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				ACAGCGGGGGCGTGGGGCACA	0.637																																																	2	Substitution - Missense(2)	lung(2)											68.0	60.0	63.0					17																	39550305		2203	4300	6503	SO:0001583	missense	0			X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6448	protein-coding gene	gene with protein product	"""hard keratin type I 1"""	601077	"""keratin, hair, acidic, 1"""	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.1214G>A	17.37:g.39550305C>T	ENSP00000251645:p.Arg405His		Q9UE12	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.R405H	ENST00000251645.2	37	c.1214	CCDS11391.1	17	.	.	.	.	.	.	.	.	.	.	c	26.7	4.766879	0.90020	.	.	ENSG00000094796	ENST00000251645	D	0.82167	-1.58	5.52	5.52	0.82312	.	0.111520	0.40554	N	0.001061	D	0.90010	0.6881	M	0.72118	2.19	0.39246	D	0.963951	D	0.76494	0.999	D	0.76071	0.987	D	0.91097	0.4911	10	0.59425	D	0.04	.	14.9452	0.71026	0.0:1.0:0.0:0.0	.	405	Q15323	K1H1_HUMAN	H	405	ENSP00000251645:R405H	ENSP00000251645:R405H	R	-	2	0	KRT31	36803831	0.886000	0.30341	0.957000	0.39632	0.963000	0.63663	1.550000	0.36223	2.612000	0.88384	0.655000	0.94253	CGC	KRT31	-	NULL	ENSG00000094796		0.637	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT31	HGNC	protein_coding	OTTHUMT00000257286.1	-	0.00	17	0	C	NM_002277		39550305	-1	tier1	-	no_errors	ENST00000251645	ensembl	human	known	74_37	missense	79.00	21	79	SNP	0.974	T
KRTAP10-7	386675	genome.wustl.edu	37	21	46021043	46021043	+	Silent	SNP	C	C	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr21:46021043C>T	ENST00000380102.2	+	1	547	c.522C>T	c.(520-522)tcC>tcT	p.S174S	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	174	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CTGGGATTTCCTCTTCGTGCT	0.632																																																	0													54.0	59.0	57.0					21																	46021043		2190	4259	6449	SO:0001819	synonymous_variant	0			AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.522C>T	21.37:g.46021043C>T			Q0VDJ8|Q70LJ2	Silent	SNP	NULL	p.S174	ENST00000380102.2	37	c.522		21																																																																																			KRTAP10-7	-	NULL	ENSG00000205441		0.632	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	KRTAP10-7	HGNC	protein_coding	OTTHUMT00000128038.1		0.00	53	0	C	NM_198689		46021043	+1			no_errors	ENST00000380102	ensembl	human	known	74_37	silent	10.42	43	5	SNP	0.000	T
LOC100653061	100653061	genome.wustl.edu	37	5	34182947	34182947	+	RNA	SNP	G	G	C			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr5:34182947G>C	ENST00000514048.1	-	0	68																											TACTGCACTTGACGGAGATAT	0.537																																																	0																																												0																															5.37:g.34182947G>C				RNA	SNP	-	NULL	ENST00000514048.1	37	NULL		5																																																																																			RP11-1023L17.1	-	-	ENSG00000215158		0.537	RP11-1023L17.1-003	KNOWN	basic	processed_transcript	LOC100653061	Clone_based_vega_gene	pseudogene	OTTHUMT00000367775.1	-	0.00	714	0	G			34182947	-1	tier1	-	no_errors	ENST00000508395	ensembl	human	known	74_37	rna	12.39	303	43	SNP	0.936	C
SPANXA2-OT1	619455	genome.wustl.edu	37	X	140714827	140714827	+	RNA	SNP	A	A	C			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chrX:140714827A>C	ENST00000421554.1	+	0	572				RP1-171K16.5_ENST00000412163.1_lincRNA	NR_037183.1		Q8N9U9	SPOT1_HUMAN	SPANXA2 overlapping transcript 1																		TATTGCACCAAGATTCTTGGA	0.388																																																	0																																												0			AK093505		Xq27.2	2014-06-02	2014-06-02	2011-08-31	ENSG00000226574	ENSG00000277215		"""Long non-coding RNAs"", ""-"""	31683	non-coding RNA	RNA, long non-coding			"""chromosome X open reading frame 18"", ""SPANXA2 overlapping transcript 1 (non-protein coding)"""	CXorf18			Standard	NR_037183		Approved	FLJ36186	uc004fbm.1	Q8N9U9	OTTHUMG00000022566		X.37:g.140714827A>C				RNA	SNP	-	NULL	ENST00000421554.1	37	NULL		X																																																																																			RP1-171K16.5	-	-	ENSG00000223438		0.388	SPANXA2-OT1-001	KNOWN	basic	processed_transcript	LOC645188	Clone_based_vega_gene	processed_transcript	OTTHUMT00000058601.2	-	0.00	14	0	A	NR_037183		140714827	+1	tier1	-	no_errors	ENST00000412163	ensembl	human	known	74_37	rna	75.00	3	9	SNP	0.000	C
LPAR2	9170	genome.wustl.edu	37	19	19737605	19737605	+	Silent	SNP	C	C	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr19:19737605C>T	ENST00000542587.1	-	5	1391	c.489G>A	c.(487-489)ctG>ctA	p.L163L	LPAR2_ENST00000589311.1_5'Flank|LPAR2_ENST00000407877.3_Silent_p.L163L|LPAR2_ENST00000586703.1_Silent_p.L163L			Q9HBW0	LPAR2_HUMAN	lysophosphatidic acid receptor 2	163					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of Rho protein signal transduction (GO:0035025)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						GGGCAGGCAGCAGCCCCAGGC	0.692																																																	0													25.0	21.0	23.0					19																	19737605		2197	4294	6491	SO:0001819	synonymous_variant	0			AF011466	CCDS12407.1	19p12	2012-08-08	2008-04-11	2008-04-11		ENSG00000064547		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	3168	protein-coding gene	gene with protein product		605110	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 4"""	EDG4		9525886, 9804623	Standard	NM_004720		Approved	EDG-4, LPA2	uc002nnb.4	Q9HBW0		ENST00000542587.1:c.489G>A	19.37:g.19737605C>T			O00543|O43431	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG4,prints_GPCR_Rhodpsn,prints_LPA_rcpt,prints_LPA_rcpt_EDG2,prints_Melcrt_ACTH_rcpt,prints_S1P_rcpt	p.L163	ENST00000542587.1	37	c.489	CCDS12407.1	19																																																																																			LPAR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000064547		0.692	LPAR2-003	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	LPAR2	HGNC	protein_coding	OTTHUMT00000460544.1	-	0.00	33	0	C	NM_004720		19737605	-1	tier1	-	no_errors	ENST00000407877	ensembl	human	known	74_37	silent	10.81	33	4	SNP	0.963	T
LPIN3	64900	genome.wustl.edu	37	20	39983354	39983354	+	Missense_Mutation	SNP	C	C	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr20:39983354C>T	ENST00000373257.3	+	12	1688	c.1597C>T	c.(1597-1599)Cgc>Tgc	p.R533C		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	533					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				TTCCTGGCGACGCAGGGACTT	0.612																																																	0													73.0	65.0	68.0					20																	39983354		2203	4300	6503	SO:0001583	missense	0			AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.1597C>T	20.37:g.39983354C>T	ENSP00000362354:p.Arg533Cys		B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Missense_Mutation	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2	p.R533C	ENST00000373257.3	37	c.1597	CCDS33469.1	20	.	.	.	.	.	.	.	.	.	.	C	19.87	3.908239	0.72868	.	.	ENSG00000132793	ENST00000373257	D	0.81821	-1.54	5.21	3.15	0.36227	.	0.062472	0.56097	D	0.000025	D	0.88418	0.6431	M	0.84683	2.71	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.83275	0.975;0.996	D	0.87709	0.2565	9	.	.	.	-12.6653	8.043	0.30532	0.2767:0.6422:0.0:0.0811	.	534;533	Q9BQK8-2;Q9BQK8	.;LPIN3_HUMAN	C	533	ENSP00000362354:R533C	.	R	+	1	0	LPIN3	39416768	0.114000	0.22134	1.000000	0.80357	0.971000	0.66376	0.545000	0.23268	1.204000	0.43247	0.650000	0.86243	CGC	LPIN3	-	NULL	ENSG00000132793		0.612	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LPIN3	HGNC	protein_coding	OTTHUMT00000080393.1	-	0.00	40	0	C	NM_022896		39983354	+1	tier1	-	no_errors	ENST00000373257	ensembl	human	known	74_37	missense	39.29	17	11	SNP	0.997	T
LRCOL1	100507055	genome.wustl.edu	37	12	133182805	133182805	+	lincRNA	SNP	C	C	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr12:133182805C>T	ENST00000545517.1	-	0	45							A6NCL2	LRCL1_HUMAN	leucine rich colipase-like 1						digestion (GO:0007586)|lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	enzyme activator activity (GO:0008047)										gcagcagcagcagtagcagca	0.647																																																	0																																												0				CCDS73547.1	12q24.33	2012-07-02			ENSG00000204583	ENSG00000204583			44160	protein-coding gene	gene with protein product							Standard	NM_001195520		Approved		uc021rgr.1	A6NCL2	OTTHUMG00000168043		12.37:g.133182805C>T			H9BFB1	RNA	SNP	-	NULL	ENST00000545517.1	37	NULL		12																																																																																			LRCOL1	-	-	ENSG00000204583		0.647	LRCOL1-003	KNOWN	basic	lincRNA	LRCOL1	HGNC	lincRNA	OTTHUMT00000397683.1		0.00	114	0	C	NM_001195520		133182805	-1			no_errors	ENST00000536100	ensembl	human	known	74_37	rna	5.19	73	4	SNP	0.005	T
LRP1B	53353	genome.wustl.edu	37	2	141607887	141607888	+	Frame_Shift_Ins	INS	-	-	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr2:141607887_141607888insT	ENST00000389484.3	-	29	5693_5694	c.4722_4723insA	c.(4720-4725)aaatttfs	p.F1575fs		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1575					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAAAGAAGAAATTTTTTCATTT	0.302										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0																																										SO:0001589	frameshift_variant	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4723dupA	2.37:g.141607893_141607893dupT	ENSP00000374135:p.Phe1575fs		Q8WY29|Q8WY30|Q8WY31	Frame_Shift_Ins	INS	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.F1574fs	ENST00000389484.3	37	c.4723_4722	CCDS2182.1	2																																																																																			LRP1B	-	NULL	ENSG00000168702		0.302	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2		0.00	39	0	-	NM_018557		141607888	-1	tier1		no_errors	ENST00000389484	ensembl	human	known	74_37	frame_shift_ins	22.50	31	9	INS	1.000:1.000	T
LRRC18	474354	genome.wustl.edu	37	10	50121955	50121955	+	Missense_Mutation	SNP	G	G	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr10:50121955G>T	ENST00000374160.3	-	1	322	c.246C>A	c.(244-246)agC>agA	p.S82R	WDFY4_ENST00000325239.5_Intron|RP11-523O18.7_ENST00000430438.1_RNA|LRRC18_ENST00000298124.3_Missense_Mutation_p.S82R|WDFY4_ENST00000413659.2_Intron	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	82						cytoplasm (GO:0005737)				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CTATGTAGTTGCTGTGCAGGT	0.562																																																	0													93.0	78.0	83.0					10																	50121955		2203	4300	6503	SO:0001583	missense	0			AY358137	CCDS31197.1	10q11.23	2011-02-10			ENSG00000165383	ENSG00000165383			23199	protein-coding gene	gene with protein product							Standard	NM_001006939		Approved	UNQ933, MGC34773, UNQ9338, VKGE9338	uc001jhd.3	Q8N456	OTTHUMG00000018182	ENST00000374160.3:c.246C>A	10.37:g.50121955G>T	ENSP00000363275:p.Ser82Arg		Q6UY02	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S82R	ENST00000374160.3	37	c.246	CCDS31197.1	10	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760855	0.69763	.	.	ENSG00000165383	ENST00000374160;ENST00000298124	T;T	0.48201	0.82;0.82	6.07	3.87	0.44632	.	0.000000	0.85682	D	0.000000	T	0.58133	0.2101	L	0.45470	1.425	0.51767	D	0.999938	D	0.89917	1.0	D	0.91635	0.999	T	0.53085	-0.8488	9	.	.	.	.	10.1872	0.43004	0.2501:0.0:0.7499:0.0	.	82	Q8N456	LRC18_HUMAN	R	82	ENSP00000363275:S82R;ENSP00000298124:S82R	.	S	-	3	2	LRRC18	49791961	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.771000	0.47670	0.643000	0.30638	0.655000	0.94253	AGC	LRRC18	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000165383		0.562	LRRC18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRRC18	HGNC	protein_coding	OTTHUMT00000047964.1	-	0.00	28	0	G	NM_001006939		50121955	-1	tier1	-	no_errors	ENST00000374160	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T
LRRC56	115399	genome.wustl.edu	37	11	550191	550191	+	Missense_Mutation	SNP	G	G	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr11:550191G>T	ENST00000270115.7	+	8	1043	c.543G>T	c.(541-543)ttG>ttT	p.L181F		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	181										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCGCTACTTGCAGCTGTGCC	0.662																																																	0													76.0	70.0	72.0					11																	550191		2202	4300	6502	SO:0001583	missense	0				CCDS7700.1	11p15.5	2005-10-18			ENSG00000161328	ENSG00000161328			25430	protein-coding gene	gene with protein product						12477932	Standard	NM_198075		Approved	FLJ00101, DKFZp761L1518	uc010qvz.2	Q8IYG6	OTTHUMG00000132003	ENST00000270115.7:c.543G>T	11.37:g.550191G>T	ENSP00000270115:p.Leu181Phe		Q8N3Q4	Missense_Mutation	SNP	NULL	p.L181F	ENST00000270115.7	37	c.543	CCDS7700.1	11	.	.	.	.	.	.	.	.	.	.	G	13.19	2.162644	0.38217	.	.	ENSG00000161328	ENST00000270115	T	0.33654	1.4	4.58	3.65	0.41850	.	0.000000	0.64402	D	0.000002	T	0.63885	0.2549	M	0.93016	3.37	0.43588	D	0.995939	D	0.89917	1.0	D	0.97110	1.0	T	0.67593	-0.5631	10	0.87932	D	0	-23.5174	7.2679	0.26239	0.2021:0.0:0.7979:0.0	.	181	Q8IYG6	LRC56_HUMAN	F	181	ENSP00000270115:L181F	ENSP00000270115:L181F	L	+	3	2	LRRC56	540191	1.000000	0.71417	1.000000	0.80357	0.059000	0.15707	3.264000	0.51553	1.116000	0.41820	0.491000	0.48974	TTG	LRRC56	-	NULL	ENSG00000161328		0.662	LRRC56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC56	HGNC	protein_coding	OTTHUMT00000254969.1	-	0.00	55	0	G	NM_198075		550191	+1	tier1	-	no_errors	ENST00000270115	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T
LRRK2	120892	genome.wustl.edu	37	12	40634288	40634288	+	Missense_Mutation	SNP	C	C	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr12:40634288C>T	ENST00000298910.7	+	6	633	c.575C>T	c.(574-576)tCa>tTa	p.S192L	LRRK2_ENST00000343742.2_Missense_Mutation_p.S192L	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	192					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.S192L(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTTTAAGTCTCAGAGGAGCAA	0.274																																																	2	Substitution - Missense(2)	biliary_tract(2)											68.0	68.0	68.0					12																	40634288		2203	4296	6499	SO:0001583	missense	0			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.575C>T	12.37:g.40634288C>T	ENSP00000298910:p.Ser192Leu		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom	p.S192L	ENST00000298910.7	37	c.575	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	C	17.37	3.371448	0.61624	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.53423	0.62;0.62	5.54	5.54	0.83059	Armadillo-like helical (1);Armadillo-type fold (1);	0.351559	0.26879	N	0.022027	T	0.54647	0.1871	L	0.43152	1.355	0.36945	D	0.892578	D	0.54964	0.969	P	0.52159	0.691	T	0.62877	-0.6761	10	0.72032	D	0.01	.	18.2426	0.89973	0.0:1.0:0.0:0.0	.	192	Q5S007	LRRK2_HUMAN	L	192	ENSP00000341930:S192L;ENSP00000298910:S192L	ENSP00000298910:S192L	S	+	2	0	LRRK2	38920555	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	5.572000	0.67411	2.613000	0.88420	0.650000	0.86243	TCA	LRRK2	-	superfamily_ARM-type_fold	ENSG00000188906		0.274	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	-	0.00	63	0	C	XM_058513		40634288	+1	tier1	-	no_errors	ENST00000298910	ensembl	human	known	74_37	missense	6.41	73	5	SNP	1.000	T
LRRTM4	80059	genome.wustl.edu	37	2	77746912	77746912	+	Missense_Mutation	SNP	G	G	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr2:77746912G>A	ENST00000409093.1	-	3	419	c.83C>T	c.(82-84)aCg>aTg	p.T28M	LRRTM4_ENST00000409282.1_Missense_Mutation_p.T29M|LRRTM4_ENST00000409884.1_Missense_Mutation_p.T28M|LRRTM4_ENST00000409088.3_Missense_Mutation_p.T28M|LRRTM4_ENST00000409911.1_Missense_Mutation_p.T29M			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	28					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.T28M(2)|p.T28K(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CTGAGCACCCGTGAGCATAAC	0.443																																																	4	Substitution - Missense(4)	lung(2)|endometrium(2)											69.0	68.0	68.0					2																	77746912		2028	4198	6226	SO:0001583	missense	0			AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.83C>T	2.37:g.77746912G>A	ENSP00000386357:p.Thr28Met		Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.T29M	ENST00000409093.1	37	c.86	CCDS46346.1	2	.	.	.	.	.	.	.	.	.	.	G	12.74	2.027793	0.35797	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282;ENST00000456154	T;T;T;T;T	0.53206	0.63;0.65;0.65;0.75;0.76	5.96	5.96	0.96718	.	0.435314	0.26146	N	0.026067	T	0.28001	0.0690	N	0.04508	-0.205	0.23314	N	0.997925	P;P;D	0.54207	0.834;0.897;0.965	B;B;B	0.42319	0.213;0.383;0.277	T	0.26883	-1.0090	10	0.66056	D	0.02	.	12.3072	0.54908	0.0774:0.0:0.9226:0.0	.	29;28;28	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	M	29;28;28;28;29;17	ENSP00000387228:T29M;ENSP00000387297:T28M;ENSP00000386357:T28M;ENSP00000386236:T28M;ENSP00000386286:T29M	ENSP00000386236:T28M	T	-	2	0	LRRTM4	77600420	0.017000	0.18338	0.998000	0.56505	0.995000	0.86356	1.961000	0.40432	2.826000	0.97356	0.655000	0.94253	ACG	LRRTM4	-	NULL	ENSG00000176204		0.443	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRRTM4	HGNC	protein_coding	OTTHUMT00000328225.1	-	0.00	34	0	G	NM_024993		77746912	-1	tier1	-	no_errors	ENST00000409911	ensembl	human	known	74_37	missense	41.86	25	18	SNP	0.999	A
LY75	4065	genome.wustl.edu	37	2	160667040	160667040	+	Missense_Mutation	SNP	G	G	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr2:160667040G>A	ENST00000263636.4	-	32	4723	c.4696C>T	c.(4696-4698)Cat>Tat	p.H1566Y	LY75-CD302_ENST00000505052.1_Missense_Mutation_p.H1566Y|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.H1566Y|LY75_ENST00000553424.1_Missense_Mutation_p.H1566Y|LY75_ENST00000554112.1_Missense_Mutation_p.H1566Y	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	1566	C-type lectin 10. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		aaCTCACCATGTTTTGAACAC	0.318																																																	0													131.0	139.0	137.0					2																	160667040		2203	4300	6503	SO:0001583	missense	0			AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.4696C>T	2.37:g.160667040G>A	ENSP00000263636:p.His1566Tyr		O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.H1566Y	ENST00000263636.4	37	c.4696	CCDS2211.1	2	.	.	.	.	.	.	.	.	.	.	G	2.942	-0.218581	0.06101	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.07688	3.17;3.17;3.17;3.17;3.17	4.91	2.97	0.34412	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.317954	0.17365	U	0.176894	T	0.04227	0.0117	N	0.20845	0.615	0.22968	N	0.998491	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.44097	-0.9350	10	0.02654	T	1	.	7.5637	0.27866	0.0859:0.0:0.7513:0.1628	.	1566;1566;1566	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	Y	1566	ENSP00000451511:H1566Y;ENSP00000451446:H1566Y;ENSP00000263636:H1566Y;ENSP00000423463:H1566Y;ENSP00000421035:H1566Y	ENSP00000423463:H1566Y	H	-	1	0	LY75;LY75-CD302	160375286	1.000000	0.71417	0.861000	0.33841	0.076000	0.17211	2.310000	0.43708	1.209000	0.43321	-0.339000	0.08088	CAT	LY75	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000054219		0.318	LY75-001	KNOWN	basic|CCDS	protein_coding	LY75	HGNC	protein_coding	OTTHUMT00000255035.1	-	0.00	74	0	G			160667040	-1	tier1	-	no_errors	ENST00000554112	ensembl	human	known	74_37	missense	67.47	27	56	SNP	0.986	A
MRGPRX3	117195	genome.wustl.edu	37	11	18158962	18158962	+	Silent	SNP	C	C	T	rs147032356		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr11:18158962C>T	ENST00000396275.2	+	3	574	c.213C>T	c.(211-213)gcC>gcT	p.A71A		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TGGTCGCGGCCGACTTCCTCT	0.567																																																	0													98.0	93.0	95.0					11																	18158962		2200	4293	6493	SO:0001819	synonymous_variant	0				CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.213C>T	11.37:g.18158962C>T			B0M0L1|Q8TDE0|Q8TDE1	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.A71	ENST00000396275.2	37	c.213	CCDS7830.1	11																																																																																			MRGPRX3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000179826		0.567	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRX3	HGNC	protein_coding	OTTHUMT00000389767.1	-	0.00	26	0	C	NM_054031		18158962	+1	tier1	-	no_errors	ENST00000396275	ensembl	human	known	74_37	silent	46.67	16	14	SNP	0.554	T
MT1M	4499	genome.wustl.edu	37	16	56667708	56667708	+	Missense_Mutation	SNP	G	G	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr16:56667708G>A	ENST00000379818.3	+	3	639	c.140G>A	c.(139-141)gGc>gAc	p.G47D	AC026461.1_ENST00000600389.1_5'Flank|MT1JP_ENST00000564564.1_RNA	NM_176870.2	NP_789846.1	Q8N339	MT1M_HUMAN	metallothionein 1M	47	Alpha.				cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5						TGTGCCCACGGCTGTGTCTGC	0.592																																																	0													125.0	128.0	127.0					16																	56667708		2198	4300	6498	SO:0001583	missense	0			AF136177	CCDS42166.1	16q13	2008-02-05				ENSG00000205364		"""Metallothioneins"""	14296	protein-coding gene	gene with protein product		156357	"""metallothionein 1K"""	MT1, MT1K		2286373, 8049263	Standard	NM_176870		Approved		uc002ejn.3	Q8N339		ENST00000379818.3:c.140G>A	16.37:g.56667708G>A	ENSP00000369146:p.Gly47Asp		Q8TDN3	Missense_Mutation	SNP	pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert	p.G47D	ENST00000379818.3	37	c.140	CCDS42166.1	16	.	.	.	.	.	.	.	.	.	.	G	14.03	2.415228	0.42817	.	.	ENSG00000205364	ENST00000379818	T	0.12774	2.65	2.41	1.36	0.22044	Metallothionein domain, vertebrate (1);Metallothionein domain (1);	0.000000	0.64402	U	0.000012	T	0.30166	0.0756	.	.	.	0.45541	D	0.998491	D	0.76494	0.999	D	0.74674	0.984	T	0.01472	-1.1346	9	0.54805	T	0.06	.	6.9645	0.24615	0.1498:0.0:0.8502:0.0	.	47	Q8N339	MT1M_HUMAN	D	47	ENSP00000369146:G47D	ENSP00000369146:G47D	G	+	2	0	MT1M	55225209	1.000000	0.71417	0.906000	0.35671	0.445000	0.32107	3.366000	0.52343	0.297000	0.22615	0.461000	0.40582	GGC	MT1M	-	pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert	ENSG00000205364		0.592	MT1M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MT1M	HGNC	protein_coding	OTTHUMT00000434359.1	-	0.00	59	0	G	NM_176870		56667708	+1	tier1	-	no_errors	ENST00000379818	ensembl	human	known	74_37	missense	7.46	62	5	SNP	1.000	A
MUC16	94025	genome.wustl.edu	37	19	9067623	9067623	+	Missense_Mutation	SNP	G	G	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr19:9067623G>A	ENST00000397910.4	-	3	20026	c.19823C>T	c.(19822-19824)tCg>tTg	p.S6608L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6610	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGGACAGACGAATAAGATTC	0.443																																																	0													214.0	193.0	200.0					19																	9067623		1929	4135	6064	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.19823C>T	19.37:g.9067623G>A	ENSP00000381008:p.Ser6608Leu		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.S6608L	ENST00000397910.4	37	c.19823	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	6.161	0.397895	0.11696	.	.	ENSG00000181143	ENST00000397910	T	0.38560	1.13	2.36	2.36	0.29203	.	.	.	.	.	T	0.53061	0.1773	L	0.50333	1.59	.	.	.	D	0.89917	1.0	D	0.69824	0.966	T	0.63484	-0.6627	8	0.87932	D	0	.	8.4222	0.32707	0.0:0.0:1.0:0.0	.	6608	B5ME49	.	L	6608	ENSP00000381008:S6608L	ENSP00000381008:S6608L	S	-	2	0	MUC16	8928623	0.001000	0.12720	0.004000	0.12327	0.396000	0.30629	0.918000	0.28678	1.656000	0.50722	0.154000	0.16183	TCG	MUC16	-	NULL	ENSG00000181143		0.443	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0.00	51	0	G	NM_024690		9067623	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	45.45	36	30	SNP	0.004	A
MUC4	4585	genome.wustl.edu	37	3	195505763	195505763	+	Missense_Mutation	SNP	G	G	A	rs534260673	byFrequency	TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr3:195505763G>A	ENST00000463781.3	-	2	13147	c.12688C>T	c.(12688-12690)Ctt>Ttt	p.L4230F	MUC4_ENST00000475231.1_Missense_Mutation_p.L4230F|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	987					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.L4230F(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACTGAGGAAAGGCTGGTGACA	0.582																																																	2	Substitution - Missense(2)	kidney(2)											42.0	42.0	42.0					3																	195505763		2092	4200	6292	SO:0001583	missense	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12688C>T	3.37:g.195505763G>A	ENSP00000417498:p.Leu4230Phe		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.L4230F	ENST00000463781.3	37	c.12688	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	N	10.21	1.286628	0.23478	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.31769	1.48;1.49	1.78	0.849	0.18972	.	.	.	.	.	T	0.13756	0.0333	N	0.19112	0.55	0.09310	N	1	P	0.35139	0.486	B	0.19946	0.027	T	0.16276	-1.0408	8	.	.	.	.	6.3726	0.21489	0.0:0.3086:0.6914:0.0	.	4102	E7ESK3	.	F	4230	ENSP00000417498:L4230F;ENSP00000420243:L4230F	.	L	-	1	0	MUC4	196990542	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.092000	0.11129	0.347000	0.23924	-0.229000	0.12294	CTT	MUC4	-	NULL	ENSG00000145113		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6		0.00	89	0	G	NM_018406		195505763	-1			no_errors	ENST00000463781	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.125	A
MYO15A	51168	genome.wustl.edu	37	17	18022706	18022706	+	Missense_Mutation	SNP	G	G	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr17:18022706G>A	ENST00000205890.5	+	2	930	c.592G>A	c.(592-594)Gcg>Acg	p.A198T		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	198					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CAGCATCTACGCGTCAGGCGA	0.701																																																	0													22.0	25.0	24.0					17																	18022706		1960	4134	6094	SO:0001583	missense	0			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.592G>A	17.37:g.18022706G>A	ENSP00000205890:p.Ala198Thr		B4DFC7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.A198T	ENST00000205890.5	37	c.592	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901958	0.33535	.	.	ENSG00000091536	ENST00000205890	D	0.87650	-2.28	5.34	2.01	0.26516	.	.	.	.	.	T	0.73434	0.3586	N	0.19112	0.55	0.18873	N	0.999983	P	0.36535	0.557	B	0.22753	0.041	T	0.60311	-0.7288	9	0.54805	T	0.06	.	9.1987	0.37244	0.0:0.1113:0.3807:0.508	.	198	Q9UKN7	MYO15_HUMAN	T	198	ENSP00000205890:A198T	ENSP00000205890:A198T	A	+	1	0	MYO15A	17963431	0.057000	0.20700	0.029000	0.17559	0.158000	0.22134	1.093000	0.30939	0.105000	0.17753	-0.324000	0.08512	GCG	MYO15A	-	NULL	ENSG00000091536		0.701	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	-	0.00	13	0	G	NM_016239		18022706	+1	tier1	-	no_errors	ENST00000205890	ensembl	human	known	74_37	missense	70.00	3	7	SNP	0.071	A
MYO16	23026	genome.wustl.edu	37	13	109318471	109318471	+	Missense_Mutation	SNP	C	C	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr13:109318471C>T	ENST00000357550.2	+	1	241	c.200C>T	c.(199-201)gCg>gTg	p.A67V	MYO16_ENST00000251041.5_Missense_Mutation_p.A67V|MYO16_ENST00000356711.2_Missense_Mutation_p.A67V	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CTACAGGACGCGATTATCCAC	0.423																																																	0													53.0	47.0	49.0					13																	109318471		2203	4300	6503	SO:0001583	missense	0				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.200C>T	13.37:g.109318471C>T	ENSP00000350160:p.Ala67Val			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A67V	ENST00000357550.2	37	c.200	CCDS32008.1	13	.	.	.	.	.	.	.	.	.	.	C	18.13	3.555479	0.65425	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041	T;T;T	0.79653	-1.29;-1.29;-1.29	5.37	5.37	0.77165	Ankyrin repeat-containing domain (4);	0.000000	0.36134	U	0.002767	D	0.91099	0.7198	M	0.86343	2.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.91831	0.5475	9	.	.	.	.	18.0975	0.89494	0.0:1.0:0.0:0.0	.	67;67	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	V	67	ENSP00000349145:A67V;ENSP00000350160:A67V;ENSP00000251041:A67V	.	A	+	2	0	MYO16	108116472	1.000000	0.71417	0.490000	0.27465	0.063000	0.16089	6.898000	0.75676	2.506000	0.84524	0.650000	0.86243	GCG	MYO16	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000041515		0.423	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1	-	0.00	95	0	C	NM_015011		109318471	+1	tier1	-	no_errors	ENST00000356711	ensembl	human	known	74_37	missense	11.11	119	15	SNP	1.000	T
NAALAD2	10003	genome.wustl.edu	37	11	89896509	89896509	+	Silent	SNP	C	C	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr11:89896509C>T	ENST00000534061.1	+	10	1337	c.1107C>T	c.(1105-1107)gaC>gaT	p.D369D	NAALAD2_ENST00000525171.1_Silent_p.D276D|NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Silent_p.D336D	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	369	NAALADase.				neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GTCACCGGGACTCCTGGGTAT	0.378																																																	0													120.0	128.0	125.0					11																	89896509		2201	4299	6500	SO:0001819	synonymous_variant	0			AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.1107C>T	11.37:g.89896509C>T			B3KQR4|Q4KKV4|Q4VAM9	Silent	SNP	pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom	p.D369	ENST00000534061.1	37	c.1107	CCDS8288.1	11																																																																																			NAALAD2	-	pfam_Peptidase_M28	ENSG00000077616		0.378	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALAD2	HGNC	protein_coding	OTTHUMT00000389424.2	-	0.00	103	0	C	NM_005467		89896509	+1	tier1	-	no_errors	ENST00000534061	ensembl	human	known	74_37	silent	32.08	72	34	SNP	1.000	T
NCSTN	23385	genome.wustl.edu	37	1	160326959	160326959	+	Silent	SNP	C	C	T	rs200925288		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr1:160326959C>T	ENST00000294785.5	+	16	2048	c.1923C>T	c.(1921-1923)agC>agT	p.S641S	NCSTN_ENST00000368065.4_Silent_p.S383S|NCSTN_ENST00000535857.1_Silent_p.S503S|NCSTN_ENST00000392212.4_Silent_p.S621S|NCSTN_ENST00000368063.1_Silent_p.S621S	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	641					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTCAGTGGAGCTCTACTGAAT	0.537																																																	0													94.0	86.0	89.0					1																	160326959		2203	4300	6503	SO:0001819	synonymous_variant	0			AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.1923C>T	1.37:g.160326959C>T			Q5T207|Q5T208|Q86VV5	Silent	SNP	pfam_Nicastrin	p.S641	ENST00000294785.5	37	c.1923	CCDS1203.1	1																																																																																			NCSTN	-	NULL	ENSG00000162736		0.537	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCSTN	HGNC	protein_coding	OTTHUMT00000080622.1	-	0.00	29	0	C	NM_015331		160326959	+1	tier1	rs200925288	no_errors	ENST00000294785	ensembl	human	known	74_37	silent	10.00	35	4	SNP	0.999	T
NDST4	64579	genome.wustl.edu	37	4	115898389	115898389	+	Silent	SNP	T	T	C			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr4:115898389T>C	ENST00000264363.2	-	3	1698	c.1020A>G	c.(1018-1020)gcA>gcG	p.A340A		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	340	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AGGTAAAATTTGCAACCTGAG	0.328																																																	0													83.0	87.0	86.0					4																	115898389		2203	4300	6503	SO:0001819	synonymous_variant	0			AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1020A>G	4.37:g.115898389T>C			Q2KHM8	Silent	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.A340	ENST00000264363.2	37	c.1020	CCDS3706.1	4																																																																																			NDST4	-	pfam_Heparan_SO4_deacetylase	ENSG00000138653		0.328	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST4	HGNC	protein_coding	OTTHUMT00000256427.1	-	0.00	65	0	T	NM_022569		115898389	-1	tier1	-	no_errors	ENST00000264363	ensembl	human	known	74_37	silent	32.71	72	35	SNP	1.000	C
NETO1	81832	genome.wustl.edu	37	18	70451127	70451127	+	Missense_Mutation	SNP	G	G	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr18:70451127G>T	ENST00000327305.6	-	7	1311	c.654C>A	c.(652-654)ttC>ttA	p.F218L	NETO1_ENST00000583169.1_Missense_Mutation_p.F218L|NETO1_ENST00000299430.2_Missense_Mutation_p.F217L	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	218	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CATAGTCCAAGAATCGTAAGT	0.333																																																	0													90.0	89.0	89.0					18																	70451127		2203	4300	6503	SO:0001583	missense	0			AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.654C>A	18.37:g.70451127G>T	ENSP00000313088:p.Phe218Leu		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt	p.F218L	ENST00000327305.6	37	c.654	CCDS12000.1	18	.	.	.	.	.	.	.	.	.	.	G	19.62	3.862492	0.71949	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.24908	1.83;1.83	5.54	5.54	0.83059	CUB (5);	0.000000	0.64402	D	0.000005	T	0.31104	0.0786	M	0.76838	2.35	0.80722	D	1	P;B	0.50819	0.939;0.104	B;B	0.40940	0.344;0.131	T	0.23547	-1.0185	10	0.87932	D	0	-18.4955	11.2436	0.48982	0.1416:0.0:0.8584:0.0	.	217;218	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	L	218;217	ENSP00000313088:F218L;ENSP00000299430:F217L	ENSP00000299430:F217L	F	-	3	2	NETO1	68602107	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	2.454000	0.44979	2.748000	0.94277	0.650000	0.86243	TTC	NETO1	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000166342		0.333	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NETO1	HGNC	protein_coding	OTTHUMT00000256301.2		0.00	13	0	G	NM_138999		70451127	-1			no_errors	ENST00000327305	ensembl	human	known	74_37	missense	10.00	18	2	SNP	1.000	T
NFE2	4778	genome.wustl.edu	37	12	54686491	54686491	+	Silent	SNP	C	C	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr12:54686491C>T	ENST00000540264.2	-	2	1298	c.789G>A	c.(787-789)caG>caA	p.Q263Q	NFE2_ENST00000435572.2_Silent_p.Q263Q|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000553070.1_Silent_p.Q263Q|NFE2_ENST00000312156.4_Silent_p.Q263Q			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	263					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|hemostasis (GO:0007599)|labyrinthine layer blood vessel development (GO:0060716)|multicellular organismal development (GO:0007275)|negative regulation of bone mineralization (GO:0030502)|negative regulation of syncytium formation by plasma membrane fusion (GO:0034242)|nucleosome disassembly (GO:0006337)|positive regulation of peptidyl-lysine acetylation (GO:2000758)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						CTAGCGCTAGCTGGCTCTCTG	0.547																																																	0													47.0	44.0	45.0					12																	54686491		2203	4300	6503	SO:0001819	synonymous_variant	0			BC005044	CCDS8876.1	12q13	2013-08-23	2013-08-23			ENSG00000123405		"""basic leucine zipper proteins"""	7780	protein-coding gene	gene with protein product		601490	"""nuclear factor (erythroid-derived 2), 45kD"", ""nuclear factor (erythroid-derived 2), 45kDa"""			8355703	Standard	NM_001136023		Approved	NF-E2	uc001sfr.5	Q16621		ENST00000540264.2:c.789G>A	12.37:g.54686491C>T			Q07720|Q6ICV9	Silent	SNP	pfam_bZIP,pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.Q263	ENST00000540264.2	37	c.789	CCDS8876.1	12																																																																																			NFE2	-	pfam_bZIP_Maf,superfamily_TF_DNA-bd	ENSG00000123405		0.547	NFE2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NFE2	HGNC	protein_coding	OTTHUMT00000405747.1	-	0.00	28	0	C	NM_006163		54686491	-1	tier1	-	no_errors	ENST00000312156	ensembl	human	known	74_37	silent	12.90	27	4	SNP	1.000	T
NLGN3	54413	genome.wustl.edu	37	X	70390007	70390008	+	3'UTR	INS	-	-	CA	rs35156036|rs112095862		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chrX:70390007_70390008insCA	ENST00000358741.3	+	0	2910_2911				NLGN3_ENST00000374051.3_3'UTR|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_3'UTR	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3						adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					AGGAacacatgcacacacacac	0.554														734	0.194437	0.2882	0.2349	3775	,	,		12388	0.0486		0.0606	False		,,,				2504	0.0818				Esophageal Squamous(103;760 1488 16849 22250 40351)												0																																										SO:0001624	3_prime_UTR_variant	0			AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.*61->CA	X.37:g.70390016_70390017dupCA			B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	RNA	INS	-	NULL	ENST00000358741.3	37	NULL	CCDS55441.1	X																																																																																			NLGN3	-	-	ENSG00000196338		0.554	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NLGN3	HGNC	protein_coding	OTTHUMT00000057121.1		0.00	9	0	-	NM_018977		70390008	+1	tier1		no_errors	ENST00000476589	ensembl	human	known	74_37	rna	36.36	7	4	INS	0.001:0.422	CA
NLRP2	55655	genome.wustl.edu	37	19	55502000	55502000	+	Nonsense_Mutation	SNP	G	G	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr19:55502000G>T	ENST00000543010.1	+	10	2811	c.2668G>T	c.(2668-2670)Gag>Tag	p.E890*	NLRP2_ENST00000263437.6_Nonsense_Mutation_p.E887*|NLRP2_ENST00000448584.2_Nonsense_Mutation_p.E890*|NLRP2_ENST00000427260.2_Nonsense_Mutation_p.E867*|NLRP2_ENST00000391721.4_Nonsense_Mutation_p.E866*|NLRP2_ENST00000339757.7_Nonsense_Mutation_p.E868*|NLRP2_ENST00000586512.1_3'UTR|NLRP2_ENST00000537859.1_Nonsense_Mutation_p.E868*|NLRP2_ENST00000538819.1_Nonsense_Mutation_p.E866*	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	890					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GTTTCTGTGTGAGGGCTTGAG	0.577																																																	0													138.0	138.0	138.0					19																	55502000		2203	4300	6503	SO:0001587	stop_gained	0			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.2668G>T	19.37:g.55502000G>T	ENSP00000445135:p.Glu890*		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Nonsense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.E890*	ENST00000543010.1	37	c.2668	CCDS12913.1	19	.	.	.	.	.	.	.	.	.	.	G	29.9	5.042244	0.93685	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	.	.	.	2.31	1.26	0.21427	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	5.0612	0.14559	0.1743:0.0:0.8257:0.0	.	.	.	.	X	890;866;868;890;868;867;866;887	.	ENSP00000263437:E887X	E	+	1	0	NLRP2	60193812	0.884000	0.30299	0.460000	0.27093	0.109000	0.19521	1.015000	0.29963	0.525000	0.28522	0.561000	0.74099	GAG	NLRP2	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000022556		0.577	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP2	HGNC	protein_coding	OTTHUMT00000396152.1		0.00	74	0	G	NM_017852		55502000	+1			no_errors	ENST00000448584	ensembl	human	known	74_37	nonsense	5.00	57	3	SNP	0.790	T
NMNAT2	23057	genome.wustl.edu	37	1	183253165	183253165	+	Missense_Mutation	SNP	G	G	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr1:183253165G>T	ENST00000287713.6	-	7	873	c.539C>A	c.(538-540)gCc>gAc	p.A180D	NMNAT2_ENST00000473046.1_5'UTR|NMNAT2_ENST00000294868.4_Missense_Mutation_p.A175D	NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2	180					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|late endosome (GO:0005770)|synapse (GO:0045202)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)	p.A180V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						GCCCAGATTGGCATTCTCATC	0.527																																																	1	Substitution - Missense(1)	lung(1)											138.0	115.0	123.0					1																	183253165		2203	4300	6503	SO:0001583	missense	0			AF288395	CCDS1353.1, CCDS1354.1	1q25	2008-02-05	2003-04-30	2003-05-02	ENSG00000157064	ENSG00000157064			16789	protein-coding gene	gene with protein product		608701	"""chromosome 1 open reading frame 15"""	C1orf15		11318611, 12359228	Standard	NM_015039		Approved	KIAA0479, PNAT2	uc001gqc.2	Q9BZQ4	OTTHUMG00000035519	ENST00000287713.6:c.539C>A	1.37:g.183253165G>T	ENSP00000287713:p.Ala180Asp		O75067|Q5T1Q3|Q8WU99|Q96QW1	Missense_Mutation	SNP	pfam_Cyt_trans-like	p.A180D	ENST00000287713.6	37	c.539	CCDS1353.1	1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740323	0.89573	.	.	ENSG00000157064	ENST00000287713;ENST00000294868	D;D	0.97575	-4.44;-4.31	5.71	5.71	0.89125	Cytidylyltransferase (1);	0.844592	0.11057	N	0.604409	D	0.97704	0.9247	L	0.43152	1.355	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.995;0.997	D	0.95325	0.8424	10	0.19590	T	0.45	-9.0264	19.4529	0.94875	0.0:0.0:1.0:0.0	.	180;180;175	A8K5S5;Q9BZQ4;Q9BZQ4-2	.;NMNA2_HUMAN;.	D	180;175	ENSP00000287713:A180D;ENSP00000294868:A175D	ENSP00000287713:A180D	A	-	2	0	NMNAT2	181519788	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.729000	0.91490	2.687000	0.91594	0.655000	0.94253	GCC	NMNAT2	-	pfam_Cyt_trans-like	ENSG00000157064		0.527	NMNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMNAT2	HGNC	protein_coding	OTTHUMT00000086255.1		0.00	21	0	G			183253165	-1			no_errors	ENST00000287713	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T
NOS2	4843	genome.wustl.edu	37	17	26116636	26116636	+	Silent	SNP	C	C	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr17:26116636C>T	ENST00000313735.6	-	3	422	c.189G>A	c.(187-189)acG>acA	p.T63T		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	63					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	TGACCTTTCCCGTCTCCACGA	0.572																																																	0													174.0	151.0	159.0					17																	26116636		2203	4300	6503	SO:0001819	synonymous_variant	0			U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.189G>A	17.37:g.26116636C>T			A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Silent	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.T63	ENST00000313735.6	37	c.189	CCDS11223.1	17																																																																																			NOS2	-	pirsf_NOS_euk	ENSG00000007171		0.572	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOS2	HGNC	protein_coding	OTTHUMT00000255597.1	-	0.00	15	0	C	NM_000625		26116636	-1	tier1	-	no_errors	ENST00000313735	ensembl	human	known	74_37	silent	31.58	13	6	SNP	0.000	T
NOTCH3	4854	genome.wustl.edu	37	19	15271859	15271859	+	Frame_Shift_Del	DEL	G	G	-			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr19:15271859delG	ENST00000263388.2	-	33	6655	c.6580delC	c.(6580-6582)cagfs	p.Q2194fs		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2194					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TTGAGCAGCTGGGGTCCCGGC	0.736																																																	0													3.0	5.0	4.0					19																	15271859		1904	3907	5811	SO:0001589	frameshift_variant	0			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.6580delC	19.37:g.15271859delG	ENSP00000263388:p.Gln2194fs		Q9UEB3|Q9UPL3|Q9Y6L8	Frame_Shift_Del	DEL	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.Q2194fs	ENST00000263388.2	37	c.6580	CCDS12326.1	19																																																																																			NOTCH3	-	pirsf_Notch	ENSG00000074181		0.736	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1		0.00	9	0	G	NM_000435		15271859	-1			no_errors	ENST00000263388	ensembl	human	known	74_37	frame_shift_del	33.33	4	2	DEL	0.993	0
NOTCH3	4854	genome.wustl.edu	37	19	15271870	15271870	+	Missense_Mutation	SNP	G	G	A	rs528151296		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr19:15271870G>A	ENST00000263388.2	-	33	6644	c.6569C>T	c.(6568-6570)gCg>gTg	p.A2190V		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2190					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GGGTCCCGGCGCCAGTGGCAG	0.726													G|||	1	0.000199681	0.0	0.0	5008	,	,		10547	0.001		0.0	False		,,,				2504	0.0																0													3.0	5.0	4.0					19																	15271870		1871	3845	5716	SO:0001583	missense	0			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.6569C>T	19.37:g.15271870G>A	ENSP00000263388:p.Ala2190Val		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.A2190V	ENST00000263388.2	37	c.6569	CCDS12326.1	19	.	.	.	.	.	.	.	.	.	.	G	7.893	0.732731	0.15507	.	.	ENSG00000074181	ENST00000263388	D	0.81821	-1.54	3.34	3.34	0.38264	.	.	.	.	.	T	0.61413	0.2345	N	0.19112	0.55	0.26270	N	0.978437	B	0.29612	0.251	B	0.14023	0.01	T	0.45673	-0.9245	9	0.07813	T	0.8	.	10.2417	0.43316	0.0:0.2033:0.7967:0.0	.	2190	Q9UM47	NOTC3_HUMAN	V	2190	ENSP00000263388:A2190V	ENSP00000263388:A2190V	A	-	2	0	NOTCH3	15132870	0.154000	0.22792	0.898000	0.35279	0.138000	0.21146	0.964000	0.29306	1.879000	0.54435	0.591000	0.81541	GCG	NOTCH3	-	pirsf_Notch	ENSG00000074181		0.726	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1		0.00	9	0	G	NM_000435		15271870	-1			no_errors	ENST00000263388	ensembl	human	known	74_37	missense	75.00	1	3	SNP	0.743	A
NRCAM	4897	genome.wustl.edu	37	7	107790554	107790554	+	Missense_Mutation	SNP	C	C	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr7:107790554C>T	ENST00000425651.2	-	30	3715	c.3716G>A	c.(3715-3717)cGa>cAa	p.R1239Q	NRCAM_ENST00000351718.4_Missense_Mutation_p.R1118Q|NRCAM_ENST00000379024.4_Missense_Mutation_p.R1127Q|NRCAM_ENST00000379028.3_Missense_Mutation_p.R1239Q|NRCAM_ENST00000413765.2_Missense_Mutation_p.R1115Q|NRCAM_ENST00000522550.2_5'UTR	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1239					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TGAAGGAGTTCGACTTCCTTT	0.398																																																	0													196.0	181.0	187.0					7																	107790554		2203	4300	6503	SO:0001583	missense	0				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.3716G>A	7.37:g.107790554C>T	ENSP00000401244:p.Arg1239Gln		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R1239Q	ENST00000425651.2	37	c.3716	CCDS47686.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.98|15.98	2.993614|2.993614	0.54041|0.54041	.|.	.|.	ENSG00000091129|ENSG00000091129	ENST00000445634|ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000437386;ENST00000351718;ENST00000379024;ENST00000425651	.|D;D;D;D;D	.|0.84730	.|-1.89;-1.89;-1.89;-1.89;-1.89	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79476|0.79476	0.4452|0.4452	N|N	0.01649|0.01649	-0.78|-0.78	0.80722|0.80722	D|D	1|1	.|P;B;D;P;P;B;D	.|0.63880	.|0.729;0.002;0.983;0.528;0.472;0.447;0.993	.|B;B;P;B;B;B;P	.|0.60415	.|0.117;0.007;0.874;0.131;0.08;0.047;0.68	T|T	0.79497|0.79497	-0.1779|-0.1779	5|10	.|0.15499	.|T	.|0.54	.|.	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1243;85;1115;1127;1118;1239;22	.|Q92823-5;B4DFP9;Q92823-3;E9PDA4;Q92823-4;Q92823;Q6QRP2	.|.;.;.;.;.;NRCAM_HUMAN;.	K|Q	138|1243;1239;1115;1146;83;1118;1127;1239	.|ENSP00000368314:R1239Q;ENSP00000407858:R1115Q;ENSP00000325269:R1118Q;ENSP00000368310:R1127Q;ENSP00000401244:R1239Q	.|ENSP00000325269:R1118Q	E|R	-|-	1|2	0|0	NRCAM|NRCAM	107577790|107577790	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.089000|6.089000	0.71384|0.71384	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAA|CGA	NRCAM	-	NULL	ENSG00000091129		0.398	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NRCAM	HGNC	protein_coding	OTTHUMT00000337942.2	-	0.00	52	0	C	NM_001037132		107790554	-1	tier1	-	no_errors	ENST00000379028	ensembl	human	known	74_37	missense	29.76	59	25	SNP	1.000	T
NRIP1	8204	genome.wustl.edu	37	21	16338230	16338230	+	Missense_Mutation	SNP	C	C	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr21:16338230C>A	ENST00000400202.1	-	3	2996	c.2284G>T	c.(2284-2286)Gac>Tac	p.D762Y	NRIP1_ENST00000400199.1_Missense_Mutation_p.D762Y|AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000318948.4_Missense_Mutation_p.D762Y			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	762	Interaction with ZNF366.|Repression domain 3.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		ATTTGTAAGTCATCACAAGGC	0.433																																																	0													117.0	112.0	114.0					21																	16338230		2203	4300	6503	SO:0001583	missense	0			X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.2284G>T	21.37:g.16338230C>A	ENSP00000383063:p.Asp762Tyr		Q8IWE8	Missense_Mutation	SNP	NULL	p.D762Y	ENST00000400202.1	37	c.2284	CCDS13568.1	21	.	.	.	.	.	.	.	.	.	.	C	28.1	4.893775	0.91889	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.12361	2.69;2.69;2.69	6.17	6.17	0.99709	.	0.186396	0.45361	D	0.000372	T	0.34395	0.0896	L	0.50333	1.59	0.54753	D	0.999989	D	0.76494	0.999	D	0.65874	0.939	T	0.00231	-1.1896	10	0.66056	D	0.02	-35.3353	20.8794	0.99867	0.0:1.0:0.0:0.0	.	762	P48552	NRIP1_HUMAN	Y	762	ENSP00000383060:D762Y;ENSP00000383063:D762Y;ENSP00000327213:D762Y	ENSP00000327213:D762Y	D	-	1	0	NRIP1	15260101	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.230000	0.65321	2.941000	0.99782	0.655000	0.94253	GAC	NRIP1	-	NULL	ENSG00000180530		0.433	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NRIP1	HGNC	protein_coding	OTTHUMT00000157926.1	-	0.00	34	0	C	NM_003489		16338230	-1	tier1	-	no_errors	ENST00000318948	ensembl	human	known	74_37	missense	27.50	29	11	SNP	1.000	A
OOEP	441161	genome.wustl.edu	37	6	74079535	74079535	+	5'Flank	SNP	G	G	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr6:74079535G>A	ENST00000370359.5	-	0	0				OOEP-AS1_ENST00000445350.2_RNA|OOEP_ENST00000370363.1_Intron	NM_001080507.2	NP_001073976.1	A6NGQ2	OOEP_HUMAN	oocyte expressed protein						cellular protein complex assembly (GO:0043623)|embryo implantation (GO:0007566)|embryonic pattern specification (GO:0009880)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|protein phosphorylation (GO:0006468)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|protein complex (GO:0043234)	RNA binding (GO:0003723)			large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						AGCAGCCGCGGAGCGCGCTCG	0.657																																																	0													31.0	37.0	35.0					6																	74079535		2069	4213	6282	SO:0001631	upstream_gene_variant	0			BC024931	CCDS47451.1	6q13	2012-02-22	2012-02-22	2007-11-13	ENSG00000203907	ENSG00000203907			21382	protein-coding gene	gene with protein product	"""KH homology domain containing 2"""	611689	"""chromosome 6 open reading frame 156"", ""oocyte expressed protein homolog (dog)"""	C6orf156		17913455	Standard	NM_001080507		Approved	Em:AC019205.2, KHDC2	uc003pgu.4	A6NGQ2	OTTHUMG00000150057		6.37:g.74079535G>A	Exception_encountered		A6NIN5|A9UIB7	RNA	SNP	-	NULL	ENST00000370359.5	37	NULL	CCDS47451.1	6																																																																																			OOEP-AS1	-	-	ENSG00000231332		0.657	OOEP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	OOEP-AS1	HGNC	protein_coding	OTTHUMT00000108414.2	-	0.00	32	0	G	NM_001080507		74079535	+1	tier1	-	no_errors	ENST00000445350	ensembl	human	known	74_37	rna	24.24	25	8	SNP	0.001	A
OPN1SW	611	genome.wustl.edu	37	7	128414669	128414669	+	Silent	SNP	G	G	T	rs367950991		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr7:128414669G>T	ENST00000249389.2	-	3	569	c.570C>A	c.(568-570)acC>acA	p.T190T		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	190					phototransduction (GO:0007602)|phototransduction, visible light (GO:0007603)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)|receptor activity (GO:0004872)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						TGGTGCCCACGGTGTACCAGT	0.552																																																	0													124.0	98.0	107.0					7																	128414669		2203	4300	6503	SO:0001819	synonymous_variant	0			U53874	CCDS5806.1	7q31.3-q32	2013-01-08	2008-04-16		ENSG00000128617	ENSG00000128617		"""GPCR / Class A : Opsin receptors"""	1012	protein-coding gene	gene with protein product	"""color blindness, tritan"", ""blue-sensitive opsin"""	613522	"""blue cone photoreceptor pigment"""	BCP		2937147, 8270261	Standard	NM_001708		Approved	BOP, CBT	uc003vnt.4	P03999	OTTHUMG00000158311	ENST00000249389.2:c.570C>A	7.37:g.128414669G>T			Q13877	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_blue,prints_GPCR_Rhodpsn,prints_Opsin	p.T190	ENST00000249389.2	37	c.570	CCDS5806.1	7																																																																																			OPN1SW	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_blue	ENSG00000128617		0.552	OPN1SW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN1SW	HGNC	protein_coding	OTTHUMT00000350655.1		0.00	34	0	G	NM_001708		128414669	-1			no_errors	ENST00000249389	ensembl	human	known	74_37	silent	5.41	35	2	SNP	0.905	T
OR2T7	81458	genome.wustl.edu	37	1	248605124	248605124	+	Missense_Mutation	SNP	C	C	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr1:248605124C>T	ENST00000460972.3	+	1	617	c.617C>T	c.(616-618)tCg>tTg	p.S206L				P0C7T2	OR2T7_HUMAN	olfactory receptor, family 2, subfamily T, member 7	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)										TCTGTGATCTCGGGCTCTTAC	0.522																																																	0																																										SO:0001583	missense	0					1q44	2013-09-05		2004-03-10	ENSG00000227152	ENSG00000227152		"""GPCR / Class A : Olfactory receptors"""	15019	protein-coding gene	gene with protein product				OR2T7P			Standard	NG_004272		Approved	OST723		P0C7T2	OTTHUMG00000040449	ENST00000460972.3:c.617C>T	1.37:g.248605124C>T	ENSP00000475521:p.Ser206Leu			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S206L	ENST00000460972.3	37	c.617		1																																																																																			OR2T7	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000227152		0.522	OR2T7-001	KNOWN	basic|appris_principal	protein_coding	OR2T7	HGNC	protein_coding	OTTHUMT00000097345.3	-	0.00	41	0	C			248605124	+1	tier1	-	no_errors	ENST00000460972	ensembl	human	known	74_37	missense	20.37	43	11	SNP	0.007	T
OR51L1	119682	genome.wustl.edu	37	11	5020651	5020651	+	Missense_Mutation	SNP	G	G	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr11:5020651G>T	ENST00000321543.1	+	1	439	c.439G>T	c.(439-441)Ggt>Tgt	p.G147C		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCAAAATTGGTTTGGCCTG	0.507																																																	0													316.0	275.0	289.0					11																	5020651		2201	4298	6499	SO:0001583	missense	0			AB065799	CCDS31369.1	11p15.4	2012-08-09			ENSG00000176798	ENSG00000176798		"""GPCR / Class A : Olfactory receptors"""	14759	protein-coding gene	gene with protein product							Standard	NM_001004755		Approved		uc010qyu.2	Q8NGJ5	OTTHUMG00000066605	ENST00000321543.1:c.439G>T	11.37:g.5020651G>T	ENSP00000322156:p.Gly147Cys		Q6IFE5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G147C	ENST00000321543.1	37	c.439	CCDS31369.1	11	.	.	.	.	.	.	.	.	.	.	G	10.83	1.462385	0.26248	.	.	ENSG00000176798	ENST00000321543	T	0.35236	1.32	5.18	5.18	0.71444	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45126	D	0.000384	T	0.60689	0.2288	M	0.88181	2.935	0.09310	N	1	D	0.56035	0.974	P	0.60541	0.876	T	0.60224	-0.7305	10	0.87932	D	0	.	11.1631	0.48526	0.0:0.0:0.8166:0.1833	.	147	Q8NGJ5	O51L1_HUMAN	C	147	ENSP00000322156:G147C	ENSP00000322156:G147C	G	+	1	0	OR51L1	4977227	1.000000	0.71417	0.979000	0.43373	0.046000	0.14306	5.823000	0.69272	2.685000	0.91497	0.557000	0.71058	GGT	OR51L1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176798		0.507	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51L1	HGNC	protein_coding	OTTHUMT00000142812.1	-	0.00	42	0	G	NM_001004755		5020651	+1	tier1	-	no_errors	ENST00000321543	ensembl	human	known	74_37	missense	32.69	35	17	SNP	0.107	T
OR4C16	219428	genome.wustl.edu	37	11	55339899	55339899	+	Missense_Mutation	SNP	T	T	C			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr11:55339899T>C	ENST00000314634.3	+	1	296	c.296T>C	c.(295-297)gTc>gCc	p.V99A		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				ATGATCCAAGTCTTTTCATCC	0.473																																																	0													249.0	239.0	243.0					11																	55339899		2201	4296	6497	SO:0001583	missense	0			AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"""GPCR / Class A : Olfactory receptors"""	15172	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 16"""				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.296T>C	11.37:g.55339899T>C	ENSP00000324913:p.Val99Ala		Q6IEV8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V99A	ENST00000314634.3	37	c.296	CCDS31502.1	11	.	.	.	.	.	.	.	.	.	.	T	14.25	2.478737	0.44044	.	.	ENSG00000181935	ENST00000314634	T	0.02890	4.12	4.98	4.98	0.66077	GPCR, rhodopsin-like superfamily (1);	0.350691	0.24717	N	0.036163	T	0.05502	0.0145	L	0.44542	1.39	0.09310	N	1	P	0.41313	0.745	P	0.45794	0.493	T	0.18023	-1.0350	10	0.66056	D	0.02	.	12.6625	0.56822	0.0:0.0:0.0:1.0	.	99	Q8NGL9	OR4CG_HUMAN	A	99	ENSP00000324913:V99A	ENSP00000324913:V99A	V	+	2	0	OR4C16	55096475	0.200000	0.23398	0.065000	0.19835	0.640000	0.38277	1.923000	0.40055	2.097000	0.63578	0.448000	0.29417	GTC	OR4C16	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000181935		0.473	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C16	HGNC	protein_coding	OTTHUMT00000382627.1	-	0.00	42	0	T	NM_001004701		55339899	+1	tier1	-	no_errors	ENST00000314634	ensembl	human	known	74_37	missense	36.00	32	18	SNP	0.364	C
OSTCP1	202459	genome.wustl.edu	37	6	159262512	159262512	+	RNA	DEL	A	A	-			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr6:159262512delA	ENST00000522287.1	-	0	831					NR_028496.1				oligosaccharyltransferase complex subunit pseudogene 1																		TCAGCAGGGGAAAAAAAAATA	0.328																																																	0																																												0			BC024224		6q25.3	2011-09-02	2011-09-02	2011-09-02	ENSG00000243775	ENSG00000243775			30530	pseudogene	pseudogene	"""DC2 protein-like"""		"""oligosaccharyltransferase complex subunit-like"""	OSTCL		12477932	Standard	NR_028496		Approved	DC2L	uc003qrw.4		OTTHUMG00000015919		6.37:g.159262512delA				RNA	DEL	-	NULL	ENST00000522287.1	37	NULL		6																																																																																			OSTCP1	-	-	ENSG00000243775		0.328	OSTCP1-002	KNOWN	basic	processed_transcript	OSTCP1	HGNC	pseudogene	OTTHUMT00000042884.2		0.00	14	0	A	NM_145303		159262512	-1	tier1		no_errors	ENST00000522287	ensembl	human	known	74_37	rna	11.11	16	2	DEL	0.001	-
PABPC5	140886	genome.wustl.edu	37	X	90690686	90690686	+	Missense_Mutation	SNP	A	A	C			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chrX:90690686A>C	ENST00000312600.3	+	2	324	c.110A>C	c.(109-111)aAg>aCg	p.K37T	PABPC5-AS1_ENST00000456187.1_RNA|PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	37	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CTCTATAAGAAGTTCAGGCCT	0.572																																																	0													57.0	45.0	49.0					X																	90690686		2203	4300	6503	SO:0001583	missense	0			AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.110A>C	X.37:g.90690686A>C	ENSP00000308012:p.Lys37Thr		A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234	p.K37T	ENST00000312600.3	37	c.110	CCDS14460.1	X	.	.	.	.	.	.	.	.	.	.	A	15.41	2.826377	0.50739	.	.	ENSG00000174740	ENST00000312600;ENST00000402906	T	0.15372	2.43	4.43	4.43	0.53597	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.24928	0.0605	N	0.20610	0.595	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.03025	-1.1081	10	0.54805	T	0.06	.	10.9829	0.47506	1.0:0.0:0.0:0.0	.	37	Q96DU9	PABP5_HUMAN	T	37;5	ENSP00000308012:K37T	ENSP00000308012:K37T	K	+	2	0	PABPC5	90577342	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.747000	0.91610	1.957000	0.56846	0.486000	0.48141	AAG	PABPC5	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234	ENSG00000174740		0.572	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC5	HGNC	protein_coding	OTTHUMT00000057429.1	-	0.00	28	0	A	NM_080832		90690686	+1	tier1	-	no_errors	ENST00000312600	ensembl	human	known	74_37	missense	61.54	10	16	SNP	1.000	C
PBRM1	55193	genome.wustl.edu	37	3	52651338	52651338	+	Missense_Mutation	SNP	C	C	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr3:52651338C>A	ENST00000296302.7	-	14	1759	c.1758G>T	c.(1756-1758)atG>atT	p.M586I	PBRM1_ENST00000356770.4_Missense_Mutation_p.M554I|PBRM1_ENST00000409057.1_Missense_Mutation_p.M586I|PBRM1_ENST00000409767.1_Missense_Mutation_p.M601I|PBRM1_ENST00000394830.3_Missense_Mutation_p.M586I|PBRM1_ENST00000409114.3_Missense_Mutation_p.M601I|PBRM1_ENST00000337303.4_Missense_Mutation_p.M586I|PBRM1_ENST00000410007.1_Missense_Mutation_p.M586I			Q86U86	PB1_HUMAN	polybromo 1	586	Bromo 4. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.M586I(2)|p.M554I(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TGTCTTCTATCATTCCCTCTT	0.448			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Missense(3)	breast(3)											116.0	106.0	109.0					3																	52651338		2203	4300	6503	SO:0001583	missense	0			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1758G>T	3.37:g.52651338C>A	ENSP00000296302:p.Met586Ile		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain	p.M586I	ENST00000296302.7	37	c.1758		3	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211603	0.58452	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.65;1.65;1.65;1.65;1.65;1.65	5.84	5.84	0.93424	Bromodomain (5);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.50548	0.1622	L	0.45228	1.405	0.58432	D	0.999998	B;B;P;B;B;B;B;B;P	0.44986	0.184;0.288;0.518;0.093;0.031;0.288;0.108;0.028;0.847	B;B;P;B;B;B;B;B;D	0.67103	0.129;0.323;0.768;0.095;0.026;0.238;0.086;0.038;0.949	T	0.15752	-1.0426	10	0.34782	T	0.22	-18.2278	20.139	0.98050	0.0:1.0:0.0:0.0	.	586;586;586;586;601;601;586;554;586	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	I	554;586;586;586;586;586;601;601;586;545	ENSP00000349213:M554I;ENSP00000378307:M586I;ENSP00000296302:M586I;ENSP00000338302:M586I;ENSP00000386593:M586I;ENSP00000386529:M586I;ENSP00000386643:M601I;ENSP00000386601:M601I;ENSP00000387775:M586I;ENSP00000397662:M545I	ENSP00000296302:M586I	M	-	3	0	PBRM1	52626378	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.838000	0.62803	2.764000	0.94973	0.655000	0.94253	ATG	PBRM1	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain	ENSG00000163939		0.448	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	PBRM1	HGNC	protein_coding	OTTHUMT00000327232.1	-	0.00	46	0	C	NM_018165		52651338	-1	tier1	-	no_errors	ENST00000296302	ensembl	human	known	74_37	missense	47.50	21	19	SNP	1.000	A
PCDHA11	56138	genome.wustl.edu	37	5	140250526	140250526	+	Missense_Mutation	SNP	C	C	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr5:140250526C>T	ENST00000398640.2	+	1	1838	c.1838C>T	c.(1837-1839)gCg>gTg	p.A613V	PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	613	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCAGCCGGCGGCGGGCGGC	0.682																																																	0													46.0	56.0	53.0					5																	140250526		2202	4299	6501	SO:0001583	missense	0			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1838C>T	5.37:g.140250526C>T	ENSP00000381636:p.Ala613Val		B2RN58|O75279	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A613V	ENST00000398640.2	37	c.1838	CCDS47284.1	5	.	.	.	.	.	.	.	.	.	.	C	1.145	-0.648476	0.03506	.	.	ENSG00000249158	ENST00000398640	T	0.38560	1.13	4.78	-1.53	0.08611	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.26412	0.0645	L	0.31526	0.94	0.09310	N	1	B;B	0.17268	0.021;0.015	B;B	0.18263	0.021;0.014	T	0.26395	-1.0104	9	0.59425	D	0.04	.	4.3784	0.11281	0.3768:0.36:0.1914:0.0719	.	613;613	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	V	613	ENSP00000381636:A613V	ENSP00000381636:A613V	A	+	2	0	PCDHA11	140230710	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.458000	0.21892	-0.161000	0.10983	-0.224000	0.12420	GCG	PCDHA11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000249158		0.682	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA11	HGNC	protein_coding	OTTHUMT00000372885.2	-	0.00	83	0	C	NM_018902		140250526	+1	tier1	-	no_errors	ENST00000398640	ensembl	human	known	74_37	missense	67.07	26	55	SNP	0.000	T
PCDHB6	56130	genome.wustl.edu	37	5	140531569	140531569	+	Silent	SNP	G	G	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr5:140531569G>A	ENST00000231136.1	+	1	1731	c.1731G>A	c.(1729-1731)gcG>gcA	p.A577A	PCDHB6_ENST00000543635.1_Silent_p.A441A	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	577	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCCCCGGGCGGCCGAGCCGG	0.697																																																	0													11.0	17.0	15.0					5																	140531569		1762	3721	5483	SO:0001819	synonymous_variant	0			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1731G>A	5.37:g.140531569G>A			B2R8R9	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A577	ENST00000231136.1	37	c.1731	CCDS4248.1	5	.	.	.	.	.	.	.	.	.	.	G	7.224	0.598012	0.13939	.	.	ENSG00000113211	ENST00000542861	.	.	.	4.19	-0.436	0.12275	.	.	.	.	.	T	0.57710	0.2072	.	.	.	0.43283	D	0.995254	.	.	.	.	.	.	T	0.57277	-0.7839	5	0.87932	D	0	.	4.2358	0.10625	0.0766:0.1277:0.4032:0.3926	.	.	.	.	Q	362	.	ENSP00000438850:R362Q	R	+	2	0	PCDHB6	140511753	.	.	0.983000	0.44433	0.928000	0.56348	.	.	-0.006000	0.14370	0.556000	0.70494	CGG	PCDHB6	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000113211		0.697	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB6	HGNC	protein_coding	OTTHUMT00000251818.2	-	0.00	98	0	G	NM_018939		140531569	+1	tier1	-	no_errors	ENST00000231136	ensembl	human	known	74_37	silent	61.11	21	33	SNP	0.064	A
PCNT	5116	genome.wustl.edu	37	21	47786667	47786667	+	Silent	SNP	G	G	A	rs149992133		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr21:47786667G>A	ENST00000359568.5	+	15	2885	c.2778G>A	c.(2776-2778)gcG>gcA	p.A926A	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	926					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACCAGGCCGCGTTGGGCGAGC	0.662																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	34.0	37.0	36.0		2778	1.7	0.0	21	dbSNP_134	36	0,8600		0,0,4300	no	coding-synonymous	PCNT	NM_006031.5		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		926/3337	47786667	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.2778G>A	21.37:g.47786667G>A			O43152|Q7Z7C9	Silent	SNP	pfam_PACT_domain	p.A926	ENST00000359568.5	37	c.2778	CCDS33592.1	21																																																																																			PCNT	-	NULL	ENSG00000160299		0.662	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	-	0.00	22	0	G	NM_006031		47786667	+1	tier1	rs149992133	no_errors	ENST00000359568	ensembl	human	known	74_37	silent	27.59	21	8	SNP	0.001	A
PDE1A	5136	genome.wustl.edu	37	2	183387015	183387015	+	Missense_Mutation	SNP	C	C	T	rs137961386	byFrequency	TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr2:183387015C>T	ENST00000410103.1	-	2	172	c.89G>A	c.(88-90)cGc>cAc	p.R30H	PDE1A_ENST00000456212.1_Missense_Mutation_p.R30H|PDE1A_ENST00000358139.2_Missense_Mutation_p.R30H|PDE1A_ENST00000435564.1_Missense_Mutation_p.R30H|PDE1A_ENST00000331935.6_Missense_Mutation_p.R30H|PDE1A_ENST00000536095.1_5'UTR	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	30	Calmodulin-binding. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	TCCTTTCAGGCGCTGCCACAT	0.418																																																	0								C	HIS/ARG,HIS/ARG	2,4402	4.2+/-10.8	0,2,2200	130.0	130.0	130.0		89,89	4.7	1.0	2	dbSNP_134	130	18,8582	12.6+/-44.7	0,18,4282	no	missense,missense	PDE1A	NM_001003683.1,NM_005019.3	29,29	0,20,6482	TT,TC,CC		0.2093,0.0454,0.1538	probably-damaging,probably-damaging	30/536,30/546	183387015	20,12984	2202	4300	6502	SO:0001583	missense	0				CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"""Phosphodiesterases"""	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.89G>A	2.37:g.183387015C>T	ENSP00000387037:p.Arg30His		D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,superfamily_GRIP,smart_HD/PDEase_dom,prints_PDEase	p.R30H	ENST00000410103.1	37	c.89	CCDS33344.1	2	.	.	.	.	.	.	.	.	.	.	C	19.58	3.855001	0.71719	4.54E-4	0.002093	ENSG00000115252	ENST00000435564;ENST00000331935;ENST00000410103;ENST00000358139;ENST00000456212	T;T;T;T;T	0.72615	-0.67;-0.67;-0.66;-0.66;-0.67	5.73	4.67	0.58626	.	0.501527	0.21396	N	0.075229	T	0.75722	0.3888	L	0.48642	1.525	0.40562	D	0.981228	D;D	0.57571	0.966;0.98	P;P	0.56960	0.65;0.81	T	0.78140	-0.2320	10	0.66056	D	0.02	.	14.7116	0.69238	0.0:0.9182:0.0:0.0818	.	30;30	P54750;P54750-4	PDE1A_HUMAN;.	H	30	ENSP00000410309:R30H;ENSP00000331574:R30H;ENSP00000387037:R30H;ENSP00000350858:R30H;ENSP00000408874:R30H	ENSP00000331574:R30H	R	-	2	0	PDE1A	183095260	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.753000	0.55180	2.714000	0.92807	0.591000	0.81541	CGC	PDE1A	-	superfamily_GRIP	ENSG00000115252		0.418	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	PDE1A	HGNC	protein_coding	OTTHUMT00000334356.1	-	0.00	65	0	C			183387015	-1	tier1	rs137961386	no_errors	ENST00000456212	ensembl	human	known	74_37	missense	13.22	105	16	SNP	1.000	T
PDZRN3	23024	genome.wustl.edu	37	3	73433188	73433188	+	Silent	SNP	G	G	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr3:73433188G>A	ENST00000263666.4	-	10	2643	c.2529C>T	c.(2527-2529)agC>agT	p.S843S	PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000466780.1_Silent_p.S500S|PDZRN3_ENST00000479530.1_Silent_p.S560S|PDZRN3_ENST00000462146.2_Silent_p.S500S|PDZRN3_ENST00000535920.1_Silent_p.S565S	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	843					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GGCTCCCGTCGCTGGCTCTCC	0.662																																																	0													37.0	43.0	41.0					3																	73433188		2202	4300	6502	SO:0001819	synonymous_variant	0			AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2529C>T	3.37:g.73433188G>A			A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF	p.S843	ENST00000263666.4	37	c.2529	CCDS33789.1	3																																																																																			PDZRN3	-	NULL	ENSG00000121440		0.662	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN3	HGNC	protein_coding	OTTHUMT00000352460.1	-	0.00	45	0	G	XM_041363		73433188	-1	tier1	-	no_errors	ENST00000263666	ensembl	human	known	74_37	silent	7.84	47	4	SNP	0.361	A
PGBD5	79605	genome.wustl.edu	37	1	230472897	230472897	+	Silent	SNP	G	G	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr1:230472897G>T	ENST00000525115.1	-	4	848	c.825C>A	c.(823-825)ccC>ccA	p.P275P	PGBD5_ENST00000321327.2_Silent_p.P374P|PGBD5_ENST00000391860.1_Silent_p.P229P|PGBD5_ENST00000530424.1_5'Flank			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	275						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		TGGTGATGCTGGGCCCCGTGA	0.587																																																	0													107.0	98.0	101.0					1																	230472897		2203	4300	6503	SO:0001819	synonymous_variant	0			AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.825C>A	1.37:g.230472897G>T			A0PJF3|B9EK58|Q5SR37|Q6PJN2	Silent	SNP	NULL	p.P374	ENST00000525115.1	37	c.1122		1																																																																																			PGBD5	-	NULL	ENSG00000177614		0.587	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	PGBD5	HGNC	protein_coding	OTTHUMT00000382617.1	-	0.00	39	0	G	NM_024554		230472897	-1	tier1	-	no_errors	ENST00000321327	ensembl	human	known	74_37	silent	38.00	31	19	SNP	1.000	T
PITPNM1	9600	genome.wustl.edu	37	11	67265453	67265453	+	Missense_Mutation	SNP	C	C	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr11:67265453C>T	ENST00000534749.1	-	11	1905	c.1717G>A	c.(1717-1719)Gat>Aat	p.D573N	PITPNM1_ENST00000356404.3_Missense_Mutation_p.D573N|PITPNM1_ENST00000436757.2_Missense_Mutation_p.D573N			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	573					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CAGAGTGCATCAAAGCCCAGG	0.642																																					GBM(28;144 709 4607 5525)												0													55.0	51.0	52.0					11																	67265453		2200	4295	6495	SO:0001583	missense	0			X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.1717G>A	11.37:g.67265453C>T	ENSP00000437286:p.Asp573Asn		A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP	pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer	p.D573N	ENST00000534749.1	37	c.1717	CCDS31620.1	11	.	.	.	.	.	.	.	.	.	.	c	22.0	4.224093	0.79576	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404	T;T;T	0.66099	-0.18;-0.19;-0.18	3.98	3.98	0.46160	.	0.000000	0.44688	D	0.000436	T	0.79986	0.4541	M	0.83384	2.64	0.53005	D	0.999969	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.83970	0.0326	10	0.87932	D	0	-17.3274	15.1894	0.73032	0.0:1.0:0.0:0.0	.	573;573	O00562-2;O00562	.;PITM1_HUMAN	N	573	ENSP00000437286:D573N;ENSP00000398787:D573N;ENSP00000348772:D573N	ENSP00000348772:D573N	D	-	1	0	PITPNM1	67022029	1.000000	0.71417	0.950000	0.38849	0.587000	0.36485	7.476000	0.81055	2.235000	0.73313	0.556000	0.70494	GAT	PITPNM1	-	NULL	ENSG00000110697		0.642	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	PITPNM1	HGNC	protein_coding	OTTHUMT00000395520.1	-	0.00	64	0	C	NM_004910		67265453	-1	tier1	-	no_errors	ENST00000356404	ensembl	human	known	74_37	missense	29.11	56	23	SNP	1.000	T
PLAC1	10761	genome.wustl.edu	37	X	133700357	133700358	+	Frame_Shift_Ins	INS	-	-	G			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chrX:133700357_133700358insG	ENST00000359237.4	-	3	640_641	c.355_356insC	c.(355-357)caafs	p.Q119fs	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1			placenta-specific 1											large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					TGGGGACTTTTGGGGGGCAGCA	0.53																																																	0																																										SO:0001589	frameshift_variant	0			AF234654	CCDS14642.1	Xq26.3	2013-10-14			ENSG00000170965	ENSG00000170965			9044	protein-coding gene	gene with protein product	"""cancer/testis antigen 92"""	300296				10995572	Standard	NM_021796		Approved	CT92, OOSP2L	uc004exo.1	Q9HBJ0	OTTHUMG00000022457	ENST00000359237.4:c.356dupC	X.37:g.133700363_133700363dupG	ENSP00000352173:p.Gln119fs			Frame_Shift_Ins	INS	NULL	p.Q119fs	ENST00000359237.4	37	c.356_355	CCDS14642.1	X																																																																																			PLAC1	-	NULL	ENSG00000170965		0.530	PLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAC1	HGNC	protein_coding	OTTHUMT00000058375.1		0.00	26	0	-	NM_021796		133700358	-1	tier1		no_errors	ENST00000359237	ensembl	human	known	74_37	frame_shift_ins	39.39	20	13	INS	0.000:0.000	G
PNLIPRP3	119548	genome.wustl.edu	37	10	118236283	118236283	+	Missense_Mutation	SNP	A	A	C			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr10:118236283A>C	ENST00000369230.3	+	11	1438	c.1292A>C	c.(1291-1293)aAg>aCg	p.K431T		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	431	PLAT.				lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		TCTCAGAATAAGTTGGGAGCA	0.303																																																	0													95.0	99.0	97.0					10																	118236283		2203	4300	6503	SO:0001583	missense	0			BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.1292A>C	10.37:g.118236283A>C	ENSP00000358232:p.Lys431Thr			Missense_Mutation	SNP	pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc	p.K431T	ENST00000369230.3	37	c.1292	CCDS31292.1	10	.	.	.	.	.	.	.	.	.	.	A	10.46	1.356734	0.24598	.	.	ENSG00000203837	ENST00000369230	T	0.65549	-0.16	4.13	1.42	0.22433	Lipoxygenase, LH2 (2);Lipase/lipooxygenase, PLAT/LH2 (1);	0.581864	0.14711	N	0.302929	T	0.47192	0.1432	L	0.33137	0.985	0.21064	N	0.999796	P	0.37370	0.592	B	0.37091	0.241	T	0.28267	-1.0049	10	0.33141	T	0.24	.	8.7727	0.34742	0.6344:0.3656:0.0:0.0	.	431	Q17RR3	LIPR3_HUMAN	T	431	ENSP00000358232:K431T	ENSP00000358232:K431T	K	+	2	0	PNLIPRP3	118226273	0.572000	0.26668	0.480000	0.27341	0.476000	0.33039	0.250000	0.18235	0.670000	0.31165	0.533000	0.62120	AAG	PNLIPRP3	-	pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH	ENSG00000203837		0.303	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNLIPRP3	HGNC	protein_coding	OTTHUMT00000050520.1	-	0.00	127	0	A	XM_058404		118236283	+1	tier1	-	no_errors	ENST00000369230	ensembl	human	known	74_37	missense	33.72	114	58	SNP	0.620	C
POLE	5426	genome.wustl.edu	37	12	133233956	133233956	+	Silent	SNP	G	G	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr12:133233956G>T	ENST00000320574.5	-	28	3481	c.3438C>A	c.(3436-3438)acC>acA	p.T1146T	POLE_ENST00000535270.1_Silent_p.T1119T	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1146					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|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)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CCGCAGGGATGGTGATGATCT	0.572								DNA polymerases (catalytic subunits)																																									0													66.0	64.0	65.0					12																	133233956		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.3438C>A	12.37:g.133233956G>T			Q13533|Q86VH9	Silent	SNP	pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	p.T1146	ENST00000320574.5	37	c.3438	CCDS9278.1	12																																																																																			POLE	-	NULL	ENSG00000177084		0.572	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	HGNC	protein_coding	OTTHUMT00000397689.2	-	0.00	43	0	G	NM_006231		133233956	-1	tier1	-	no_errors	ENST00000320574	ensembl	human	known	74_37	silent	13.04	20	3	SNP	0.084	T
POU2F3	25833	genome.wustl.edu	37	11	120169099	120169099	+	Splice_Site	SNP	G	G	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr11:120169099G>T	ENST00000543440.2	+	4	408	c.258G>T	c.(256-258)caG>caT	p.Q86H	POU2F3_ENST00000260264.4_Splice_Site_p.Q88H	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	86					epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		GCCCATGTCAGGTAACACTGT	0.532																																																	0													119.0	113.0	115.0					11																	120169099		2203	4300	6503	SO:0001630	splice_region_variant	0			AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709		"""Homeoboxes / POU class"""	19864	protein-coding gene	gene with protein product		607394	"""POU domain class 2, transcription factor 3"""			10473598	Standard	NM_014352		Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000543440.2:c.258+1G>T	11.37:g.120169099G>T			A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU,prints_TF_octamer	p.Q88H	ENST00000543440.2	37	c.264	CCDS8431.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.49|18.49	3.635160|3.635160	0.67130|0.67130	.|.	.|.	ENSG00000137709|ENSG00000137709	ENST00000533620|ENST00000543440;ENST00000260264	.|D;D	.|0.83250	.|-1.7;-1.69	4.06|4.06	-1.92|-1.92	0.07618|0.07618	.|.	.|2.182450	.|0.01829	.|N	.|0.034548	.|T	.|0.73024	.|0.3534	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	.|T	.|0.57207	.|-0.7851	.|10	0.72032|0.48119	D|T	0.01|0.1	.|.	6.5422|6.5422	0.22387|0.22387	0.0981:0.0:0.2734:0.6286|0.0981:0.0:0.2734:0.6286	.|.	.|86	.|Q9UKI9	.|PO2F3_HUMAN	X|H	25|88;86	.|ENSP00000441687:Q88H;ENSP00000260264:Q86H	ENSP00000435738:G25X|ENSP00000260264:Q86H	G|Q	+|+	1|3	0|2	POU2F3|POU2F3	119674309|119674309	0.021000|0.021000	0.18746|0.18746	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	0.501000|0.501000	0.22578|0.22578	-0.662000|-0.662000	0.05338|0.05338	-0.897000|-0.897000	0.02905|0.02905	GGA|CAG	POU2F3	-	prints_TF_octamer	ENSG00000137709		0.532	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU2F3	HGNC	protein_coding	OTTHUMT00000388039.2		0.00	30	0	G		Missense_Mutation	120169099	+1			no_errors	ENST00000260264	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.001	T
PPA2	27068	genome.wustl.edu	37	4	106317440	106317440	+	Missense_Mutation	SNP	G	G	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr4:106317440G>A	ENST00000341695.5	-	9	865	c.835C>T	c.(835-837)Ctt>Ttt	p.L279F	PPA2_ENST00000348706.5_Missense_Mutation_p.L250F|PPA2_ENST00000357415.4_Missense_Mutation_p.L294F|PPA2_ENST00000380004.2_Missense_Mutation_p.L261F|PPA2_ENST00000432483.2_Missense_Mutation_p.L177F|PPA2_ENST00000354147.3_Missense_Mutation_p.L113F|PPA2_ENST00000509426.1_5'Flank	NM_176869.2	NP_789845.1	Q9H2U2	IPYR2_HUMAN	pyrophosphatase (inorganic) 2	279					diphosphate metabolic process (GO:0071344)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	inorganic diphosphatase activity (GO:0004427)|magnesium ion binding (GO:0000287)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	11		Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.03e-07)		TTCTTCATAAGCAATGCTTTC	0.294																																																	0													96.0	91.0	93.0					4																	106317440		2203	4296	6499	SO:0001583	missense	0				CCDS3667.1, CCDS3668.2, CCDS3669.2, CCDS34043.1	4q25	2005-10-07			ENSG00000138777	ENSG00000138777			28883	protein-coding gene	gene with protein product		609988				11042152	Standard	NM_176869		Approved	FLJ20459	uc003hxl.3	Q9H2U2	OTTHUMG00000128781	ENST00000341695.5:c.835C>T	4.37:g.106317440G>A	ENSP00000343885:p.Leu279Phe		B4DLP7|F8WDN9|I6L9B6|Q4W5E9|Q6PG51|Q8TBW0|Q96E55|Q9H0T0|Q9NX37|Q9P033|Q9ULX0	Missense_Mutation	SNP	pfam_Pyrophosphatase,superfamily_Pyrophosphatase	p.L294F	ENST00000341695.5	37	c.880	CCDS3667.1	4	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494086	0.64186	.	.	ENSG00000138777	ENST00000341695;ENST00000348706;ENST00000354147;ENST00000432483;ENST00000357415;ENST00000380004	T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89	5.93	4.16	0.48862	.	0.205916	0.42420	D	0.000710	T	0.59224	0.2178	L	0.53249	1.67	0.80722	D	1	D;D;P;P;P	0.65815	0.995;0.995;0.886;0.955;0.819	D;D;P;P;B	0.66979	0.923;0.948;0.637;0.638;0.434	T	0.61540	-0.7042	10	0.59425	D	0.04	-17.6208	16.534	0.84368	0.0:0.381:0.619:0.0	.	113;177;250;261;279	Q9H2U2-4;F8WDN9;Q9H2U2-3;E2QRM6;Q9H2U2	.;.;.;.;IPYR2_HUMAN	F	279;250;113;177;294;261	ENSP00000343885:L279F;ENSP00000313061:L250F;ENSP00000340352:L113F;ENSP00000389957:L177F;ENSP00000349996:L294F;ENSP00000369340:L261F	ENSP00000343885:L279F	L	-	1	0	PPA2	106536889	1.000000	0.71417	0.271000	0.24616	0.994000	0.84299	0.836000	0.27545	0.779000	0.33543	0.655000	0.94253	CTT	PPA2	-	superfamily_Pyrophosphatase	ENSG00000138777		0.294	PPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPA2	HGNC	protein_coding	OTTHUMT00000250704.4	-	0.00	299	0	G	NM_176869		106317440	-1	tier1	-	no_errors	ENST00000357415	ensembl	human	known	74_37	missense	31.75	245	114	SNP	0.998	A
PRAMEF6	440561	genome.wustl.edu	37	1	12998648	12998648	+	Missense_Mutation	SNP	T	T	C			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr1:12998648T>C	ENST00000376189.1	-	4	1387	c.1288A>G	c.(1288-1290)Aga>Gga	p.R430G	PRAMEF6_ENST00000415464.2_Missense_Mutation_p.R430G|PRAMEF6_ENST00000376192.5_Missense_Mutation_p.R430G	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	430					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGAGCAAATCTGCTCCAGCAG	0.507																																																	0													1.0	1.0	1.0					1																	12998648		52	339	391	SO:0001583	missense	0				CCDS30594.1	1p36.21	2013-01-17				ENSG00000232423		"""-"""	30583	protein-coding gene	gene with protein product							Standard	NM_001010889		Approved		uc001auq.2	Q5VXH4	OTTHUMG00000001984	ENST00000376189.1:c.1288A>G	1.37:g.12998648T>C	ENSP00000365360:p.Arg430Gly		A0AUJ9	Missense_Mutation	SNP	NULL	p.R430G	ENST00000376189.1	37	c.1288	CCDS30594.1	1	.	.	.	.	.	.	.	.	.	.	.	10.46	1.357651	0.24598	.	.	ENSG00000232423	ENST00000376189;ENST00000415464;ENST00000376192;ENST00000355096	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	1.29	1.29	0.21616	.	0.822734	0.10980	N	0.612781	T	0.65913	0.2737	M	0.85462	2.755	0.09310	N	0.999999	D;D	0.71674	0.998;0.996	D;D	0.74674	0.984;0.944	T	0.50684	-0.8799	10	0.72032	D	0.01	.	4.7836	0.13215	0.0:0.0:0.0:1.0	.	430;430	Q5TYX0;Q5VXH4	PRAM5_HUMAN;PRAM6_HUMAN	G	430	ENSP00000365360:R430G;ENSP00000401281:R430G;ENSP00000365363:R430G;ENSP00000347211:R430G	ENSP00000347211:R430G	R	-	1	2	PRAMEF6	12921235	0.001000	0.12720	0.007000	0.13788	0.006000	0.05464	0.648000	0.24828	0.852000	0.35287	0.325000	0.21440	AGA	PRAMEF6	-	NULL	ENSG00000232423		0.507	PRAMEF6-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRAMEF6	HGNC	protein_coding		-	0.00	16	0	T	NM_001010889		12998648	-1	tier1	-	no_errors	ENST00000355096	ensembl	human	known	74_37	missense	66.67	1	2	SNP	0.007	C
PRAMEF17	391004	genome.wustl.edu	37	1	13717114	13717114	+	Missense_Mutation	SNP	A	A	G			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr1:13717114A>G	ENST00000376098.4	+	2	627	c.601A>G	c.(601-603)Agg>Ggg	p.R201G		NM_001099851.1	NP_001093321.1	Q5VTA0	PRA17_HUMAN	PRAME family member 17	201					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					kidney(1)|lung(2)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTTATTGAAAAGGGTATACCC	0.418																																																	0													3.0	4.0	4.0					1																	13717114		1363	3046	4409	SO:0001583	missense	0				CCDS41264.1	1p36.21	2013-01-17			ENSG00000204479	ENSG00000204479		"""-"""	29485	protein-coding gene	gene with protein product							Standard	NM_001099851		Approved	OTTHUMG00000007909	uc009vnz.1	Q5VTA0	OTTHUMG00000007909	ENST00000376098.4:c.601A>G	1.37:g.13717114A>G	ENSP00000365266:p.Arg201Gly		B2RUU4	Missense_Mutation	SNP	NULL	p.R201G	ENST00000376098.4	37	c.601	CCDS41264.1	1	.	.	.	.	.	.	.	.	.	.	A	4.319	0.058592	0.08339	.	.	ENSG00000204479	ENST00000376098	T	0.14766	2.48	1.09	-0.0828	0.13697	.	1.165390	0.06152	N	0.674304	T	0.06917	0.0176	N	0.08118	0	0.09310	N	1	B	0.32010	0.351	B	0.32465	0.146	T	0.34775	-0.9815	10	0.62326	D	0.03	.	2.7668	0.05322	0.6216:0.0:0.3784:0.0	.	201	Q5VTA0	PRA17_HUMAN	G	201	ENSP00000365266:R201G	ENSP00000365266:R201G	R	+	1	2	PRAMEF17	13589701	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.884000	0.04166	-0.030000	0.13804	0.373000	0.22412	AGG	PRAMEF17	-	NULL	ENSG00000204479		0.418	PRAMEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF17	HGNC	protein_coding	OTTHUMT00000021780.2	-	0.00	40	0	A	NM_001099851		13717114	+1	tier1	-	no_errors	ENST00000376098	ensembl	human	known	74_37	missense	27.27	16	6	SNP	0.000	G
PREX2	80243	genome.wustl.edu	37	8	69021832	69021832	+	Silent	SNP	G	G	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr8:69021832G>T	ENST00000288368.4	+	25	3397	c.3120G>T	c.(3118-3120)gtG>gtT	p.V1040V		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1040					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.V1040V(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TGAAAGAGGTGGAGATGTGTG	0.368																																																	1	Substitution - coding silent(1)	endometrium(1)											123.0	121.0	122.0					8																	69021832		2203	4300	6503	SO:0001819	synonymous_variant	0			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.3120G>T	8.37:g.69021832G>T			B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Silent	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.V1040	ENST00000288368.4	37	c.3120	CCDS6201.1	8																																																																																			PREX2	-	NULL	ENSG00000046889		0.368	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1		0.00	43	0	G	NM_025170		69021832	+1			no_errors	ENST00000288368	ensembl	human	known	74_37	silent	8.11	34	3	SNP	1.000	T
PRIM2	5558	genome.wustl.edu	37	6	57467133	57467133	+	3'UTR	SNP	G	G	C			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr6:57467133G>C	ENST00000389488.2	+	0	1161				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		AGGAAGGCAAGAGGACAGACT	0.418																																																	0													135.0	126.0	129.0					6																	57467133		1991	4182	6173	SO:0001624	3_prime_UTR_variant	0				CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1158G>C	6.37:g.57467133G>C			Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	RNA	SNP	-	NULL	ENST00000389488.2	37	NULL		6																																																																																			PRIM2	-	-	ENSG00000146143		0.418	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	PRIM2	HGNC	protein_coding	OTTHUMT00000043468.3	-	0.00	114	0	G	NM_000947		57467133	+1	tier1	-	no_errors	ENST00000389488	ensembl	human	known	74_37	rna	8.00	138	12	SNP	1.000	C
PTPMT1	114971	genome.wustl.edu	37	11	47591400	47591400	+	Missense_Mutation	SNP	G	G	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr11:47591400G>T	ENST00000326674.9	+	3	426	c.404G>T	c.(403-405)gGg>gTg	p.G135V	PTPMT1_ENST00000326656.8_Intron|PTPMT1_ENST00000534775.1_3'UTR|NDUFS3_ENST00000533507.1_Intron|PTPMT1_ENST00000527079.2_3'UTR|PTPMT1_ENST00000426530.2_Intron	NM_175732.2	NP_783859.1	Q8WUK0	PTPM1_HUMAN	protein tyrosine phosphatase, mitochondrial 1	135	Tyrosine-protein phosphatase.				cardiolipin biosynthetic process (GO:0032049)|glycerophospholipid biosynthetic process (GO:0046474)|inositol phosphate dephosphorylation (GO:0046855)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatidylglycerophosphatase activity (GO:0008962)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	6						TGTAAGGCTGGGCGCTCCAGG	0.532																																																	0													112.0	113.0	113.0					11																	47591400		2006	4158	6164	SO:0001583	missense	0			BC014048	CCDS41643.1, CCDS44593.1	11p11.2	2011-06-09			ENSG00000110536	ENSG00000110536	3.1.3.36	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	26965	protein-coding gene	gene with protein product		609538				12477932	Standard	NM_175732		Approved	PLIP, DUSP23, MOSP	uc001nfs.4	Q8WUK0	OTTHUMG00000166892	ENST00000326674.9:c.404G>T	11.37:g.47591400G>T	ENSP00000325958:p.Gly135Val		E9PAT8|Q7Z557|Q96CR2|Q9BXV8	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase	p.G135V	ENST00000326674.9	37	c.404	CCDS41643.1	11	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675623	0.88445	.	.	ENSG00000110536	ENST00000326674	D	0.97089	-4.24	5.04	5.04	0.67666	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.64402	U	0.000001	D	0.98887	0.9623	H	0.94964	3.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99624	1.0984	10	0.87932	D	0	-11.5634	16.9281	0.86182	0.0:0.0:1.0:0.0	.	135	Q8WUK0	PTPM1_HUMAN	V	135	ENSP00000325958:G135V	ENSP00000325958:G135V	G	+	2	0	PTPMT1	47547976	1.000000	0.71417	0.926000	0.36857	0.966000	0.64601	9.127000	0.94417	2.513000	0.84729	0.563000	0.77884	GGG	PTPMT1	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase	ENSG00000110536		0.532	PTPMT1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	PTPMT1	HGNC	protein_coding	OTTHUMT00000391746.1	-	0.00	54	0	G	XM_374879		47591400	+1	tier1	-	no_errors	ENST00000326674	ensembl	human	novel	74_37	missense	8.33	44	4	SNP	1.000	T
PTPN21	11099	genome.wustl.edu	37	14	88945689	88945689	+	Missense_Mutation	SNP	C	C	T	rs150243696	byFrequency	TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr14:88945689C>T	ENST00000556564.1	-	13	2370	c.2086G>A	c.(2086-2088)Ggc>Agc	p.G696S	PTPN21_ENST00000328736.3_Missense_Mutation_p.G696S	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	696					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TTCTTATGGCCGTACCTCAAG	0.677																																																	0													60.0	57.0	58.0					14																	88945689		2203	4300	6503	SO:0001583	missense	0			X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.2086G>A	14.37:g.88945689C>T	ENSP00000452414:p.Gly696Ser			Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam	p.G696S	ENST00000556564.1	37	c.2086	CCDS9884.1	14	.	.	.	.	.	.	.	.	.	.	C	13.02	2.113540	0.37339	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	T;T	0.71934	-0.61;-0.61	5.34	4.44	0.53790	.	0.219310	0.47455	N	0.000229	T	0.58807	0.2148	L	0.38531	1.155	0.30575	N	0.763159	B	0.23540	0.087	B	0.20384	0.029	T	0.54788	-0.8241	10	0.19147	T	0.46	.	13.0973	0.59200	0.0:0.9211:0.0:0.0789	.	696	Q16825	PTN21_HUMAN	S	696	ENSP00000330276:G696S;ENSP00000452414:G696S	ENSP00000330276:G696S	G	-	1	0	PTPN21	88015442	0.991000	0.36638	0.002000	0.10522	0.004000	0.04260	4.653000	0.61462	1.209000	0.43321	0.655000	0.94253	GGC	PTPN21	-	pirsf_Tyr_Pase_non-rcpt_typ-14/21	ENSG00000070778		0.677	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN21	HGNC	protein_coding	OTTHUMT00000410303.1	-	0.00	20	0	C			88945689	-1	tier1	-	no_errors	ENST00000328736	ensembl	human	known	74_37	missense	35.48	20	11	SNP	0.949	T
PTPRQ	374462	genome.wustl.edu	37	12	80890208	80890208	+	Missense_Mutation	SNP	T	T	G			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr12:80890208T>G	ENST00000266688.5	+	19	2158	c.2158T>G	c.(2158-2160)Tta>Gta	p.L720V				Q9UMZ3	PTPRQ_HUMAN	protein tyrosine phosphatase, receptor type, Q	766	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				regulation of fat cell differentiation (GO:0045598)	integral component of membrane (GO:0016021)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(7)|kidney(9)|lung(2)|prostate(1)|skin(2)|stomach(2)	24						ATTAAGGAACTTAAGACCTCA	0.348																																																	0													104.0	88.0	93.0					12																	80890208		692	1591	2283	SO:0001583	missense	0			AF169351	CCDS73501.1	12q21.31	2013-02-11	2001-12-04		ENSG00000139304	ENSG00000139304		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9679	protein-coding gene	gene with protein product		603317	"""deafness, autosomal recessive 84"""	DFNB84		20346435	Standard	NM_001145026		Approved		uc001sze.2	Q9UMZ3	OTTHUMG00000170171	ENST00000266688.5:c.2158T>G	12.37:g.80890208T>G	ENSP00000266688:p.Leu720Val			Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.L720V	ENST00000266688.5	37	c.2158		12	.	.	.	.	.	.	.	.	.	.	T	11.53	1.665982	0.29604	.	.	ENSG00000139304	ENST00000266688	D	0.84800	-1.9	5.74	3.44	0.39384	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	D	0.87857	0.6283	.	.	.	0.37932	D	0.932048	D	0.55385	0.971	P	0.60286	0.872	D	0.86986	0.2107	8	0.56958	D	0.05	.	4.1131	0.10068	0.1556:0.2294:0.0:0.6151	.	766	Q9UMZ3	PTPRQ_HUMAN	V	720	ENSP00000266688:L720V	ENSP00000266688:L720V	L	+	1	2	PTPRQ	79414339	0.975000	0.34042	0.997000	0.53966	0.035000	0.12851	0.578000	0.23773	1.025000	0.39708	0.482000	0.46254	TTA	PTPRQ	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000139304		0.348	PTPRQ-201	KNOWN	basic|appris_principal	protein_coding	PTPRQ	HGNC	protein_coding		-	0.00	57	0	T	NM_001145026		80890208	+1	tier1	-	no_errors	ENST00000266688	ensembl	human	known	74_37	missense	43.08	37	28	SNP	1.000	G
PXN	5829	genome.wustl.edu	37	12	120652004	120652004	+	Missense_Mutation	SNP	A	A	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr12:120652004A>T	ENST00000228307.7	-	10	1436	c.1295T>A	c.(1294-1296)cTt>cAt	p.L432H	PXN_ENST00000397506.3_Missense_Mutation_p.L244H|PXN_ENST00000424649.2_Missense_Mutation_p.L398H|PXN_ENST00000267257.7_Missense_Mutation_p.L446H|PXN-AS1_ENST00000539446.1_RNA|PXN_ENST00000538144.1_5'UTR|PXN-AS1_ENST00000535200.1_RNA|PXN_ENST00000536957.1_Missense_Mutation_p.L430H|PXN_ENST00000458477.2_Missense_Mutation_p.L265H|PXN-AS1_ENST00000542265.1_RNA	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	432	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGTCCGGTCAAGGGCTGTCAC	0.597																																																	0													27.0	29.0	29.0					12																	120652004		1889	3880	5769	SO:0001583	missense	0			U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.1295T>A	12.37:g.120652004A>T	ENSP00000228307:p.Leu432His		B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM,prints_Paxillin	p.L446H	ENST00000228307.7	37	c.1337	CCDS44997.1	12	.	.	.	.	.	.	.	.	.	.	A	27.7	4.855902	0.91355	.	.	ENSG00000089159	ENST00000458477;ENST00000228307;ENST00000424649;ENST00000536957;ENST00000267257;ENST00000397506;ENST00000331257;ENST00000541856	D;D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4;-2.4	5.54	5.54	0.83059	Zinc finger, LIM-type (5);	.	.	.	.	D	0.95746	0.8616	M	0.92833	3.35	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.997;0.997;0.998	D	0.96747	0.9551	9	0.87932	D	0	.	15.6783	0.77344	1.0:0.0:0.0:0.0	.	398;446;244;432	P49023-2;P49023-3;E7EMK8;P49023	.;.;.;PAXI_HUMAN	H	265;432;398;430;446;244;60;157	ENSP00000395536:L265H;ENSP00000228307:L432H;ENSP00000391283:L398H;ENSP00000443887:L430H;ENSP00000267257:L446H;ENSP00000380643:L244H	ENSP00000228307:L432H	L	-	2	0	PXN	119136387	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	9.159000	0.94728	2.114000	0.64651	0.528000	0.53228	CTT	PXN	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000089159		0.597	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PXN	HGNC	protein_coding	OTTHUMT00000402679.4	-	0.00	43	0	A	NM_002859		120652004	-1	tier1	-	no_errors	ENST00000267257	ensembl	human	known	74_37	missense	55.17	13	16	SNP	1.000	T
RAB18	22931	genome.wustl.edu	37	10	27827137	27827137	+	3'UTR	SNP	G	G	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr10:27827137G>A	ENST00000356940.6	+	0	880				RAB18_ENST00000535776.1_3'UTR|RAB18_ENST00000465772.1_3'UTR	NM_001256410.1|NM_001256415.1|NM_021252.4	NP_001243339.1|NP_001243344.1|NP_067075.1	Q9NP72	RAB18_HUMAN	RAB18, member RAS oncogene family						brain development (GO:0007420)|endoplasmic reticulum tubular network organization (GO:0071786)|eye development (GO:0001654)|GTP catabolic process (GO:0006184)|lipid particle organization (GO:0034389)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|large_intestine(1)|lung(1)	3						CATCGACCCCGGGTAAAATGT	0.328																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AJ277145	CCDS7155.1, CCDS58073.1, CCDS73080.1, CCDS73081.1	10p12	2011-03-07			ENSG00000099246	ENSG00000099246		"""RAB, member RAS oncogene"""	14244	protein-coding gene	gene with protein product		602207				10648831	Standard	NM_021252		Approved		uc001itw.4	Q9NP72	OTTHUMG00000017861	ENST00000356940.6:c.*157G>A	10.37:g.27827137G>A			B3KMC7|B7Z333|D3DRW1|Q53FX8|Q56UN9|Q6FIH1	RNA	SNP	-	NULL	ENST00000356940.6	37	NULL	CCDS7155.1	10																																																																																			RAB18	-	-	ENSG00000099246		0.328	RAB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB18	HGNC	protein_coding	OTTHUMT00000047326.2	-	0.00	34	0	G	NM_021252		27827137	+1	tier1	-	no_errors	ENST00000465772	ensembl	human	known	74_37	rna	23.08	30	9	SNP	1.000	A
RAB5B	5869	genome.wustl.edu	37	12	56384572	56384572	+	Missense_Mutation	SNP	G	G	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr12:56384572G>T	ENST00000360299.5	+	4	643	c.422G>T	c.(421-423)cGt>cTt	p.R141L	RAB5B_ENST00000448789.2_Intron|RAB5B_ENST00000553116.1_Missense_Mutation_p.R141L	NM_002868.3	NP_002859.1	P61020	RAB5B_HUMAN	RAB5B, member RAS oncogene family	141					antigen processing and presentation (GO:0019882)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|plasma membrane to endosome transport (GO:0048227)|protein transport (GO:0015031)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1)	9			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			GCCAACAAACGTATGGTGGAG	0.517																																																	0													127.0	120.0	123.0					12																	56384572		2203	4300	6503	SO:0001583	missense	0				CCDS8900.1, CCDS58244.1	12q13	2008-07-30						"""RAB, member RAS oncogene"""	9784	protein-coding gene	gene with protein product		179514				1541686, 10403367	Standard	NM_001252037		Approved		uc001siw.3	P61020		ENST00000360299.5:c.422G>T	12.37:g.56384572G>T	ENSP00000353444:p.Arg141Leu		A8K982|B4DKD7|P35239|P35277|Q6PIK9|Q86TH0|Q8IXL2	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R141L	ENST00000360299.5	37	c.422	CCDS8900.1	12	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804519	0.90623	.	.	ENSG00000111540	ENST00000553116;ENST00000360299	T;T	0.80304	-1.36;-1.36	4.81	4.81	0.61882	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000006	D	0.91297	0.7256	M	0.90814	3.15	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.73708	0.981;0.981	D	0.92901	0.6339	10	0.87932	D	0	-5.429	17.1784	0.86848	0.0:0.0:1.0:0.0	.	141;141	Q6FI54;P61020	.;RAB5B_HUMAN	L	141	ENSP00000450168:R141L;ENSP00000353444:R141L	ENSP00000353444:R141L	R	+	2	0	RAB5B	54670839	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.755000	0.85180	2.676000	0.91093	0.585000	0.79938	CGT	RAB5B	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000111540		0.517	RAB5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB5B	HGNC	protein_coding	OTTHUMT00000405396.1		0.00	24	0	G			56384572	+1			no_errors	ENST00000360299	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	T
RANBP3	8498	genome.wustl.edu	37	19	5923297	5923297	+	Missense_Mutation	SNP	C	C	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr19:5923297C>T	ENST00000340578.6	-	13	1174	c.1117G>A	c.(1117-1119)Gca>Aca	p.A373T	RANBP3_ENST00000439268.2_Missense_Mutation_p.A368T|RANBP3_ENST00000034275.8_Missense_Mutation_p.A305T|RANBP3_ENST00000541471.1_Missense_Mutation_p.A245T|RANBP3_ENST00000591092.1_Missense_Mutation_p.A300T	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	373					intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						TAGGCGGCTGCCGACTCAGCC	0.542																																																	0													75.0	81.0	79.0					19																	5923297		1975	4162	6137	SO:0001583	missense	0			Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4		ENST00000340578.6:c.1117G>A	19.37:g.5923297C>T	ENSP00000341483:p.Ala373Thr		B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Missense_Mutation	SNP	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	p.A373T	ENST00000340578.6	37	c.1117	CCDS42478.1	19	.	.	.	.	.	.	.	.	.	.	C	20.9	4.061885	0.76187	.	.	ENSG00000031823	ENST00000340578;ENST00000439268;ENST00000034275;ENST00000324807;ENST00000541471	T;T;T;T	0.39592	1.11;1.11;1.84;1.07	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.53981	0.1830	M	0.81802	2.56	0.80722	D	1	B;B;B;B;B;B;B	0.33288	0.144;0.107;0.176;0.284;0.406;0.171;0.107	B;B;B;B;B;B;B	0.40659	0.064;0.079;0.079;0.181;0.336;0.165;0.079	T	0.52953	-0.8506	10	0.34782	T	0.22	-16.2662	17.0862	0.86611	0.0:1.0:0.0:0.0	.	245;368;245;300;305;368;373	F5H4C2;Q53GE1;B7Z5P4;B7Z7F3;Q9H6Z4-3;Q9H6Z4-2;Q9H6Z4	.;.;.;.;.;.;RANB3_HUMAN	T	373;368;305;304;245	ENSP00000341483:A373T;ENSP00000404837:A368T;ENSP00000034275:A305T;ENSP00000445071:A245T	ENSP00000034275:A305T	A	-	1	0	RANBP3	5874297	1.000000	0.71417	0.192000	0.23308	0.950000	0.60333	7.395000	0.79876	2.640000	0.89533	0.462000	0.41574	GCA	RANBP3	-	NULL	ENSG00000031823		0.542	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RANBP3	HGNC	protein_coding	OTTHUMT00000452304.1	-	0.00	40	0	C	NM_007322		5923297	-1	tier1	-	no_errors	ENST00000340578	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.998	T
RGS6	9628	genome.wustl.edu	37	14	72936735	72936735	+	Missense_Mutation	SNP	G	G	C	rs536217214		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr14:72936735G>C	ENST00000553530.1	+	8	687	c.480G>C	c.(478-480)caG>caC	p.Q160H	RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000555571.1_Missense_Mutation_p.Q160H|RGS6_ENST00000343854.6_Missense_Mutation_p.Q160H|RGS6_ENST00000404301.2_Missense_Mutation_p.Q160H|RGS6_ENST00000355512.6_Missense_Mutation_p.Q160H|RGS6_ENST00000556437.1_Missense_Mutation_p.Q160H|RGS6_ENST00000554782.1_Missense_Mutation_p.Q21H|RGS6_ENST00000402788.2_Missense_Mutation_p.Q160H|RGS6_ENST00000406236.4_Missense_Mutation_p.Q160H|RGS6_ENST00000407322.4_Missense_Mutation_p.Q160H|RGS6_ENST00000553525.1_Missense_Mutation_p.Q160H|RGS6_ENST00000434263.2_Missense_Mutation_p.Q91H	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	160					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CAAGACTCCAGAGGGCCTTTG	0.398																																					Ovarian(143;1926 2468 21071 48641)												0													111.0	104.0	106.0					14																	72936735		2203	4300	6503	SO:0001583	missense	0			AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"""Regulators of G-protein signaling"""	10002	protein-coding gene	gene with protein product		603894	"""regulator of G-protein signalling 6"""			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.480G>C	14.37:g.72936735G>C	ENSP00000452331:p.Gln160His		C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Missense_Mutation	SNP	pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.Q160H	ENST00000553530.1	37	c.480	CCDS9808.1	14	.	.	.	.	.	.	.	.	.	.	G	17.46	3.396146	0.62177	.	.	ENSG00000182732	ENST00000553525;ENST00000555571;ENST00000553530;ENST00000556437;ENST00000355512;ENST00000404301;ENST00000406236;ENST00000407322;ENST00000402788;ENST00000343854;ENST00000453330;ENST00000434263;ENST00000554782;ENST00000535521	T;T;T;T;T;T;T;T;T;T;T;T	0.33438	1.55;1.41;1.41;1.55;1.42;1.56;1.56;1.57;1.41;1.42;1.52;1.55	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.43722	0.1260	L	0.37800	1.135	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.993	T	0.11941	-1.0567	10	0.36615	T	0.2	-10.4952	12.2573	0.54631	0.0784:0.0:0.9216:0.0	.	91;160;165;160	B7Z7N5;P49758-2;Q59FJ8;P49758	.;.;.;RGS6_HUMAN	H	160;160;160;160;160;160;160;160;160;160;132;91;21;21	ENSP00000451030:Q160H;ENSP00000450936:Q160H;ENSP00000452331:Q160H;ENSP00000451855:Q160H;ENSP00000347699:Q160H;ENSP00000385243:Q160H;ENSP00000384218:Q160H;ENSP00000384612:Q160H;ENSP00000383953:Q160H;ENSP00000341199:Q160H;ENSP00000412144:Q91H;ENSP00000451912:Q21H	ENSP00000341199:Q160H	Q	+	3	2	RGS6	72006488	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.245000	0.78237	2.749000	0.94314	0.655000	0.94253	CAG	RGS6	-	NULL	ENSG00000182732		0.398	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	RGS6	HGNC	protein_coding	OTTHUMT00000413033.2	-	0.00	50	0	G			72936735	+1	tier1	-	no_errors	ENST00000553525	ensembl	human	known	74_37	missense	27.87	44	17	SNP	1.000	C
RIC3	79608	genome.wustl.edu	37	11	8149794	8149794	+	Intron	SNP	G	G	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr11:8149794G>T	ENST00000309737.6	-	5	521				RIC3_ENST00000425599.2_Intron|RIC3_ENST00000396677.2_Missense_Mutation_p.L4M|RIC3_ENST00000539720.1_Intron|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000343202.4_Intron			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone						cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		TGTCTCTTCAGGCGGCACATG	0.423																																																	0																																										SO:0001627	intron_variant	0				CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"""resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"""			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.522-1440C>A	11.37:g.8149794G>T			B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	Missense_Mutation	SNP	NULL	p.L4M	ENST00000309737.6	37	c.10	CCDS55742.1	11	.	.	.	.	.	.	.	.	.	.	G	12.93	2.086282	0.36855	.	.	ENSG00000166405	ENST00000396677	.	.	.	3.92	-0.319	0.12725	.	.	.	.	.	T	0.26955	0.0660	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.30475	-0.9977	7	0.87932	D	0	.	2.2298	0.03994	0.1011:0.1604:0.3697:0.3689	.	4	D3DQU6	.	M	4	.	ENSP00000379910:L4M	L	-	1	2	RIC3	8106370	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.461000	0.21940	-0.049000	0.13379	-0.252000	0.11476	CTG	RIC3	-	NULL	ENSG00000166405		0.423	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIC3	HGNC	protein_coding	OTTHUMT00000385900.1	-	0.00	54	0	G	NM_024557		8149794	-1	tier1	-	no_errors	ENST00000396677	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.000	T
RIMS2	9699	genome.wustl.edu	37	8	104922598	104922598	+	Silent	SNP	G	G	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr8:104922598G>A	ENST00000262231.10	+	3	1346	c.1098G>A	c.(1096-1098)tcG>tcA	p.S366S	RIMS2_ENST00000436393.2_Intron|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000507740.1_Intron	NM_001282881.1	NP_001269810.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	589					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CAGTTTTGTCGGACTCTAACA	0.393										HNSCC(12;0.0054)																																							0													180.0	174.0	176.0					8																	104922598		876	1991	2867	SO:0001819	synonymous_variant	0			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000262231.10:c.1098G>A	8.37:g.104922598G>A			B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.S366	ENST00000262231.10	37	c.1098		8																																																																																			RIMS2	-	NULL	ENSG00000176406		0.393	RIMS2-004	KNOWN	basic	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367214.5	-	0.00	51	0	G	NM_001100117		104922598	+1	tier1	-	no_errors	ENST00000262231	ensembl	human	known	74_37	silent	31.48	37	17	SNP	1.000	A
RNF186	54546	genome.wustl.edu	37	1	20141125	20141125	+	Missense_Mutation	SNP	G	G	A	rs372463789		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr1:20141125G>A	ENST00000375121.2	-	1	646	c.470C>T	c.(469-471)gCg>gTg	p.A157V	RP11-91K11.2_ENST00000454736.1_RNA	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN	ring finger protein 186	157						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			kidney(1)|lung(3)|urinary_tract(1)	5		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GAGTAGGTGCGCGGCCAGGCG	0.612																																																	0								G	VAL/ALA	0,4406		0,0,2203	95.0	111.0	106.0		470	2.1	0.0	1		106	1,8599	2.2+/-6.3	0,1,4299	no	missense	RNF186	NM_019062.1	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	157/228	20141125	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS199.1	1p36.13	2008-02-05			ENSG00000178828	ENSG00000178828		"""RING-type (C3HC4) zinc fingers"""	25978	protein-coding gene	gene with protein product	"""hypothetical protein FLJ20225"""					12477932	Standard	NM_019062		Approved	FLJ20225	uc001bcr.3	Q9NXI6	OTTHUMG00000002709	ENST00000375121.2:c.470C>T	1.37:g.20141125G>A	ENSP00000364263:p.Ala157Val		Q53GE0	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.A157V	ENST00000375121.2	37	c.470	CCDS199.1	1	.	.	.	.	.	.	.	.	.	.	G	0.464	-0.887729	0.02511	0.0	1.16E-4	ENSG00000178828	ENST00000375121	T	0.28255	1.62	5.61	2.14	0.27477	.	0.457119	0.18385	N	0.142843	T	0.11623	0.0283	N	0.15975	0.35	0.09310	N	1	B	0.16802	0.019	B	0.13407	0.009	T	0.32428	-0.9907	10	0.02654	T	1	-7.6977	2.9813	0.05954	0.5257:0.0:0.2672:0.2071	.	157	Q9NXI6	RN186_HUMAN	V	157	ENSP00000364263:A157V	ENSP00000364263:A157V	A	-	2	0	RNF186	20013712	0.645000	0.27286	0.017000	0.16124	0.683000	0.39861	1.071000	0.30666	0.619000	0.30197	-0.140000	0.14226	GCG	RNF186	-	NULL	ENSG00000178828		0.612	RNF186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF186	HGNC	protein_coding	OTTHUMT00000007694.1	-	0.00	62	0	G	NM_019062		20141125	-1	tier1	-	no_errors	ENST00000375121	ensembl	human	known	74_37	missense	26.00	37	13	SNP	0.001	A
RPL23AP82	284942	genome.wustl.edu	37	22	51237176	51237176	+	RNA	SNP	C	C	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr22:51237176C>T	ENST00000480246.1	+	0	426					NR_026982.1																						GAAAGGTGTCCGCAGCCACAC	0.547																																																	0													14.0	17.0	16.0					22																	51237176		1125	2221	3346			0																															22.37:g.51237176C>T				RNA	SNP	-	NULL	ENST00000480246.1	37	NULL		22																																																																																			AC002055.4	-	-	ENSG00000184319		0.547	AC002055.4-006	KNOWN	basic	processed_transcript	RPL23AP82	Clone_based_vega_gene	pseudogene	OTTHUMT00000316621.1	-	0.00	104	0	C			51237176	+1	tier1	-	no_errors	ENST00000462238	ensembl	human	known	74_37	rna	28.68	92	37	SNP	1.000	T
RYR2	6262	genome.wustl.edu	37	1	237580416	237580416	+	Silent	SNP	A	A	C			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr1:237580416A>C	ENST00000366574.2	+	11	1158	c.841A>C	c.(841-843)Aga>Cga	p.R281R	RYR2_ENST00000542537.1_Silent_p.R265R|RYR2_ENST00000360064.6_Silent_p.R279R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	281					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGAGACGCTAAGAGTTGCGTA	0.443																																																	0													120.0	117.0	118.0					1																	237580416		2050	4217	6267	SO:0001819	synonymous_variant	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.841A>C	1.37:g.237580416A>C			Q15411|Q546N8|Q5T3P2	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.R279	ENST00000366574.2	37	c.835	CCDS55691.1	1																																																																																			RYR2	-	pfam_MIR_motif,superfamily_MIR_motif,prints_Ryan_recept	ENSG00000198626		0.443	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	-	0.00	57	0	A	NM_001035		237580416	+1	tier1	-	no_errors	ENST00000360064	ensembl	human	known	74_37	silent	25.30	61	21	SNP	0.851	C
SCN3A	6328	genome.wustl.edu	37	2	165997297	165997297	+	Missense_Mutation	SNP	G	G	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr2:165997297G>T	ENST00000360093.3	-	13	2374	c.1883C>A	c.(1882-1884)gCc>gAc	p.A628D	SCN3A_ENST00000409101.3_Intron|SCN3A_ENST00000283254.7_Missense_Mutation_p.A628D	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	628					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGACATACTGGCCTGACTAAC	0.517																																																	0													238.0	176.0	197.0					2																	165997297		2203	4300	6503	SO:0001583	missense	0			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.1883C>A	2.37:g.165997297G>T	ENSP00000353206:p.Ala628Asp		Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.A628D	ENST00000360093.3	37	c.1883		2	.	.	.	.	.	.	.	.	.	.	G	13.09	2.132281	0.37630	.	.	ENSG00000153253	ENST00000360093;ENST00000283254	D;D	0.91180	-2.8;-2.8	6.07	5.19	0.71726	.	1.080830	0.07123	N	0.844201	D	0.93996	0.8077	M	0.80028	2.48	0.80722	D	1	P	0.45715	0.865	P	0.48270	0.572	D	0.88551	0.3116	10	0.51188	T	0.08	.	16.7686	0.85531	0.0:0.0:0.8698:0.1302	.	628	Q9NY46-3	.	D	628	ENSP00000353206:A628D;ENSP00000283254:A628D	ENSP00000283254:A628D	A	-	2	0	SCN3A	165705543	1.000000	0.71417	1.000000	0.80357	0.335000	0.28730	2.423000	0.44705	1.559000	0.49555	-0.181000	0.13052	GCC	SCN3A	-	pfam_DUF3451	ENSG00000153253		0.517	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	SCN3A	HGNC	protein_coding			0.00	34	0	G	NM_006922		165997297	-1			no_errors	ENST00000283254	ensembl	human	known	74_37	missense	5.66	50	3	SNP	1.000	T
SCN7A	6332	genome.wustl.edu	37	2	167289201	167289201	+	Missense_Mutation	SNP	T	T	C			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr2:167289201T>C	ENST00000409855.1	-	15	2345	c.2219A>G	c.(2218-2220)gAa>gGa	p.E740G		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	740					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	ATTATTCTCTTCAGCTGTTAC	0.338																																																	0													44.0	41.0	42.0					2																	167289201		1854	4107	5961	SO:0001583	missense	0			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.2219A>G	2.37:g.167289201T>C	ENSP00000386796:p.Glu740Gly			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.E740G	ENST00000409855.1	37	c.2219	CCDS46442.1	2	.	.	.	.	.	.	.	.	.	.	T	11.75	1.730393	0.30684	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992	D;D	0.97114	-4.21;-4.25	6.17	3.78	0.43462	.	0.193185	0.36167	N	0.002748	D	0.94414	0.8203	M	0.62154	1.92	0.32306	N	0.564373	P	0.35077	0.483	B	0.30943	0.122	D	0.93257	0.6640	10	0.72032	D	0.01	.	7.5644	0.27870	0.0:0.0736:0.1425:0.7839	.	740	Q01118	SCN7A_HUMAN	G	740	ENSP00000386796:E740G;ENSP00000413699:E740G	ENSP00000259060:E740G	E	-	2	0	SCN7A	166997447	1.000000	0.71417	0.349000	0.25694	0.215000	0.24574	4.274000	0.58921	0.548000	0.28955	0.533000	0.62120	GAA	SCN7A	-	NULL	ENSG00000136546		0.338	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN7A	HGNC	protein_coding	OTTHUMT00000333745.1	-	0.00	46	0	T			167289201	-1	tier1	-	no_errors	ENST00000409855	ensembl	human	known	74_37	missense	67.16	22	45	SNP	0.997	C
SDK1	221935	genome.wustl.edu	37	7	3681696	3681696	+	Silent	SNP	T	T	G			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr7:3681696T>G	ENST00000404826.2	+	4	811	c.672T>G	c.(670-672)acT>acG	p.T224T	AC011284.3_ENST00000427920.1_RNA|SDK1_ENST00000389531.3_Silent_p.T224T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	224	Ig-like C2-type 2.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTCAAGTGACTTGGTTTAGAG	0.448																																																	0													104.0	93.0	97.0					7																	3681696		2203	4300	6503	SO:0001819	synonymous_variant	0			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.672T>G	7.37:g.3681696T>G			Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.T224	ENST00000404826.2	37	c.672	CCDS34590.1	7																																																																																			SDK1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2	ENSG00000146555		0.448	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	-	0.00	53	0	T	NM_152744		3681696	+1	tier1	-	no_errors	ENST00000404826	ensembl	human	known	74_37	silent	39.06	39	25	SNP	0.324	G
SEC14L5	9717	genome.wustl.edu	37	16	5009369	5009369	+	Silent	SNP	G	G	T	rs541090079	byFrequency	TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr16:5009369G>T	ENST00000251170.7	+	2	225	c.45G>T	c.(43-45)ccG>ccT	p.P15P		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	15	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)	p.P15P(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						ACAAGTACCCGTTTGAGCTGG	0.577																																																	1	Substitution - coding silent(1)	lung(1)											119.0	120.0	119.0					16																	5009369		2089	4226	6315	SO:0001819	synonymous_variant	0			AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.45G>T	16.37:g.5009369G>T				Silent	SNP	pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1,prints_CRAL-bd_toc_tran	p.P15	ENST00000251170.7	37	c.45	CCDS45403.1	16																																																																																			SEC14L5	-	pfscan_PRELI/MSF1	ENSG00000103184		0.577	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L5	HGNC	protein_coding	OTTHUMT00000434379.1		0.00	55	0	G			5009369	+1			no_errors	ENST00000251170	ensembl	human	known	74_37	silent	5.26	54	3	SNP	0.645	T
SEC24B	10427	genome.wustl.edu	37	4	110415842	110415842	+	Missense_Mutation	SNP	G	G	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr4:110415842G>A	ENST00000265175.5	+	6	1373	c.1318G>A	c.(1318-1320)Gct>Act	p.A440T	SEC24B_ENST00000399100.2_Missense_Mutation_p.A405T|SEC24B_ENST00000504968.2_Missense_Mutation_p.A471T	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	440					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TTCTGCTCCAGCTCCAGCTTC	0.493																																																	0													101.0	110.0	107.0					4																	110415842		2166	4295	6461	SO:0001583	missense	0			AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.1318G>A	4.37:g.110415842G>A	ENSP00000265175:p.Ala440Thr		B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.A440T	ENST00000265175.5	37	c.1318	CCDS47124.1	4	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.484811	0.01027	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.79141	-1.05;-1.2;-1.24	3.73	2.89	0.33648	.	1.213790	0.05797	N	0.611376	T	0.64046	0.2563	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.0;0.001;0.001;0.001	B;B;B;B;B	0.08055	0.001;0.0;0.001;0.003;0.001	T	0.48581	-0.9023	10	0.18710	T	0.47	.	7.2539	0.26164	0.1199:0.0:0.8801:0.0	.	355;39;471;405;440	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	T	471;405;440	ENSP00000428564:A471T;ENSP00000382051:A405T;ENSP00000265175:A440T	ENSP00000265175:A440T	A	+	1	0	SEC24B	110635291	0.003000	0.15002	0.029000	0.17559	0.036000	0.12997	1.012000	0.29924	1.166000	0.42689	-0.237000	0.12165	GCT	SEC24B	-	NULL	ENSG00000138802		0.493	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC24B	HGNC	protein_coding	OTTHUMT00000364693.2	-	0.00	32	0	G			110415842	+1	tier1	-	no_errors	ENST00000265175	ensembl	human	known	74_37	missense	33.33	32	16	SNP	0.030	A
SEMA4B	10509	genome.wustl.edu	37	15	90760682	90760682	+	Missense_Mutation	SNP	C	C	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr15:90760682C>T	ENST00000411539.2	+	2	429	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	SEMA4B_ENST00000379122.3_Missense_Mutation_p.R52W|SEMA4B_ENST00000332496.6_Missense_Mutation_p.R57W	NM_198925.2	NP_945119.1	Q9NPR2	SEM4B_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B	52	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)	receptor activity (GO:0004872)			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CTCTGAAGAGCGGCCATTCCT	0.557																																																	0													39.0	37.0	38.0					15																	90760682		1943	4144	6087	SO:0001583	missense	0			AB051532	CCDS45347.1	15q25	2008-07-18						"""Semaphorins"""	10730	protein-coding gene	gene with protein product				SEMAC		7748561	Standard	NM_020210		Approved	SemC, KIAA1745, MGC131831	uc002boz.3	Q9NPR2		ENST00000411539.2:c.169C>T	15.37:g.90760682C>T	ENSP00000394720:p.Arg57Trp		Q6UXE3|Q8WVP9|Q96FK5|Q9C0B8|Q9H691|Q9NPM8|Q9NPN0	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom	p.R57W	ENST00000411539.2	37	c.169	CCDS45347.1	15	.	.	.	.	.	.	.	.	.	.	C	15.90	2.968043	0.53507	.	.	ENSG00000185033	ENST00000332496;ENST00000379122;ENST00000411539	T;T;T	0.32272	1.46;1.46;1.46	5.62	3.67	0.42095	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.426470	0.23405	N	0.048538	T	0.57315	0.2045	M	0.82823	2.61	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.61397	-0.7071	10	0.66056	D	0.02	.	12.8268	0.57725	0.5621:0.4379:0.0:0.0	.	57;52	Q2NL81;Q9NPR2	.;SEM4B_HUMAN	W	57;52;57	ENSP00000332204:R57W;ENSP00000368417:R52W;ENSP00000394720:R57W	ENSP00000332204:R57W	R	+	1	2	SEMA4B	88561686	1.000000	0.71417	0.537000	0.28052	0.544000	0.35116	0.998000	0.29744	0.659000	0.30945	-0.181000	0.13052	CGG	SEMA4B	-	superfamily_Semap_dom,pfscan_Semap_dom	ENSG00000185033		0.557	SEMA4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4B	HGNC	protein_coding	OTTHUMT00000416810.1		0.00	44	0	C	NM_198925		90760682	+1			no_errors	ENST00000332496	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	T
SEZ6	124925	genome.wustl.edu	37	17	27332849	27332849	+	Silent	SNP	C	C	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr17:27332849C>A	ENST00000317338.12	-	1	467	c.39G>T	c.(37-39)ctG>ctT	p.L13L	SEZ6_ENST00000360295.9_Silent_p.L13L|SEZ6_ENST00000335960.6_Silent_p.L13L|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000442608.3_Silent_p.L13L			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	13					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			CCAGGAGCGCCAGCAGCGAGG	0.776																																																	0													2.0	3.0	3.0					17																	27332849		1450	3255	4705	SO:0001819	synonymous_variant	0			AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"""seizure related gene 6 (mouse) homolog"""			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.39G>T	17.37:g.27332849C>A			B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Silent	SNP	pfam_Sushi_SCR_CCP,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_CUB_dom,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.L13	ENST00000317338.12	37	c.39	CCDS45639.1	17																																																																																			SEZ6	-	NULL	ENSG00000063015		0.776	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6	HGNC	protein_coding	OTTHUMT00000397475.3		0.00	9	0	C			27332849	-1			no_errors	ENST00000317338	ensembl	human	known	74_37	silent	50.00	2	2	SNP	1.000	A
SFSWAP	6433	genome.wustl.edu	37	12	132262865	132262865	+	Missense_Mutation	SNP	C	C	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr12:132262865C>T	ENST00000261674.4	+	14	2539	c.2398C>T	c.(2398-2400)Cgg>Tgg	p.R800W	SFSWAP_ENST00000541286.1_Missense_Mutation_p.R800W	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	800	Arg/Ser-rich (RS domain).				mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						TCGGACAGTGCGGCGGTCGAG	0.522																																																	0													116.0	88.0	98.0					12																	132262865		2203	4300	6503	SO:0001583	missense	0			U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.2398C>T	12.37:g.132262865C>T	ENSP00000261674:p.Arg800Trp		B2RN45|B7ZM97|F5H6B8|Q6PJF7	Missense_Mutation	SNP	pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp	p.R800W	ENST00000261674.4	37	c.2398	CCDS9273.1	12	.	.	.	.	.	.	.	.	.	.	C	14.26	2.481255	0.44147	.	.	ENSG00000061936	ENST00000261674;ENST00000541286	T;T	0.27557	1.66;2.28	5.73	4.83	0.62350	.	0.048839	0.85682	D	0.000000	T	0.51449	0.1675	L	0.56769	1.78	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	T	0.54476	-0.8288	10	0.87932	D	0	-22.4244	13.7863	0.63112	0.3957:0.6043:0.0:0.0	.	800;800	F5H6B8;Q12872	.;SFSWA_HUMAN	W	800	ENSP00000261674:R800W;ENSP00000437738:R800W	ENSP00000261674:R800W	R	+	1	2	SFSWAP	130828818	0.978000	0.34361	0.962000	0.40283	0.654000	0.38779	1.206000	0.32321	1.400000	0.46741	0.655000	0.94253	CGG	SFSWAP	-	NULL	ENSG00000061936		0.522	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SFSWAP	HGNC	protein_coding	OTTHUMT00000399276.1	-	0.00	46	0	C	NM_004592		132262865	+1	tier1	-	no_errors	ENST00000261674	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.991	T
SGTB	54557	genome.wustl.edu	37	5	64967752	64967752	+	Missense_Mutation	SNP	G	G	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr5:64967752G>T	ENST00000381007.4	-	10	1028	c.793C>A	c.(793-795)Ctc>Atc	p.L265I		NM_019072.2	NP_061945.1	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta	265										large_intestine(3)|lung(3)|skin(3)	9		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		GCTTGGATGAGGCTTGACAGG	0.413																																																	0													44.0	43.0	43.0					5																	64967752		2203	4300	6503	SO:0001583	missense	0			AK096321	CCDS3988.1	5q12.3	2013-01-10			ENSG00000197860	ENSG00000197860		"""Tetratricopeptide (TTC) repeat domain containing"""	23567	protein-coding gene	gene with protein product						12477932	Standard	XM_005248548		Approved	Sgt2, FLJ39002	uc003jud.3	Q96EQ0	OTTHUMG00000097801	ENST00000381007.4:c.793C>A	5.37:g.64967752G>T	ENSP00000370395:p.Leu265Ile			Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L265I	ENST00000381007.4	37	c.793	CCDS3988.1	5	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224633	0.79576	.	.	ENSG00000197860	ENST00000381007	T	0.65178	-0.14	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.80423	0.4620	M	0.78344	2.41	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.80580	-0.1319	10	0.52906	T	0.07	-1.7541	19.3618	0.94442	0.0:0.0:1.0:0.0	.	265	Q96EQ0	SGTB_HUMAN	I	265	ENSP00000370395:L265I	ENSP00000370395:L265I	L	-	1	0	SGTB	65003508	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.668000	0.68074	2.794000	0.96219	0.650000	0.86243	CTC	SGTB	-	NULL	ENSG00000197860		0.413	SGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGTB	HGNC	protein_coding	OTTHUMT00000215057.2	-	0.00	64	0	G	NM_019072		64967752	-1	tier1	-	no_errors	ENST00000381007	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T
SHANK3	85358	genome.wustl.edu	37	22	51159630	51159630	+	Silent	SNP	G	G	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr22:51159630G>T	ENST00000414786.2	+	21	3554	c.3327G>T	c.(3325-3327)gcG>gcT	p.A1109A	SHANK3_ENST00000445220.2_Silent_p.A1125A|SHANK3_ENST00000262795.3_Silent_p.A1139A			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	1123					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.A232A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CCTCCCAGGCGCCCTCCCGGT	0.711																																																	1	Substitution - coding silent(1)	central_nervous_system(1)											9.0	11.0	10.0					22																	51159630		1945	4098	6043	SO:0001819	synonymous_variant	0			AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.3327G>T	22.37:g.51159630G>T			D7UT47|Q8TET3	Silent	SNP	pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.A1139	ENST00000414786.2	37	c.3417		22																																																																																			SHANK3	-	NULL	ENSG00000251322		0.711	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	SHANK3	HGNC	protein_coding	OTTHUMT00000316674.2	-	0.00	25	0	G	NM_001080420		51159630	+1	tier1	-	no_errors	ENST00000262795	ensembl	human	known	74_37	silent	53.85	12	14	SNP	0.443	T
SHPRH	257218	genome.wustl.edu	37	6	146276380	146276380	+	Missense_Mutation	SNP	C	C	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr6:146276380C>T	ENST00000367505.2	-	2	343	c.79G>A	c.(79-81)Gag>Aag	p.E27K	SHPRH_ENST00000367503.3_Missense_Mutation_p.E27K|SHPRH_ENST00000438092.2_Missense_Mutation_p.E27K|SHPRH_ENST00000275233.7_Missense_Mutation_p.E27K			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	27					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CTTCTGTCCTCATGCATATTC	0.458																																																	0													108.0	104.0	105.0					6																	146276380		1975	4177	6152	SO:0001583	missense	0			AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.79G>A	6.37:g.146276380C>T	ENSP00000356475:p.Glu27Lys		Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Histone_H1/H5_H15,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,superfamily_WW_dom,smart_Helicase_ATP-bd,smart_Histone_H1/H5_H15,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C	p.E27K	ENST00000367505.2	37	c.79	CCDS43513.2	6	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977324	0.92982	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.66	5.66	0.87406	.	0.070374	0.56097	D	0.000030	T	0.62913	0.2467	L	0.56769	1.78	0.58432	D	0.999999	D;P;P	0.55605	0.972;0.9;0.94	P;B;P	0.49708	0.616;0.416;0.62	T	0.66874	-0.5813	10	0.66056	D	0.02	-25.8208	19.7365	0.96208	0.0:1.0:0.0:0.0	.	27;27;27	Q149N8-2;Q149N8;Q149N8-4	.;SHPRH_HUMAN;.	K	27	ENSP00000356475:E27K;ENSP00000356473:E27K;ENSP00000412797:E27K;ENSP00000275233:E27K	ENSP00000275233:E27K	E	-	1	0	SHPRH	146318073	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.693000	0.68264	2.672000	0.90937	0.655000	0.94253	GAG	SHPRH	-	NULL	ENSG00000146414		0.458	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SHPRH	HGNC	protein_coding	OTTHUMT00000042571.2	-	0.00	27	0	C	NM_173082		146276380	-1	tier1	-	no_errors	ENST00000367503	ensembl	human	known	74_37	missense	30.30	23	10	SNP	1.000	T
SLC26A5	375611	genome.wustl.edu	37	7	103033487	103033487	+	Missense_Mutation	SNP	G	G	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr7:103033487G>T	ENST00000306312.3	-	10	1259	c.998C>A	c.(997-999)aCc>aAc	p.T333N	SLC26A5_ENST00000339444.6_Missense_Mutation_p.T333N|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000393727.1_Missense_Mutation_p.T333N|SLC26A5_ENST00000354356.4_Intron|SLC26A5_ENST00000432958.2_Missense_Mutation_p.T333N|SLC26A5_ENST00000393730.1_Missense_Mutation_p.T333N|SLC26A5_ENST00000393729.1_Missense_Mutation_p.T296N|SLC26A5_ENST00000393735.2_Missense_Mutation_p.T333N|SLC26A5_ENST00000393723.1_Missense_Mutation_p.T333N	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	333					regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GAAGAGGCTGGTGTCCGGATT	0.483																																																	0													147.0	114.0	125.0					7																	103033487		2203	4300	6503	SO:0001583	missense	0			AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"""Solute carriers"""	9359	protein-coding gene	gene with protein product	"""deafness, neurosensory, autosomal recessive, 61"""	604943	"""prestin (motor protein)"""	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.998C>A	7.37:g.103033487G>T	ENSP00000304783:p.Thr333Asn		Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.T333N	ENST00000306312.3	37	c.998	CCDS5733.1	7	.	.	.	.	.	.	.	.	.	.	G	14.36	2.513636	0.44763	.	.	ENSG00000170615	ENST00000339444;ENST00000393735;ENST00000306312;ENST00000393730;ENST00000432958;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D;D	0.92699	-3.09;-3.09;-3.09;-3.09;-3.09;-3.09;-3.09;-3.09	5.6	5.6	0.85130	Sulphate transporter (1);	0.198667	0.52532	D	0.000073	D	0.84710	0.5532	N	0.24115	0.695	0.80722	D	1	B;P;B;P	0.39665	0.038;0.601;0.261;0.682	B;B;B;B	0.37833	0.063;0.259;0.076;0.168	D	0.84188	0.0443	10	0.54805	T	0.06	.	7.713	0.28688	0.1986:0.0:0.8014:0.0	.	333;333;333;333	P58743;Q496J2;P58743-3;P58743-2	S26A5_HUMAN;.;.;.	N	333;333;333;333;333;296;333;333	ENSP00000342396:T333N;ENSP00000377336:T333N;ENSP00000304783:T333N;ENSP00000377331:T333N;ENSP00000389733:T333N;ENSP00000377330:T296N;ENSP00000377328:T333N;ENSP00000377324:T333N	ENSP00000304783:T333N	T	-	2	0	SLC26A5	102820723	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.680000	0.74518	2.638000	0.89438	0.561000	0.74099	ACC	SLC26A5	-	pfam_Sulph_transpt,tigrfam_SulP_transpt	ENSG00000170615		0.483	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A5	HGNC	protein_coding	OTTHUMT00000313860.1	-	0.00	42	0	G	NM_198999		103033487	-1	tier1	-	no_errors	ENST00000306312	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.998	T
SLC44A5	204962	genome.wustl.edu	37	1	75699775	75699775	+	Missense_Mutation	SNP	G	G	A	rs576032462		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr1:75699775G>A	ENST00000370855.5	-	12	862	c.749C>T	c.(748-750)aCg>aTg	p.T250M	SLC44A5_ENST00000370859.3_Missense_Mutation_p.T250M|SLC44A5_ENST00000535611.1_Missense_Mutation_p.T120M	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	250					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CATGGCAATCGTCAGGCCACT	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		15705	0.001		0.0	False		,,,				2504	0.0																0													91.0	90.0	91.0					1																	75699775		2203	4300	6503	SO:0001583	missense	0			BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.749C>T	1.37:g.75699775G>A	ENSP00000359892:p.Thr250Met		B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	pfam_Choline_transptr-like	p.T250M	ENST00000370855.5	37	c.749	CCDS667.1	1	.	.	.	.	.	.	.	.	.	.	G	8.967	0.972027	0.18736	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.13778	2.98;2.98;2.56	5.28	-2.62	0.06152	.	1.209340	0.05603	N	0.576767	T	0.07458	0.0188	M	0.68317	2.08	0.21604	N	0.999627	B;P;P;P;P	0.49696	0.004;0.874;0.88;0.927;0.923	B;B;B;P;P	0.47075	0.004;0.335;0.335;0.536;0.536	T	0.18903	-1.0322	10	0.37606	T	0.19	-0.8067	6.2529	0.20856	0.513:0.2322:0.2548:0.0	.	244;289;250;250;289	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	M	250;289;250;120;243	ENSP00000359896:T250M;ENSP00000359892:T250M;ENSP00000443090:T120M	ENSP00000359892:T250M	T	-	2	0	SLC44A5	75472363	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	1.491000	0.35583	-0.949000	0.03663	-2.970000	0.00081	ACG	SLC44A5	-	NULL	ENSG00000137968		0.378	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC44A5	HGNC	protein_coding	OTTHUMT00000026921.1	-	0.00	64	0	G	NM_152697		75699775	-1	tier1	-	no_errors	ENST00000370855	ensembl	human	known	74_37	missense	13.43	58	9	SNP	0.000	A
SLC26A9	115019	genome.wustl.edu	37	1	205890901	205890901	+	Silent	SNP	C	C	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr1:205890901C>T	ENST00000367135.3	-	17	1961	c.1848G>A	c.(1846-1848)ccG>ccA	p.P616P	SLC26A9_ENST00000340781.4_Silent_p.P616P|SLC26A9_ENST00000367134.2_Silent_p.P616P	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	616	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			TGCCGTTAGCCGGGGTCTGGT	0.647																																																	0													101.0	81.0	88.0					1																	205890901		2201	4299	6500	SO:0001819	synonymous_variant	0			AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"""Solute carriers"""	14469	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	608481	"""solute carrier family 26, member 9"""			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.1848G>A	1.37:g.205890901C>T			A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Silent	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.P616	ENST00000367135.3	37	c.1848	CCDS30990.1	1																																																																																			SLC26A9	-	pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	ENSG00000174502		0.647	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A9	HGNC	protein_coding	OTTHUMT00000087742.1	-	0.00	18	0	C	NM_052934		205890901	-1	tier1	-	no_errors	ENST00000340781	ensembl	human	known	74_37	silent	47.62	22	20	SNP	0.000	T
SLX4	84464	genome.wustl.edu	37	16	3633194	3633194	+	Missense_Mutation	SNP	G	G	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr16:3633194G>T	ENST00000294008.3	-	14	5697	c.5057C>A	c.(5056-5058)gCa>gAa	p.A1686E	RP11-461A8.1_ENST00000573982.1_lincRNA	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1686	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GCCTGGAGGTGCCTCCTTGGT	0.587								Direct reversal of damage																																									0													153.0	137.0	142.0					16																	3633194		2197	4300	6497	SO:0001583	missense	0			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.5057C>A	16.37:g.3633194G>T	ENSP00000294008:p.Ala1686Glu		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.A1686E	ENST00000294008.3	37	c.5057	CCDS10506.2	16	.	.	.	.	.	.	.	.	.	.	G	5.302	0.241161	0.10077	.	.	ENSG00000188827	ENST00000294008	T	0.01099	5.34	4.88	-4.32	0.03688	.	1.677140	0.03202	N	0.174889	T	0.00524	0.0017	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43278	-0.9401	10	0.02654	T	1	.	1.292	0.02062	0.3466:0.0986:0.138:0.4168	.	1686	Q8IY92	SLX4_HUMAN	E	1686	ENSP00000294008:A1686E	ENSP00000294008:A1686E	A	-	2	0	SLX4	3573195	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.048000	0.01406	-0.611000	0.05709	-0.136000	0.14681	GCA	SLX4	-	NULL	ENSG00000188827		0.587	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLX4	HGNC	protein_coding	OTTHUMT00000157301.3		0.00	76	0	G	NM_032444		3633194	-1			no_errors	ENST00000294008	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.000	T
SOGA3	387104	genome.wustl.edu	37	6	127796461	127796461	+	Missense_Mutation	SNP	C	C	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr6:127796461C>T	ENST00000525778.1	-	6	3455	c.2710G>A	c.(2710-2712)Gag>Aag	p.E904K	SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000465909.2_Missense_Mutation_p.E904K|SOGA3_ENST00000481848.2_Missense_Mutation_p.E904K|SOGA3_ENST00000368268.2_Missense_Mutation_p.E904K|SOGA3_ENST00000556132.1_Missense_Mutation_p.E904K			Q5TF21	SOGA3_HUMAN	SOGA family member 3	904					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											ATGGGCTCCTCGGCGCCGCGG	0.672																																																	0													36.0	40.0	39.0					6																	127796461		2139	4249	6388	SO:0001583	missense	0			AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.2710G>A	6.37:g.127796461C>T	ENSP00000434570:p.Glu904Lys			Missense_Mutation	SNP	pfam_SOGA	p.E904K	ENST00000525778.1	37	c.2710	CCDS43505.1	6	.	.	.	.	.	.	.	.	.	.	C	20.5	3.993285	0.74703	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.34667	1.35;1.35;1.35;1.38	5.73	5.73	0.89815	.	0.192335	0.53938	D	0.000043	T	0.14960	0.0361	L	0.27053	0.805	0.80722	D	1	P	0.49358	0.923	B	0.35655	0.207	T	0.02539	-1.1144	10	0.24483	T	0.36	-20.6273	19.9031	0.96996	0.0:1.0:0.0:0.0	.	904	Q5TF21	CF174_HUMAN	K	904	ENSP00000451768:E904K;ENSP00000357251:E904K;ENSP00000434570:E904K;ENSP00000435559:E904K	ENSP00000435559:E904K	E	-	1	0	C6orf174	127838154	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	7.770000	0.85390	2.710000	0.92621	0.561000	0.74099	GAG	SOGA3	-	NULL	ENSG00000214338		0.672	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SOGA3	HGNC	protein_coding	OTTHUMT00000388246.1	-	0.00	50	0	C	NM_001012279		127796461	-1	tier1	-	no_errors	ENST00000368268	ensembl	human	known	74_37	missense	33.90	39	20	SNP	1.000	T
SPATA2L	124044	genome.wustl.edu	37	16	89764175	89764175	+	Missense_Mutation	SNP	G	G	A	rs369296594		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr16:89764175G>A	ENST00000289805.5	-	3	910	c.842C>T	c.(841-843)cCa>cTa	p.P281L	SPATA2L_ENST00000335360.7_Intron	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	281										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		CTCCTCAGCTGGGGGCTCCCA	0.697																																																	0								G	LEU/PRO	0,4350		0,0,2175	13.0	15.0	14.0		842	-2.2	0.0	16		14	1,8553		0,1,4276	no	missense	SPATA2L	NM_152339.3	98	0,1,6451	AA,AG,GG		0.0117,0.0,0.0077	benign	281/425	89764175	1,12903	2175	4277	6452	SO:0001583	missense	0			AF070574	CCDS10985.1	16q24.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000158792	ENSG00000158792			28393	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 76"""	C16orf76		8619474	Standard	NM_152339		Approved	MGC26885, tamo	uc002foj.3	Q8IUW3	OTTHUMG00000138047	ENST00000289805.5:c.842C>T	16.37:g.89764175G>A	ENSP00000289805:p.Pro281Leu		D3DX85|Q8NHV3	Missense_Mutation	SNP	NULL	p.P281L	ENST00000289805.5	37	c.842	CCDS10985.1	16	.	.	.	.	.	.	.	.	.	.	G	8.147	0.786440	0.16189	0.0	1.17E-4	ENSG00000158792	ENST00000289805	.	.	.	4.42	-2.25	0.06888	.	1.407160	0.04532	N	0.386473	T	0.20251	0.0487	N	0.17082	0.46	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.21724	-1.0237	9	0.72032	D	0.01	.	1.6246	0.02720	0.226:0.1478:0.4764:0.1499	.	281	Q8IUW3	SPA2L_HUMAN	L	281	.	ENSP00000289805:P281L	P	-	2	0	SPATA2L	88291676	0.001000	0.12720	0.000000	0.03702	0.102000	0.19082	0.547000	0.23299	-0.670000	0.05282	0.462000	0.41574	CCA	SPATA2L	-	NULL	ENSG00000158792		0.697	SPATA2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA2L	HGNC	protein_coding	OTTHUMT00000269923.1	-	0.00	89	0	G	NM_152339		89764175	-1	tier1	-	no_errors	ENST00000289805	ensembl	human	known	74_37	missense	45.45	48	40	SNP	0.000	A
SPATA31D5P	347127	genome.wustl.edu	37	9	84533920	84533920	+	RNA	SNP	C	C	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr9:84533920C>T	ENST00000527857.1	+	0	3942					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		AAGAATTTTTCACCAGCTGCA	0.532																																																	0																																												0					9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84533920C>T				RNA	SNP	-	NULL	ENST00000527857.1	37	NULL		9																																																																																			SPATA31D5P	-	-	ENSG00000240632		0.532	SPATA31D5P-002	KNOWN	basic	processed_transcript	SPATA31D5P	HGNC	pseudogene	OTTHUMT00000052810.2	-	0.00	88	0	C	NR_026851		84533920	+1	tier1	-	no_errors	ENST00000527857	ensembl	human	known	74_37	rna	8.33	77	7	SNP	0.001	T
SSBP3	23648	genome.wustl.edu	37	1	54871665	54871665	+	Missense_Mutation	SNP	T	T	C			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr1:54871665T>C	ENST00000371320.3	-	1	427	c.17A>G	c.(16-18)aAa>aGa	p.K6R	SSBP3_ENST00000357475.4_Missense_Mutation_p.K6R|SSBP3_ENST00000417664.2_5'Flank|SSBP3_ENST00000371319.3_Missense_Mutation_p.K6R	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3	6					head morphogenesis (GO:0060323)|hematopoietic progenitor cell differentiation (GO:0002244)|midbrain-hindbrain boundary initiation (GO:0021547)|positive regulation of anterior head development (GO:2000744)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prechordal plate formation (GO:0021501)|protein complex assembly (GO:0006461)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|protein complex (GO:0043234)	single-stranded DNA binding (GO:0003697)			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						CGCCGAGCCTTTGCCTTTGGC	0.736																																																	0													4.0	5.0	5.0					1																	54871665		2079	4010	6089	SO:0001583	missense	0				CCDS590.1, CCDS591.1, CCDS30726.1	1p32.3	2008-02-05	2001-11-28		ENSG00000157216	ENSG00000157216			15674	protein-coding gene	gene with protein product		607390	"""single-stranded DNA-binding protein 3"""			12079286	Standard	NM_145716		Approved	CSDP, SSDP, FLJ10355, SSDP1	uc001cxe.4	Q9BWW4	OTTHUMG00000008264	ENST00000371320.3:c.17A>G	1.37:g.54871665T>C	ENSP00000360371:p.Lys6Arg		A8K0A9|Q5T860|Q5T861|Q9BTM0|Q9BWW3	Missense_Mutation	SNP	smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd	p.K6R	ENST00000371320.3	37	c.17	CCDS591.1	1	.	.	.	.	.	.	.	.	.	.	T	14.81	2.645914	0.47258	.	.	ENSG00000157216	ENST00000371320;ENST00000371319;ENST00000357475	.	.	.	2.64	2.64	0.31445	.	0.000000	0.46758	U	0.000271	T	0.45155	0.1328	L	0.38838	1.175	0.35702	D	0.815734	B;B;B	0.18968	0.02;0.004;0.032	B;B;B	0.24006	0.018;0.012;0.05	T	0.52540	-0.8562	9	0.62326	D	0.03	.	8.2855	0.31926	0.0:0.0:0.0:1.0	.	6;6;6	Q9BWW4-2;Q9BWW4-3;Q9BWW4	.;.;SSBP3_HUMAN	R	6	.	ENSP00000350067:K6R	K	-	2	0	SSBP3	54644253	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.586000	0.53950	0.978000	0.38470	0.240000	0.17902	AAA	SSBP3	-	NULL	ENSG00000157216		0.736	SSBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SSBP3	HGNC	protein_coding	OTTHUMT00000022721.1		0.00	35	0	T	NM_018070		54871665	-1			no_errors	ENST00000371320	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	C
STRIP2	57464	genome.wustl.edu	37	7	129122851	129122851	+	Missense_Mutation	SNP	C	C	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr7:129122851C>T	ENST00000249344.2	+	20	2258	c.2218C>T	c.(2218-2220)Cgt>Tgt	p.R740C	STRIP2_ENST00000435494.2_Missense_Mutation_p.R740C|RNU1-72P_ENST00000362976.1_RNA	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	740					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)		p.R740C(1)									CCAGAAAGTGCGTCACCGCAT	0.448																																																	1	Substitution - Missense(1)	large_intestine(1)											92.0	77.0	82.0					7																	129122851		2203	4300	6503	SO:0001583	missense	0			AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog B (yeast)"""		"""family with sequence similarity 40, member B"""	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.2218C>T	7.37:g.129122851C>T	ENSP00000249344:p.Arg740Cys		Q8WUZ4	Missense_Mutation	SNP	pfam_DUF3402,pfam_N1221	p.R740C	ENST00000249344.2	37	c.2218	CCDS34752.1	7	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174252	0.78452	.	.	ENSG00000128578	ENST00000249344;ENST00000435494	T;T	0.60424	0.19;0.19	5.32	3.37	0.38596	.	0.000000	0.85682	D	0.000000	T	0.80374	0.4611	M	0.93106	3.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.85779	0.1360	10	0.87932	D	0	-16.371	14.0067	0.64468	0.2694:0.7306:0.0:0.0	.	740;740	Q9ULQ0;Q9ULQ0-2	FA40B_HUMAN;.	C	740	ENSP00000249344:R740C;ENSP00000392393:R740C	ENSP00000249344:R740C	R	+	1	0	FAM40B	128910087	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.864000	0.56024	1.361000	0.45981	0.655000	0.94253	CGT	STRIP2	-	pfam_DUF3402	ENSG00000128578		0.448	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRIP2	HGNC	protein_coding	OTTHUMT00000349418.1	-	0.00	67	0	C	NM_001134336		129122851	+1	tier1	-	no_errors	ENST00000249344	ensembl	human	known	74_37	missense	36.00	48	27	SNP	1.000	T
SV2A	9900	genome.wustl.edu	37	1	149885042	149885042	+	Silent	SNP	C	C	T	rs200889129		TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr1:149885042C>T	ENST00000369146.3	-	2	841	c.351G>A	c.(349-351)gcG>gcA	p.A117A	SV2A_ENST00000369145.1_Silent_p.A117A	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	117					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CAGCCAGGGGCGCCCCATCTG	0.637																																																	0													76.0	85.0	82.0					1																	149885042		2203	4300	6503	SO:0001819	synonymous_variant	0			AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.351G>A	1.37:g.149885042C>T			D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2	p.A117	ENST00000369146.3	37	c.351	CCDS940.1	1																																																																																			SV2A	-	tigrfam_SV2	ENSG00000159164		0.637	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SV2A	HGNC	protein_coding	OTTHUMT00000033754.1	-	0.00	15	0	C			149885042	-1	tier1	rs200889129	no_errors	ENST00000369146	ensembl	human	known	74_37	silent	50.00	16	16	SNP	0.080	T
SV2B	9899	genome.wustl.edu	37	15	91832791	91832791	+	Silent	SNP	G	G	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr15:91832791G>T	ENST00000394232.1	+	12	2219	c.1749G>T	c.(1747-1749)ctG>ctT	p.L583L	SV2B_ENST00000330276.4_Silent_p.L583L|SV2B_ENST00000545111.2_Silent_p.L432L	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	583					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GCTTCTTCCTGTTTTTTGGCA	0.522																																																	0													217.0	183.0	194.0					15																	91832791		2198	4298	6496	SO:0001819	synonymous_variant	0			AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.1749G>T	15.37:g.91832791G>T			B4DH30|C6G489|O94840|Q6IAR8	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2	p.L583	ENST00000394232.1	37	c.1749	CCDS10370.1	15																																																																																			SV2B	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2	ENSG00000185518		0.522	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SV2B	HGNC	protein_coding	OTTHUMT00000313494.3		0.00	27	0	G	NM_014848		91832791	+1			no_errors	ENST00000330276	ensembl	human	known	74_37	silent	9.09	20	2	SNP	1.000	T
SV2C	22987	genome.wustl.edu	37	5	75594629	75594629	+	Missense_Mutation	SNP	G	G	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr5:75594629G>T	ENST00000502798.2	+	10	1955	c.1513G>T	c.(1513-1515)Gtc>Ttc	p.V505F	RP11-466P24.6_ENST00000502589.1_RNA|SV2C_ENST00000322285.7_Missense_Mutation_p.V505F	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	505					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)	p.V505F(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		ATTCATAGGGGTCAAGTTCAA	0.368																																																	1	Substitution - Missense(1)	lung(1)											207.0	188.0	194.0					5																	75594629		1847	4090	5937	SO:0001583	missense	0			AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.1513G>T	5.37:g.75594629G>T	ENSP00000423541:p.Val505Phe		Q496K1|Q9UPU8	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2	p.V505F	ENST00000502798.2	37	c.1513	CCDS43331.1	5	.	.	.	.	.	.	.	.	.	.	G	15.04	2.716361	0.48622	.	.	ENSG00000122012	ENST00000502798;ENST00000322285	T;T	0.45668	0.89;0.89	5.07	1.37	0.22104	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.194095	0.52532	D	0.000066	T	0.20861	0.0502	N	0.08118	0	0.38894	D	0.957176	B	0.21147	0.052	B	0.25759	0.063	T	0.06041	-1.0849	10	0.72032	D	0.01	-15.0591	6.2791	0.20997	0.5538:0.0:0.4462:0.0	.	505	Q496J9	SV2C_HUMAN	F	505	ENSP00000423541:V505F;ENSP00000316983:V505F	ENSP00000316983:V505F	V	+	1	0	SV2C	75630385	1.000000	0.71417	0.989000	0.46669	0.869000	0.49853	4.506000	0.60428	0.484000	0.27630	0.650000	0.86243	GTC	SV2C	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2	ENSG00000122012		0.368	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SV2C	HGNC	protein_coding	OTTHUMT00000368700.4		0.00	57	0	G			75594629	+1			no_errors	ENST00000502798	ensembl	human	known	74_37	missense	5.66	50	3	SNP	0.985	T
SYNE1	23345	genome.wustl.edu	37	6	152728318	152728318	+	Missense_Mutation	SNP	A	A	C			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr6:152728318A>C	ENST00000367255.5	-	45	7155	c.6554T>G	c.(6553-6555)cTt>cGt	p.L2185R	SYNE1_ENST00000423061.1_Missense_Mutation_p.L2192R|RP3-398G3.5_ENST00000458194.1_RNA|SYNE1_ENST00000341594.5_Missense_Mutation_p.L2222R|SYNE1_ENST00000265368.4_Missense_Mutation_p.L2185R|SYNE1_ENST00000448038.1_Missense_Mutation_p.L2192R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2185					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTTTTCTTCAAGTTTCTCTGA	0.433										HNSCC(10;0.0054)																																							0													90.0	77.0	82.0					6																	152728318		2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.6554T>G	6.37:g.152728318A>C	ENSP00000356224:p.Leu2185Arg		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L2185R	ENST00000367255.5	37	c.6554	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	A	11.79	1.744784	0.30865	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.16	5.27	5.27	0.74061	.	0.224065	0.31519	N	0.007518	T	0.21427	0.0516	N	0.14661	0.345	0.80722	D	1	P;P;P;P	0.42123	0.771;0.472;0.661;0.606	B;B;B;B	0.43623	0.424;0.174;0.229;0.425	T	0.14531	-1.0469	10	0.72032	D	0.01	.	15.4903	0.75600	1.0:0.0:0.0:0.0	.	2168;2185;2185;2192	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	R	2185;2192;2185;2192;2222	ENSP00000356224:L2185R;ENSP00000396024:L2192R;ENSP00000265368:L2185R;ENSP00000390975:L2192R;ENSP00000341887:L2222R	ENSP00000265368:L2185R	L	-	2	0	SYNE1	152770011	0.983000	0.35010	0.652000	0.29579	0.426000	0.31534	5.231000	0.65327	2.135000	0.66039	0.379000	0.24179	CTT	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000131018		0.433	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0.00	25	0	A	NM_182961		152728318	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	32.14	19	9	SNP	0.999	C
SYTL2	54843	genome.wustl.edu	37	11	85406306	85406306	+	Missense_Mutation	SNP	A	A	G			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr11:85406306A>G	ENST00000528231.1	-	18	3014	c.2737T>C	c.(2737-2739)Tcc>Ccc	p.S913P	SYTL2_ENST00000533892.1_Missense_Mutation_p.S315P|SYTL2_ENST00000524452.1_Missense_Mutation_p.S889P|SYTL2_ENST00000359152.5_Missense_Mutation_p.S1759P|SYTL2_ENST00000354566.3_Missense_Mutation_p.S1251P|SYTL2_ENST00000525702.1_Missense_Mutation_p.S355P|SYTL2_ENST00000389960.4_Missense_Mutation_p.S889P|SYTL2_ENST00000316356.4_Missense_Mutation_p.S914P|SYTL2_ENST00000389958.3_Missense_Mutation_p.S344P|SYTL2_ENST00000527523.1_Missense_Mutation_p.S881P|SYTL2_ENST00000525423.1_Missense_Mutation_p.S1235P|SYTL2_ENST00000529581.1_Missense_Mutation_p.S355P	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	913					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GTATTGGGGGAGTTTACCATC	0.443																																																	0													112.0	107.0	109.0					11																	85406306		2203	4299	6502	SO:0001583	missense	0			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.2737T>C	11.37:g.85406306A>G	ENSP00000431701:p.Ser913Pro		B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.S1759P	ENST00000528231.1	37	c.5275	CCDS53688.1	11	.	.	.	.	.	.	.	.	.	.	A	17.82	3.482005	0.63849	.	.	ENSG00000137501	ENST00000389960;ENST00000359152;ENST00000354566;ENST00000316356;ENST00000525702;ENST00000525423;ENST00000529581;ENST00000389958;ENST00000530351;ENST00000528231;ENST00000533892;ENST00000527523;ENST00000524452	T;T;T;T;T;T;T;T;T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58	5.78	2.05	0.26809	C2 calcium/lipid-binding domain, CaLB (1);	0.483897	0.24611	N	0.037047	T	0.75766	0.3894	M	0.65498	2.005	0.09310	N	1	P;D;D;P;P;D;D;D;P;D	0.71674	0.936;0.986;0.977;0.936;0.937;0.998;0.996;0.997;0.898;0.957	P;P;P;P;P;D;P;D;P;P	0.69307	0.596;0.899;0.756;0.596;0.691;0.963;0.879;0.947;0.713;0.799	T	0.63739	-0.6569	9	.	.	.	-0.8891	2.5121	0.04659	0.5318:0.1625:0.0694:0.2362	.	881;889;913;914;731;1211;1235;1251;344;315	Q9HCH5-14;Q9HCH5-6;Q9HCH5;Q9HCH5-13;Q9HCH5-15;Q9HCH5-11;Q9HCH5-7;Q9HCH5-8;Q9HCH5-9;Q9HCH5-4	.;.;SYTL2_HUMAN;.;.;.;.;.;.;.	P	889;1759;1251;914;355;1235;355;344;630;913;315;881;889	ENSP00000374610:S889P;ENSP00000352065:S1759P;ENSP00000346576:S1251P;ENSP00000318803:S914P;ENSP00000432996:S355P;ENSP00000432694:S1235P;ENSP00000435855:S355P;ENSP00000374608:S344P;ENSP00000435009:S630P;ENSP00000431701:S913P;ENSP00000432144:S315P;ENSP00000434010:S881P;ENSP00000435238:S889P	.	S	-	1	0	SYTL2	85083954	0.176000	0.23096	0.886000	0.34754	0.968000	0.65278	0.912000	0.28597	0.360000	0.24265	0.533000	0.62120	TCC	SYTL2	-	superfamily_C2_dom	ENSG00000137501		0.443	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL2	HGNC	protein_coding	OTTHUMT00000392192.1		0.00	41	0	A	NM_206927		85406306	-1			no_errors	ENST00000359152	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.024	G
TARBP1	6894	genome.wustl.edu	37	1	234563510	234563510	+	Silent	SNP	A	A	G			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr1:234563510A>G	ENST00000040877.1	-	18	3062	c.3063T>C	c.(3061-3063)atT>atC	p.I1021I		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1021					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TCTTGTACATAATCTGGAATA	0.318																																																	0													54.0	54.0	54.0					1																	234563510		2202	4300	6502	SO:0001819	synonymous_variant	0				CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.3063T>C	1.37:g.234563510A>G			Q9H581	Silent	SNP	pfam_SpoU_MeTrfase,superfamily_ARM-type_fold	p.I1021	ENST00000040877.1	37	c.3063	CCDS1601.1	1																																																																																			TARBP1	-	superfamily_ARM-type_fold	ENSG00000059588		0.318	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TARBP1	HGNC	protein_coding	OTTHUMT00000092616.1	-	0.00	72	0	A	NM_005646		234563510	-1	tier1	-	no_errors	ENST00000040877	ensembl	human	novel	74_37	silent	24.51	77	25	SNP	0.995	G
TBC1D16	125058	genome.wustl.edu	37	17	77917903	77917903	+	Intron	DEL	C	C	-			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr17:77917903delC	ENST00000310924.2	-	10	2024				TBC1D16_ENST00000572862.1_Frame_Shift_Del_p.A276fs|TBC1D16_ENST00000570373.1_Frame_Shift_Del_p.A277fs|TBC1D16_ENST00000340848.7_Intron|TBC1D16_ENST00000576768.1_Intron	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16								Rab GTPase activator activity (GO:0005097)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			CAGACATCAGCCCCCTGCGGT	0.607																																					Ovarian(14;397 562 4850 31922 49378)												0																																										SO:0001627	intron_variant	0			AL157485	CCDS11766.1, CCDS62351.1, CCDS62352.1, CCDS62353.1	17q25.3	2013-07-10				ENSG00000167291			28356	protein-coding gene	gene with protein product						23019362	Standard	NM_019020		Approved	MGC25062, FLJ20748	uc002jxj.4	Q8TBP0		ENST00000310924.2:c.1908+803G>-	17.37:g.77917903delC			B9A6L7|I3L1E0|I3L4U2|Q8N3Z4|Q96DH7	Frame_Shift_Del	DEL	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.A277fs	ENST00000310924.2	37	c.829	CCDS11766.1	17																																																																																			TBC1D16	-	smart_Rab-GTPase-TBC_dom	ENSG00000167291		0.607	TBC1D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D16	HGNC	protein_coding	OTTHUMT00000437145.1		0.00	22	0	C	NM_019020		77917903	-1	tier1		no_errors	ENST00000570373	ensembl	human	putative	74_37	frame_shift_del	13.33	13	2	DEL	0.001	-
TCL6	27004	genome.wustl.edu	37	14	96138523	96138523	+	RNA	SNP	T	T	C			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr14:96138523T>C	ENST00000467865.1	+	0	2397				RP11-1070N10.6_ENST00000461160.1_RNA					T-cell leukemia/lymphoma 6 (non-protein coding)											large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		GGGTGAAAACTCAGAAGAAAG	0.413			T	TRA@	T-ALL																																			Dom	yes		14	14q32.1	27004	T-cell leukemia/lymphoma 6		L	0																																												0			AB035338		14q32.1	2012-10-16	2010-06-01		ENSG00000187621	ENSG00000187621		"""Long non-coding RNAs"""	13463	non-coding RNA	RNA, long non-coding		604412	"""T-cell leukemia/lymphoma 6"""			10588720, 10851082	Standard	NR_028288		Approved	TCL6e1, TNG2, TNG1	uc001yev.2		OTTHUMG00000149979		14.37:g.96138523T>C				RNA	SNP	-	NULL	ENST00000467865.1	37	NULL		14																																																																																			TCL6	-	-	ENSG00000187621		0.413	TCL6-009	KNOWN	basic	lincRNA	TCL6	HGNC	processed_transcript	OTTHUMT00000315133.1	-	0.00	20	0	T	NM_012468		96138523	+1	tier1	-	no_errors	ENST00000459662	ensembl	human	known	74_37	rna	43.33	17	13	SNP	0.000	C
THSD7B	80731	genome.wustl.edu	37	2	138414722	138414722	+	Missense_Mutation	SNP	A	A	C			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr2:138414722A>C	ENST00000409968.1	+	24	4545	c.4367A>C	c.(4366-4368)aAt>aCt	p.N1456T	THSD7B_ENST00000543459.1_Missense_Mutation_p.M291L|THSD7B_ENST00000413152.2_Missense_Mutation_p.N1428T|THSD7B_ENST00000272643.3_Missense_Mutation_p.N1459T			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1458						integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GATGGCGTTAATGTCACAGGT	0.403																																																	0													105.0	101.0	102.0					2																	138414722		1947	4146	6093	SO:0001583	missense	0					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.4367A>C	2.37:g.138414722A>C	ENSP00000387145:p.Asn1456Thr			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.N1459T	ENST00000409968.1	37	c.4376		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.54|14.54	2.564448|2.564448	0.45694|0.45694	.|.	.|.	ENSG00000144229|ENSG00000144229	ENST00000543459|ENST00000409968;ENST00000272643;ENST00000413152	T|T;T;T	0.20463|0.25250	2.07|2.33;2.2;1.81	6.13|6.13	6.13|6.13	0.99165|0.99165	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.50171|0.50171	0.1600|0.1600	M|M	0.72118|0.72118	2.19|2.19	0.31210|0.31210	N|N	0.698715|0.698715	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	T|T	0.53648|0.53648	-0.8409|-0.8409	7|10	0.10636|0.23302	T|T	0.68|0.38	.|.	16.8061|16.8061	0.85666|0.85666	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1428	.|C9JKN6	.|.	L|T	291|1456;1459;1428	ENSP00000443370:M291L|ENSP00000387145:N1456T;ENSP00000272643:N1459T;ENSP00000413841:N1428T	ENSP00000443370:M291L|ENSP00000272643:N1459T	M|N	+|+	1|2	0|0	THSD7B|THSD7B	138131192|138131192	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.992000|0.992000	0.81027|0.81027	8.958000|8.958000	0.93099|0.93099	2.367000|2.367000	0.80283|0.80283	0.529000|0.529000	0.55759|0.55759	ATG|AAT	THSD7B	-	NULL	ENSG00000144229		0.403	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2	-	0.00	48	0	A	XM_046570.9		138414722	+1	tier1	-	no_errors	ENST00000272643	ensembl	human	known	74_37	missense	80.70	11	46	SNP	1.000	C
TLK2	11011	genome.wustl.edu	37	17	60689902	60689902	+	Silent	SNP	G	G	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr17:60689902G>A	ENST00000326270.9	+	23	2563	c.2295G>A	c.(2293-2295)gcG>gcA	p.A765A	TLK2_ENST00000582809.1_Silent_p.A594A|TLK2_ENST00000346027.5_Silent_p.A743A|TLK2_ENST00000542523.1_Silent_p.A711A|TLK2_ENST00000343388.7_Silent_p.A711A	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	765					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						CCTCTGGGGCGTCCAATAACA	0.498																																																	0													55.0	48.0	51.0					17																	60689902		2203	4298	6501	SO:0001819	synonymous_variant	0			AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.2295G>A	17.37:g.60689902G>A			D3DU07|Q9UKI7|Q9Y4F7	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A765	ENST00000326270.9	37	c.2295		17																																																																																			TLK2	-	superfamily_Kinase-like_dom	ENSG00000146872		0.498	TLK2-004	KNOWN	basic	protein_coding	TLK2	HGNC	protein_coding	OTTHUMT00000445140.1	-	0.00	51	0	G	NM_006852		60689902	+1	tier1	-	no_errors	ENST00000326270	ensembl	human	known	74_37	silent	22.81	44	13	SNP	0.935	A
TNNC2	7125	genome.wustl.edu	37	20	44453234	44453234	+	Silent	SNP	C	C	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr20:44453234C>T	ENST00000372555.3	-	3	191	c.99G>A	c.(97-99)ggG>ggA	p.G33G	TNNC2_ENST00000372557.1_Silent_p.G18G	NM_003279.2	NP_003270.1	P02585	TNNC2_HUMAN	troponin C type 2 (fast)	33	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				muscle filament sliding (GO:0030049)|regulation of muscle contraction (GO:0006937)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.0122)			Felodipine(DB01023)	CGCTGATGTCCCCACCACCAT	0.602																																																	0													108.0	83.0	92.0					20																	44453234		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13375.1	20q12-q13.11	2013-01-10	2005-09-12		ENSG00000101470	ENSG00000101470		"""EF-hand domain containing"""	11944	protein-coding gene	gene with protein product		191039	"""troponin C2, fast"""			2373703	Standard	NM_003279		Approved		uc002xpr.3	P02585	OTTHUMG00000032623	ENST00000372555.3:c.99G>A	20.37:g.44453234C>T			Q6FH92	Silent	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.G33	ENST00000372555.3	37	c.99	CCDS13375.1	20																																																																																			TNNC2	-	smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000101470		0.602	TNNC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TNNC2	HGNC	protein_coding	OTTHUMT00000079524.3	-	0.00	47	0	C	NM_003279		44453234	-1	tier1	-	no_errors	ENST00000372555	ensembl	human	known	74_37	silent	7.27	51	4	SNP	0.981	T
TNRC18	84629	genome.wustl.edu	37	7	5410472	5410472	+	Silent	SNP	G	G	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr7:5410472G>A	ENST00000430969.1	-	11	4101	c.3753C>T	c.(3751-3753)ccC>ccT	p.P1251P	TNRC18_ENST00000399537.4_Silent_p.P1251P	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1251							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCAGTGTCTCGGGTGTCAGCT	0.697																																																	0													12.0	15.0	14.0					7																	5410472		1984	4170	6154	SO:0001819	synonymous_variant	0			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.3753C>T	7.37:g.5410472G>A			A8MX41|Q96JH1|Q96K91	Silent	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.P1251	ENST00000430969.1	37	c.3753	CCDS47534.1	7																																																																																			TNRC18	-	NULL	ENSG00000182095		0.697	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	HGNC	protein_coding		-	0.00	114	0	G			5410472	-1	tier1	-	no_errors	ENST00000399537	ensembl	human	known	74_37	silent	36.36	84	48	SNP	0.000	A
TP53	7157	genome.wustl.edu	37	17	7574003	7574003	+	Nonsense_Mutation	SNP	G	G	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr17:7574003G>A	ENST00000269305.4	-	10	1213	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R342*|TP53_ENST00000420246.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	342	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCAGCTCTCGGAACATCTCG	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	89	Substitution - Nonsense(70)|Whole gene deletion(8)|Deletion - Frameshift(7)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)	breast(16)|upper_aerodigestive_tract(11)|large_intestine(9)|central_nervous_system(9)|ovary(7)|lung(6)|skin(5)|liver(5)|haematopoietic_and_lymphoid_tissue(4)|pancreas(4)|bone(4)|stomach(2)|urinary_tract(2)|oesophagus(2)|kidney(1)|peritoneum(1)|endometrium(1)	GRCh37	CM004908	TP53	M							62.0	48.0	53.0					17																	7574003		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1024C>T	17.37:g.7574003G>A	ENSP00000269305:p.Arg342*		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R342*	ENST00000269305.4	37	c.1024	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.061927	0.97246	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.43	3.43	0.39272	.	0.217683	0.37906	N	0.001893	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-0.3792	6.4477	0.21885	0.0845:0.0:0.5925:0.323	.	.	.	.	X	342;342;331	.	ENSP00000269305:R342X	R	-	1	2	TP53	7514728	0.820000	0.29190	0.702000	0.30337	0.859000	0.49053	2.169000	0.42434	0.657000	0.30906	0.561000	0.74099	CGA	TP53	-	pfam_p53_tetrameristn,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	ENSG00000141510		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	27	0	G	NM_000546		7574003	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	50.00	8	8	SNP	0.307	A
TRABD2B	388630	genome.wustl.edu	37	1	48267166	48267166	+	Missense_Mutation	SNP	G	G	C			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr1:48267166G>C	ENST00000606738.2	-	3	897	c.792C>G	c.(790-792)atC>atG	p.I264M	TRABD2B_ENST00000435576.2_5'UTR	NM_001194986.1	NP_001181915.1	A6NFA1	TIKI2_HUMAN	TraB domain containing 2B	264					metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)										CGTGGTTGAAGATGACTGCGC	0.562																																																	0																																										SO:0001583	missense	0				CCDS58000.1	1p33	2012-07-04			ENSG00000204018				44200	protein-coding gene	gene with protein product		614913					Standard	NM_001194986		Approved		uc021ong.1	A6NFA1	OTTHUMG00000007960	ENST00000606738.2:c.792C>G	1.37:g.48267166G>C	ENSP00000476820:p.Ile264Met		I6U4Y0	Missense_Mutation	SNP	superfamily_SuperAg_toxin_C	p.I264M	ENST00000606738.2	37	c.792	CCDS58000.1	1																																																																																			TRABD2B	-	superfamily_SuperAg_toxin_C	ENSG00000269113		0.562	TRABD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRABD2B	HGNC	protein_coding	OTTHUMT00000021842.3	-	0.00	32	0	G	NM_001194986		48267166	-1	tier1	-	no_errors	ENST00000606738	ensembl	human	known	74_37	missense	34.15	27	14	SNP	1.000	C
TRABD2B	388630	genome.wustl.edu	37	1	48267180	48267180	+	Missense_Mutation	SNP	G	G	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr1:48267180G>A	ENST00000606738.2	-	3	883	c.778C>T	c.(778-780)Ctc>Ttc	p.L260F	TRABD2B_ENST00000435576.2_5'UTR	NM_001194986.1	NP_001181915.1	A6NFA1	TIKI2_HUMAN	TraB domain containing 2B	260					metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)										ACTGCGCTGAGGTCTCCGCAG	0.577																																																	0																																										SO:0001583	missense	0				CCDS58000.1	1p33	2012-07-04			ENSG00000204018				44200	protein-coding gene	gene with protein product		614913					Standard	NM_001194986		Approved		uc021ong.1	A6NFA1	OTTHUMG00000007960	ENST00000606738.2:c.778C>T	1.37:g.48267180G>A	ENSP00000476820:p.Leu260Phe		I6U4Y0	Missense_Mutation	SNP	superfamily_SuperAg_toxin_C	p.L260F	ENST00000606738.2	37	c.778	CCDS58000.1	1																																																																																			TRABD2B	-	superfamily_SuperAg_toxin_C	ENSG00000269113		0.577	TRABD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRABD2B	HGNC	protein_coding	OTTHUMT00000021842.3	-	0.00	37	0	G	NM_001194986		48267180	-1	tier1	-	no_errors	ENST00000606738	ensembl	human	known	74_37	missense	33.33	26	13	SNP	1.000	A
TRANK1	9881	genome.wustl.edu	37	3	36900336	36900336	+	Silent	SNP	G	G	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr3:36900336G>A	ENST00000429976.2	-	11	1660	c.1413C>T	c.(1411-1413)tgC>tgT	p.C471C	TRANK1_ENST00000428977.2_5'UTR|TRANK1_ENST00000301807.6_5'UTR	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	471							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CATGTTTCAGGCACGTGACAA	0.567																																																	0													87.0	79.0	82.0					3																	36900336		692	1591	2283	SO:0001819	synonymous_variant	0			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.1413C>T	3.37:g.36900336G>A			Q8N8K0	Silent	SNP	pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom	p.C471	ENST00000429976.2	37	c.1413	CCDS46789.2	3																																																																																			TRANK1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000168016		0.567	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TRANK1	HGNC	protein_coding		-	0.00	53	0	G	NM_014831		36900336	-1	tier1	-	no_errors	ENST00000429976	ensembl	human	known	74_37	silent	8.70	42	4	SNP	0.971	A
TRIM35	23087	genome.wustl.edu	37	8	27145471	27145471	+	Missense_Mutation	SNP	C	C	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr8:27145471C>T	ENST00000305364.4	-	6	1161	c.1078G>A	c.(1078-1080)Gtg>Atg	p.V360M	TRIM35_ENST00000521253.1_3'UTR	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	360	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		CCAAGGGCCACCTCCCAGGCG	0.692																																																	0													26.0	27.0	27.0					8																	27145471		2193	4287	6480	SO:0001583	missense	0			AB029021	CCDS6056.2	8p21.2	2013-01-09	2011-01-25		ENSG00000104228	ENSG00000104228		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16285	protein-coding gene	gene with protein product			"""tripartite motif-containing 35"""			11331580, 14662771, 12692137	Standard	XM_005273451		Approved	KIAA1098, MAIR, HLS5	uc003xfl.1	Q9UPQ4	OTTHUMG00000102047	ENST00000305364.4:c.1078G>A	8.37:g.27145471C>T	ENSP00000301924:p.Val360Met		Q86XQ0|Q8WVA4	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.V360M	ENST00000305364.4	37	c.1078	CCDS6056.2	8	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529536	0.85706	.	.	ENSG00000104228	ENST00000305364;ENST00000380544	T	0.76839	-1.05	5.42	5.42	0.78866	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000013	D	0.90748	0.7096	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92783	0.6242	10	0.87932	D	0	.	14.7176	0.69280	0.0:1.0:0.0:0.0	.	360	Q9UPQ4	TRI35_HUMAN	M	360	ENSP00000301924:V360M	ENSP00000301924:V360M	V	-	1	0	TRIM35	27201388	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	6.929000	0.75852	2.544000	0.85801	0.313000	0.20887	GTG	TRIM35	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000104228		0.692	TRIM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM35	HGNC	protein_coding	OTTHUMT00000219848.2	-	0.00	41	0	C	NM_171982		27145471	-1	tier1	-	no_errors	ENST00000305364	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	T
TRIM64B	642446	genome.wustl.edu	37	11	89603859	89603859	+	Missense_Mutation	SNP	A	A	C			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr11:89603859A>C	ENST00000329862.6	-	6	1279	c.1280T>G	c.(1279-1281)cTt>cGt	p.L427R		NM_001136486.1|NM_001164397.1	NP_001129958.1|NP_001157869.1	A6NI03	TR64B_HUMAN	tripartite motif containing 64B	427	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)	2						ACCATAGATAAGAGAACCTTT	0.403																																																	0													8.0	15.0	13.0					11																	89603859		525	1269	1794	SO:0001583	missense	0				CCDS53693.1	11q14.3	2014-04-02	2011-01-25		ENSG00000189253	ENSG00000189253		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	37147	protein-coding gene	gene with protein product			"""tripartite motif-containing 64B"""				Standard	NM_001164397		Approved		uc021qoo.1	A6NI03	OTTHUMG00000167638	ENST00000329862.6:c.1280T>G	11.37:g.89603859A>C	ENSP00000332969:p.Leu427Arg			Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.L427R	ENST00000329862.6	37	c.1280	CCDS53693.1	11	.	.	.	.	.	.	.	.	.	.	.	12.01	1.811023	0.32053	.	.	ENSG00000189253	ENST00000329862	T	0.66099	-0.19	2.2	0.894	0.19242	.	.	.	.	.	T	0.68760	0.3036	M	0.85373	2.75	0.09310	N	1	.	.	.	.	.	.	T	0.60454	-0.7260	6	.	.	.	.	4.9278	0.13901	0.6807:0.3193:0.0:0.0	.	.	.	.	R	427	ENSP00000332969:L427R	.	L	-	2	0	TRIM64B	89243507	0.001000	0.12720	0.009000	0.14445	0.144000	0.21451	-0.453000	0.06778	0.077000	0.16863	0.321000	0.21382	CTT	TRIM64B	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000189253		0.403	TRIM64B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM64B	HGNC	protein_coding	OTTHUMT00000395440.1	-	0.00	224	0	A			89603859	-1	tier1	-	no_errors	ENST00000329862	ensembl	human	known	74_37	missense	18.53	233	53	SNP	0.224	C
ART5	116969	genome.wustl.edu	37	11	3658509	3658509	+	IGR	SNP	C	C	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr11:3658509C>T	ENST00000397068.3	-	0	1504				TRPC2_ENST00000526541.1_RNA	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5						protein ADP-ribosylation (GO:0006471)	extracellular region (GO:0005576)|membrane (GO:0016020)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ nucleosidase activity (GO:0003953)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACGGTGCCAGCGTCCTCAGTC	0.617																																																	0																																										SO:0001628	intergenic_variant	0			Y16835	CCDS7743.1, CCDS73242.1	11p15.4	2008-02-05			ENSG00000167311	ENSG00000167311			24049	protein-coding gene	gene with protein product		610625				11587854, 10448534	Standard	NM_001079536		Approved		uc001lyb.1	Q96L15	OTTHUMG00000011842		11.37:g.3658509C>T			C9IYG7|Q6UX84|Q86W02	RNA	SNP	-	NULL	ENST00000397068.3	37	NULL	CCDS7743.1	11																																																																																			TRPC2	-	-	ENSG00000182048		0.617	ART5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC2	HGNC	protein_coding	OTTHUMT00000032760.2	-	0.00	28	0	C	NM_053017		3658509	+1	tier1	-	no_errors	ENST00000526541	ensembl	human	known	74_37	rna	27.27	16	6	SNP	0.630	T
TRIM64B	642446	genome.wustl.edu	37	11	89604185	89604185	+	Silent	SNP	G	G	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr11:89604185G>A	ENST00000329862.6	-	6	953	c.954C>T	c.(952-954)ccC>ccT	p.P318P		NM_001136486.1|NM_001164397.1	NP_001129958.1|NP_001157869.1	A6NI03	TR64B_HUMAN	tripartite motif containing 64B	318	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)	2						GGGGATCCGTGGGAGCACTGA	0.517																																																	0													4.0	4.0	4.0					11																	89604185		665	1508	2173	SO:0001819	synonymous_variant	0				CCDS53693.1	11q14.3	2014-04-02	2011-01-25		ENSG00000189253	ENSG00000189253		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	37147	protein-coding gene	gene with protein product			"""tripartite motif-containing 64B"""				Standard	NM_001164397		Approved		uc021qoo.1	A6NI03	OTTHUMG00000167638	ENST00000329862.6:c.954C>T	11.37:g.89604185G>A				Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.P318	ENST00000329862.6	37	c.954	CCDS53693.1	11																																																																																			TRIM64B	-	superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000189253		0.517	TRIM64B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM64B	HGNC	protein_coding	OTTHUMT00000395440.1	-	0.00	89	0	G			89604185	-1	tier1	-	no_errors	ENST00000329862	ensembl	human	known	74_37	silent	17.33	62	13	SNP	0.000	A
TSSK3	81629	genome.wustl.edu	37	1	32828359	32828359	+	Silent	SNP	G	G	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr1:32828359G>T	ENST00000373534.3	+	1	562	c.57G>T	c.(55-57)ggG>ggT	p.G19G	FAM229A_ENST00000432622.1_5'Flank|FAM229A_ENST00000415596.1_Intron	NM_052841.3	NP_443073.1	Q96PN8	TSSK3_HUMAN	testis-specific serine kinase 3	19	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)				TTGGGGAAGGGACCTACTCAA	0.507																																																	0													108.0	116.0	113.0					1																	32828359		2203	4300	6503	SO:0001819	synonymous_variant	0			AF296450	CCDS362.1	1p35-p34	2008-02-05	2005-03-10	2005-03-12	ENSG00000162526	ENSG00000162526			15473	protein-coding gene	gene with protein product		607660	"""serine/threonine kinase 22C (spermiogenesis associated)"""	STK22C		11597141	Standard	NM_052841		Approved	SPOGA3	uc001bvf.3	Q96PN8	OTTHUMG00000007585	ENST00000373534.3:c.57G>T	1.37:g.32828359G>T			Q5TEE5	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G19	ENST00000373534.3	37	c.57	CCDS362.1	1																																																																																			TSSK3	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000162526		0.507	TSSK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSSK3	HGNC	protein_coding	OTTHUMT00000020049.1		0.00	78	0	G			32828359	+1			no_errors	ENST00000373534	ensembl	human	known	74_37	silent	5.00	76	4	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179634517	179634517	+	Missense_Mutation	SNP	C	C	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr2:179634517C>A	ENST00000591111.1	-	37	9015	c.8791G>T	c.(8791-8793)Gtg>Ttg	p.V2931L	TTN_ENST00000359218.5_Missense_Mutation_p.V2885L|TTN_ENST00000589042.1_Missense_Mutation_p.V2931L|TTN_ENST00000360870.5_Missense_Mutation_p.V2931L|TTN_ENST00000342175.6_Missense_Mutation_p.V2885L|TTN_ENST00000460472.2_Missense_Mutation_p.V2885L|TTN_ENST00000342992.6_Missense_Mutation_p.V2931L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000610005.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13261	Ig-like 16.				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)			TTTCCCTGCACAACTATCTTG	0.468																																																	0													213.0	207.0	209.0					2																	179634517		2203	4300	6503	SO:0001583	missense	0			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.8791G>T	2.37:g.179634517C>A	ENSP00000465570:p.Val2931Leu		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_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_dom,pfscan_Ig-like_dom	p.V2931L	ENST00000591111.1	37	c.8791		2	.	.	.	.	.	.	.	.	.	.	C	15.21	2.764517	0.49574	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31	5.93	5.93	0.95920	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76751	0.4031	L	0.53671	1.685	0.34225	D	0.675873	D;D;D;D;D	0.61697	0.962;0.962;0.962;0.981;0.99	P;P;P;P;P	0.56398	0.493;0.493;0.493;0.644;0.797	T	0.82082	-0.0633	9	0.87932	D	0	.	20.3363	0.98740	0.0:1.0:0.0:0.0	.	2885;2885;2885;2931;2931	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	L	2931;2885;2885;2885;2885;2931	ENSP00000343764:V2931L;ENSP00000434586:V2885L;ENSP00000340554:V2885L;ENSP00000352154:V2885L;ENSP00000354117:V2931L	ENSP00000340554:V2885L	V	-	1	0	TTN	179342762	1.000000	0.71417	0.979000	0.43373	0.997000	0.91878	4.914000	0.63348	2.814000	0.96858	0.563000	0.77884	GTG	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000155657		0.468	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	23	0	C	NM_133378		179634517	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	72.73	12	32	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179639844	179639844	+	Silent	SNP	A	A	C			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr2:179639844A>C	ENST00000591111.1	-	29	6818	c.6594T>G	c.(6592-6594)acT>acG	p.T2198T	TTN_ENST00000359218.5_Silent_p.T2152T|TTN_ENST00000589042.1_Silent_p.T2198T|TTN_ENST00000360870.5_Silent_p.T2198T|TTN_ENST00000342175.6_Silent_p.T2152T|TTN_ENST00000460472.2_Silent_p.T2152T|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342992.6_Silent_p.T2198T|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000610005.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12524	Ig-like 11.				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)			ATGGTTCTGAAGTTTCACATT	0.383																																																	0													135.0	128.0	130.0					2																	179639844		2203	4300	6503	SO:0001819	synonymous_variant	0			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.6594T>G	2.37:g.179639844A>C			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	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_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_dom,pfscan_Ig-like_dom	p.T2198	ENST00000591111.1	37	c.6594		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.383	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	46	0	A	NM_133378		179639844	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	8.47	54	5	SNP	0.994	C
UBXN1	51035	genome.wustl.edu	37	11	62444460	62444460	+	Silent	SNP	C	C	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr11:62444460C>T	ENST00000301935.5	-	8	835	c.669G>A	c.(667-669)ggG>ggA	p.G223G	UBXN1_ENST00000524762.1_5'UTR|UBXN1_ENST00000294119.2_Silent_p.G223G|UBXN1_ENST00000533000.1_Intron|UBXN1_ENST00000529640.1_Silent_p.G219G			Q04323	UBXN1_HUMAN	UBX domain protein 1	223	Interaction with BRCA1.|UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|K6-linked polyubiquitin binding (GO:0071796)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|lung(12)	17						TCAGTGAGGTCCCATCTGGCA	0.582																																																	0													48.0	50.0	49.0					11																	62444460		2202	4299	6501	SO:0001819	synonymous_variant	0				CCDS8029.1, CCDS66105.1, CCDS73307.1	11q23	2014-02-12	2008-07-25		ENSG00000162191	ENSG00000162191		"""UBX domain containing"""	18402	protein-coding gene	gene with protein product	"""SAPK substrate protein 1"""					12838346, 20351172	Standard	NM_001286078		Approved	LOC51035, 2B28, UBXD10, SAKS1	uc001nuj.3	Q04323	OTTHUMG00000167580	ENST00000301935.5:c.669G>A	11.37:g.62444460C>T			Q9BV93|Q9BVV5	Silent	SNP	pfam_UBX,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_UBX,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_UBX	p.G223	ENST00000301935.5	37	c.669		11																																																																																			UBXN1	-	pfam_UBX,smart_UBX,pfscan_UBX	ENSG00000162191		0.582	UBXN1-002	KNOWN	basic|appris_candidate_longest	protein_coding	UBXN1	HGNC	protein_coding	OTTHUMT00000395153.1		0.00	36	0	C	NM_015853		62444460	-1			no_errors	ENST00000294119	ensembl	human	known	74_37	silent	7.14	26	2	SNP	1.000	T
UHRF1	29128	genome.wustl.edu	37	19	4961946	4961946	+	RNA	SNP	A	A	G			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr19:4961946A>G	ENST00000592666.1	+	0	4089							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		TAATTTTACCAAAGTTTGCAG	0.303																																																	0																																												0			AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4961946A>G			A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	SNP	-	NULL	ENST00000592666.1	37	NULL		19																																																																																			UHRF1	-	-	ENSG00000034063		0.303	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	UHRF1	HGNC	processed_transcript	OTTHUMT00000450444.1	-	0.00	26	0	A	NM_001048201		4961946	+1	tier1	-	no_errors	ENST00000262952	ensembl	human	known	74_37	rna	25.00	18	6	SNP	1.000	G
VWA2	340706	genome.wustl.edu	37	10	116048899	116048899	+	Silent	SNP	G	G	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr10:116048899G>A	ENST00000392982.3	+	12	2023	c.1773G>A	c.(1771-1773)cgG>cgA	p.R591R	VWA2_ENST00000603594.1_Silent_p.R591R			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	591	VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		AACCCACCCGGGCTGCGATGC	0.642																																																	0													41.0	37.0	38.0					10																	116048899		2203	4300	6503	SO:0001819	synonymous_variant	0			AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.1773G>A	10.37:g.116048899G>A			A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Silent	SNP	pfam_VWF_A,pfam_EG-like_dom,pfam_EGF_extracell,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_VWF_A	p.R591	ENST00000392982.3	37	c.1773		10																																																																																			VWA2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000165816		0.642	VWA2-001	KNOWN	basic|appris_principal	protein_coding	VWA2	HGNC	protein_coding	OTTHUMT00000050456.3	-	0.00	34	0	G	NM_198496		116048899	+1	tier1	-	no_errors	ENST00000392982	ensembl	human	known	74_37	silent	25.00	27	9	SNP	0.001	A
WDR33	55339	genome.wustl.edu	37	2	128476957	128476957	+	Missense_Mutation	SNP	G	G	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr2:128476957G>T	ENST00000322313.4	-	16	2800	c.2642C>A	c.(2641-2643)cCc>cAc	p.P881H		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	881					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CTGAGGTCCGGGGGGTCCTTG	0.627																																																	0													77.0	84.0	81.0					2																	128476957		2203	4300	6503	SO:0001583	missense	0				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.2642C>A	2.37:g.128476957G>T	ENSP00000325377:p.Pro881His		Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P881H	ENST00000322313.4	37	c.2642	CCDS2150.1	2	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721852	0.68959	.	.	ENSG00000136709	ENST00000322313	D	0.90444	-2.67	5.25	5.25	0.73442	.	0.202391	0.42964	D	0.000635	D	0.82879	0.5133	N	0.19112	0.55	0.80722	D	1	P	0.40000	0.698	B	0.30179	0.112	D	0.85856	0.1407	10	0.72032	D	0.01	-7.2121	17.9754	0.89126	0.0:0.0:1.0:0.0	.	881	Q9C0J8	WDR33_HUMAN	H	881	ENSP00000325377:P881H	ENSP00000325377:P881H	P	-	2	0	WDR33	128193427	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.554000	0.67294	2.596000	0.87737	0.563000	0.77884	CCC	WDR33	-	NULL	ENSG00000136709		0.627	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR33	HGNC	protein_coding	OTTHUMT00000331141.2		0.00	48	0	G	NM_018383		128476957	-1			no_errors	ENST00000322313	ensembl	human	known	74_37	missense	5.66	50	3	SNP	1.000	T
WHAMM	123720	genome.wustl.edu	37	15	83499739	83499739	+	Missense_Mutation	SNP	G	G	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr15:83499739G>A	ENST00000286760.4	+	9	2129	c.2030G>A	c.(2029-2031)cGg>cAg	p.R677Q		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules	677	Mediates actin nucleation. {ECO:0000269|PubMed:18614018}.				actin filament organization (GO:0007015)|actin filament reorganization (GO:0090527)|ER to Golgi vesicle-mediated transport (GO:0006888)|focal adhesion assembly (GO:0048041)|lamellipodium assembly (GO:0030032)|membrane tubulation (GO:0097320)|positive regulation of actin nucleation (GO:0051127)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|Golgi membrane (GO:0000139)	Arp2/3 complex binding (GO:0071933)|GTP-Rho binding (GO:0017049)|microtubule binding (GO:0008017)	p.R677Q(2)		endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						TTAGGCTTCCGGGCTCCAGTG	0.587																																																	2	Substitution - Missense(2)	endometrium(2)											60.0	65.0	63.0					15																	83499739		2126	4250	6376	SO:0001583	missense	0			AK126887	CCDS45333.1	15q25.2	2009-02-18	2009-02-18	2009-02-18	ENSG00000156232	ENSG00000156232			30493	protein-coding gene	gene with protein product		612393	"""WAS protein homology region 2 domain containing 1"""	WHDC1		11853319, 18226259, 18614018, 18812086	Standard	XM_005272422		Approved	KIAA1971	uc002bje.3	Q8TF30		ENST00000286760.4:c.2030G>A	15.37:g.83499739G>A	ENSP00000286760:p.Arg677Gln		Q8N1J9	Missense_Mutation	SNP	superfamily_tRNA-bd_arm,pfscan_WH2_dom	p.R677Q	ENST00000286760.4	37	c.2030	CCDS45333.1	15	.	.	.	.	.	.	.	.	.	.	G	14.51	2.556540	0.45487	.	.	ENSG00000156232	ENST00000286760;ENST00000234505	T	0.09163	3.01	4.43	1.27	0.21489	.	3.921550	0.00904	N	0.002383	T	0.05593	0.0147	N	0.08118	0	0.09310	N	1	B	0.18968	0.032	B	0.13407	0.009	T	0.31943	-0.9925	10	0.12766	T	0.61	.	4.0038	0.09592	0.2087:0.0:0.6066:0.1847	.	677	Q8TF30	WHAMM_HUMAN	Q	677	ENSP00000286760:R677Q	ENSP00000234505:R677Q	R	+	2	0	WHAMM	81296793	0.017000	0.18338	0.000000	0.03702	0.792000	0.44763	1.792000	0.38754	0.478000	0.27488	0.205000	0.17691	CGG	WHAMM	-	NULL	ENSG00000156232		0.587	WHAMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WHAMM	HGNC	protein_coding	OTTHUMT00000418463.1	-	0.00	13	0	G			83499739	+1	tier1	-	no_errors	ENST00000286760	ensembl	human	known	74_37	missense	66.67	2	4	SNP	0.000	A
WWOX	51741	genome.wustl.edu	37	16	78458795	78458795	+	Missense_Mutation	SNP	G	G	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr16:78458795G>A	ENST00000566780.1	+	7	1000	c.634G>A	c.(634-636)Gca>Aca	p.A212T	WWOX_ENST00000539474.2_Intron|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000406884.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.A212T	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	212	Interaction with MAPT. {ECO:0000250}.|Mediates targeting to the mitochondria. {ECO:0000250}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		GTGCAACGCAGCAACTTTTGC	0.478																																																	0													299.0	301.0	301.0					16																	78458795		1948	4146	6094	SO:0001583	missense	0			AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	12799	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 41C, member 1"""	605131	"""WW domain-containing oxidoreductase"""			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.634G>A	16.37:g.78458795G>A	ENSP00000457230:p.Ala212Thr		A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Missense_Mutation	SNP	pfam_WW_dom,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom,prints_Glc/ribitol_DH	p.A212T	ENST00000566780.1	37	c.634	CCDS42196.1	16	.	.	.	.	.	.	.	.	.	.	G	16.53	3.150058	0.57151	.	.	ENSG00000186153	ENST00000408984;ENST00000299644	T	0.28895	1.59	5.55	5.55	0.83447	NAD(P)-binding domain (1);	0.056111	0.64402	D	0.000001	T	0.47801	0.1465	L	0.60012	1.86	0.47621	D	0.999475	B	0.27192	0.171	B	0.44085	0.44	T	0.49062	-0.8978	10	0.87932	D	0	.	19.5047	0.95110	0.0:0.0:1.0:0.0	.	212	Q9NZC7	WWOX_HUMAN	T	212;55	ENSP00000386161:A212T	ENSP00000299644:A55T	A	+	1	0	WWOX	77016296	1.000000	0.71417	0.801000	0.32222	0.472000	0.32918	8.578000	0.90777	2.585000	0.87301	0.655000	0.94253	GCA	WWOX	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH	ENSG00000186153		0.478	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	WWOX	HGNC	protein_coding	OTTHUMT00000434328.1		0.00	32	0	G			78458795	+1			no_errors	ENST00000566780	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	A
ZBTB18	10472	genome.wustl.edu	37	1	244217428	244217428	+	Missense_Mutation	SNP	A	A	G			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr1:244217428A>G	ENST00000358704.4	+	2	501	c.352A>G	c.(352-354)Att>Gtt	p.I118V		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	109					cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CATGTATGACATTGTCAAAGT	0.458																																																	0													68.0	64.0	65.0					1																	244217428		2203	4300	6503	SO:0001583	missense	0			U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13030	protein-coding gene	gene with protein product		608433	"""zinc finger protein 238"""	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.352A>G	1.37:g.244217428A>G	ENSP00000351539:p.Ile118Val		A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.I118V	ENST00000358704.4	37	c.352	CCDS1622.1	1	.	.	.	.	.	.	.	.	.	.	A	17.42	3.383967	0.61845	.	.	ENSG00000179456	ENST00000366538;ENST00000358704	T	0.68624	-0.34	5.29	5.29	0.74685	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.65790	0.2725	N	0.05554	-0.025	0.58432	D	0.999999	P;B;P	0.47604	0.898;0.388;0.51	D;B;B	0.65443	0.935;0.106;0.303	T	0.70861	-0.4757	10	0.42905	T	0.14	.	15.2248	0.73342	1.0:0.0:0.0:0.0	.	118;109;118	B4DF20;Q99592;Q99592-2	.;ZN238_HUMAN;.	V	118	ENSP00000351539:I118V	ENSP00000351539:I118V	I	+	1	0	ZNF238	242284051	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.006000	0.58801	0.533000	0.62120	ATT	ZBTB18	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	ENSG00000179456		0.458	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB18	HGNC	protein_coding	OTTHUMT00000096513.2		0.00	12	0	A	NM_205768		244217428	+1			no_errors	ENST00000358704	ensembl	human	known	74_37	missense	18.18	18	4	SNP	1.000	G
ZBTB24	9841	genome.wustl.edu	37	6	109787701	109787701	+	Missense_Mutation	SNP	G	G	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr6:109787701G>T	ENST00000230122.3	-	7	1614	c.1447C>A	c.(1447-1449)Cta>Ata	p.L483I	MICAL1_ENST00000368952.4_5'Flank	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	483					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		CCAGTGTGTAGAATGCAGTGT	0.423																																																	0													84.0	89.0	87.0					6																	109787701		2203	4300	6503	SO:0001583	missense	0			AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	21143	protein-coding gene	gene with protein product	"""POZ (BTB) and AT hook containing zinc finger 2"""	614064	"""zinc finger protein 450"""	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.1447C>A	6.37:g.109787701G>T	ENSP00000230122:p.Leu483Ile		Q17RC6|Q5TED5|Q8N455	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L483I	ENST00000230122.3	37	c.1447	CCDS34509.1	6	.	.	.	.	.	.	.	.	.	.	G	12.08	1.829239	0.32329	.	.	ENSG00000112365	ENST00000230122	T	0.17528	2.27	6.03	2.88	0.33553	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.071637	0.64402	D	0.000016	T	0.01558	0.0050	N	0.05574	-0.02	0.23802	N	0.996805	B	0.18968	0.032	B	0.26202	0.067	T	0.46762	-0.9168	10	0.02654	T	1	-14.5559	4.0606	0.09837	0.3179:0.0:0.5127:0.1694	.	483	O43167	ZBT24_HUMAN	I	483	ENSP00000230122:L483I	ENSP00000230122:L483I	L	-	1	2	ZBTB24	109894394	1.000000	0.71417	0.712000	0.30502	0.897000	0.52465	3.576000	0.53878	0.847000	0.35167	0.655000	0.94253	CTA	ZBTB24	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000112365		0.423	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB24	HGNC	protein_coding	OTTHUMT00000041758.1	-	0.00	77	0	G	NM_014797		109787701	-1	tier1	-	no_errors	ENST00000230122	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.677	T
ZBTB4	57659	genome.wustl.edu	37	17	7365493	7365493	+	Nonsense_Mutation	SNP	G	G	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr17:7365493G>T	ENST00000311403.4	-	4	3147	c.2808C>A	c.(2806-2808)taC>taA	p.Y936*	ZBTB4_ENST00000380599.4_Nonsense_Mutation_p.Y936*	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	936					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		TACTGAAGTTGTAAGGGTAGG	0.607																																																	0													132.0	138.0	136.0					17																	7365493		2203	4300	6503	SO:0001587	stop_gained	0			AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.2808C>A	17.37:g.7365493G>T	ENSP00000307858:p.Tyr936*		B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Nonsense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.Y936*	ENST00000311403.4	37	c.2808	CCDS11107.1	17	.	.	.	.	.	.	.	.	.	.	G	40	8.219524	0.98712	.	.	ENSG00000174282	ENST00000311403;ENST00000380599	.	.	.	5.09	3.09	0.35607	.	0.199048	0.34507	N	0.003919	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.2898	9.2174	0.37355	0.1736:0.0:0.8264:0.0	.	.	.	.	X	936	.	ENSP00000307858:Y936X	Y	-	3	2	ZBTB4	7306217	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.240000	0.51368	0.563000	0.29222	-0.291000	0.09656	TAC	ZBTB4	-	NULL	ENSG00000174282		0.607	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB4	HGNC	protein_coding	OTTHUMT00000226940.2	-	0.00	92	0	G	NM_020899		7365493	-1	tier1	-	no_errors	ENST00000311403	ensembl	human	known	74_37	nonsense	6.90	54	4	SNP	1.000	T
ZDHHC8P1	150244	genome.wustl.edu	37	22	23734933	23734933	+	RNA	SNP	G	G	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr22:23734933G>A	ENST00000255890.4	-	0	1263									zinc finger, DHHC-type containing 8 pseudogene 1																		GGGGCAGGGGGTAGTGGGGAG	0.617																																																	0																																												0					22q11.23	2010-02-25	2010-02-25	2010-02-25	ENSG00000133519	ENSG00000133519			26461	pseudogene	pseudogene			"""zinc finger, DHHC-type containing 8 pseudogene"""	ZDHHC8P			Standard	NR_003950		Approved	FLJ31568	uc002zwz.5		OTTHUMG00000150650		22.37:g.23734933G>A				RNA	SNP	-	NULL	ENST00000255890.4	37	NULL		22																																																																																			ZDHHC8P1	-	-	ENSG00000133519		0.617	ZDHHC8P1-001	KNOWN	basic	processed_transcript	ZDHHC8P1	HGNC	pseudogene	OTTHUMT00000319397.1		0.00	65	0	G	NR_003950		23734933	-1			no_errors	ENST00000420968	ensembl	human	known	74_37	rna	6.35	59	4	SNP	0.000	A
ZIC5	85416	genome.wustl.edu	37	13	100623848	100623848	+	Missense_Mutation	SNP	G	G	T			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr13:100623848G>T	ENST00000267294.4	-	1	315	c.82C>A	c.(82-84)Cct>Act	p.P28T		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	28					cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTGCTCAAAGGGGGCTCCATC	0.567																																																	0													9.0	10.0	9.0					13																	100623848		2186	4268	6454	SO:0001583	missense	0			AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"""Zinc fingers, C2H2-type"""	20322	protein-coding gene	gene with protein product			"""Zic family member 5 (odd-paired homolog, Drosophila)"""				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.82C>A	13.37:g.100623848G>T	ENSP00000267294:p.Pro28Thr		Q5VYB0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P28T	ENST00000267294.4	37	c.82	CCDS9494.2	13	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282522	0.40394	.	.	ENSG00000139800	ENST00000267294	T	0.15256	2.44	4.26	4.26	0.50523	.	.	.	.	.	T	0.26011	0.0634	L	0.29908	0.895	0.51767	D	0.999935	D	0.76494	0.999	D	0.64144	0.922	T	0.01298	-1.1392	9	0.40728	T	0.16	.	13.1932	0.59723	0.0:0.1612:0.8388:0.0	.	28	Q96T25	ZIC5_HUMAN	T	28	ENSP00000267294:P28T	ENSP00000267294:P28T	P	-	1	0	ZIC5	99421849	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.364000	0.52328	2.165000	0.68154	0.305000	0.20034	CCT	ZIC5	-	NULL	ENSG00000139800		0.567	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ZIC5	HGNC	protein_coding	OTTHUMT00000045623.3	-	0.00	77	0	G	NM_033132		100623848	-1	tier1	-	no_errors	ENST00000267294	ensembl	human	known	74_37	missense	36.71	50	29	SNP	1.000	T
ZNF106	64397	genome.wustl.edu	37	15	42743781	42743781	+	Missense_Mutation	SNP	G	G	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr15:42743781G>A	ENST00000263805.4	-	2	946	c.620C>T	c.(619-621)tCt>tTt	p.S207F	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	207					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TGTTCCTTCAGAAAGCCAACT	0.418																																																	0													131.0	128.0	129.0					15																	42743781		2203	4299	6502	SO:0001583	missense	0			AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.620C>T	15.37:g.42743781G>A	ENSP00000263805:p.Ser207Phe		B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S207F	ENST00000263805.4	37	c.620	CCDS32208.1	15	.	.	.	.	.	.	.	.	.	.	G	18.12	3.552649	0.65425	.	.	ENSG00000103994	ENST00000263805	T	0.57907	0.37	5.85	4.93	0.64822	.	0.371676	0.27544	N	0.018886	T	0.48677	0.1513	L	0.47716	1.5	0.80722	D	1	B	0.19200	0.034	B	0.16722	0.016	T	0.48068	-0.9067	10	0.87932	D	0	-4.7363	14.9014	0.70681	0.069:0.0:0.931:0.0	.	207	Q9H2Y7	ZF106_HUMAN	F	207	ENSP00000263805:S207F	ENSP00000263805:S207F	S	-	2	0	ZFP106	40531073	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.250000	0.58772	1.471000	0.48121	0.645000	0.84053	TCT	ZNF106	-	NULL	ENSG00000103994		0.418	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF106	HGNC	protein_coding	OTTHUMT00000422587.1	-	0.00	50	0	G	NM_022473		42743781	-1	tier1	-	no_errors	ENST00000263805	ensembl	human	known	74_37	missense	43.75	18	14	SNP	1.000	A
ZNF114	163071	genome.wustl.edu	37	19	48789139	48789139	+	Silent	SNP	A	A	G			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr19:48789139A>G	ENST00000595607.1	+	6	752	c.258A>G	c.(256-258)ttA>ttG	p.L86L	ZNF114_ENST00000597695.1_Silent_p.L52L|ZNF114_ENST00000315849.1_Silent_p.L86L|ZNF114_ENST00000600687.1_Silent_p.L86L			Q8NC26	ZN114_HUMAN	zinc finger protein 114	86					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		ACTCCACATTAAGAGAAGACT	0.502																																																	0													77.0	69.0	71.0					19																	48789139		2203	4300	6503	SO:0001819	synonymous_variant	0			BC014935	CCDS12713.1, CCDS74412.1	19q13.32	2013-01-08			ENSG00000178150	ENSG00000178150		"""Zinc fingers, C2H2-type"", ""-"""	12894	protein-coding gene	gene with protein product		603996					Standard	XM_005258580		Approved	MGC17986	uc002pim.1	Q8NC26		ENST00000595607.1:c.258A>G	19.37:g.48789139A>G			A8K6B0|Q08AQ6	Silent	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L86	ENST00000595607.1	37	c.258	CCDS12713.1	19																																																																																			ZNF114	-	NULL	ENSG00000178150		0.502	ZNF114-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF114	HGNC	protein_coding	OTTHUMT00000465601.1		0.00	53	0	A	NM_153608		48789139	+1			no_errors	ENST00000315849	ensembl	human	known	74_37	silent	25.00	30	10	SNP	0.000	G
ZNF114	163071	genome.wustl.edu	37	19	48789146	48789146	+	Missense_Mutation	SNP	G	G	A			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr19:48789146G>A	ENST00000595607.1	+	6	759	c.265G>A	c.(265-267)Gac>Aac	p.D89N	ZNF114_ENST00000597695.1_Missense_Mutation_p.D55N|ZNF114_ENST00000315849.1_Missense_Mutation_p.D89N|ZNF114_ENST00000600687.1_Missense_Mutation_p.D89N			Q8NC26	ZN114_HUMAN	zinc finger protein 114	89					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		ATTAAGAGAAGACTGGAGATG	0.498																																																	0													77.0	69.0	71.0					19																	48789146		2203	4300	6503	SO:0001583	missense	0			BC014935	CCDS12713.1, CCDS74412.1	19q13.32	2013-01-08			ENSG00000178150	ENSG00000178150		"""Zinc fingers, C2H2-type"", ""-"""	12894	protein-coding gene	gene with protein product		603996					Standard	XM_005258580		Approved	MGC17986	uc002pim.1	Q8NC26		ENST00000595607.1:c.265G>A	19.37:g.48789146G>A	ENSP00000469998:p.Asp89Asn		A8K6B0|Q08AQ6	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D89N	ENST00000595607.1	37	c.265	CCDS12713.1	19	.	.	.	.	.	.	.	.	.	.	G	11.48	1.650652	0.29336	.	.	ENSG00000178150	ENST00000315849	T	0.05081	3.5	1.82	-2.01	0.07410	.	.	.	.	.	T	0.02230	0.0069	N	0.08118	0	0.09310	N	1	B	0.30281	0.275	B	0.23419	0.046	T	0.46679	-0.9174	9	0.13853	T	0.58	.	3.3026	0.06988	0.4513:0.2185:0.3301:0.0	.	89	Q8NC26	ZN114_HUMAN	N	89	ENSP00000318898:D89N	ENSP00000318898:D89N	D	+	1	0	ZNF114	53480958	0.889000	0.30405	0.001000	0.08648	0.102000	0.19082	0.506000	0.22658	-0.424000	0.07382	0.411000	0.27672	GAC	ZNF114	-	NULL	ENSG00000178150		0.498	ZNF114-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF114	HGNC	protein_coding	OTTHUMT00000465601.1		0.00	49	0	G	NM_153608		48789146	+1			no_errors	ENST00000315849	ensembl	human	known	74_37	missense	25.00	30	10	SNP	0.008	A
ZNF114	163071	genome.wustl.edu	37	19	48789149	48789150	+	Missense_Mutation	DNP	TG	TG	CC			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	T|G	T|G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr19:48789149_48789150TG>CC	ENST00000595607.1	+	6	762_763	c.268_269TG>CC	c.(268-270)TGg>CCg	p.W90P	ZNF114_ENST00000597695.1_Missense_Mutation_p.W56P|ZNF114_ENST00000315849.1_Missense_Mutation_p.W90P|ZNF114_ENST00000600687.1_Missense_Mutation_p.W90P			Q8NC26	ZN114_HUMAN	zinc finger protein 114	90					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		AAGAGAAGACTGGAGATGCCCC	0.485																																																	0																																										SO:0001583	missense	0			BC014935	CCDS12713.1, CCDS74412.1	19q13.32	2013-01-08			ENSG00000178150	ENSG00000178150		"""Zinc fingers, C2H2-type"", ""-"""	12894	protein-coding gene	gene with protein product		603996					Standard	XM_005258580		Approved	MGC17986	uc002pim.1	Q8NC26		Exception_encountered	19.37:g.48789149_48789150delinsCC	ENSP00000469998:p.Trp90Pro		A8K6B0|Q08AQ6	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.W90R|p.W90S	ENST00000595607.1	37	c.268|c.269	CCDS12713.1	19																																																																																			ZNF114	-	NULL	ENSG00000178150		0.485	ZNF114-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF114	HGNC	protein_coding	OTTHUMT00000465601.1		0.00	49|48	0	T|G	NM_153608		48789149|48789150	+1			no_errors	ENST00000315849	ensembl	human	known	74_37	missense	19.44	29	7	SNP	0.011|0.007	C
ZNF790	388536	genome.wustl.edu	37	19	37310184	37310184	+	Silent	SNP	A	A	G	rs556524944	byFrequency	TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr19:37310184A>G	ENST00000356725.4	-	5	1182	c.1062T>C	c.(1060-1062)acT>acC	p.T354T	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	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)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TCTGATGCTGAGTTAGGTGTG	0.388																																																	0													73.0	70.0	71.0					19																	37310184		2203	4300	6503	SO:0001819	synonymous_variant	0			BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.1062T>C	19.37:g.37310184A>G				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.T354	ENST00000356725.4	37	c.1062	CCDS12496.1	19																																																																																			ZNF790	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197863		0.388	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF790	HGNC	protein_coding	OTTHUMT00000385341.2	-	0.00	63	0	A	NM_206894		37310184	-1	tier1	-	no_errors	ENST00000356725	ensembl	human	known	74_37	silent	35.53	49	27	SNP	0.000	G
ZNF607	84775	genome.wustl.edu	37	19	38189351	38189351	+	Missense_Mutation	SNP	A	A	G			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr19:38189351A>G	ENST00000355202.4	-	5	2276	c.1681T>C	c.(1681-1683)Tac>Cac	p.Y561H	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.Y560H	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	561					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)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TTACATTCGTAGGGTTTCTCA	0.418																																																	0													43.0	41.0	42.0					19																	38189351		2203	4300	6503	SO:0001583	missense	0			AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.1681T>C	19.37:g.38189351A>G	ENSP00000347338:p.Tyr561His		F5H141|Q6ZMN2|Q6ZMN4|Q96C40	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.Y561H	ENST00000355202.4	37	c.1681	CCDS33006.1	19	.	.	.	.	.	.	.	.	.	.	A	16.76	3.212061	0.58452	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.21734	1.99;1.99	2.08	2.08	0.27032	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27798	0.0684	N	0.26130	0.795	0.09310	N	1	B;D	0.59357	0.378;0.985	B;D	0.63381	0.199;0.914	T	0.07947	-1.0746	9	0.72032	D	0.01	.	8.8823	0.35382	1.0:0.0:0.0:0.0	.	561;560	Q96SK3;F5H141	ZN607_HUMAN;.	H	561;560	ENSP00000347338:Y561H;ENSP00000438015:Y560H	ENSP00000347338:Y561H	Y	-	1	0	ZNF607	42881191	0.005000	0.15991	0.856000	0.33681	0.744000	0.42396	1.995000	0.40767	0.953000	0.37825	0.459000	0.35465	TAC	ZNF607	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198182		0.418	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF607	HGNC	protein_coding	OTTHUMT00000459502.2	-	0.00	78	0	A	NM_032689		38189351	-1	tier1	-	no_errors	ENST00000355202	ensembl	human	known	74_37	missense	32.04	70	33	SNP	0.122	G
ZNF320	162967	genome.wustl.edu	37	19	53385026	53385026	+	Missense_Mutation	SNP	T	T	G			TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr19:53385026T>G	ENST00000595635.1	-	8	854	c.353A>C	c.(352-354)aAg>aCg	p.K118T	ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.K118T	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	118					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)			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		ACTAGTCAACTTTTTTATTTC	0.378																																																	0													143.0	140.0	141.0					19																	53385026		2203	4300	6503	SO:0001583	missense	0			AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"""Zinc fingers, C2H2-type"", ""-"""	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.353A>C	19.37:g.53385026T>G	ENSP00000473091:p.Lys118Thr		Q8NDR6	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.K118T	ENST00000595635.1	37	c.353	CCDS33095.1	19	.	.	.	.	.	.	.	.	.	.	-	5.310	0.242634	0.10077	.	.	ENSG00000182986	ENST00000391781	T	0.07567	3.18	1.18	-1.49	0.08718	.	.	.	.	.	T	0.06826	0.0174	L	0.51422	1.61	0.09310	N	1	B	0.16166	0.016	B	0.06405	0.002	T	0.39702	-0.9601	9	0.51188	T	0.08	.	1.404	0.02276	0.3261:0.2475:0.0:0.4264	.	118	A2RRD8	ZN320_HUMAN	T	118	ENSP00000375660:K118T	ENSP00000375660:K118T	K	-	2	0	ZNF320	58076838	0.000000	0.05858	0.007000	0.13788	0.090000	0.18270	-1.941000	0.01542	-0.564000	0.06070	0.155000	0.16302	AAG	ZNF320	-	NULL	ENSG00000182986		0.378	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF320	HGNC	protein_coding	OTTHUMT00000463771.1	-	0.00	101	0	T	NM_207333		53385026	-1	tier1	-	no_errors	ENST00000391781	ensembl	human	known	74_37	missense	38.02	75	46	SNP	0.017	G
ZP2	7783	genome.wustl.edu	37	16	21212848	21212848	+	Silent	SNP	G	G	A	rs116035262	byFrequency	TCGA-X8-AAAR-01A-11D-A403-09	TCGA-X8-AAAR-10A-01D-A403-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f1f10810-43c1-4ab2-a33a-89e4eaee28fa	a5eaf352-fd7f-449f-b7de-60660a280864	g.chr16:21212848G>A	ENST00000574002.1	-	15	2018	c.1536C>T	c.(1534-1536)aaC>aaT	p.N512N	ZP2_ENST00000574091.1_Silent_p.N503N|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Silent_p.N512N			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	512	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)	p.N512N(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		GAGGGTACTCGTTTTCCCCAT	0.428													G|||	11	0.00219649	0.0076	0.0	5008	,	,		21289	0.001		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	prostate(1)						G		19,4381	25.3+/-52.1	0,19,2181	190.0	175.0	180.0		1536	-6.3	0.0	16	dbSNP_132	180	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZP2	NM_003460.1		0,20,6480	AA,AG,GG		0.0116,0.4318,0.1538		512/746	21212848	20,12980	2200	4300	6500	SO:0001819	synonymous_variant	0			M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"""Zona pellucida glycoproteins"""	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.1536C>T	16.37:g.21212848G>A			B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Silent	SNP	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.N512	ENST00000574002.1	37	c.1536	CCDS10596.1	16																																																																																			ZP2	-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom	ENSG00000103310		0.428	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZP2	HGNC	protein_coding	OTTHUMT00000207365.2		0.00	41	0	G			21212848	-1			no_errors	ENST00000219593	ensembl	human	known	74_37	silent	6.45	29	2	SNP	0.012	A
