#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ARHGEF40	55701	genome.wustl.edu	37	14	21543297	21543297	+	Nonsense_Mutation	SNP	G	G	T	rs549880680	byFrequency	TCGA-B6-A401-01A-11D-A23C-09	TCGA-B6-A401-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c4c02c3-179f-4833-850a-131a002cf99a	43e7f97e-c87c-4f11-94fd-98b925fc45bc	g.chr14:21543297G>T	ENST00000298694.4	+	3	1535	c.1408G>T	c.(1408-1410)Gga>Tga	p.G470*	ARHGEF40_ENST00000298693.3_Nonsense_Mutation_p.G470*			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	470						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						AGAGGGGGCCGGAGAGAGAGA	0.602																																						dbGAP											0													30.0	36.0	33.0					14																	21543297		2201	4295	6496	-	-	-	SO:0001587	stop_gained	0				CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.1408G>T	14.37:g.21543297G>T	ENSP00000298694:p.Gly470*		A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Nonsense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.G470*	ENST00000298694.4	37	c.1408	CCDS32041.1	14	.	.	.	.	.	.	.	.	.	.	g	11.57	1.678068	0.29783	.	.	ENSG00000165801	ENST00000298694;ENST00000555038;ENST00000298693	.	.	.	5.12	-9.41	0.00613	.	1.718550	0.03114	N	0.162914	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	10.1253	0.42646	0.1444:0.5019:0.3536:0.0	.	.	.	.	X	470	.	ENSP00000298693:G470X	G	+	1	0	ARHGEF40	20613137	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.152000	0.03172	-1.386000	0.02098	-1.318000	0.01297	GGA	ARHGEF40	-	NULL	ENSG00000165801		0.602	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF40	HGNC	protein_coding	OTTHUMT00000413122.1	32	0.00	0	G			21543297	21543297	+1	no_errors	ENST00000298694	ensembl	human	known	69_37n	nonsense	21	18.52	5	SNP	0.000	T
C1orf123	54987	genome.wustl.edu	37	1	53685853	53685853	+	Intron	SNP	C	C	A			TCGA-B6-A401-01A-11D-A23C-09	TCGA-B6-A401-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c4c02c3-179f-4833-850a-131a002cf99a	43e7f97e-c87c-4f11-94fd-98b925fc45bc	g.chr1:53685853C>A	ENST00000294360.4	-	2	132				C1orf123_ENST00000470385.1_Intron|RP5-1024G6.7_ENST00000569869.1_RNA	NM_017887.1	NP_060357.1	Q9NWV4	CA123_HUMAN	chromosome 1 open reading frame 123							extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|pancreas(2)|skin(1)	6						AATATTTTCTCATACTGCCGG	0.502																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC010908	CCDS576.1	1p32.3	2011-02-18			ENSG00000162384	ENSG00000162384			26059	protein-coding gene	gene with protein product						12477932	Standard	NM_017887		Approved	FLJ20580	uc001cvd.3	Q9NWV4	OTTHUMG00000008940	ENST00000294360.4:c.90+79G>T	1.37:g.53685853C>A				RNA	SNP	-	NULL	ENST00000294360.4	37	NULL	CCDS576.1	1																																																																																			C1orf123	-	-	ENSG00000162384		0.502	C1orf123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf123	HGNC	protein_coding	OTTHUMT00000024751.1	121	0.00	0	C	NM_017887		53685853	53685853	-1	no_errors	ENST00000474227	ensembl	human	known	69_37n	rna	83	14.43	14	SNP	0.006	A
CDH15	1013	genome.wustl.edu	37	16	89256807	89256807	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A401-01A-11D-A23C-09	TCGA-B6-A401-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c4c02c3-179f-4833-850a-131a002cf99a	43e7f97e-c87c-4f11-94fd-98b925fc45bc	g.chr16:89256807C>T	ENST00000289746.2	+	8	1200	c.1135C>T	c.(1135-1137)Cca>Tca	p.P379S		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	379	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CCAGGAGAACCCACTTCGGAC	0.692																																						dbGAP											0													35.0	34.0	34.0					16																	89256807		2196	4298	6494	-	-	-	SO:0001583	missense	0			D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"""Cadherins / Major cadherins"""	1754	protein-coding gene	gene with protein product		114019	"""cadherin 15, M-cadherin (myotubule)"""	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.1135C>T	16.37:g.89256807C>T	ENSP00000289746:p.Pro379Ser			Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P379S	ENST00000289746.2	37	c.1135	CCDS10976.1	16	.	.	.	.	.	.	.	.	.	.	C	13.64	2.297577	0.40694	.	.	ENSG00000129910	ENST00000289746	T	0.60548	0.18	4.37	4.37	0.52481	Cadherin (2);Cadherin-like (1);	0.000000	0.49305	U	0.000143	T	0.41534	0.1163	N	0.25286	0.73	0.80722	D	1	B	0.14805	0.011	B	0.16289	0.015	T	0.28650	-1.0037	10	0.09338	T	0.73	.	15.714	0.77652	0.0:1.0:0.0:0.0	.	379	P55291	CAD15_HUMAN	S	379	ENSP00000289746:P379S	ENSP00000289746:P379S	P	+	1	0	CDH15	87784308	1.000000	0.71417	0.996000	0.52242	0.486000	0.33341	5.649000	0.67936	1.991000	0.58162	0.555000	0.69702	CCA	CDH15	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000129910		0.692	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH15	HGNC	protein_coding	OTTHUMT00000269920.1	93	0.00	0	C	NM_004933		89256807	89256807	+1	no_errors	ENST00000289746	ensembl	human	known	69_37n	missense	71	20.00	18	SNP	1.000	T
CEP57	9702	genome.wustl.edu	37	11	95564204	95564204	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A401-01A-11D-A23C-09	TCGA-B6-A401-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c4c02c3-179f-4833-850a-131a002cf99a	43e7f97e-c87c-4f11-94fd-98b925fc45bc	g.chr11:95564204G>T	ENST00000325542.5	+	11	1525	c.1287G>T	c.(1285-1287)aaG>aaT	p.K429N	CEP57_ENST00000325486.5_Missense_Mutation_p.K403N|CEP57_ENST00000541150.1_Missense_Mutation_p.K420N|CEP57_ENST00000537677.1_Missense_Mutation_p.K402N	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	429	Mediates interaction with microtubules. {ECO:0000250}.				fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|protein homooligomerization (GO:0051260)|protein import into nucleus, translocation (GO:0000060)|spermatid development (GO:0007286)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGAAACAGAAGTTAGAGAAGC	0.363									Mosaic Variegated Aneuploidy Syndrome																													dbGAP											0													48.0	52.0	51.0					11																	95564204		2201	4297	6498	-	-	-	SO:0001583	missense	0	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	D42054	CCDS8304.1, CCDS58166.1, CCDS58167.1	11q21	2014-09-17			ENSG00000166037	ENSG00000166037			30794	protein-coding gene	gene with protein product		607951				7788527	Standard	NM_014679		Approved	Translokin, TSP57, KIAA0092	uc001pfp.2	Q86XR8	OTTHUMG00000167740	ENST00000325542.5:c.1287G>T	11.37:g.95564204G>T	ENSP00000317902:p.Lys429Asn		A0PJH1|A8K5D0|B4DDP5|F5H5F7|Q14704|Q5JB46|Q8IXP0|Q9BVF9	Missense_Mutation	SNP	pfam_Cep57_MT-bd_dom	p.K429N	ENST00000325542.5	37	c.1287	CCDS8304.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.34|11.34	1.608939|1.608939	0.28623|0.28623	.|.	.|.	ENSG00000166037|ENSG00000166037	ENST00000537677;ENST00000325542;ENST00000325486;ENST00000541150|ENST00000535224	T;T;T;T|.	0.34859|.	1.35;1.34;1.36;1.34|.	5.16|5.16	3.24|3.24	0.37175|0.37175	.|.	0.137741|.	0.49916|.	N|.	0.000133|.	T|T	0.33614|0.33614	0.0869|0.0869	L|L	0.29908|0.29908	0.895|0.895	0.31028|0.31028	N|N	0.717745|0.717745	B;B;B|.	0.13145|.	0.006;0.007;0.001|.	B;B;B|.	0.14023|.	0.009;0.01;0.003|.	T|T	0.32587|0.32587	-0.9901|-0.9901	10|5	0.87932|.	D|.	0|.	-22.9556|-22.9556	8.8648|8.8648	0.35280|0.35280	0.082:0.1553:0.7627:0.0|0.082:0.1553:0.7627:0.0	.|.	420;403;429|.	F5H5F7;Q86XR8-2;Q86XR8|.	.;.;CEP57_HUMAN|.	N|F	402;429;403;420|219	ENSP00000441392:K402N;ENSP00000317902:K429N;ENSP00000317487:K403N;ENSP00000443436:K420N|.	ENSP00000317487:K403N|.	K|V	+|+	3|1	2|0	CEP57|CEP57	95203852|95203852	0.993000|0.993000	0.37304|0.37304	0.713000|0.713000	0.30519|0.30519	0.936000|0.936000	0.57629|0.57629	2.424000|2.424000	0.44714|0.44714	0.799000|0.799000	0.34018|0.34018	0.557000|0.557000	0.71058|0.71058	AAG|GTT	CEP57	-	NULL	ENSG00000166037		0.363	CEP57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP57	HGNC	protein_coding	OTTHUMT00000395983.1	33	0.00	0	G	NM_014679		95564204	95564204	+1	no_errors	ENST00000325542	ensembl	human	known	69_37n	missense	35	10.26	4	SNP	0.919	T
CIC	23152	genome.wustl.edu	37	19	42793200	42793200	+	Silent	SNP	C	C	T			TCGA-B6-A401-01A-11D-A23C-09	TCGA-B6-A401-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c4c02c3-179f-4833-850a-131a002cf99a	43e7f97e-c87c-4f11-94fd-98b925fc45bc	g.chr19:42793200C>T	ENST00000575354.2	+	7	1132	c.1092C>T	c.(1090-1092)gaC>gaT	p.D364D	CIC_ENST00000572681.2_Silent_p.D1273D|CIC_ENST00000160740.3_Silent_p.D364D	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	364					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ACAGCCTGGACGGCGGAGAAG	0.672			"""Mis, F, S"""		oligodendroglioma																																	dbGAP		Rec	yes		19	19q13.2	23152	capicua homolog		O	0													47.0	52.0	50.0					19																	42793200		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.1092C>T	19.37:g.42793200C>T			Q7LGI1|Q9UEG5|Q9Y6T1	Silent	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.D364	ENST00000575354.2	37	c.1092	CCDS12601.1	19																																																																																			CIC	-	NULL	ENSG00000079432		0.672	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIC	HGNC	protein_coding	OTTHUMT00000438532.2	19	0.00	0	C			42793200	42793200	+1	no_errors	ENST00000160740	ensembl	human	known	69_37n	silent	22	38.89	14	SNP	0.423	T
CLK1	1195	genome.wustl.edu	37	2	201718659	201718659	+	Silent	SNP	G	G	T			TCGA-B6-A401-01A-11D-A23C-09	TCGA-B6-A401-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c4c02c3-179f-4833-850a-131a002cf99a	43e7f97e-c87c-4f11-94fd-98b925fc45bc	g.chr2:201718659G>T	ENST00000321356.4	-	12	1413	c.1278C>A	c.(1276-1278)ggC>ggA	p.G426G	CLK1_ENST00000409769.2_Silent_p.G249G|CLK1_ENST00000434813.2_Silent_p.G468G	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	426	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						AAACATATCTGCCGGCAGAAC	0.373																																						dbGAP											0													121.0	116.0	118.0					2																	201718659		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"""CDC-like kinases"""	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.1278C>A	2.37:g.201718659G>T			B4DFW7|Q0P694|Q8N5V8	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.G426	ENST00000321356.4	37	c.1278	CCDS2331.1	2																																																																																			CLK1	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000013441		0.373	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLK1	HGNC	protein_coding	OTTHUMT00000256192.2	40	0.00	0	G			201718659	201718659	-1	no_errors	ENST00000321356	ensembl	human	known	69_37n	silent	40	11.11	5	SNP	0.826	T
DCAF5	8816	genome.wustl.edu	37	14	69521489	69521489	+	Silent	SNP	G	G	A			TCGA-B6-A401-01A-11D-A23C-09	TCGA-B6-A401-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c4c02c3-179f-4833-850a-131a002cf99a	43e7f97e-c87c-4f11-94fd-98b925fc45bc	g.chr14:69521489G>A	ENST00000341516.5	-	9	2061	c.1914C>T	c.(1912-1914)tcC>tcT	p.S638S	DCAF5_ENST00000556847.1_Silent_p.S556S|DCAF5_ENST00000554215.1_Silent_p.S556S|DCAF5_ENST00000553293.1_5'Flank|DCAF5_ENST00000557386.1_Silent_p.S637S	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	638					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						TCTCTAGCGTGGAAGTGCTCC	0.478																																						dbGAP											0													82.0	84.0	83.0					14																	69521489		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20224	protein-coding gene	gene with protein product		603812	"""WD repeat domain 22"""	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.1914C>T	14.37:g.69521489G>A			B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S638	ENST00000341516.5	37	c.1914	CCDS32106.1	14																																																																																			DCAF5	-	NULL	ENSG00000139990		0.478	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCAF5	HGNC	protein_coding	OTTHUMT00000414806.2	54	0.00	0	G	NM_003861		69521489	69521489	-1	no_errors	ENST00000341516	ensembl	human	known	69_37n	silent	41	14.58	7	SNP	0.411	A
FAM21A	387680	genome.wustl.edu	37	10	51853633	51853633	+	Missense_Mutation	SNP	C	C	T	rs199520696	byFrequency	TCGA-B6-A401-01A-11D-A23C-09	TCGA-B6-A401-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c4c02c3-179f-4833-850a-131a002cf99a	43e7f97e-c87c-4f11-94fd-98b925fc45bc	g.chr10:51853633C>T	ENST00000282633.5	+	13	1181	c.1136C>T	c.(1135-1137)aCg>aTg	p.T379M	FAM21A_ENST00000314664.7_Missense_Mutation_p.T379M|FAM21A_ENST00000399339.2_Missense_Mutation_p.T291M|FAM21A_ENST00000351071.6_Missense_Mutation_p.T379M	NM_001005751.1	NP_001005751.1	Q641Q2	FA21A_HUMAN	family with sequence similarity 21, member A	379					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|WASH complex (GO:0071203)				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	15						GACCTCTTCACGGAAGCCCCC	0.488																																						dbGAP											0													1.0	1.0	1.0					10																	51853633		353	936	1289	-	-	-	SO:0001583	missense	0			BC082258	CCDS41527.1	10q11.23	2014-06-19			ENSG00000099290	ENSG00000099290			23416	protein-coding gene	gene with protein product			"""family with sequence similarity 21, member B"""	FAM21B			Standard	XM_005269805		Approved	bA56A21.1, bA98I6.1, FLJ10824	uc001jjb.3	Q641Q2	OTTHUMG00000018225	ENST00000282633.5:c.1136C>T	10.37:g.51853633C>T	ENSP00000282633:p.Thr379Met		A2A3S2|A2A3U6|Q6DHY0	Missense_Mutation	SNP	NULL	p.T379M	ENST00000282633.5	37	c.1136	CCDS41527.1	10	.	.	.	.	.	.	.	.	.	.	C	6.414	0.444490	0.12164	.	.	ENSG00000099290	ENST00000351071;ENST00000314664;ENST00000434114;ENST00000282633;ENST00000399339	.	.	.	3.88	-5.37	0.02681	.	0.781535	0.12699	N	0.446536	T	0.14527	0.0351	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B	0.29253	0.05;0.02;0.005;0.02;0.239	B;B;B;B;B	0.16722	0.013;0.013;0.003;0.013;0.016	T	0.05767	-1.0865	9	0.42905	T	0.14	2.3495	2.2948	0.04147	0.3714:0.2592:0.2739:0.0955	.	379;379;291;379;273	E7ESD2;Q641Q2-2;F8W7U3;Q641Q2;Q5T1D7	.;.;.;FA21A_HUMAN;.	M	379;379;273;379;291	.	ENSP00000282633:T379M	T	+	2	0	FAM21A	51523639	0.024000	0.19004	0.096000	0.21009	0.033000	0.12548	-0.884000	0.04166	-1.796000	0.01253	-1.109000	0.02080	ACG	FAM21A	-	NULL	ENSG00000099290		0.488	FAM21A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM21A	HGNC	protein_coding	OTTHUMT00000276917.2	16	0.00	0	C	NM_001005751		51853633	51853633	+1	no_errors	ENST00000282633	ensembl	human	known	69_37n	missense	11	31.25	5	SNP	0.370	T
FMR1	2332	genome.wustl.edu	37	X	147026497	147026497	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A401-01A-11D-A23C-09	TCGA-B6-A401-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c4c02c3-179f-4833-850a-131a002cf99a	43e7f97e-c87c-4f11-94fd-98b925fc45bc	g.chrX:147026497G>A	ENST00000370475.4	+	15	1708	c.1580G>A	c.(1579-1581)cGc>cAc	p.R527H	FMR1_ENST00000440235.2_Missense_Mutation_p.R174H|FMR1_ENST00000439526.2_Missense_Mutation_p.R504H|FMR1_ENST00000370470.1_Missense_Mutation_p.R502H|FMR1_ENST00000370471.3_Missense_Mutation_p.A437T|FMR1_ENST00000370477.1_Missense_Mutation_p.R494H|FMR1-IT1_ENST00000441414.1_RNA|FMR1_ENST00000218200.8_Missense_Mutation_p.R506H	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	527	Interaction with RANBP9.				central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R527H(1)		NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					AGCTTCCTGCGCAGAGGAGAC	0.512									Fragile X syndrome																													dbGAP											1	Substitution - Missense(1)	large_intestine(1)											63.0	62.0	62.0					X																	147026497		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"""premature ovarian failure 1"""	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.1580G>A	X.37:g.147026497G>A	ENSP00000359506:p.Arg527His		A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP	pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet,smart_KH_dom,pfscan_KH_dom_type_1	p.R527H	ENST00000370475.4	37	c.1580	CCDS14682.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.69|11.69	1.713899|1.713899	0.30413|0.30413	.|.	.|.	ENSG00000102081|ENSG00000102081	ENST00000370471|ENST00000218200;ENST00000370477;ENST00000370475;ENST00000439526;ENST00000370470;ENST00000440235	T|T;T;T;T;T;T	0.57436|0.35789	0.4|1.29;1.29;1.29;1.29;1.29;1.29	5.96|5.96	4.2|4.2	0.49525|0.49525	.|.	.|0.050584	.|0.85682	.|D	.|0.000000	T|T	0.46386|0.46386	0.1390|0.1390	L|L	0.34521|0.34521	1.04|1.04	0.43902|0.43902	D|D	0.996531|0.996531	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;0.997	.|D;D;D;D;P	.|0.91635	.|0.996;0.999;0.983;0.997;0.823	T|T	0.29058|0.29058	-1.0024|-1.0024	7|10	0.38643|0.44086	T|T	0.18|0.13	-36.4109|-36.4109	11.074|11.074	0.48021|0.48021	0.1521:0.0:0.8479:0.0|0.1521:0.0:0.8479:0.0	.|.	.|174;527;422;481;504	.|F8W871;Q06787;Q59GC1;Q06787-8;G3V0J0	.|.;FMR1_HUMAN;.;.;.	T|H	437|506;494;527;504;502;174	ENSP00000359502:A437T|ENSP00000218200:R506H;ENSP00000359508:R494H;ENSP00000359506:R527H;ENSP00000395923:R504H;ENSP00000359501:R502H;ENSP00000413764:R174H	ENSP00000359502:A437T|ENSP00000218200:R506H	A|R	+|+	1|2	0|0	FMR1|FMR1	146834189|146834189	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.082000|0.082000	0.17680|0.17680	5.543000|5.543000	0.67225|0.67225	0.651000|0.651000	0.30788|0.30788	-0.199000|-0.199000	0.12753|0.12753	GCA|CGC	FMR1	-	pfam_Frag_X_MRP_fam	ENSG00000102081		0.512	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMR1	HGNC	protein_coding	OTTHUMT00000058655.1	32	0.00	0	G	NM_002024		147026497	147026497	+1	no_errors	ENST00000370475	ensembl	human	known	69_37n	missense	23	28.12	9	SNP	1.000	A
GCDH	2639	genome.wustl.edu	37	19	13010643	13010643	+	3'UTR	SNP	G	G	T	rs9384	byFrequency	TCGA-B6-A401-01A-11D-A23C-09	TCGA-B6-A401-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c4c02c3-179f-4833-850a-131a002cf99a	43e7f97e-c87c-4f11-94fd-98b925fc45bc	g.chr19:13010643G>T	ENST00000222214.5	+	0	1816				GCDH_ENST00000591470.1_3'UTR|SYCE2_ENST00000293695.7_Intron|GCDH_ENST00000422947.2_3'UTR|GCDH_ENST00000588242.2_3'UTR|GCDH_ENST00000457854.1_3'UTR			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase						cellular nitrogen compound metabolic process (GO:0034641)|fatty acid oxidation (GO:0019395)|fatty-acyl-CoA biosynthetic process (GO:0046949)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan metabolic process (GO:0006568)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|glutaryl-CoA dehydrogenase activity (GO:0004361)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19					Flavin adenine dinucleotide(DB03147)	AGAGTGACATGGAAGCAACTC	0.527													T|||	1392	0.277955	0.261	0.4424	5008	,	,		14969	0.1518		0.3241	False		,,,				2504	0.2669				GBM(123;875 1636 7726 16444 26754)	dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF012342	CCDS12286.1	19p13.2	2010-04-30	2010-04-30			ENSG00000105607	1.3.99.7		4189	protein-coding gene	gene with protein product		608801	"""glutaryl-Coenzyme A dehydrogenase"""			1438360, 8088809	Standard	NM_000159		Approved	ACAD5	uc002mvq.4	Q92947		ENST00000222214.5:c.*288G>T	19.37:g.13010643G>T			A8K2Z2|O14719	RNA	SNP	-	NULL	ENST00000222214.5	37	NULL	CCDS12286.1	19																																																																																			GCDH	-	-	ENSG00000105607		0.527	GCDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCDH	HGNC	protein_coding	OTTHUMT00000451897.1	30	0.00	0	G			13010643	13010643	+1	no_errors	ENST00000588242	ensembl	human	known	69_37n	rna	20	13.04	3	SNP	0.000	T
GUSBP1	728411	genome.wustl.edu	37	5	21495250	21495250	+	RNA	SNP	G	G	C			TCGA-B6-A401-01A-11D-A23C-09	TCGA-B6-A401-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c4c02c3-179f-4833-850a-131a002cf99a	43e7f97e-c87c-4f11-94fd-98b925fc45bc	g.chr5:21495250G>C	ENST00000607545.1	+	0	179					NR_027026.1		Q15486	GUSP1_HUMAN	glucuronidase, beta pseudogene 1						carbohydrate metabolic process (GO:0005975)|nervous system development (GO:0007399)|skeletal system development (GO:0001501)		hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)										CTCCCAGCCTGTGACCTTTGT	0.587																																						dbGAP											0																																										-	-	-			0			BC064850, X75940		5p14.3	2012-10-04			ENSG00000183666	ENSG00000183666			13670	pseudogene	pseudogene						8565635	Standard	NR_027026		Approved		uc010iub.3	Q15486	OTTHUMG00000162474		5.37:g.21495250G>C			A6NLY8|A8K1B7|Q969T8|Q9BUH2	RNA	SNP	-	NULL	ENST00000607545.1	37	NULL		5																																																																																			RP11-823P9.1	-	-	ENSG00000183666		0.587	GUSBP1-006	KNOWN	basic	processed_transcript	GUSBP1	Clone_based_vega_gene	pseudogene	OTTHUMT00000470546.1	37	0.00	0	G	NG_008324		21495250	21495250	+1	no_errors	ENST00000508260	ensembl	human	known	69_37n	rna	38	20.83	10	SNP	1.000	C
HTATSF1	27336	genome.wustl.edu	37	X	135586549	135586549	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A401-01A-11D-A23C-09	TCGA-B6-A401-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c4c02c3-179f-4833-850a-131a002cf99a	43e7f97e-c87c-4f11-94fd-98b925fc45bc	g.chrX:135586549G>A	ENST00000218364.4	+	6	935	c.761G>A	c.(760-762)cGa>cAa	p.R254Q	HTATSF1_ENST00000535601.1_Missense_Mutation_p.R254Q	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	254					regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					CCTGAGAGGCGAGCCGGACCA	0.453																																						dbGAP											0													115.0	95.0	102.0					X																	135586549		2203	4300	6503	-	-	-	SO:0001583	missense	0			U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.761G>A	X.37:g.135586549G>A	ENSP00000218364:p.Arg254Gln		D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R254Q	ENST00000218364.4	37	c.761	CCDS14657.1	X	.	.	.	.	.	.	.	.	.	.	G	14.74	2.624479	0.46840	.	.	ENSG00000102241	ENST00000535601;ENST00000218364;ENST00000415377	T;T	0.22539	1.95;1.95	5.77	1.32	0.21799	.	0.426103	0.28538	N	0.014985	T	0.06188	0.0160	N	0.03608	-0.345	0.25441	N	0.988097	B	0.29716	0.255	B	0.15870	0.014	T	0.30327	-0.9982	10	0.25106	T	0.35	-4.4902	4.3091	0.10962	0.5915:0.1894:0.2192:0.0	.	254	O43719	HTSF1_HUMAN	Q	254	ENSP00000442699:R254Q;ENSP00000218364:R254Q	ENSP00000218364:R254Q	R	+	2	0	HTATSF1	135414215	1.000000	0.71417	0.778000	0.31720	0.965000	0.64279	2.260000	0.43267	0.157000	0.19338	0.538000	0.68166	CGA	HTATSF1	-	NULL	ENSG00000102241		0.453	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTATSF1	HGNC	protein_coding	OTTHUMT00000058497.1	45	0.00	0	G	NM_014500		135586549	135586549	+1	no_errors	ENST00000218364	ensembl	human	known	69_37n	missense	51	16.39	10	SNP	1.000	A
IFNA21	3452	genome.wustl.edu	37	9	21166406	21166406	+	Missense_Mutation	SNP	T	T	G			TCGA-B6-A401-01A-11D-A23C-09	TCGA-B6-A401-10A-01D-A23C-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c4c02c3-179f-4833-850a-131a002cf99a	43e7f97e-c87c-4f11-94fd-98b925fc45bc	g.chr9:21166406T>G	ENST00000380225.1	-	1	253	c.206A>C	c.(205-207)aAc>aCc	p.N69T		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	69					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CTGGAACTGGTTGCCATCAAA	0.502																																						dbGAP											0													124.0	124.0	124.0					9																	21166406		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6497.1	9p22	2010-12-10			ENSG00000137080	ENSG00000137080		"""Interferons"""	5424	protein-coding gene	gene with protein product	"""leukocyte interferon protein"""	147584				1385305	Standard	NM_002175		Approved	IFN-alphaI	uc003zom.2	P01568	OTTHUMG00000019653	ENST00000380225.1:c.206A>C	9.37:g.21166406T>G	ENSP00000369574:p.Asn69Thr		Q14608|Q5VWD1|Q7M4Q4	Missense_Mutation	SNP	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.N69T	ENST00000380225.1	37	c.206	CCDS6497.1	9	.	.	.	.	.	.	.	.	.	.	N	9.692	1.152056	0.21371	.	.	ENSG00000137080	ENST00000380225	T	0.03330	3.97	4.02	-4.05	0.03998	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.616840	0.02788	N	0.121662	T	0.04998	0.0134	L	0.41079	1.255	0.09310	N	1	B	0.13594	0.008	B	0.20577	0.03	T	0.46596	-0.9180	10	0.62326	D	0.03	.	11.0812	0.48062	0.0:0.5906:0.0:0.4094	.	69	P01568	IFN21_HUMAN	T	69	ENSP00000369574:N69T	ENSP00000369574:N69T	N	-	2	0	IFNA21	21156406	0.000000	0.05858	0.000000	0.03702	0.158000	0.22134	-1.823000	0.01710	-0.773000	0.04596	-0.288000	0.09946	AAC	IFNA21	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta	ENSG00000137080		0.502	IFNA21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNA21	HGNC	protein_coding	OTTHUMT00000051882.1	188	0.00	0	T	NM_002175		21166406	21166406	-1	no_errors	ENST00000380225	ensembl	human	known	69_37n	missense	92	31.85	43	SNP	0.000	G
KCNK5	8645	genome.wustl.edu	37	6	39159450	39159450	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A401-01A-11D-A23C-09	TCGA-B6-A401-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c4c02c3-179f-4833-850a-131a002cf99a	43e7f97e-c87c-4f11-94fd-98b925fc45bc	g.chr6:39159450G>A	ENST00000359534.3	-	5	1054	c.716C>T	c.(715-717)tCc>tTc	p.S239F		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	239					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GACAAAAAGGGACAGCCAGGC	0.587																																						dbGAP											0													83.0	93.0	90.0					6																	39159450		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.716C>T	6.37:g.39159450G>A	ENSP00000352527:p.Ser239Phe		B2RAQ6|B5TJL2|Q5VV76	Missense_Mutation	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK	p.S239F	ENST00000359534.3	37	c.716	CCDS4841.1	6	.	.	.	.	.	.	.	.	.	.	G	23.8	4.456480	0.84317	.	.	ENSG00000164626	ENST00000359534	T	0.29142	1.58	5.27	4.34	0.51931	Ion transport 2 (1);	0.065477	0.64402	D	0.000006	T	0.44498	0.1296	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.28459	-1.0043	10	0.48119	T	0.1	.	15.655	0.77126	0.0:0.1373:0.8627:0.0	.	239	O95279	KCNK5_HUMAN	F	239	ENSP00000352527:S239F	ENSP00000352527:S239F	S	-	2	0	KCNK5	39267428	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.881000	0.87252	2.619000	0.88677	0.561000	0.74099	TCC	KCNK5	-	pfam_Ion_trans_2,prints_2pore_dom_K_chnl_TASK	ENSG00000164626		0.587	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK5	HGNC	protein_coding	OTTHUMT00000040449.1	44	0.00	0	G	NM_003740		39159450	39159450	-1	no_errors	ENST00000359534	ensembl	human	known	69_37n	missense	26	18.75	6	SNP	1.000	A
MEPCE	56257	genome.wustl.edu	37	7	100030663	100030663	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B6-A401-01A-11D-A23C-09	TCGA-B6-A401-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c4c02c3-179f-4833-850a-131a002cf99a	43e7f97e-c87c-4f11-94fd-98b925fc45bc	g.chr7:100030663delG	ENST00000310512.2	+	2	2181	c.1793delG	c.(1792-1794)cgcfs	p.R598fs	RP11-758P17.2_ENST00000492523.1_RNA|MEPCE_ENST00000414441.1_Frame_Shift_Del_p.R129fs|PPP1R35_ENST00000476185.1_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	598	Bin3-type SAM. {ECO:0000255|PROSITE- ProRule:PRU00848}.				negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCCTGAAGCGCATGTTTCGC	0.592																																						dbGAP											0													89.0	81.0	84.0					7																	100030663		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"""bin3, bicoid-interacting 3, homolog (Drosophila)"""	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.1793delG	7.37:g.100030663delG	ENSP00000308546:p.Arg598fs		B3KP86|D6W5V7|Q9NPD4	Frame_Shift_Del	DEL	pfam_Bin3	p.R598fs	ENST00000310512.2	37	c.1793	CCDS5693.1	7																																																																																			MEPCE	-	pfam_Bin3	ENSG00000146834		0.592	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEPCE	HGNC	protein_coding	OTTHUMT00000339135.1	44	0.00	0	G			100030663	100030663	+1	no_errors	ENST00000310512	ensembl	human	known	69_37n	frame_shift_del	39	16.67	8	DEL	1.000	-
PAX9	5083	genome.wustl.edu	37	14	37135796	37135796	+	Missense_Mutation	SNP	A	A	G			TCGA-B6-A401-01A-11D-A23C-09	TCGA-B6-A401-10A-01D-A23C-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c4c02c3-179f-4833-850a-131a002cf99a	43e7f97e-c87c-4f11-94fd-98b925fc45bc	g.chr14:37135796A>G	ENST00000361487.6	+	3	986	c.761A>G	c.(760-762)aAg>aGg	p.K254R	PAX9_ENST00000557107.1_3'UTR|PAX9_ENST00000554201.1_Splice_Site_p.K67R|PAX9_ENST00000402703.2_Missense_Mutation_p.K254R			P55771	PAX9_HUMAN	paired box 9	254					cellular response to growth factor stimulus (GO:0071363)|endoderm development (GO:0007492)|face morphogenesis (GO:0060325)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|regulation of odontogenesis (GO:0042481)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		CAGGAAGCCAAGTACGGTCAG	0.657																																						dbGAP											0													28.0	13.0	18.0					14																	37135796		2167	4267	6434	-	-	-	SO:0001583	missense	0			AJ238381	CCDS9662.1	14q13.3	2007-07-12	2007-07-12		ENSG00000198807	ENSG00000198807		"""Paired boxes"""	8623	protein-coding gene	gene with protein product		167416	"""paired box gene 9"""			7981748	Standard	NM_006194		Approved		uc001wty.4	P55771	OTTHUMG00000140251	ENST00000361487.6:c.761A>G	14.37:g.37135796A>G	ENSP00000355245:p.Lys254Arg		Q99582|Q9UQR4	Missense_Mutation	SNP	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	p.K254R	ENST00000361487.6	37	c.761	CCDS9662.1	14	.	.	.	.	.	.	.	.	.	.	A	13.90	2.375321	0.42105	.	.	ENSG00000198807	ENST00000402703;ENST00000361487;ENST00000554201;ENST00000543853	D;D;T	0.99051	-5.37;-5.37;0.09	5.32	5.32	0.75619	.	0.203933	0.49916	N	0.000130	D	0.97632	0.9224	L	0.55990	1.75	0.44388	D	0.997299	B	0.02656	0.0	B	0.04013	0.001	D	0.96198	0.9143	10	0.54805	T	0.06	.	14.9428	0.71006	1.0:0.0:0.0:0.0	.	254	P55771	PAX9_HUMAN	R	254;254;67;43	ENSP00000384817:K254R;ENSP00000355245:K254R;ENSP00000450434:K67R	ENSP00000355245:K254R	K	+	2	0	PAX9	36205547	1.000000	0.71417	1.000000	0.80357	0.062000	0.15995	7.275000	0.78548	2.019000	0.59389	0.454000	0.30748	AAG	PAX9	-	NULL	ENSG00000198807		0.657	PAX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX9	HGNC	protein_coding	OTTHUMT00000276733.2	99	0.00	0	A			37135796	37135796	+1	no_errors	ENST00000361487	ensembl	human	known	69_37n	missense	58	24.68	19	SNP	1.000	G
PIK3CA	5290	genome.wustl.edu	37	3	178921553	178921553	+	Missense_Mutation	SNP	T	T	A	rs121913284		TCGA-B6-A401-01A-11D-A23C-09	TCGA-B6-A401-10A-01D-A23C-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c4c02c3-179f-4833-850a-131a002cf99a	43e7f97e-c87c-4f11-94fd-98b925fc45bc	g.chr3:178921553T>A	ENST00000263967.3	+	5	1192	c.1035T>A	c.(1033-1035)aaT>aaA	p.N345K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	345	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.N345K(44)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CCTACGTGAATGTAAATATTC	0.308		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	44	Substitution - Missense(44)	breast(27)|endometrium(6)|large_intestine(6)|central_nervous_system(5)											67.0	66.0	66.0					3																	178921553		1807	4074	5881	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1035T>A	3.37:g.178921553T>A	ENSP00000263967:p.Asn345Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.N345K	ENST00000263967.3	37	c.1035	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	T	16.01	3.002090	0.54254	.	.	ENSG00000121879	ENST00000263967	T	0.70164	-0.46	5.41	3.03	0.35002	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.77745	0.4176	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.75465	-0.3308	10	0.49607	T	0.09	-21.0442	9.7159	0.40274	0.0:0.1415:0.0:0.8585	.	345	P42336	PK3CA_HUMAN	K	345	ENSP00000263967:N345K	ENSP00000263967:N345K	N	+	3	2	PIK3CA	180404247	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.030000	0.41108	0.441000	0.26529	0.402000	0.26972	AAT	PIK3CA	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom	ENSG00000121879		0.308	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	36	0.00	0	T			178921553	178921553	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	28	42.86	21	SNP	1.000	A
R3HDM2	22864	genome.wustl.edu	37	12	57674194	57674194	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A401-01A-11D-A23C-09	TCGA-B6-A401-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c4c02c3-179f-4833-850a-131a002cf99a	43e7f97e-c87c-4f11-94fd-98b925fc45bc	g.chr12:57674194G>C	ENST00000347140.3	-	14	1639	c.1249C>G	c.(1249-1251)Ctc>Gtc	p.L417V	RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000358907.2_Missense_Mutation_p.L417V|R3HDM2_ENST00000402412.1_Missense_Mutation_p.L431V|R3HDM2_ENST00000403821.2_Missense_Mutation_p.L417V|R3HDM2_ENST00000441731.2_Missense_Mutation_p.L78V|R3HDM2_ENST00000413953.2_Missense_Mutation_p.L144V			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	417	Gln-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GTGGGTGGGAGAGCAGGAAGT	0.557																																						dbGAP											0													138.0	124.0	129.0					12																	57674194		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.1249C>G	12.37:g.57674194G>C	ENSP00000317903:p.Leu417Val		Q2M1T9|Q3ZCT5	Missense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.L417V	ENST00000347140.3	37	c.1249	CCDS8937.2	12	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458564	0.63401	.	.	ENSG00000179912	ENST00000413953;ENST00000393811;ENST00000347140;ENST00000402412;ENST00000358907;ENST00000441731;ENST00000429355;ENST00000403821	T;T;T;T;T;T;T;T	0.46063	0.9;0.91;1.91;1.91;1.91;0.88;1.49;1.93	4.8	4.8	0.61643	.	0.301172	0.32258	N	0.006347	T	0.49966	0.1588	L	0.29908	0.895	0.49389	D	0.999787	D;D;D;D;D	0.71674	0.998;0.993;0.993;0.993;0.996	D;D;D;D;D	0.77557	0.99;0.967;0.967;0.967;0.978	T	0.30592	-0.9973	10	0.13470	T	0.59	-8.9049	16.7867	0.85575	0.0:0.0:1.0:0.0	.	144;417;431;417;144	B4DDZ2;B5MCG9;B5MCU0;Q9Y2K5;E9PAL1	.;.;.;R3HD2_HUMAN;.	V	144;144;417;431;417;78;182;417	ENSP00000409146:L144V;ENSP00000377400:L144V;ENSP00000317903:L417V;ENSP00000385839:L431V;ENSP00000351784:L417V;ENSP00000408536:L78V;ENSP00000394676:L182V;ENSP00000385169:L417V	ENSP00000317903:L417V	L	-	1	0	R3HDM2	55960461	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.813000	0.86123	2.493000	0.84123	0.561000	0.74099	CTC	R3HDM2	-	NULL	ENSG00000179912		0.557	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	R3HDM2	HGNC	protein_coding	OTTHUMT00000326570.2	46	0.00	0	G	NM_014925		57674194	57674194	-1	no_errors	ENST00000347140	ensembl	human	known	69_37n	missense	41	14.58	7	SNP	1.000	C
SHROOM2	357	genome.wustl.edu	37	X	9864212	9864212	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A401-01A-11D-A23C-09	TCGA-B6-A401-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c4c02c3-179f-4833-850a-131a002cf99a	43e7f97e-c87c-4f11-94fd-98b925fc45bc	g.chrX:9864212C>T	ENST00000380913.3	+	4	2354	c.2264C>T	c.(2263-2265)aCa>aTa	p.T755I		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	755	ASD1. {ECO:0000255|PROSITE- ProRule:PRU00637}.				apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				AGACGGTTCACAGCTGAGCAG	0.632																																						dbGAP											0													18.0	16.0	17.0					X																	9864212		2202	4297	6499	-	-	-	SO:0001583	missense	0			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.2264C>T	X.37:g.9864212C>T	ENSP00000370299:p.Thr755Ile		B9EIQ7	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.T755I	ENST00000380913.3	37	c.2264	CCDS14135.1	X	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945029	0.73672	.	.	ENSG00000146950	ENST00000380913	T	0.58506	0.33	5.04	5.04	0.67666	Apx/shroom, ASD1 (2);	0.117837	0.56097	D	0.000031	T	0.79707	0.4492	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.83901	0.0290	10	0.66056	D	0.02	-20.6395	17.6587	0.88185	0.0:1.0:0.0:0.0	.	755	Q13796	SHRM2_HUMAN	I	755	ENSP00000370299:T755I	ENSP00000370299:T755I	T	+	2	0	SHROOM2	9824212	1.000000	0.71417	0.895000	0.35142	0.512000	0.34134	7.365000	0.79537	2.098000	0.63641	0.600000	0.82982	ACA	SHROOM2	-	pfam_ASD1	ENSG00000146950		0.632	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM2	HGNC	protein_coding	OTTHUMT00000055721.1	79	0.00	0	C	NM_001649		9864212	9864212	+1	no_errors	ENST00000380913	ensembl	human	known	69_37n	missense	75	10.71	9	SNP	0.999	T
SLITRK2	84631	genome.wustl.edu	37	X	144906243	144906243	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A401-01A-11D-A23C-09	TCGA-B6-A401-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c4c02c3-179f-4833-850a-131a002cf99a	43e7f97e-c87c-4f11-94fd-98b925fc45bc	g.chrX:144906243C>A	ENST00000370490.1	+	1	6555	c.2300C>A	c.(2299-2301)cCc>cAc	p.P767H	SLITRK2_ENST00000447897.2_Missense_Mutation_p.P767H|SLITRK2_ENST00000434188.2_Missense_Mutation_p.P767H|SLITRK2_ENST00000428560.2_Missense_Mutation_p.P767H|TMEM257_ENST00000408967.2_5'Flank|SLITRK2_ENST00000413937.2_Missense_Mutation_p.P767H			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	767					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					AAGGAACTTCCCAGCGCAGGC	0.463																																						dbGAP											0													156.0	141.0	146.0					X																	144906243		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.2300C>A	X.37:g.144906243C>A	ENSP00000359521:p.Pro767His		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.P767H	ENST00000370490.1	37	c.2300	CCDS14680.1	X	.	.	.	.	.	.	.	.	.	.	C	17.38	3.375159	0.61735	.	.	ENSG00000185985	ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.62816	0.2459	L	0.56769	1.78	0.58432	D	0.999997	D	0.64830	0.994	P	0.61328	0.887	T	0.65393	-0.6179	10	0.66056	D	0.02	-7.9805	15.765	0.78120	0.0:1.0:0.0:0.0	.	767	Q9H156	SLIK2_HUMAN	H	767	ENSP00000411681:P767H;ENSP00000359521:P767H;ENSP00000397015:P767H;ENSP00000407347:P767H;ENSP00000412010:P767H	ENSP00000359521:P767H	P	+	2	0	SLITRK2	144713935	1.000000	0.71417	0.963000	0.40424	0.703000	0.40648	7.487000	0.81328	2.320000	0.78422	0.600000	0.82982	CCC	SLITRK2	-	NULL	ENSG00000185985		0.463	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK2	HGNC	protein_coding	OTTHUMT00000058633.1	30	0.00	0	C	NM_032539		144906243	144906243	+1	no_errors	ENST00000370490	ensembl	human	known	69_37n	missense	36	26.53	13	SNP	1.000	A
TAS2R43	259289	genome.wustl.edu	37	12	11244166	11244166	+	Silent	SNP	G	G	C	rs35720106	byFrequency	TCGA-B6-A401-01A-11D-A23C-09	TCGA-B6-A401-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c4c02c3-179f-4833-850a-131a002cf99a	43e7f97e-c87c-4f11-94fd-98b925fc45bc	g.chr12:11244166G>C	ENST00000531678.1	-	1	746	c.663C>G	c.(661-663)acC>acG	p.T221T	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	221					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.T221T(1)		endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TGTGGACCTTGGTGCTGGGAT	0.398													.|||	3199	0.638778	0.1218	0.7205	5008	,	,		13366	0.9405		0.7793	False		,,,				2504	0.8241					dbGAP											1	Substitution - coding silent(1)	prostate(1)											130.0	112.0	118.0					12																	11244166		2176	4249	6425	-	-	-	SO:0001819	synonymous_variant	0			AF494237	CCDS53749.1	12p13.2	2012-08-22				ENSG00000255374		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18875	protein-coding gene	gene with protein product		612668				12379855	Standard	NM_176884		Approved	T2R52	uc001qzq.1	P59537		ENST00000531678.1:c.663C>G	12.37:g.11244166G>C			P59546|Q645X4	Silent	SNP	pfam_TAS2_rcpt	p.T221	ENST00000531678.1	37	c.663	CCDS53749.1	12																																																																																			TAS2R43	-	pfam_TAS2_rcpt	ENSG00000255374		0.398	TAS2R43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R43	HGNC	protein_coding	OTTHUMT00000383561.1	14	0.00	0	G	NM_176884		11244166	11244166	-1	no_errors	ENST00000531678	ensembl	human	known	69_37n	silent	9	30.77	4	SNP	0.185	C
TAS2R43	259289	genome.wustl.edu	37	12	11244194	11244194	+	Missense_Mutation	SNP	T	T	C	rs71443637	byFrequency	TCGA-B6-A401-01A-11D-A23C-09	TCGA-B6-A401-10A-01D-A23C-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c4c02c3-179f-4833-850a-131a002cf99a	43e7f97e-c87c-4f11-94fd-98b925fc45bc	g.chr12:11244194T>C	ENST00000531678.1	-	1	718	c.635A>G	c.(634-636)cAt>cGt	p.H212R	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	212				H -> R (in Ref. 1; AAM19328, 3; AAU21145 and 5; AAI17424). {ECO:0000305}.	detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TCCTTTACCATGGAGCTGCAT	0.408													.|||	3114	0.621805	0.0998	0.7104	5008	,	,		13446	0.9425		0.7525	False		,,,				2504	0.7996					dbGAP											0													123.0	99.0	107.0					12																	11244194		2155	4165	6320	-	-	-	SO:0001583	missense	0			AF494237	CCDS53749.1	12p13.2	2012-08-22				ENSG00000255374		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18875	protein-coding gene	gene with protein product		612668				12379855	Standard	NM_176884		Approved	T2R52	uc001qzq.1	P59537		ENST00000531678.1:c.635A>G	12.37:g.11244194T>C	ENSP00000431719:p.His212Arg		P59546|Q645X4	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.H212R	ENST00000531678.1	37	c.635	CCDS53749.1	12	949	0.43452380952380953	28	0.056910569105691054	163	0.45027624309392267	439	0.7674825174825175	319	0.420844327176781	-	2.129	-0.399500	0.04865	.	.	ENSG00000255374	ENST00000531678	T	0.00737	5.76	1.45	-1.32	0.09201	.	.	.	.	.	T	0.00012	0.0000	M	0.86178	2.8	0.80722	P	0.0	.	.	.	.	.	.	T	0.07028	-1.0794	6	0.52906	T	0.07	.	4.3248	0.11034	0.0:0.4339:0.0:0.5661	.	.	.	.	R	212	ENSP00000431719:H212R	ENSP00000431719:H212R	H	-	2	0	TAS2R43	11135461	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.381000	0.07417	-0.374000	0.07967	-1.273000	0.01405	CAT	TAS2R43	-	pfam_TAS2_rcpt	ENSG00000255374		0.408	TAS2R43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R43	HGNC	protein_coding	OTTHUMT00000383561.1	16	0.00	0	T	NM_176884		11244194	11244194	-1	no_errors	ENST00000531678	ensembl	human	known	69_37n	missense	9	30.77	4	SNP	0.000	C
TMEM30A	55754	genome.wustl.edu	37	6	75965874	75965874	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A401-01A-11D-A23C-09	TCGA-B6-A401-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c4c02c3-179f-4833-850a-131a002cf99a	43e7f97e-c87c-4f11-94fd-98b925fc45bc	g.chr6:75965874G>T	ENST00000230461.6	-	7	1359	c.1030C>A	c.(1030-1032)Cta>Ata	p.L344I	TMEM30A_ENST00000475111.2_Missense_Mutation_p.L308I|TMEM30A_ENST00000370050.5_Missense_Mutation_p.L225I	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	344					drug transmembrane transport (GO:0006855)|phospholipid translocation (GO:0045332)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endosome (GO:0036010)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTAATTACTAGCAGTACAACT	0.363																																						dbGAP											0													87.0	85.0	86.0					6																	75965874		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001718	CCDS4983.1, CCDS47453.1	6q14.1	2014-01-28	2004-06-17	2004-06-18	ENSG00000112697	ENSG00000112697			16667	protein-coding gene	gene with protein product		611028	"""chromosome 6 open reading frame 67"""	C6orf67		15375526	Standard	NM_001143958		Approved	FLJ10856, CDC50A	uc003phw.2	Q9NV96	OTTHUMG00000015050	ENST00000230461.6:c.1030C>A	6.37:g.75965874G>T	ENSP00000230461:p.Leu344Ile		A8K9V8|E1P539|Q658Z3|Q96H09|Q9NSL9	Missense_Mutation	SNP	pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk	p.L344I	ENST00000230461.6	37	c.1030	CCDS4983.1	6	.	.	.	.	.	.	.	.	.	.	G	17.83	3.486363	0.63962	.	.	ENSG00000112697	ENST00000230461;ENST00000545449;ENST00000370050;ENST00000475111	.	.	.	5.77	4.9	0.64082	.	0.061355	0.64402	D	0.000002	T	0.70928	0.3280	M	0.82716	2.605	0.53005	D	0.999968	D;D	0.71674	0.986;0.998	D;D	0.71414	0.926;0.973	T	0.75416	-0.3325	9	0.54805	T	0.06	.	9.0358	0.36287	0.2189:0.0:0.7811:0.0	.	308;344	Q9NV96-2;Q9NV96	.;CC50A_HUMAN	I	344;328;225;308	.	ENSP00000230461:L344I	L	-	1	2	TMEM30A	76022594	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.258000	0.58822	1.449000	0.47699	0.650000	0.86243	CTA	TMEM30A	-	pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk	ENSG00000112697		0.363	TMEM30A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM30A	HGNC	protein_coding	OTTHUMT00000041248.2	42	0.00	0	G	NM_018247		75965874	75965874	-1	no_errors	ENST00000230461	ensembl	human	known	69_37n	missense	25	10.71	3	SNP	1.000	T
TP53	7157	genome.wustl.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-B6-A401-01A-11D-A23C-09	TCGA-B6-A401-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c4c02c3-179f-4833-850a-131a002cf99a	43e7f97e-c87c-4f11-94fd-98b925fc45bc	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50.0	50.0	50.0					17																	7578406		2203	4300	6503	-	-	-	SO:0001583	missense	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		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	Missense_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.R175H	ENST00000269305.4	37	c.524	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	36	0.00	0	C	NM_000546		7578406	7578406	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	16	60.00	24	SNP	1.000	T
TPRX1	284355	genome.wustl.edu	37	19	48306222	48306222	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A401-01A-11D-A23C-09	TCGA-B6-A401-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c4c02c3-179f-4833-850a-131a002cf99a	43e7f97e-c87c-4f11-94fd-98b925fc45bc	g.chr19:48306222G>A	ENST00000322175.3	-	2	201	c.46C>T	c.(46-48)Cgc>Tgc	p.R16C	TPRX1_ENST00000543508.1_Missense_Mutation_p.R16C|TPRX1_ENST00000535759.1_Missense_Mutation_p.R113C	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	16						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		TTGGCGCGGCGATTCTTGAAC	0.706																																					Esophageal Squamous(123;175 2281 3051 32395)	dbGAP											0													3.0	4.0	4.0					19																	48306222		1550	3021	4571	-	-	-	SO:0001583	missense	0				CCDS33066.1	19q13.33	2011-07-08			ENSG00000178928	ENSG00000178928		"""Homeoboxes / PRD class"""	32174	protein-coding gene	gene with protein product		611166					Standard	XM_005258788		Approved	FLJ40321	uc002php.2	Q8N7U7		ENST00000322175.3:c.46C>T	19.37:g.48306222G>A	ENSP00000323455:p.Arg16Cys		A5D8Y3|B2RPL5	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.R113C	ENST00000322175.3	37	c.337	CCDS33066.1	19	.	.	.	.	.	.	.	.	.	.	-	11.33	1.605609	0.28623	.	.	ENSG00000178928	ENST00000322175;ENST00000535759;ENST00000543508	D;D;D	0.97831	-4.45;-4.56;-4.45	1.4	0.336	0.15958	Homeodomain-related (1);Homeobox (1);	.	.	.	.	D	0.96178	0.8754	H	0.94462	3.54	0.29674	N	0.842267	P	0.44090	0.826	B	0.27715	0.082	D	0.92427	0.5950	9	0.87932	D	0	.	3.6614	0.08240	0.2523:0.0:0.7477:0.0	.	16	Q8N7U7	TPRX1_HUMAN	C	16;113;16	ENSP00000323455:R16C;ENSP00000438832:R113C;ENSP00000438712:R16C	ENSP00000323455:R16C	R	-	1	0	TPRX1	52998034	0.840000	0.29493	0.655000	0.29622	0.166000	0.22503	1.769000	0.38522	0.168000	0.19655	0.491000	0.48974	CGC	TPRX1	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	ENSG00000178928		0.706	TPRX1-001	KNOWN	basic|CCDS	protein_coding	TPRX1	HGNC	protein_coding	OTTHUMT00000409868.1	90	0.00	0	G	NM_198479		48306222	48306222	-1	no_errors	ENST00000535759	ensembl	human	known	69_37n	missense	65	12.16	9	SNP	0.665	A
TUBBP5	643224	genome.wustl.edu	37	9	141044653	141044653	+	RNA	SNP	C	C	A	rs372352420		TCGA-B6-A401-01A-11D-A23C-09	TCGA-B6-A401-10A-01D-A23C-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c4c02c3-179f-4833-850a-131a002cf99a	43e7f97e-c87c-4f11-94fd-98b925fc45bc	g.chr9:141044653C>A	ENST00000503395.1	+	0	89									tubulin, beta pseudogene 5																		GCACCCACCCCGGAGGGGCCG	0.731											OREG0019635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-			0			AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141044653C>A		1661		RNA	SNP	-	NULL	ENST00000503395.1	37	NULL		9																																																																																			TUBBP5	-	-	ENSG00000159247		0.731	TUBBP5-003	KNOWN	basic	processed_transcript	TUBBP5	HGNC	pseudogene	OTTHUMT00000373087.1	9	0.00	0	C	NR_027156		141044653	141044653	+1	no_errors	ENST00000503395	ensembl	human	known	69_37n	rna	1	66.67	2	SNP	0.372	A
ZNRF1	84937	genome.wustl.edu	37	16	75033986	75033986	+	Silent	SNP	G	G	A			TCGA-B6-A401-01A-11D-A23C-09	TCGA-B6-A401-10A-01D-A23C-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1c4c02c3-179f-4833-850a-131a002cf99a	43e7f97e-c87c-4f11-94fd-98b925fc45bc	g.chr16:75033986G>A	ENST00000335325.4	+	1	1059	c.417G>A	c.(415-417)tcG>tcA	p.S139S	ZNRF1_ENST00000320619.6_Silent_p.S139S|ZNRF1_ENST00000566250.1_Silent_p.S139S|WDR59_ENST00000562331.1_5'Flank|ZNRF1_ENST00000567962.1_Silent_p.S139S	NM_032268.4	NP_115644.1	Q8ND25	ZNRF1_HUMAN	zinc and ring finger 1, E3 ubiquitin protein ligase	139					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|lysosome (GO:0005764)|membrane (GO:0016020)|synapse (GO:0045202)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)	1						GGTTCAGCTCGCATAGTGGTG	0.677																																						dbGAP											0													29.0	30.0	29.0					16																	75033986		2194	4299	6493	-	-	-	SO:0001819	synonymous_variant	0			AF378524	CCDS10912.1	16q22.3	2013-01-09	2012-02-23		ENSG00000186187	ENSG00000186187		"""RING-type (C3HC4) zinc fingers"""	18452	protein-coding gene	gene with protein product		612060	"""zinc and ring finger 1"""				Standard	NM_032268		Approved	nin283, FLJ14846, DKFZp434E229	uc002fdl.1	Q8ND25	OTTHUMG00000137606	ENST00000335325.4:c.417G>A	16.37:g.75033986G>A			D3DUJ9|Q9H083	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S139	ENST00000335325.4	37	c.417	CCDS10912.1	16																																																																																			ZNRF1	-	NULL	ENSG00000186187		0.677	ZNRF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNRF1	HGNC	protein_coding	OTTHUMT00000269020.2	74	0.00	0	G			75033986	75033986	+1	no_errors	ENST00000320619	ensembl	human	known	69_37n	silent	26	48.00	24	SNP	1.000	A
