#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
ANKRD16	54522	genome.wustl.edu	37	10	5930026	5930026	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0XV-01A-11D-A10G-09	TCGA-AN-A0XV-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f0e5a39-e2c7-4a93-bd63-f1bab1e7c16e	ad602351-e61a-4469-97b0-fedfa3320fdf	g.chr10:5930026G>A	ENST00000380094.5	-	2	862	c.319C>T	c.(319-321)Cct>Tct	p.P107S	ANKRD16_ENST00000191063.8_Missense_Mutation_p.P107S|FBXO18_ENST00000397269.3_5'Flank|FBXO18_ENST00000362091.4_5'Flank|ANKRD16_ENST00000380092.4_Missense_Mutation_p.P107S	NM_019046.2	NP_061919.1	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16	107								p.P107S(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						ATCATCAGAGGAGTCCTAAGG	0.542																																						dbGAP											1	Substitution - Missense(1)	breast(1)											87.0	90.0	89.0					10																	5930026		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL137614	CCDS31136.1, CCDS31137.1	10p15.1	2013-01-10			ENSG00000134461	ENSG00000134461		"""Ankyrin repeat domain containing"""	23471	protein-coding gene	gene with protein product							Standard	NM_019046		Approved	DKFZP434N1511	uc010qat.2	Q6P6B7	OTTHUMG00000017610	ENST00000380094.5:c.319C>T	10.37:g.5930026G>A	ENSP00000369436:p.Pro107Ser		A6NEF0|F8WEI4|Q9NT01	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.P107S	ENST00000380094.5	37	c.319	CCDS31136.1	10	.	.	.	.	.	.	.	.	.	.	G	27.0	4.794469	0.90453	.	.	ENSG00000134461	ENST00000380094;ENST00000380092;ENST00000191063	T;T;T	0.70986	-0.53;-0.53;-0.53	5.24	5.24	0.73138	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.83613	0.5292	M	0.83953	2.67	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.996	P;P;P	0.61397	0.888;0.888;0.858	D	0.85149	0.0985	10	0.52906	T	0.07	-13.4508	17.0186	0.86427	0.0:0.0:1.0:0.0	.	107;107;107	Q6P6B7;C9JP28;F8WEI4	ANR16_HUMAN;.;.	S	107	ENSP00000369436:P107S;ENSP00000369434:P107S;ENSP00000352361:P107S	ENSP00000352361:P107S	P	-	1	0	ANKRD16	5970032	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.420000	0.97426	2.615000	0.88500	0.558000	0.71614	CCT	ANKRD16	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000134461		0.542	ANKRD16-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	ANKRD16	HGNC	protein_coding	OTTHUMT00000046611.2	33	0.00	0	G	XM_166138		5930026	5930026	-1	no_errors	ENST00000380092	ensembl	human	known	69_37n	missense	24	36.84	14	SNP	1.000	A
BARX2	8538	genome.wustl.edu	37	11	129306679	129306679	+	Missense_Mutation	SNP	C	C	T	rs551250441	byFrequency	TCGA-AN-A0XV-01A-11D-A10G-09	TCGA-AN-A0XV-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f0e5a39-e2c7-4a93-bd63-f1bab1e7c16e	ad602351-e61a-4469-97b0-fedfa3320fdf	g.chr11:129306679C>T	ENST00000281437.4	+	2	317	c.221C>T	c.(220-222)tCg>tTg	p.S74L	BARX2_ENST00000526127.1_5'UTR	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	74					cartilage condensation (GO:0001502)|catagen (GO:0042637)|myotube differentiation (GO:0014902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|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)	p.S74L(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		CCGCTCCTCTCGGTGATCACC	0.667													C|||	4	0.000798722	0.0	0.0	5008	,	,		15027	0.0		0.0	False		,,,				2504	0.0041					dbGAP											1	Substitution - Missense(1)	breast(1)											102.0	105.0	104.0					11																	129306679		2201	4297	6498	-	-	-	SO:0001583	missense	0			AF031924	CCDS8481.1	11q24.3	2011-06-20	2007-07-09		ENSG00000043039	ENSG00000043039		"""Homeoboxes / ANTP class : NKL subclass"""	956	protein-coding gene	gene with protein product		604823	"""BarH-like homeobox 2"""			10644443	Standard	NM_003658		Approved		uc001qfc.4	Q9UMQ3	OTTHUMG00000165776	ENST00000281437.4:c.221C>T	11.37:g.129306679C>T	ENSP00000281437:p.Ser74Leu		O43518|Q6NT51	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa	p.S74L	ENST00000281437.4	37	c.221	CCDS8481.1	11	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450283	0.84101	.	.	ENSG00000043039	ENST00000281437	D	0.91124	-2.79	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.92945	0.7755	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.92773	0.6234	10	0.48119	T	0.1	.	18.2552	0.90017	0.0:1.0:0.0:0.0	.	74	Q9UMQ3	BARX2_HUMAN	L	74	ENSP00000281437:S74L	ENSP00000281437:S74L	S	+	2	0	BARX2	128811889	1.000000	0.71417	0.980000	0.43619	0.934000	0.57294	7.441000	0.80485	2.644000	0.89710	0.563000	0.77884	TCG	BARX2	-	NULL	ENSG00000043039		0.667	BARX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARX2	HGNC	protein_coding	OTTHUMT00000386153.1	14	0.00	0	C	NM_003658		129306679	129306679	+1	no_errors	ENST00000281437	ensembl	human	known	69_37n	missense	9	40.00	6	SNP	1.000	T
CEP120	153241	genome.wustl.edu	37	5	122685675	122685675	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A0XV-01A-11D-A10G-09	TCGA-AN-A0XV-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f0e5a39-e2c7-4a93-bd63-f1bab1e7c16e	ad602351-e61a-4469-97b0-fedfa3320fdf	g.chr5:122685675G>A	ENST00000306467.5	-	19	2993	c.2689C>T	c.(2689-2691)Cga>Tga	p.R897*	CEP120_ENST00000328236.5_Nonsense_Mutation_p.R897*|CEP120_ENST00000306481.6_Nonsense_Mutation_p.R871*			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	897					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.R897*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						AATTCTTGTCGCTCGGTTTTT	0.368																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											129.0	121.0	124.0					5																	122685675		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.2689C>T	5.37:g.122685675G>A	ENSP00000303058:p.Arg897*		Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Nonsense_Mutation	SNP	pfam_DUF3668,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.R897*	ENST00000306467.5	37	c.2689	CCDS4134.2	5	.	.	.	.	.	.	.	.	.	.	G	38	7.054474	0.98032	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481	.	.	.	5.6	3.76	0.43208	.	0.088933	0.44285	U	0.000464	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.3138	14.7612	0.69607	0.0:0.0:0.7097:0.2903	.	.	.	.	X	897;897;871	.	ENSP00000303058:R897X	R	-	1	2	CEP120	122713574	0.581000	0.26741	0.305000	0.25099	0.900000	0.52787	2.360000	0.44151	0.647000	0.30713	0.563000	0.77884	CGA	CEP120	-	NULL	ENSG00000168944		0.368	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP120	HGNC	protein_coding	OTTHUMT00000250899.2	251	0.00	0	G	NM_153223		122685675	122685675	-1	no_errors	ENST00000306467	ensembl	human	known	69_37n	nonsense	194	28.15	76	SNP	0.990	A
CYP26B1	56603	genome.wustl.edu	37	2	72361955	72361955	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0XV-01A-11D-A10G-09	TCGA-AN-A0XV-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f0e5a39-e2c7-4a93-bd63-f1bab1e7c16e	ad602351-e61a-4469-97b0-fedfa3320fdf	g.chr2:72361955C>T	ENST00000001146.2	-	4	999	c.796G>A	c.(796-798)Gcc>Acc	p.A266T	CYP26B1_ENST00000412253.1_Missense_Mutation_p.A75T|CYP26B1_ENST00000546307.1_Missense_Mutation_p.A191T	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	266					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)	p.A266T(1)		breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						AGGTCCAGGGCGTCCAAGTAG	0.627																																						dbGAP											1	Substitution - Missense(1)	breast(1)											161.0	128.0	139.0					2																	72361955		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"""Cytochrome P450s"""	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.796G>A	2.37:g.72361955C>T	ENSP00000001146:p.Ala266Thr		B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_B,prints_Cyt_P450	p.A266T	ENST00000001146.2	37	c.796	CCDS1919.1	2	.	.	.	.	.	.	.	.	.	.	C	25.6	4.654716	0.88056	.	.	ENSG00000003137	ENST00000001146;ENST00000412253;ENST00000546307	T;T;T	0.68765	-0.35;-0.35;-0.35	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.65123	0.2661	M	0.62209	1.925	0.80722	D	1	P;B;B	0.36065	0.535;0.063;0.068	B;B;B	0.33568	0.166;0.036;0.103	T	0.68808	-0.5311	10	0.51188	T	0.08	-8.6279	17.4917	0.87705	0.0:1.0:0.0:0.0	.	191;249;266	B7Z2K6;B7Z2P4;Q9NR63	.;.;CP26B_HUMAN	T	266;75;191	ENSP00000001146:A266T;ENSP00000401465:A75T;ENSP00000443304:A191T	ENSP00000001146:A266T	A	-	1	0	CYP26B1	72215463	1.000000	0.71417	0.484000	0.27391	0.945000	0.59286	7.783000	0.85696	2.544000	0.85801	0.655000	0.94253	GCC	CYP26B1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000003137		0.627	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP26B1	HGNC	protein_coding	OTTHUMT00000251969.1	37	0.00	0	C	NM_019885		72361955	72361955	-1	no_errors	ENST00000001146	ensembl	human	known	69_37n	missense	29	32.56	14	SNP	1.000	T
DHX15	1665	genome.wustl.edu	37	4	24542562	24542562	+	Missense_Mutation	SNP	A	A	T			TCGA-AN-A0XV-01A-11D-A10G-09	TCGA-AN-A0XV-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f0e5a39-e2c7-4a93-bd63-f1bab1e7c16e	ad602351-e61a-4469-97b0-fedfa3320fdf	g.chr4:24542562A>T	ENST00000336812.4	-	9	1651	c.1495T>A	c.(1495-1497)Tat>Aat	p.Y499N	DHX15_ENST00000508032.1_5'Flank	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	499	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.Y499N(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				ATCTCAGGATAGGTGTTATCC	0.363																																						dbGAP											1	Substitution - Missense(1)	breast(1)											84.0	80.0	81.0					4																	24542562		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"""DEAH-boxes"""	2738	protein-coding gene	gene with protein product		603403	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 15"""	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.1495T>A	4.37:g.24542562A>T	ENSP00000336741:p.Tyr499Asn		Q9NQT7	Missense_Mutation	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Y499N	ENST00000336812.4	37	c.1495	CCDS33966.1	4	.	.	.	.	.	.	.	.	.	.	A	25.6	4.653010	0.88056	.	.	ENSG00000109606	ENST00000336812;ENST00000535946	T	0.02631	4.22	5.97	5.97	0.96955	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.15955	0.0384	M	0.77820	2.39	0.80722	D	1	D	0.71674	0.998	D	0.72338	0.977	T	0.00061	-1.2160	10	0.72032	D	0.01	-15.3398	16.1223	0.81369	1.0:0.0:0.0:0.0	.	499	O43143	DHX15_HUMAN	N	499;488	ENSP00000336741:Y499N	ENSP00000336741:Y499N	Y	-	1	0	DHX15	24151660	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.839000	0.92120	2.288000	0.76882	0.533000	0.62120	TAT	DHX15	-	pfscan_Helicase_C	ENSG00000109606		0.363	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX15	HGNC	protein_coding	OTTHUMT00000360143.1	147	0.00	0	A	NM_001358		24542562	24542562	-1	no_errors	ENST00000336812	ensembl	human	known	69_37n	missense	133	10.74	16	SNP	1.000	T
FASTKD3	79072	genome.wustl.edu	37	5	7867647	7867647	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0XV-01A-11D-A10G-09	TCGA-AN-A0XV-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f0e5a39-e2c7-4a93-bd63-f1bab1e7c16e	ad602351-e61a-4469-97b0-fedfa3320fdf	g.chr5:7867647C>T	ENST00000264669.5	-	2	686	c.550G>A	c.(550-552)Gct>Act	p.A184T	MTRR_ENST00000502509.1_Intron|MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000341013.6_5'Flank|MTRR_ENST00000440940.2_5'Flank|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	184					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.A184T(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AGAATCAGAGCTTGCAAAGCA	0.433																																						dbGAP											1	Substitution - Missense(1)	breast(1)											80.0	79.0	79.0					5																	7867647		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.550G>A	5.37:g.7867647C>T	ENSP00000264669:p.Ala184Thr		Q9BVD3	Missense_Mutation	SNP	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.A184T	ENST00000264669.5	37	c.550	CCDS3873.1	5	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215487	0.79352	.	.	ENSG00000124279	ENST00000264669;ENST00000504695;ENST00000507572	T;T;T	0.28895	1.59;1.59;1.59	4.96	3.08	0.35506	.	0.107172	0.64402	D	0.000006	T	0.47930	0.1472	M	0.72894	2.215	0.47511	D	0.999441	D	0.56968	0.978	P	0.57776	0.827	T	0.49123	-0.8972	10	0.52906	T	0.07	-11.2512	13.4095	0.60933	0.3166:0.6834:0.0:0.0	.	184	Q14CZ7	FAKD3_HUMAN	T	184;184;167	ENSP00000264669:A184T;ENSP00000426008:A184T;ENSP00000422443:A167T	ENSP00000264669:A184T	A	-	1	0	FASTKD3	7920647	0.931000	0.31567	0.340000	0.25575	0.776000	0.43924	1.962000	0.40442	0.592000	0.29728	-0.284000	0.09977	GCT	FASTKD3	-	NULL	ENSG00000124279		0.433	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASTKD3	HGNC	protein_coding	OTTHUMT00000253673.1	66	0.00	0	C	NM_024091		7867647	7867647	-1	no_errors	ENST00000264669	ensembl	human	known	69_37n	missense	46	14.81	8	SNP	0.993	T
FASTKD5	60493	genome.wustl.edu	37	20	3127664	3127664	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A0XV-01A-11D-A10G-09	TCGA-AN-A0XV-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f0e5a39-e2c7-4a93-bd63-f1bab1e7c16e	ad602351-e61a-4469-97b0-fedfa3320fdf	g.chr20:3127664A>C	ENST00000380266.3	-	2	2374	c.2053T>G	c.(2053-2055)Tgc>Ggc	p.C685G	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	685					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.C685G(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						GCTGCGGGGCACAGGCCAGCC	0.552																																						dbGAP											1	Substitution - Missense(1)	breast(1)											86.0	87.0	87.0					20																	3127664		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.2053T>G	20.37:g.3127664A>C	ENSP00000369618:p.Cys685Gly		Q96JN3|Q9H5D1|Q9H8Y3	Missense_Mutation	SNP	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.C685G	ENST00000380266.3	37	c.2053	CCDS13048.1	20	.	.	.	.	.	.	.	.	.	.	A	0.136	-1.107736	0.01813	.	.	ENSG00000215251	ENST00000380266	T	0.15256	2.44	5.05	2.72	0.32119	.	0.875034	0.09720	N	0.764511	T	0.09423	0.0232	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42932	-0.9422	10	0.15066	T	0.55	.	1.2677	0.02014	0.5092:0.1919:0.1621:0.1368	.	685	Q7L8L6	FAKD5_HUMAN	G	685	ENSP00000369618:C685G	ENSP00000369618:C685G	C	-	1	0	FASTKD5	3075664	0.000000	0.05858	0.000000	0.03702	0.243000	0.25628	0.099000	0.15210	0.355000	0.24131	0.260000	0.18958	TGC	FASTKD5	-	NULL	ENSG00000215251		0.552	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASTKD5	HGNC	protein_coding	OTTHUMT00000077701.2	44	0.00	0	A	NM_021826		3127664	3127664	-1	no_errors	ENST00000380266	ensembl	human	known	69_37n	missense	20	45.95	17	SNP	0.000	C
FGD5	152273	genome.wustl.edu	37	3	14861440	14861440	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0XV-01A-11D-A10G-09	TCGA-AN-A0XV-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f0e5a39-e2c7-4a93-bd63-f1bab1e7c16e	ad602351-e61a-4469-97b0-fedfa3320fdf	g.chr3:14861440G>A	ENST00000285046.5	+	1	972	c.862G>A	c.(862-864)Ggg>Agg	p.G288R	FGD5_ENST00000543601.1_Missense_Mutation_p.G47R	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	288	Glu-rich.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.G288R(1)|p.G47R(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TGTCACAGGTGGGGAACAGGT	0.597																																						dbGAP											2	Substitution - Missense(2)	breast(2)											42.0	47.0	45.0					3																	14861440		2090	4220	6310	-	-	-	SO:0001583	missense	0			AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.862G>A	3.37:g.14861440G>A	ENSP00000285046:p.Gly288Arg		B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.G288R	ENST00000285046.5	37	c.862	CCDS46767.1	3	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616516	0.66672	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.75367	-0.93;-0.77	5.11	5.11	0.69529	.	1.009930	0.07986	N	0.986353	T	0.66519	0.2797	N	0.24115	0.695	0.09310	N	1	B;B	0.34372	0.451;0.451	B;B	0.31869	0.137;0.086	T	0.58775	-0.7577	10	0.35671	T	0.21	-1.8927	18.1753	0.89759	0.0:0.0:1.0:0.0	.	47;288	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	R	288;47	ENSP00000285046:G288R;ENSP00000445949:G47R	ENSP00000285046:G288R	G	+	1	0	FGD5	14836444	0.001000	0.12720	0.006000	0.13384	0.351000	0.29236	0.753000	0.26376	2.375000	0.81037	0.491000	0.48974	GGG	FGD5	-	NULL	ENSG00000154783		0.597	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD5	HGNC	protein_coding	OTTHUMT00000340628.1	23	0.00	0	G	NM_152536		14861440	14861440	+1	no_errors	ENST00000285046	ensembl	human	known	69_37n	missense	13	35.00	7	SNP	0.027	A
GMDS	2762	genome.wustl.edu	37	6	2124961	2124961	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0XV-01A-11D-A10G-09	TCGA-AN-A0XV-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f0e5a39-e2c7-4a93-bd63-f1bab1e7c16e	ad602351-e61a-4469-97b0-fedfa3320fdf	g.chr6:2124961C>G	ENST00000380815.4	-	2	376	c.107G>C	c.(106-108)gGt>gCt	p.G36A	GMDS_ENST00000530927.1_Missense_Mutation_p.G6A	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	36					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401)	p.G36A(1)	GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		CAGGTAGGAACCATCCTGGGG	0.502																																						dbGAP											1	Substitution - Missense(1)	breast(1)											62.0	57.0	59.0					6																	2124961		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF042377	CCDS4474.1, CCDS58994.1	6p25	2011-09-14			ENSG00000112699	ENSG00000112699	4.2.1.47	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	4369	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 3E, member 1"""	602884				9525924, 19027726	Standard	NM_001500		Approved	GMD, SDR3E1	uc003mtq.3	O60547	OTTHUMG00000016143	ENST00000380815.4:c.107G>C	6.37:g.2124961C>G	ENSP00000370194:p.Gly36Ala		E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9	Missense_Mutation	SNP	pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,tigrfam_GDP_Man_deHydtase	p.G36A	ENST00000380815.4	37	c.107	CCDS4474.1	6	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312500	0.81358	.	.	ENSG00000112699	ENST00000530927;ENST00000380815	D;D	0.99677	-6.37;-6.37	5.16	5.16	0.70880	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99876	0.9941	H	0.97806	4.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96326	0.9240	10	0.87932	D	0	-17.8667	18.6756	0.91528	0.0:1.0:0.0:0.0	.	36	O60547	GMDS_HUMAN	A	6;36	ENSP00000436726:G6A;ENSP00000370194:G36A	ENSP00000370194:G36A	G	-	2	0	GMDS	2069960	1.000000	0.71417	0.996000	0.52242	0.851000	0.48451	7.393000	0.79851	2.404000	0.81709	0.655000	0.94253	GGT	GMDS	-	pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,tigrfam_GDP_Man_deHydtase	ENSG00000112699		0.502	GMDS-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	GMDS	HGNC	protein_coding	OTTHUMT00000043380.3	67	0.00	0	C			2124961	2124961	-1	no_errors	ENST00000380815	ensembl	human	known	69_37n	missense	55	26.67	20	SNP	1.000	G
HACE1	57531	genome.wustl.edu	37	6	105219210	105219210	+	Missense_Mutation	SNP	T	T	A			TCGA-AN-A0XV-01A-11D-A10G-09	TCGA-AN-A0XV-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f0e5a39-e2c7-4a93-bd63-f1bab1e7c16e	ad602351-e61a-4469-97b0-fedfa3320fdf	g.chr6:105219210T>A	ENST00000262903.4	-	19	2345	c.2069A>T	c.(2068-2070)aAt>aTt	p.N690I	HACE1_ENST00000517995.1_5'UTR|HACE1_ENST00000369125.2_Intron	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	690	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)	p.N690I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		CCATTGCAAATTTTTCGCATA	0.368																																						dbGAP											1	Substitution - Missense(1)	breast(1)											77.0	77.0	77.0					6																	105219210		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.2069A>T	6.37:g.105219210T>A	ENSP00000262903:p.Asn690Ile		A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	pfam_HECT,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT,prints_Ankyrin_rpt	p.N690I	ENST00000262903.4	37	c.2069	CCDS5050.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.6|22.6	4.310304|4.310304	0.81358|0.81358	.|.	.|.	ENSG00000085382|ENSG00000085382	ENST00000518503;ENST00000518402|ENST00000262903	T;T|T	0.57107|0.58358	0.42;0.95|0.34	5.53|5.53	5.53|5.53	0.82687|0.82687	.|HECT (4);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67002|0.67002	0.2847|0.2847	M|M	0.76170|0.76170	2.325|2.325	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.999;1.0	.|D;D;D	.|0.91635	.|0.99;0.999;0.999	T|T	0.72711|0.72711	-0.4211|-0.4211	7|10	0.02654|0.87932	T|D	1|0	.|.	15.6565|15.6565	0.77140|0.77140	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|179;690;343	.|B4DFM6;Q8IYU2;Q8IYU2-3	.|.;HACE1_HUMAN;.	N|I	172;124|690	ENSP00000429520:K172N;ENSP00000428110:K124N|ENSP00000262903:N690I	ENSP00000428110:K124N|ENSP00000262903:N690I	K|N	-|-	3|2	2|0	HACE1|HACE1	105325903|105325903	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.950000|0.950000	0.60333|0.60333	7.676000|7.676000	0.84012|0.84012	2.085000|2.085000	0.62840|0.62840	0.482000|0.482000	0.46254|0.46254	AAA|AAT	HACE1	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000085382		0.368	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HACE1	HGNC	protein_coding	OTTHUMT00000041643.2	169	0.00	0	T	XM_045095		105219210	105219210	-1	no_errors	ENST00000262903	ensembl	human	known	69_37n	missense	110	24.14	35	SNP	1.000	A
MROH2B	133558	genome.wustl.edu	37	5	41052602	41052602	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0XV-01A-11D-A10G-09	TCGA-AN-A0XV-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f0e5a39-e2c7-4a93-bd63-f1bab1e7c16e	ad602351-e61a-4469-97b0-fedfa3320fdf	g.chr5:41052602C>T	ENST00000399564.4	-	12	1645	c.1195G>A	c.(1195-1197)Gtc>Atc	p.V399I	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	399								p.V399I(1)									TGGGAGAAGACATAATCAATC	0.408																																						dbGAP											1	Substitution - Missense(1)	breast(1)											110.0	104.0	106.0					5																	41052602		1883	4110	5993	-	-	-	SO:0001583	missense	0				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1195G>A	5.37:g.41052602C>T	ENSP00000382476:p.Val399Ile		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.V399I	ENST00000399564.4	37	c.1195	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	C	7.959	0.746631	0.15710	.	.	ENSG00000171495	ENST00000296803;ENST00000399564	T	0.64618	-0.11	5.53	-0.737	0.11129	Armadillo-type fold (1);	0.573604	0.15807	N	0.243663	T	0.22936	0.0554	N	0.01081	-1.03	0.24323	N	0.995038	B	0.06786	0.001	B	0.06405	0.002	T	0.36163	-0.9759	10	0.02654	T	1	.	8.5737	0.33585	0.0:0.2808:0.0:0.7192	.	399	Q7Z745	HTRB2_HUMAN	I	103;399	ENSP00000382476:V399I	ENSP00000296803:V103I	V	-	1	0	HEATR7B2	41088359	0.007000	0.16637	0.904000	0.35570	0.975000	0.68041	-0.974000	0.03794	-0.006000	0.14370	0.655000	0.94253	GTC	HEATR7B2	-	superfamily_ARM-type_fold	ENSG00000171495		0.408	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR7B2	HGNC	protein_coding	OTTHUMT00000367558.2	106	0.00	0	C	NM_173489		41052602	41052602	-1	no_errors	ENST00000399564	ensembl	human	known	69_37n	missense	78	29.09	32	SNP	0.928	T
IL17RD	54756	genome.wustl.edu	37	3	57139978	57139978	+	Silent	SNP	G	G	A	rs554074599		TCGA-AN-A0XV-01A-11D-A10G-09	TCGA-AN-A0XV-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f0e5a39-e2c7-4a93-bd63-f1bab1e7c16e	ad602351-e61a-4469-97b0-fedfa3320fdf	g.chr3:57139978G>A	ENST00000296318.7	-	7	742	c.654C>T	c.(652-654)ttC>ttT	p.F218F	IL17RD_ENST00000463523.1_Silent_p.F74F|IL17RD_ENST00000427856.2_Silent_p.F194F|IL17RD_ENST00000320057.5_Silent_p.F74F	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	218					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.F218F(1)|p.F74F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		GTGCATGGTCGAAGGACACCT	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		17643	0.001		0.0	False		,,,				2504	0.0					dbGAP											2	Substitution - coding silent(2)	breast(2)											75.0	68.0	71.0					3																	57139978		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF494208	CCDS2880.2	3p21.1	2008-02-05			ENSG00000144730	ENSG00000144730		"""Interleukins and interleukin receptors"""	17616	protein-coding gene	gene with protein product		606807				11802164, 12604616	Standard	NM_017563		Approved	SEF, IL17RLM, FLJ35755, IL-17RD	uc003dil.3	Q8NFM7	OTTHUMG00000150171	ENST00000296318.7:c.654C>T	3.37:g.57139978G>A			Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Silent	SNP	pfam_SEFIR,superfamily_TIR_dom	p.F218	ENST00000296318.7	37	c.654	CCDS2880.2	3																																																																																			IL17RD	-	NULL	ENSG00000144730		0.537	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17RD	HGNC	protein_coding	OTTHUMT00000316680.1	79	0.00	0	G	NM_017563		57139978	57139978	-1	no_errors	ENST00000296318	ensembl	human	known	69_37n	silent	50	26.47	18	SNP	0.941	A
INADL	10207	genome.wustl.edu	37	1	62274159	62274160	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-AN-A0XV-01A-11D-A10G-09	TCGA-AN-A0XV-10A-01D-A10G-09	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f0e5a39-e2c7-4a93-bd63-f1bab1e7c16e	ad602351-e61a-4469-97b0-fedfa3320fdf	g.chr1:62274159_62274160delAC	ENST00000371158.2	+	14	1754_1755	c.1640_1641delAC	c.(1639-1641)gacfs	p.D547fs	INADL_ENST00000316485.6_Frame_Shift_Del_p.D547fs	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	547					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.Q549fs*4(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GCTACTTTGGACACACAGATTG	0.282																																						dbGAP											1	Deletion - Frameshift(1)	breast(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.1640_1641delAC	1.37:g.62274163_62274164delAC	ENSP00000360200:p.Asp547fs		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Frame_Shift_Del	DEL	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ	p.Q549fs	ENST00000371158.2	37	c.1640_1641	CCDS617.2	1																																																																																			INADL	-	superfamily_PDZ	ENSG00000132849		0.282	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INADL	HGNC	protein_coding	OTTHUMT00000023639.2	358	0.00	0	AC	NM_170605		62274159	62274160	+1	no_errors	ENST00000371158	ensembl	human	known	69_37n	frame_shift_del	280	27.20	108	DEL	0.996:0.507	-
ITFG1	81533	genome.wustl.edu	37	16	47252799	47252799	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0XV-01A-11D-A10G-09	TCGA-AN-A0XV-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f0e5a39-e2c7-4a93-bd63-f1bab1e7c16e	ad602351-e61a-4469-97b0-fedfa3320fdf	g.chr16:47252799C>A	ENST00000320640.6	-	14	1661	c.1433G>T	c.(1432-1434)gGg>gTg	p.G478V	ITFG1_ENST00000544001.2_Missense_Mutation_p.G365V|ITFG1_ENST00000568047.1_5'UTR	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	478						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.G478V(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				TTTCAGATACCCATTTGCATC	0.333																																						dbGAP											1	Substitution - Missense(1)	breast(1)											110.0	103.0	105.0					16																	47252799		2202	4297	6499	-	-	-	SO:0001583	missense	0			AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"""T cell immunomodulatory protein"""	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.1433G>T	16.37:g.47252799C>A	ENSP00000319918:p.Gly478Val		Q96SR4|Q9BRE2|Q9H2V9	Missense_Mutation	SNP	NULL	p.G478V	ENST00000320640.6	37	c.1433	CCDS10728.1	16	.	.	.	.	.	.	.	.	.	.	C	19.93	3.917390	0.73098	.	.	ENSG00000129636	ENST00000320640;ENST00000537184;ENST00000542691;ENST00000544001	T;T	0.66099	-0.19;-0.19	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.82384	0.5025	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85364	0.1109	10	0.72032	D	0.01	-18.7044	17.8988	0.88897	0.0:1.0:0.0:0.0	.	365;478	F5GXC5;Q8TB96	.;TIP_HUMAN	V	478;138;223;365	ENSP00000319918:G478V;ENSP00000441062:G365V	ENSP00000319918:G478V	G	-	2	0	ITFG1	45810300	1.000000	0.71417	0.995000	0.50966	0.852000	0.48524	5.723000	0.68492	2.520000	0.84964	0.455000	0.32223	GGG	ITFG1	-	NULL	ENSG00000129636		0.333	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITFG1	HGNC	protein_coding	OTTHUMT00000256768.3	316	0.00	0	C	NM_030790		47252799	47252799	-1	no_errors	ENST00000320640	ensembl	human	known	69_37n	missense	185	32.61	90	SNP	0.998	A
LARP1B	55132	genome.wustl.edu	37	4	129043387	129043387	+	Intron	SNP	G	G	C			TCGA-AN-A0XV-01A-11D-A10G-09	TCGA-AN-A0XV-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f0e5a39-e2c7-4a93-bd63-f1bab1e7c16e	ad602351-e61a-4469-97b0-fedfa3320fdf	g.chr4:129043387G>C	ENST00000326639.6	+	11	1735				LARP1B_ENST00000427266.1_Nonstop_Mutation_p.*523S|LARP1B_ENST00000354456.3_Intron|LARP1B_ENST00000512292.1_Intron|LARP1B_ENST00000264584.5_Intron|LARP1B_ENST00000441387.1_Intron	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B							nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.*523S(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						GCTTTGTTTTGATTGTATGTT	0.299																																						dbGAP											1	Nonstop extension(1)	breast(1)											62.0	65.0	64.0					4																	129043387		2203	4298	6501	-	-	-	SO:0001627	intron_variant	0				CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"""La ribonucleoprotein domain containing"""	24704	protein-coding gene	gene with protein product			"""La ribonucleoprotein domain family, member 2"""	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.1524+44G>C	4.37:g.129043387G>C			Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Missense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd	p.L491F	ENST00000326639.6	37	c.1473	CCDS3738.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.027|0.027	-1.358911|-1.358911	0.01245|0.01245	.|.	.|.	ENSG00000138709|ENSG00000138709	ENST00000507377|ENST00000427266	.|.	.|.	.|.	3.88|3.88	0.854|0.854	0.19007|0.19007	.|.	.|.	.|.	.|.	.|.	T|.	0.20373|.	0.0490|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.22068|.	-1.0227|.	4|.	.|.	.|.	.|.	.|.	0.7153|0.7153	0.00931|0.00931	0.2341:0.1693:0.3921:0.2045|0.2341:0.1693:0.3921:0.2045	.|.	.|.	.|.	.|.	F|S	491|523	.|.	.|.	L|X	+|+	3|2	2|2	LARP1B|LARP1B	129262837|129262837	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.156000|0.156000	0.22039|0.22039	-0.042000|-0.042000	0.12063|0.12063	0.011000|0.011000	0.14865|0.14865	-0.199000|-0.199000	0.12753|0.12753	TTG|TGA	LARP1B	-	NULL	ENSG00000138709		0.299	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LARP1B	HGNC	protein_coding	OTTHUMT00000257173.2	65	0.00	0	G	NM_018078		129043387	129043387	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000507377	ensembl	human	known	69_37n	missense	46	22.03	13	SNP	0.001	C
MLEC	9761	genome.wustl.edu	37	12	121132627	121132627	+	Splice_Site	SNP	G	G	T			TCGA-AN-A0XV-01A-11D-A10G-09	TCGA-AN-A0XV-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f0e5a39-e2c7-4a93-bd63-f1bab1e7c16e	ad602351-e61a-4469-97b0-fedfa3320fdf	g.chr12:121132627G>T	ENST00000228506.3	+	3	843	c.415G>T	c.(415-417)Gta>Tta	p.V139L	RP11-173P15.3_ENST00000541383.1_RNA|MLEC_ENST00000412616.2_Intron	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	139					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)	p.V139L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						ATCCTGGAAGGTATTTGATGT	0.408																																						dbGAP											1	Substitution - Missense(1)	breast(1)											196.0	176.0	183.0					12																	121132627		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	613802	"""KIAA0152"""	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.415-1G>T	12.37:g.121132627G>T				Missense_Mutation	SNP	pfam_Malectin	p.V139L	ENST00000228506.3	37	c.415	CCDS9206.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.6|25.6	4.650304|4.650304	0.87958|0.87958	.|.	.|.	ENSG00000110917|ENSG00000110917	ENST00000535656|ENST00000228506;ENST00000545525	.|.	.|.	.|.	5.5|5.5	4.61|4.61	0.57282|0.57282	.|Malectin (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80154|0.80154	0.4571|0.4571	M|M	0.85299|0.85299	2.745|2.745	0.80722|0.80722	D|D	1|1	.|D	.|0.63046	.|0.992	.|D	.|0.70935	.|0.971	T|T	0.83078|0.83078	-0.0139|-0.0139	5|8	.|.	.|.	.|.	.|.	14.6412|14.6412	0.68726|0.68726	0.07:0.0:0.93:0.0|0.07:0.0:0.93:0.0	.|.	.|139	.|Q14165	.|MLEC_HUMAN	V|L	35|139;56	.|.	.|.	G|V	+|+	2|1	0|0	MLEC|MLEC	119617010|119617010	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.406000|9.406000	0.97321|0.97321	1.480000|1.480000	0.48289|0.48289	0.655000|0.655000	0.94253|0.94253	GGT|GTA	MLEC	-	pfam_Malectin	ENSG00000110917		0.408	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLEC	HGNC	protein_coding	OTTHUMT00000402781.2	175	0.57	1	G	NM_014730	Missense_Mutation	121132627	121132627	+1	no_errors	ENST00000228506	ensembl	human	known	69_37n	missense	99	30.77	44	SNP	1.000	T
KMT2C	58508	genome.wustl.edu	37	7	151945474	151945474	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AN-A0XV-01A-11D-A10G-09	TCGA-AN-A0XV-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f0e5a39-e2c7-4a93-bd63-f1bab1e7c16e	ad602351-e61a-4469-97b0-fedfa3320fdf	g.chr7:151945474G>C	ENST00000262189.6	-	14	2263	c.2045C>G	c.(2044-2046)tCa>tGa	p.S682*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.S682*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	682					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S682*(2)									TGGAGGCCTTGATTCTTCTCT	0.428																																						dbGAP											2	Substitution - Nonsense(2)	breast(2)											75.0	70.0	72.0					7																	151945474		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2045C>G	7.37:g.151945474G>C	ENSP00000262189:p.Ser682*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.S682*	ENST00000262189.6	37	c.2045	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	38	7.093350	0.98059	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.01	2.19	0.27852	.	1.608240	0.04412	N	0.366127	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	5.181	0.15160	0.2283:0.0:0.6279:0.1438	.	.	.	.	X	682	.	ENSP00000262189:S682X	S	-	2	0	MLL3	151576407	0.111000	0.22076	0.000000	0.03702	0.002000	0.02628	2.726000	0.47302	0.625000	0.30304	-0.157000	0.13467	TCA	MLL3	-	NULL	ENSG00000055609		0.428	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	171	0.00	0	G			151945474	151945474	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	nonsense	113	31.10	51	SNP	0.000	C
NCAM2	4685	genome.wustl.edu	37	21	22782691	22782691	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AN-A0XV-01A-11D-A10G-09	TCGA-AN-A0XV-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f0e5a39-e2c7-4a93-bd63-f1bab1e7c16e	ad602351-e61a-4469-97b0-fedfa3320fdf	g.chr21:22782691delA	ENST00000400546.1	+	10	1542	c.1293delA	c.(1291-1293)tcafs	p.S431fs	NCAM2_ENST00000284894.7_Frame_Shift_Del_p.S289fs	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	431	Ig-like C2-type 5.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I432fs*8(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CACCAGCATCAATTCACTGGA	0.353																																						dbGAP											1	Deletion - Frameshift(1)	breast(1)											77.0	74.0	75.0					21																	22782691		1824	4079	5903	-	-	-	SO:0001589	frameshift_variant	0				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1293delA	21.37:g.22782691delA	ENSP00000383392:p.Ser431fs		A8MQ06|B7Z841|Q7Z7F2	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like,prints_Neural_cell_adh	p.I432fs	ENST00000400546.1	37	c.1293	CCDS42910.1	21																																																																																			NCAM2	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000154654		0.353	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAM2	HGNC	protein_coding	OTTHUMT00000170915.1	133	0.00	0	A	NM_004540		22782691	22782691	+1	no_errors	ENST00000400546	ensembl	human	known	69_37n	frame_shift_del	119	22.93	36	DEL	0.938	-
NEK5	341676	genome.wustl.edu	37	13	52661583	52661583	+	Missense_Mutation	SNP	C	C	A	rs140291042	byFrequency	TCGA-AN-A0XV-01A-11D-A10G-09	TCGA-AN-A0XV-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f0e5a39-e2c7-4a93-bd63-f1bab1e7c16e	ad602351-e61a-4469-97b0-fedfa3320fdf	g.chr13:52661583C>A	ENST00000355568.4	-	15	1422	c.1283G>T	c.(1282-1284)cGt>cTt	p.R428L		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	428					positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.R485L(1)|p.R428L(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		AGAAGATGGACGAAGACCCTA	0.348																																						dbGAP											2	Substitution - Missense(2)	breast(2)											116.0	108.0	110.0					13																	52661583		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.1283G>T	13.37:g.52661583C>A	ENSP00000347767:p.Arg428Leu		Q5TAP5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R428L	ENST00000355568.4	37	c.1283	CCDS31979.1	13	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639250	0.67244	.	.	ENSG00000197168	ENST00000355568	T	0.78816	-1.21	5.45	4.61	0.57282	.	0.000000	0.64402	D	0.000003	D	0.85137	0.5628	M	0.65498	2.005	0.25525	N	0.987333	D	0.89917	1.0	D	0.87578	0.998	T	0.77267	-0.2651	10	0.72032	D	0.01	.	10.0335	0.42114	0.0:0.9068:0.0:0.0932	.	428	Q6P3R8	NEK5_HUMAN	L	428	ENSP00000347767:R428L	ENSP00000347767:R428L	R	-	2	0	NEK5	51559584	1.000000	0.71417	0.998000	0.56505	0.729000	0.41735	2.524000	0.45589	1.288000	0.44600	0.655000	0.94253	CGT	NEK5	-	NULL	ENSG00000197168		0.348	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK5	HGNC	protein_coding	OTTHUMT00000045045.3	220	0.00	0	C	NM_199289		52661583	52661583	-1	no_errors	ENST00000355568	ensembl	human	known	69_37n	missense	58	47.75	53	SNP	1.000	A
NFE2L3	9603	genome.wustl.edu	37	7	26224284	26224284	+	Silent	SNP	T	T	C			TCGA-AN-A0XV-01A-11D-A10G-09	TCGA-AN-A0XV-10A-01D-A10G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f0e5a39-e2c7-4a93-bd63-f1bab1e7c16e	ad602351-e61a-4469-97b0-fedfa3320fdf	g.chr7:26224284T>C	ENST00000056233.3	+	4	1225	c.966T>C	c.(964-966)tgT>tgC	p.C322C		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	322					transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.C322C(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						TCTTGCTTTGTCCCAACAATA	0.418																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											110.0	100.0	104.0					7																	26224284		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.966T>C	7.37:g.26224284T>C			Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Silent	SNP	pfam_bZIP_1,pfam_bZIP_Maf,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.C322	ENST00000056233.3	37	c.966	CCDS5396.1	7																																																																																			NFE2L3	-	NULL	ENSG00000050344		0.418	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFE2L3	HGNC	protein_coding	OTTHUMT00000214088.1	113	0.00	0	T			26224284	26224284	+1	no_errors	ENST00000056233	ensembl	human	known	69_37n	silent	58	14.49	10	SNP	0.004	C
TENM2	57451	genome.wustl.edu	37	5	167545418	167545418	+	Silent	SNP	C	C	T			TCGA-AN-A0XV-01A-11D-A10G-09	TCGA-AN-A0XV-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f0e5a39-e2c7-4a93-bd63-f1bab1e7c16e	ad602351-e61a-4469-97b0-fedfa3320fdf	g.chr5:167545418C>T	ENST00000518659.1	+	10	1974	c.1935C>T	c.(1933-1935)tgC>tgT	p.C645C	CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000403607.2_Silent_p.C478C|TENM2_ENST00000519204.1_Silent_p.C524C|TENM2_ENST00000545108.1_Silent_p.C645C|TENM2_ENST00000520394.1_Silent_p.C413C	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	645	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.C645C(1)|p.C524C(1)|p.C478C(1)									ATCCTTCCTGCGGGGGCCACG	0.602																																						dbGAP											3	Substitution - coding silent(3)	breast(3)											138.0	143.0	142.0					5																	167545418		2106	4230	6336	-	-	-	SO:0001819	synonymous_variant	0			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.1935C>T	5.37:g.167545418C>T			Q9ULU2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl,superfamily_Cytokine_IL1-like,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.C645	ENST00000518659.1	37	c.1935		5																																																																																			ODZ2	-	pfam_EGF_extracell,smart_EGF-like,pfscan_EG-like_dom	ENSG00000145934		0.602	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	ODZ2	HGNC	protein_coding	OTTHUMT00000376096.1	16	0.00	0	C	NM_001122679		167545418	167545418	+1	no_errors	ENST00000518659	ensembl	human	known	69_37n	silent	15	21.05	4	SNP	1.000	T
OR2B3	442184	genome.wustl.edu	37	6	29055016	29055016	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AN-A0XV-01A-11D-A10G-09	TCGA-AN-A0XV-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f0e5a39-e2c7-4a93-bd63-f1bab1e7c16e	ad602351-e61a-4469-97b0-fedfa3320fdf	g.chr6:29055016C>A	ENST00000377173.2	-	1	74	c.10G>T	c.(10-12)Gaa>Taa	p.E4*		NM_001005226.2	NP_001005226.1	O76000	OR2B3_HUMAN	olfactory receptor, family 2, subfamily B, member 3	4						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E4*(1)		breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						CTCTCATTTTCCCAATTCATG	0.363																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											49.0	50.0	50.0					6																	29055016		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0				CCDS34358.1	6p22.2-p21.31	2012-08-09	2008-10-22	2008-10-22	ENSG00000204703	ENSG00000204703		"""GPCR / Class A : Olfactory receptors"""	8238	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 3 pseudogene"""	OR2B3P			Standard	NM_001005226		Approved	OR6-4	uc003nlx.3	O76000	OTTHUMG00000031226	ENST00000377173.2:c.10G>T	6.37:g.29055016C>A	ENSP00000366378:p.Glu4*		B0UYQ1|Q5ST41|Q96R13	Nonsense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.E4*	ENST00000377173.2	37	c.10	CCDS34358.1	6	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631712	0.46944	.	.	ENSG00000204703	ENST00000377173	.	.	.	3.9	-0.263	0.12954	.	0.187075	0.25439	U	0.030665	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	3.6361	0.08150	0.1714:0.522:0.0:0.3065	.	.	.	.	X	4	.	ENSP00000366378:E4X	E	-	1	0	OR2B3	29162995	0.000000	0.05858	0.452000	0.26994	0.423000	0.31445	-0.021000	0.12504	-0.529000	0.06358	-0.233000	0.12211	GAA	OR2B3	-	NULL	ENSG00000204703		0.363	OR2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2B3	HGNC	protein_coding	OTTHUMT00000076469.2	86	0.00	0	C			29055016	29055016	-1	no_errors	ENST00000377173	ensembl	human	known	69_37n	nonsense	62	26.19	22	SNP	0.329	A
OPRM1	4988	genome.wustl.edu	37	6	154412132	154412132	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0XV-01A-11D-A10G-09	TCGA-AN-A0XV-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f0e5a39-e2c7-4a93-bd63-f1bab1e7c16e	ad602351-e61a-4469-97b0-fedfa3320fdf	g.chr6:154412132G>T	ENST00000330432.7	+	3	926	c.689G>T	c.(688-690)tGg>tTg	p.W230L	OPRM1_ENST00000428397.2_Missense_Mutation_p.W230L|OPRM1_ENST00000522236.1_Missense_Mutation_p.W130L|OPRM1_ENST00000360422.4_Missense_Mutation_p.W230L|OPRM1_ENST00000520708.1_Missense_Mutation_p.W130L|OPRM1_ENST00000452687.2_Missense_Mutation_p.W230L|OPRM1_ENST00000337049.4_Missense_Mutation_p.W230L|OPRM1_ENST00000518759.1_Missense_Mutation_p.W149L|OPRM1_ENST00000419506.2_Missense_Mutation_p.W230L|OPRM1_ENST00000229768.5_Missense_Mutation_p.W230L|OPRM1_ENST00000434900.2_Missense_Mutation_p.W323L|OPRM1_ENST00000524163.1_Missense_Mutation_p.W230L|OPRM1_ENST00000435918.2_Missense_Mutation_p.W230L|OPRM1_ENST00000522555.1_Missense_Mutation_p.W130L|OPRM1_ENST00000414028.2_Missense_Mutation_p.W230L	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	230					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)	p.W230L(2)|p.W323L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	ACCTGGTACTGGGAAAACCTG	0.393																																						dbGAP											3	Substitution - Missense(3)	breast(3)											200.0	182.0	188.0					6																	154412132		1967	4182	6149	-	-	-	SO:0001583	missense	0			L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.689G>T	6.37:g.154412132G>T	ENSP00000328264:p.Trp230Leu		B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Mu_opioid_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_W_rcpt,prints_P2_purnocptor,prints_NPY_rcpt	p.W323L	ENST00000330432.7	37	c.968	CCDS55070.1	6	.	.	.	.	.	.	.	.	.	.	G	26.5	4.746993	0.89663	.	.	ENSG00000112038	ENST00000434900;ENST00000520708;ENST00000518759;ENST00000330432;ENST00000360422;ENST00000428397;ENST00000452687;ENST00000229768;ENST00000419506;ENST00000524163;ENST00000414028;ENST00000435918;ENST00000337049;ENST00000522555;ENST00000522236	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28;1.28;1.28;1.28;1.28;1.28;1.28;1.28;1.28;1.28	5.82	5.82	0.92795	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.61286	0.2335	M	0.82716	2.605	0.80722	D	1	D;D;D;D;D;D;D;D;D;P;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.998;0.997;1.0;1.0;0.937;1.0;0.998	D;D;D;D;D;D;D;D;D;P;D;D	0.91635	0.999;0.995;0.993;0.999;0.995;0.986;0.974;0.995;0.997;0.66;0.995;0.988	T	0.65294	-0.6203	10	0.87932	D	0	.	20.0966	0.97849	0.0:0.0:1.0:0.0	.	230;230;230;230;323;149;130;230;230;230;230;230	P35372-4;P35372-8;P35372-11;P35372-9;P35372-10;B8Q1L9;Q6UPP1;P35372-5;P35372;P35372-7;P35372-3;P35372-2	.;.;.;.;.;.;.;.;OPRM_HUMAN;.;.;.	L	323;130;149;230;230;230;230;230;230;230;230;230;230;130;130	ENSP00000394624:W323L;ENSP00000430876:W130L;ENSP00000430260:W149L;ENSP00000328264:W230L;ENSP00000353598:W230L;ENSP00000411903:W230L;ENSP00000410497:W230L;ENSP00000229768:W230L;ENSP00000403549:W230L;ENSP00000430097:W230L;ENSP00000399359:W230L;ENSP00000413752:W230L;ENSP00000338381:W230L;ENSP00000429719:W130L;ENSP00000429373:W130L	ENSP00000229768:W230L	W	+	2	0	OPRM1	154453825	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.751000	0.94390	0.650000	0.86243	TGG	OPRM1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000112038		0.393	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPRM1	HGNC	protein_coding	OTTHUMT00000042786.2	224	0.00	0	G	NM_000914		154412132	154412132	+1	no_errors	ENST00000434900	ensembl	human	known	69_37n	missense	141	30.20	61	SNP	1.000	T
PCDHGA11	56105	genome.wustl.edu	37	5	140801090	140801090	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0XV-01A-11D-A10G-09	TCGA-AN-A0XV-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f0e5a39-e2c7-4a93-bd63-f1bab1e7c16e	ad602351-e61a-4469-97b0-fedfa3320fdf	g.chr5:140801090C>T	ENST00000398587.2	+	1	329	c.296C>T	c.(295-297)aCg>aTg	p.T99M	PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.T99M|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	99	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T99M(1)		breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGTGAGACGGTGTCCTCC	0.502																																						dbGAP											1	Substitution - Missense(1)	breast(1)											37.0	43.0	41.0					5																	140801090		2142	4281	6423	-	-	-	SO:0001583	missense	0			AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.296C>T	5.37:g.140801090C>T	ENSP00000381589:p.Thr99Met		B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.T99M	ENST00000398587.2	37	c.296	CCDS47294.1	5	.	.	.	.	.	.	.	.	.	.	c	13.68	2.308617	0.40895	.	.	ENSG00000253873	ENST00000398587;ENST00000518882	T;T	0.27720	1.65;1.65	5.93	0.689	0.18033	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	164.302000	0.02440	U	0.084493	T	0.37652	0.1011	L	0.43757	1.38	0.09310	N	1	D;D;D	0.59767	0.969;0.986;0.961	P;P;P	0.53912	0.666;0.737;0.615	T	0.12268	-1.0554	10	0.72032	D	0.01	.	3.1892	0.06612	0.0928:0.4164:0.2341:0.2568	.	99;99;99	Q9Y5H2;Q9Y5H2-3;Q9Y5H2-2	PCDGB_HUMAN;.;.	M	99	ENSP00000381589:T99M;ENSP00000428333:T99M	ENSP00000381589:T99M	T	+	2	0	PCDHGA11	140781274	0.000000	0.05858	0.087000	0.20705	0.997000	0.91878	-3.912000	0.00336	0.085000	0.17107	0.591000	0.81541	ACG	PCDHGA11	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253873		0.502	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA11	HGNC	protein_coding	OTTHUMT00000376974.1	11	0.00	0	C	NM_018914		140801090	140801090	+1	no_errors	ENST00000398587	ensembl	human	known	69_37n	missense	10	28.57	4	SNP	0.000	T
PSMD1	5707	genome.wustl.edu	37	2	231927025	231927025	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AN-A0XV-01A-11D-A10G-09	TCGA-AN-A0XV-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f0e5a39-e2c7-4a93-bd63-f1bab1e7c16e	ad602351-e61a-4469-97b0-fedfa3320fdf	g.chr2:231927025delG	ENST00000308696.6	+	3	286	c.124delG	c.(124-126)gtafs	p.V42fs	PSMD1_ENST00000409643.1_Frame_Shift_Del_p.V42fs|PSMD1_ENST00000373635.4_Frame_Shift_Del_p.V42fs	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	42					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)	p.V42fs*1(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	TTCCGAGTCCGTAGACAAAAT	0.303																																						dbGAP											1	Deletion - Frameshift(1)	breast(1)											42.0	44.0	43.0					2																	231927025		2202	4296	6498	-	-	-	SO:0001589	frameshift_variant	0			D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.124delG	2.37:g.231927025delG	ENSP00000309474:p.Val42fs		B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Frame_Shift_Del	DEL	pfam_APC_proteasome,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2	p.V42fs	ENST00000308696.6	37	c.124	CCDS2482.1	2																																																																																			PSMD1	-	superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2	ENSG00000173692		0.303	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD1	HGNC	protein_coding	OTTHUMT00000256958.2	202	0.00	0	G			231927025	231927025	+1	no_errors	ENST00000308696	ensembl	human	known	69_37n	frame_shift_del	148	11.76	20	DEL	1.000	-
RAD54L	8438	genome.wustl.edu	37	1	46743834	46743834	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0XV-01A-11D-A10G-09	TCGA-AN-A0XV-10A-01D-A10G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f0e5a39-e2c7-4a93-bd63-f1bab1e7c16e	ad602351-e61a-4469-97b0-fedfa3320fdf	g.chr1:46743834C>A	ENST00000371975.4	+	18	2798	c.2124C>A	c.(2122-2124)caC>caA	p.H708Q	RAD54L_ENST00000442598.1_Missense_Mutation_p.H708Q|LRRC41_ENST00000472710.1_5'Flank	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	708					chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.H708Q(1)		breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		GGTGGAACCACTGCACTGATA	0.602								Direct reversal of damage;Homologous recombination																														dbGAP											1	Substitution - Missense(1)	breast(1)											44.0	39.0	41.0					1																	46743834		2203	4300	6503	-	-	-	SO:0001583	missense	0			X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.2124C>A	1.37:g.46743834C>A	ENSP00000361043:p.His708Gln		Q5TE31|Q6IUY3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_Rad54_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.H708Q	ENST00000371975.4	37	c.2124	CCDS532.1	1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.444439	0.63178	.	.	ENSG00000085999	ENST00000442598;ENST00000371975;ENST00000535499	T;T	0.75589	-0.95;-0.95	5.12	-5.2	0.02823	.	0.000000	0.85682	D	0.000000	D	0.85071	0.5613	M	0.90542	3.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84949	0.0870	10	0.87932	D	0	-14.2016	12.8092	0.57629	0.0:0.544:0.0:0.456	.	528;708	G3V1N0;Q92698	.;RAD54_HUMAN	Q	708;708;528	ENSP00000396113:H708Q;ENSP00000361043:H708Q	ENSP00000361043:H708Q	H	+	3	2	RAD54L	46516421	0.840000	0.29493	0.620000	0.29132	0.977000	0.68977	0.022000	0.13511	-1.410000	0.02035	-0.265000	0.10407	CAC	RAD54L	-	NULL	ENSG00000085999		0.602	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54L	HGNC	protein_coding	OTTHUMT00000021272.1	15	0.00	0	C	NM_003579		46743834	46743834	+1	no_errors	ENST00000371975	ensembl	human	known	69_37n	missense	16	44.83	13	SNP	0.996	A
RAB3GAP2	25782	genome.wustl.edu	37	1	220340879	220340879	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0XV-01A-11D-A10G-09	TCGA-AN-A0XV-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f0e5a39-e2c7-4a93-bd63-f1bab1e7c16e	ad602351-e61a-4469-97b0-fedfa3320fdf	g.chr1:220340879A>G	ENST00000358951.2	-	25	3061	c.2945T>C	c.(2944-2946)gTa>gCa	p.V982A		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	982					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)	p.V982A(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CATCTCTGATACCTCAAGGAA	0.398																																						dbGAP											1	Substitution - Missense(1)	breast(1)											200.0	202.0	202.0					1																	220340879		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.2945T>C	1.37:g.220340879A>G	ENSP00000351832:p.Val982Ala		A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	superfamily_WD40_repeat_dom	p.V982A	ENST00000358951.2	37	c.2945	CCDS31028.1	1	.	.	.	.	.	.	.	.	.	.	A	5.610	0.297359	0.10622	.	.	ENSG00000118873	ENST00000358951	T	0.27104	1.69	6.02	0.724	0.18236	.	0.630935	0.16417	N	0.215339	T	0.09512	0.0234	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27673	-1.0067	10	0.10377	T	0.69	.	0.7746	0.01030	0.3941:0.1034:0.249:0.2535	.	982	Q9H2M9	RBGPR_HUMAN	A	982	ENSP00000351832:V982A	ENSP00000351832:V982A	V	-	2	0	RAB3GAP2	218407502	0.000000	0.05858	0.008000	0.14137	0.994000	0.84299	0.082000	0.14847	0.160000	0.19432	0.533000	0.62120	GTA	RAB3GAP2	-	NULL	ENSG00000118873		0.398	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3GAP2	HGNC	protein_coding	OTTHUMT00000090205.2	246	0.00	0	A	NM_012414		220340879	220340879	-1	no_errors	ENST00000358951	ensembl	human	known	69_37n	missense	167	30.42	73	SNP	0.019	G
SLC5A7	60482	genome.wustl.edu	37	2	108604635	108604635	+	Silent	SNP	G	G	C			TCGA-AN-A0XV-01A-11D-A10G-09	TCGA-AN-A0XV-10A-01D-A10G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f0e5a39-e2c7-4a93-bd63-f1bab1e7c16e	ad602351-e61a-4469-97b0-fedfa3320fdf	g.chr2:108604635G>C	ENST00000264047.2	+	2	300	c.24G>C	c.(22-24)ctG>ctC	p.L8L	SLC5A7_ENST00000409059.1_Silent_p.L8L|SLC5A7_ENST00000540517.1_Intron	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	8					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)	p.L8L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TGGAAGGACTGATAGCTATCA	0.438																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											148.0	139.0	142.0					2																	108604635		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.24G>C	2.37:g.108604635G>C			Q53TF2	Silent	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter	p.L8	ENST00000264047.2	37	c.24	CCDS2074.1	2																																																																																			SLC5A7	-	pfscan_Na/solute_symporter	ENSG00000115665		0.438	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A7	HGNC	protein_coding	OTTHUMT00000253562.1	103	0.00	0	G			108604635	108604635	+1	no_errors	ENST00000264047	ensembl	human	known	69_37n	silent	87	23.93	28	SNP	1.000	C
UHRF1	29128	genome.wustl.edu	37	19	4956762	4956762	+	RNA	SNP	A	A	G			TCGA-AN-A0XV-01A-11D-A10G-09	TCGA-AN-A0XV-10A-01D-A10G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6f0e5a39-e2c7-4a93-bd63-f1bab1e7c16e	ad602351-e61a-4469-97b0-fedfa3320fdf	g.chr19:4956762A>G	ENST00000592666.1	+	0	2748							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)	p.I737V(1)		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)		GTTCCAGTGTATCTGCTGTCA	0.602																																						dbGAP											1	Substitution - Missense(1)	breast(1)											65.0	63.0	64.0					19																	4956762		2009	4146	6155	-	-	-			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.4956762A>G			A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	SNP	-	NULL	ENST00000592666.1	37	NULL		19	.	.	.	.	.	.	.	.	.	.	A	1.954	-0.440524	0.04636	.	.	ENSG00000034063	ENST00000262952;ENST00000396708;ENST00000455180;ENST00000543616;ENST00000398240	.	.	.	3.99	3.99	0.46301	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.125717	0.52532	D	0.000071	T	0.45377	0.1339	.	.	.	0.41216	D	0.986472	P;B	0.48640	0.913;0.155	P;B	0.61592	0.891;0.085	T	0.52026	-0.8630	7	0.02654	T	1	-16.7763	8.0574	0.30612	0.9063:0.0:0.0937:0.0	.	738;725	Q2HIX7;Q96T88	.;UHRF1_HUMAN	V	724;339;724;724;737	.	ENSP00000262952:I724V	I	+	1	0	UHRF1	4907762	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.462000	0.60121	1.585000	0.49928	0.459000	0.35465	ATC	UHRF1	-	-	ENSG00000034063		0.602	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	UHRF1	HGNC	processed_transcript	OTTHUMT00000450444.1	46	0.00	0	A	NM_001048201		4956762	4956762	+1	no_errors	ENST00000262952	ensembl	human	known	69_37n	rna	46	31.34	21	SNP	1.000	G
